Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02420:Tcf4'

292648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tcf4

Ensembl Gene

ENSMUSG00000053477

Gene Name

transcription factor 4

Synonyms

SEF2-1, TFE, E2.2, MITF-2A, 5730422P05Rik, MITF-2B, bHLHb19, ME2, ASP-I2, SEF-2, ITF-2b, ITF-2, E2-2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02420

Quality Score

Status

Chromosome

Chromosomal Location

69476500-69821038 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69697210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 29 (R29W)

Ref Sequence

ENSEMBL: ENSMUSP00000147155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066717] [ENSMUST00000078486] [ENSMUST00000114980] [ENSMUST00000114982] [ENSMUST00000114985] [ENSMUST00000128706] [ENSMUST00000200862] [ENSMUST00000201124] [ENSMUST00000201288] [ENSMUST00000201235] [ENSMUST00000200966] [ENSMUST00000201181] [ENSMUST00000201205] [ENSMUST00000201299] [ENSMUST00000201094] [ENSMUST00000200813] [ENSMUST00000200703] [ENSMUST00000202765] [ENSMUST00000202354] [ENSMUST00000201781] [ENSMUST00000201537] [ENSMUST00000201627] [ENSMUST00000201631] [ENSMUST00000202074] [ENSMUST00000202477] [ENSMUST00000201410] [ENSMUST00000202116] [ENSMUST00000202435] [ENSMUST00000202057] [ENSMUST00000202350] [ENSMUST00000202937] [ENSMUST00000202458] [ENSMUST00000202674] [ENSMUST00000209174] [ENSMUST00000207214] [ENSMUST00000202610] [ENSMUST00000202772] [ENSMUST00000203002]

AlphaFold

Q60722

Predicted Effect

probably damaging
Transcript: ENSMUST00000066717
AA Change: R180W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067318
Gene: ENSMUSG00000053477
AA Change: R180W

Domain	Start	End	E-Value	Type
low complexity region	244	252	N/A	INTRINSIC
low complexity region	358	369	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	488	501	N/A	INTRINSIC
low complexity region	524	542	N/A	INTRINSIC
low complexity region	546	564	N/A	INTRINSIC
HLH	595	648	3.57e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000078486
AA Change: R158W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000077577
Gene: ENSMUSG00000053477
AA Change: R158W

Domain	Start	End	E-Value	Type
low complexity region	222	230	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
low complexity region	466	479	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	524	542	N/A	INTRINSIC
HLH	573	626	3.57e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114980
AA Change: R158W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110631
Gene: ENSMUSG00000053477
AA Change: R158W

Domain	Start	End	E-Value	Type
low complexity region	222	230	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
low complexity region	466	479	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	524	545	N/A	INTRINSIC
HLH	569	622	3.57e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114982
AA Change: R158W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110633
Gene: ENSMUSG00000053477
AA Change: R158W

Domain	Start	End	E-Value	Type
low complexity region	222	230	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
low complexity region	466	479	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	524	545	N/A	INTRINSIC
HLH	569	622	3.57e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114985
AA Change: R158W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110636
Gene: ENSMUSG00000053477
AA Change: R158W

Domain	Start	End	E-Value	Type
low complexity region	222	230	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
low complexity region	466	479	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	524	542	N/A	INTRINSIC
HLH	573	626	3.57e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125154

Predicted Effect

probably damaging
Transcript: ENSMUST00000128706
AA Change: R134W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000200862
AA Change: R29W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144338
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201124
AA Change: R81W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144080
Gene: ENSMUSG00000053477
AA Change: R81W

Domain	Start	End	E-Value	Type
low complexity region	145	153	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201288
AA Change: R158W

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000201235
AA Change: R134W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000200966
AA Change: R29W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144045
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201181
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144376
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201205
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144273
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	413	N/A	INTRINSIC
HLH	444	497	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201299
AA Change: R134W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000201094
AA Change: R29W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144169
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	416	N/A	INTRINSIC
HLH	440	493	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000200813
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144397
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201045

Predicted Effect

probably benign
Transcript: ENSMUST00000200703

SMART Domains

Protein: ENSMUSP00000144583
Gene: ENSMUSG00000053477

Domain	Start	End	E-Value	Type
low complexity region	7	15	N/A	INTRINSIC
low complexity region	121	132	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202765
AA Change: R29W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144332
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202354
AA Change: R134W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144646
Gene: ENSMUSG00000053477
AA Change: R134W

Domain	Start	End	E-Value	Type
low complexity region	198	206	N/A	INTRINSIC
low complexity region	312	323	N/A	INTRINSIC
low complexity region	405	417	N/A	INTRINSIC
low complexity region	441	454	N/A	INTRINSIC
low complexity region	477	495	N/A	INTRINSIC
low complexity region	499	520	N/A	INTRINSIC
HLH	544	597	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201781
AA Change: R134W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144209
Gene: ENSMUSG00000053477
AA Change: R134W

Domain	Start	End	E-Value	Type
low complexity region	198	206	N/A	INTRINSIC
low complexity region	312	323	N/A	INTRINSIC
low complexity region	406	418	N/A	INTRINSIC
low complexity region	442	455	N/A	INTRINSIC
low complexity region	478	496	N/A	INTRINSIC
low complexity region	500	518	N/A	INTRINSIC
HLH	549	602	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201537
AA Change: R134W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000201627
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144649
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000201631
AA Change: R134W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144285
Gene: ENSMUSG00000053477
AA Change: R134W

Domain	Start	End	E-Value	Type
low complexity region	198	206	N/A	INTRINSIC
low complexity region	312	323	N/A	INTRINSIC
low complexity region	406	418	N/A	INTRINSIC
low complexity region	442	455	N/A	INTRINSIC
low complexity region	478	496	N/A	INTRINSIC
low complexity region	500	521	N/A	INTRINSIC
HLH	545	598	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202074
AA Change: R133W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000202477
AA Change: R29W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144219
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	416	N/A	INTRINSIC
HLH	440	493	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201410
AA Change: R29W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143950
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	416	N/A	INTRINSIC
HLH	440	493	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202116
AA Change: R158W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144512
Gene: ENSMUSG00000053477
AA Change: R158W

Domain	Start	End	E-Value	Type
low complexity region	222	230	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
low complexity region	430	442	N/A	INTRINSIC
low complexity region	466	479	N/A	INTRINSIC
low complexity region	502	520	N/A	INTRINSIC
low complexity region	524	545	N/A	INTRINSIC
HLH	569	622	3.57e-11	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202435
AA Change: R134W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144407
Gene: ENSMUSG00000053477
AA Change: R134W

Domain	Start	End	E-Value	Type
low complexity region	198	206	N/A	INTRINSIC
low complexity region	312	323	N/A	INTRINSIC
low complexity region	406	418	N/A	INTRINSIC
low complexity region	442	455	N/A	INTRINSIC
low complexity region	478	496	N/A	INTRINSIC
low complexity region	500	518	N/A	INTRINSIC
HLH	549	602	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202057
AA Change: R29W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144647
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	416	N/A	INTRINSIC
HLH	440	493	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202350
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144154
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000202937
AA Change: R29W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000143857
Gene: ENSMUSG00000053477
AA Change: R29W

Domain	Start	End	E-Value	Type
low complexity region	93	101	N/A	INTRINSIC
low complexity region	207	218	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	337	350	N/A	INTRINSIC
low complexity region	373	391	N/A	INTRINSIC
low complexity region	395	413	N/A	INTRINSIC
HLH	444	497	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202458
AA Change: R79W

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143875
Gene: ENSMUSG00000053477
AA Change: R79W

Domain	Start	End	E-Value	Type
low complexity region	143	151	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
low complexity region	387	400	N/A	INTRINSIC
low complexity region	423	441	N/A	INTRINSIC
low complexity region	445	466	N/A	INTRINSIC
HLH	490	543	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202674
AA Change: R133W

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144221
Gene: ENSMUSG00000053477
AA Change: R133W

Domain	Start	End	E-Value	Type
low complexity region	197	205	N/A	INTRINSIC
low complexity region	311	322	N/A	INTRINSIC
low complexity region	405	417	N/A	INTRINSIC
low complexity region	441	454	N/A	INTRINSIC
low complexity region	477	495	N/A	INTRINSIC
low complexity region	499	520	N/A	INTRINSIC
HLH	544	597	1.6e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209174
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207214
AA Change: R29W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201747

Predicted Effect

probably benign
Transcript: ENSMUST00000202610

SMART Domains

Protein: ENSMUSP00000144670
Gene: ENSMUSG00000053477

Domain	Start	End	E-Value	Type
low complexity region	162	170	N/A	INTRINSIC
low complexity region	276	287	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	406	419	N/A	INTRINSIC
low complexity region	442	460	N/A	INTRINSIC
low complexity region	464	482	N/A	INTRINSIC
HLH	513	566	1.6e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202772

SMART Domains

Protein: ENSMUSP00000143987
Gene: ENSMUSG00000053477

Domain	Start	End	E-Value	Type
low complexity region	162	170	N/A	INTRINSIC
low complexity region	276	287	N/A	INTRINSIC
low complexity region	370	382	N/A	INTRINSIC
low complexity region	406	419	N/A	INTRINSIC
low complexity region	442	460	N/A	INTRINSIC
low complexity region	464	485	N/A	INTRINSIC
HLH	509	562	1.6e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203002

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes transcription factor 4, a basic helix-loop-helix transcription factor. The encoded protein recognizes an Ephrussi-box ('E-box') binding site ('CANNTG') - a motif first identified in immunoglobulin enhancers. This gene is broadly expressed, and may play an important role in nervous system development. Defects in this gene are a cause of Pitt-Hopkins syndrome. In addition, an intronic CTG repeat normally numbering 10-37 repeat units can expand to >50 repeat units and cause Fuchs endothelial corneal dystrophy. Multiple alternatively spliced transcript variants that encode different proteins have been described. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygotes for a null allele show a partial block in early thymopoiesis, increased double-negative T cell count, and increased sensitivity to anti-CD3 induced apoptosis. Homozygotes for another null allele show neonatal or postnatal lethality, reduced pro-B cell number, and abnormal pontine nuclei. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,187,494 (GRCm39)	N136S	probably damaging	Het
Adcy8	A	G	15: 64,659,303 (GRCm39)	S496P	probably damaging	Het
Agbl3	T	A	6: 34,762,242 (GRCm39)	S81T	possibly damaging	Het
Apobec1	A	T	6: 122,558,531 (GRCm39)	Y75N	probably benign	Het
Asic2	A	G	11: 80,772,479 (GRCm39)	L517P	probably benign	Het
Atp8a1	A	G	5: 67,840,126 (GRCm39)	S752P	probably damaging	Het
Blm	T	C	7: 80,145,754 (GRCm39)	Y775C	probably damaging	Het
C1qtnf5	T	C	9: 44,019,901 (GRCm39)	I175T	probably benign	Het
Ccdc81	G	A	7: 89,524,946 (GRCm39)	T545I	probably benign	Het
Ccdc88b	T	C	19: 6,834,317 (GRCm39)	E174G	probably damaging	Het
Chl1	G	A	6: 103,692,330 (GRCm39)	V1066M	probably damaging	Het
Cntn6	T	A	6: 104,823,103 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyren	T	C	6: 34,851,404 (GRCm39)	Y150C	probably damaging	Het
Cysrt1	T	C	2: 25,129,360 (GRCm39)	I51V	probably benign	Het
Dnah7a	T	C	1: 53,725,702 (GRCm39)	N69S	probably benign	Het
Fam83d	T	C	2: 158,627,655 (GRCm39)	L448P	probably benign	Het
Gm9631	G	A	11: 121,834,478 (GRCm39)			Het
Hmcn1	T	C	1: 150,598,175 (GRCm39)	Y1709C	probably damaging	Het
Inppl1	G	A	7: 101,481,526 (GRCm39)		probably benign	Het
Iqcc	T	C	4: 129,510,748 (GRCm39)	T256A	probably benign	Het
Itprid2	T	C	2: 79,465,986 (GRCm39)	S35P	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Lyz1	A	T	10: 117,124,535 (GRCm39)	C134S	probably damaging	Het
Mpzl3	T	C	9: 44,977,815 (GRCm39)	I141T	possibly damaging	Het
Mterf1a	T	C	5: 3,941,047 (GRCm39)	N274D	probably damaging	Het
Myo18a	T	A	11: 77,709,519 (GRCm39)	V543D	possibly damaging	Het
Myo18b	A	T	5: 112,975,852 (GRCm39)	D1332E	possibly damaging	Het
Or2r11	A	G	6: 42,437,110 (GRCm39)	V281A	probably benign	Het
Pcdh15	A	T	10: 74,138,938 (GRCm39)	D333V	probably damaging	Het
Plekha7	A	G	7: 115,757,469 (GRCm39)	Y494H	probably damaging	Het
Plekhg1	A	G	10: 3,914,106 (GRCm39)	N1276S	probably damaging	Het
Ppig	T	C	2: 69,562,571 (GRCm39)	V5A	probably benign	Het
Prag1	A	T	8: 36,614,580 (GRCm39)		probably benign	Het
Prom1	T	C	5: 44,220,496 (GRCm39)	N84S	probably benign	Het
Ptprh	T	A	7: 4,583,929 (GRCm39)	Y221F	probably damaging	Het
Qsox2	A	G	2: 26,110,731 (GRCm39)	Y162H	probably benign	Het
Rab2a	C	T	4: 8,572,553 (GRCm39)	T49M	possibly damaging	Het
Ring1	A	G	17: 34,242,122 (GRCm39)	S96P	possibly damaging	Het
Ripk3	A	G	14: 56,022,691 (GRCm39)	F411S	probably benign	Het
Rock1	T	C	18: 10,070,619 (GRCm39)		probably null	Het
Rtn4rl1	A	G	11: 75,156,645 (GRCm39)	N359S	probably damaging	Het
Sufu	A	G	19: 46,413,481 (GRCm39)	T76A	probably damaging	Het
Sugct	C	A	13: 17,627,053 (GRCm39)	V267F	probably damaging	Het
Tnfsf18	A	T	1: 161,331,158 (GRCm39)	I103L	probably benign	Het
Vwf	A	G	6: 125,654,879 (GRCm39)	E2525G	probably benign	Het

Other mutations in Tcf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Tcf4	APN	18	69,788,090 (GRCm39)	missense	probably damaging	1.00
IGL02131:Tcf4	APN	18	69,697,697 (GRCm39)	splice site	probably benign
IGL02221:Tcf4	APN	18	69,480,438 (GRCm39)	missense	probably damaging	1.00
IGL02560:Tcf4	APN	18	69,776,093 (GRCm39)	unclassified	probably benign
IGL02637:Tcf4	APN	18	69,480,421 (GRCm39)	missense	probably damaging	1.00
IGL03056:Tcf4	APN	18	69,784,283 (GRCm39)	splice site	probably benign
R0374:Tcf4	UTSW	18	69,814,883 (GRCm39)	splice site	probably benign
R1265:Tcf4	UTSW	18	69,776,003 (GRCm39)	missense	possibly damaging	0.93
R1739:Tcf4	UTSW	18	69,776,041 (GRCm39)	missense	probably damaging	1.00
R1794:Tcf4	UTSW	18	69,790,924 (GRCm39)	missense	probably benign	0.44
R4703:Tcf4	UTSW	18	69,790,981 (GRCm39)	missense	probably damaging	1.00
R4735:Tcf4	UTSW	18	69,697,226 (GRCm39)	missense	possibly damaging	0.59
R4993:Tcf4	UTSW	18	69,814,840 (GRCm39)	missense	probably damaging	1.00
R5191:Tcf4	UTSW	18	69,775,954 (GRCm39)	missense	probably damaging	1.00
R5318:Tcf4	UTSW	18	69,598,501 (GRCm39)	missense	probably benign
R5634:Tcf4	UTSW	18	69,769,918 (GRCm39)	missense	possibly damaging	0.88
R6337:Tcf4	UTSW	18	69,766,651 (GRCm39)	missense	probably damaging	1.00
R6658:Tcf4	UTSW	18	69,790,873 (GRCm39)	missense	probably null	1.00
R6868:Tcf4	UTSW	18	69,790,721 (GRCm39)	splice site	probably null
R6907:Tcf4	UTSW	18	69,785,484 (GRCm39)	missense	probably damaging	1.00
R7170:Tcf4	UTSW	18	69,766,649 (GRCm39)	missense	probably damaging	1.00
R7235:Tcf4	UTSW	18	69,790,866 (GRCm39)	missense	probably damaging	1.00
R7431:Tcf4	UTSW	18	69,480,249 (GRCm39)	splice site	probably null
R7589:Tcf4	UTSW	18	69,815,890 (GRCm39)	makesense	probably null
R7606:Tcf4	UTSW	18	69,776,054 (GRCm39)	missense	probably damaging	0.99
R7796:Tcf4	UTSW	18	69,697,140 (GRCm39)	missense	probably benign	0.02
R8193:Tcf4	UTSW	18	69,633,994 (GRCm39)	start gained	probably benign
R8461:Tcf4	UTSW	18	69,598,501 (GRCm39)	missense	probably benign
R8746:Tcf4	UTSW	18	69,654,572 (GRCm39)	unclassified	probably benign
R8900:Tcf4	UTSW	18	69,697,761 (GRCm39)	splice site	probably benign
R9095:Tcf4	UTSW	18	69,598,464 (GRCm39)	missense	possibly damaging	0.83
R9278:Tcf4	UTSW	18	69,766,652 (GRCm39)	missense	probably damaging	1.00
R9516:Tcf4	UTSW	18	69,652,944 (GRCm39)	unclassified	probably benign
R9633:Tcf4	UTSW	18	69,726,382 (GRCm39)	intron	probably benign
R9756:Tcf4	UTSW	18	69,790,830 (GRCm39)	nonsense	probably null
R9790:Tcf4	UTSW	18	69,770,007 (GRCm39)	missense	probably damaging	1.00
R9791:Tcf4	UTSW	18	69,770,007 (GRCm39)	missense	probably damaging	1.00
Z1176:Tcf4	UTSW	18	69,726,451 (GRCm39)	intron	probably benign

Posted On

2015-04-16