Mutagenetix > Incidental Mutation

Incidental Mutation 'R4977:Tcf25'

382774

Institutional Source

Beutler Lab

Gene Symbol

Tcf25

Ensembl Gene

ENSMUSG00000001472

Gene Name

transcription factor 25 (basic helix-loop-helix)

Synonyms

1100001J13Rik, Nulp1, D8Ertd325e, 1810041K11Rik

MMRRC Submission

042572-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4977 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123373753-123403835 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123388635 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 204 (Y204H)

Ref Sequence

ENSEMBL: ENSMUSP00000148454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057934] [ENSMUST00000108840] [ENSMUST00000127664] [ENSMUST00000211932] [ENSMUST00000212470] [ENSMUST00000212569] [ENSMUST00000212571]

AlphaFold

Q8R3L2

Predicted Effect

probably benign
Transcript: ENSMUST00000057934
AA Change: Y229H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056485
Gene: ENSMUSG00000001472
AA Change: Y229H

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	34	55	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
Pfam:Tcf25	248	588	4.6e-120	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108840
AA Change: Y229H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000104468
Gene: ENSMUSG00000001472
AA Change: Y229H

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	34	55	N/A	INTRINSIC
low complexity region	124	136	N/A	INTRINSIC
Pfam:Tcf25	247	588	2.3e-113	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000211932
AA Change: Y229H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211964

Predicted Effect

probably benign
Transcript: ENSMUST00000212470
AA Change: Y204H

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000212569
AA Change: Y204H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000212571
AA Change: Y229H

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212741

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TCF25 is a member of the basic helix-loop-helix (bHLH) family of transcription factors that are important in embryonic development (Steen and Lindholm, 2008 [PubMed 18068114]).[supplied by OMIM, Sep 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 110,136,073	D910G	probably benign	Het
Amy1	C	T	3: 113,569,377		probably null	Het
C1s2	A	G	6: 124,635,639	M19T	probably damaging	Het
Cadps2	A	G	6: 23,599,479	I276T	probably damaging	Het
Cdyl2	A	G	8: 116,575,269	C458R	probably damaging	Het
Cep112	T	C	11: 108,434,236	S35P	probably damaging	Het
Chd9	T	C	8: 91,033,708	L2027P	possibly damaging	Het
Clcn4	T	A	7: 7,291,437	I411F	probably benign	Het
Cyp3a57	T	C	5: 145,349,426		probably null	Het
Dis3l	A	C	9: 64,307,201	S919A	probably benign	Het
Dnah8	A	G	17: 30,663,301	T616A	probably benign	Het
Emx2	A	G	19: 59,459,246	T11A	probably damaging	Het
Fam160a2	A	T	7: 105,389,335	D232E	probably damaging	Het
Fbxl18	A	G	5: 142,886,085	L465P	probably damaging	Het
Fbxw27	G	A	9: 109,772,119	T311I	probably damaging	Het
Fstl5	C	T	3: 76,410,494	Q156*	probably null	Het
Ggn	G	T	7: 29,172,196	G334C	probably damaging	Het
Grik2	T	C	10: 49,132,745	N749D	probably damaging	Het
Helb	A	G	10: 120,110,881	S176P	probably benign	Het
Hyal1	A	G	9: 107,578,954	D73G	probably benign	Het
Ifi205	C	A	1: 174,015,008	R374I	probably benign	Het
Ift172	A	T	5: 31,272,116	V567D	possibly damaging	Het
Ighv1-43	A	T	12: 114,946,225	S26T	possibly damaging	Het
Il21	C	A	3: 37,232,504	S21I	probably damaging	Het
Jam3	A	G	9: 27,098,373	V309A	probably damaging	Het
Kcnh4	A	T	11: 100,746,833	L666Q	probably damaging	Het
Kcnk10	A	G	12: 98,440,687	V250A	probably benign	Het
Lama1	A	G	17: 67,737,682	Y192C	probably damaging	Het
Lamb2	G	A	9: 108,487,647	R1200H	probably damaging	Het
Lilra6	T	G	7: 3,914,383	R204S	probably benign	Het
Lrrn1	A	G	6: 107,568,707	I489V	probably benign	Het
Mdh2	T	A	5: 135,783,409	D57E	probably damaging	Het
Mfsd2a	A	G	4: 122,950,509	S282P	probably benign	Het
Midn	T	A	10: 80,150,184	I36N	probably damaging	Het
Mpped1	A	T	15: 83,796,706		probably benign	Het
Myh10	A	G	11: 68,798,371	D1258G	possibly damaging	Het
Nup62	T	C	7: 44,829,025	S155P	possibly damaging	Het
Olfr130	A	T	17: 38,067,747	H192L	possibly damaging	Het
Olfr325	A	G	11: 58,581,629	T262A	possibly damaging	Het
Olfr598	A	T	7: 103,328,833	M116L	probably benign	Het
Pex7	T	C	10: 19,869,332	T258A	probably benign	Het
Plg	A	G	17: 12,403,089	D432G	probably damaging	Het
Plxnd1	A	T	6: 115,994,376	S144T	probably damaging	Het
Prkch	T	C	12: 73,702,893	F420S	possibly damaging	Het
Psg26	A	G	7: 18,475,310	V391A	probably benign	Het
Psg29	G	A	7: 17,208,631	G186R	probably damaging	Het
Rev3l	T	A	10: 39,823,578	I1357K	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,916		probably benign	Het
Runx1	T	A	16: 92,644,347		probably null	Het
Sapcd1	A	T	17: 35,026,451	S119T	possibly damaging	Het
Sema5a	T	A	15: 32,679,186	N870K	probably damaging	Het
Serpina3f	G	A	12: 104,217,055	E59K	probably benign	Het
Slc8b1	A	G	5: 120,524,287	K299E	possibly damaging	Het
Slco1b2	G	A	6: 141,657,557	M221I	probably benign	Het
Smg5	C	T	3: 88,355,725	Q812*	probably null	Het
Smr3a	T	G	5: 88,008,103		probably null	Het
Syt9	G	A	7: 107,504,272	D426N	probably damaging	Het
Tmeff2	T	A	1: 50,979,556	C232*	probably null	Het
Tmem184a	C	A	5: 139,808,002	G219V	probably null	Het
Tnc	G	T	4: 64,006,248	T1071K	possibly damaging	Het
Tnn	C	A	1: 160,120,618	G842W	probably damaging	Het
Tshz3	T	A	7: 36,771,190	I868N	probably benign	Het
Ulbp1	C	T	10: 7,447,391	R238H	probably benign	Het
Ushbp1	C	T	8: 71,395,049		probably null	Het
Usp34	G	C	11: 23,488,982	D3515H	probably damaging	Het
Wdr91	T	C	6: 34,910,791	E10G	probably damaging	Het
Xdh	A	T	17: 73,898,970	F1016L	probably benign	Het
Zfp235	T	G	7: 24,142,184	I676S	possibly damaging	Het
Zfp619	G	A	7: 39,537,387	C947Y	probably damaging	Het
Zfp663	A	G	2: 165,353,811	S163P	probably damaging	Het
Zfp93	A	G	7: 24,275,411	I274V	probably benign	Het
Zswim4	C	T	8: 84,226,667		probably null	Het

Other mutations in Tcf25

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01790:Tcf25	APN	8	123393236	missense	possibly damaging	0.87
IGL02638:Tcf25	APN	8	123399292	missense	probably damaging	1.00
IGL03112:Tcf25	APN	8	123382519	splice site	probably benign
R0492:Tcf25	UTSW	8	123381464	missense	probably benign	0.00
R1081:Tcf25	UTSW	8	123381473	missense	probably benign	0.00
R1543:Tcf25	UTSW	8	123388587	missense	probably benign	0.01
R1634:Tcf25	UTSW	8	123397091	missense	possibly damaging	0.68
R1662:Tcf25	UTSW	8	123381550	missense	probably benign	0.00
R2253:Tcf25	UTSW	8	123374033	missense	probably benign	0.21
R4326:Tcf25	UTSW	8	123401143	nonsense	probably null
R4327:Tcf25	UTSW	8	123401143	nonsense	probably null
R4667:Tcf25	UTSW	8	123397025	missense	possibly damaging	0.89
R5248:Tcf25	UTSW	8	123373939	missense	probably damaging	1.00
R5249:Tcf25	UTSW	8	123388633	missense	probably damaging	1.00
R5759:Tcf25	UTSW	8	123381457	missense	probably benign	0.00
R5806:Tcf25	UTSW	8	123381504	missense	probably benign	0.09
R5813:Tcf25	UTSW	8	123395615	splice site	probably null
R5905:Tcf25	UTSW	8	123381437	missense	possibly damaging	0.78
R6028:Tcf25	UTSW	8	123381437	missense	possibly damaging	0.78
R6114:Tcf25	UTSW	8	123384375	missense	probably damaging	1.00
R6349:Tcf25	UTSW	8	123391593	missense	probably damaging	1.00
R6904:Tcf25	UTSW	8	123400698	critical splice donor site	probably null
R7232:Tcf25	UTSW	8	123401061	splice site	probably null
R7287:Tcf25	UTSW	8	123373972	missense	possibly damaging	0.74
R9062:Tcf25	UTSW	8	123389709	missense
R9135:Tcf25	UTSW	8	123381443	missense	probably benign	0.00
R9396:Tcf25	UTSW	8	123401092	missense	probably benign	0.00
RF007:Tcf25	UTSW	8	123395630	missense	probably benign	0.03
Z1176:Tcf25	UTSW	8	123373906	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTGCAGCTTGACTTTCACAG -3'
(R):5'- ATACTTTTCCATGCCATAGAGCC -3'

Sequencing Primer
(F):5'- TCACAGTTCCCGTGGGCATTAG -3'
(R):5'- GCAAGGCTATTTACTGCATGC -3'

Posted On

2016-04-27