Mutagenetix > Incidental Mutation

Incidental Mutation 'R7734:Tcf12'

596062

Institutional Source

Beutler Lab

Gene Symbol

Tcf12

Ensembl Gene

ENSMUSG00000032228

Gene Name

transcription factor 12

Synonyms

HTF-4, ALF1, HEB, bHLHb20, HEBAlt, REB, HTF4, ME1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7734 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71842688-72111871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 71922661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 173 (V173L)

Ref Sequence

ENSEMBL: ENSMUSP00000139365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183492] [ENSMUST00000183594] [ENSMUST00000183992] [ENSMUST00000184072] [ENSMUST00000184107] [ENSMUST00000184416] [ENSMUST00000184523] [ENSMUST00000184783] [ENSMUST00000184867] [ENSMUST00000185117]

AlphaFold

Q61286

Predicted Effect

probably benign
Transcript: ENSMUST00000034755
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: V173L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	177	200	7e-8	PDB
low complexity region	208	219	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
HLH	607	660	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183404
AA Change: V173L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: V173L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	177	200	7e-8	PDB
low complexity region	208	219	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
HLH	607	660	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183492

SMART Domains

Protein: ENSMUSP00000138939
Gene: ENSMUSG00000032228

Domain	Start	End	E-Value	Type
low complexity region	89	100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183594

Predicted Effect

probably benign
Transcript: ENSMUST00000183647

Predicted Effect

probably benign
Transcript: ENSMUST00000183992
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: V173L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	177	200	5e-8	PDB
low complexity region	208	219	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184072
AA Change: V81L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139284
Gene: ENSMUSG00000032228
AA Change: V81L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	85	108	4e-8	PDB
low complexity region	116	127	N/A	INTRINSIC
low complexity region	164	180	N/A	INTRINSIC
low complexity region	260	271	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184107

Predicted Effect

probably benign
Transcript: ENSMUST00000184416

Predicted Effect

probably benign
Transcript: ENSMUST00000184523
AA Change: V169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: V169L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	173	196	6e-8	PDB
low complexity region	204	215	N/A	INTRINSIC
low complexity region	252	268	N/A	INTRINSIC
low complexity region	348	359	N/A	INTRINSIC
low complexity region	554	568	N/A	INTRINSIC
HLH	603	656	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184783
AA Change: V173L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: V173L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	177	200	7e-8	PDB
low complexity region	208	219	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	558	572	N/A	INTRINSIC
HLH	607	660	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184867

Predicted Effect

probably benign
Transcript: ENSMUST00000185117
AA Change: V173L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: V173L

Domain	Start	End	E-Value	Type
PDB:4JOL\|H	177	200	7e-8	PDB
low complexity region	208	219	N/A	INTRINSIC
low complexity region	256	272	N/A	INTRINSIC
low complexity region	352	363	N/A	INTRINSIC
low complexity region	534	548	N/A	INTRINSIC
HLH	583	636	7.54e-10	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH) E-protein family that recognizes the consensus binding site (E-box) CANNTG. This encoded protein is expressed in many tissues, among them skeletal muscle, thymus, B- and T-cells, and may participate in regulating lineage-specific gene expression through the formation of heterodimers with other bHLH E-proteins. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit postnatal lethality within two weeks of birth and a 50% reduction in the number of pro-B cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	T	A	18: 12,189,263	I591N	possibly damaging	Het
Anxa2	T	C	9: 69,491,482	Y333H	probably benign	Het
Arid1a	A	T	4: 133,681,368	F1558I	unknown	Het
Aste1	A	G	9: 105,397,479	D306G	probably damaging	Het
Atp2a2	A	G	5: 122,458,527	V843A	possibly damaging	Het
Atrip	T	A	9: 109,065,506	H451L	probably benign	Het
Cdc42bpb	T	C	12: 111,329,230	D200G	probably damaging	Het
Ceacam19	A	C	7: 19,886,595	M37R	probably benign	Het
Cemip	G	A	7: 83,957,664	R782*	probably null	Het
Cpe	A	T	8: 64,617,620	I197N	probably benign	Het
Csmd2	C	A	4: 128,552,057	P3307T		Het
Cyp4a12b	C	A	4: 115,411,740	Q20K	possibly damaging	Het
Dcaf1	T	C	9: 106,838,679	Y332H	probably damaging	Het
Dclk3	A	G	9: 111,469,095	H569R	probably damaging	Het
Dcp1b	A	G	6: 119,215,283	S387G	probably benign	Het
Ddx24	A	G	12: 103,417,560	M590T	possibly damaging	Het
Dixdc1	T	G	9: 50,701,968	Q229P	probably damaging	Het
Dnase1l3	T	C	14: 7,977,144	R181G	probably benign	Het
Dzip1l	A	T	9: 99,667,682	D735V	probably damaging	Het
Edem3	T	C	1: 151,818,585	S890P	probably benign	Het
Fuom	A	G	7: 140,099,542	L155P	unknown	Het
Gm6408	C	A	5: 146,484,350	S263*	probably null	Het
Helz	C	G	11: 107,685,422	S1814R	unknown	Het
Hrc	T	C	7: 45,336,676	L417P	probably benign	Het
Igdcc4	A	C	9: 65,131,753	H894P	probably damaging	Het
Lgr6	C	A	1: 135,003,243	V296L	probably damaging	Het
Map3k4	T	A	17: 12,264,111	Y573F	probably damaging	Het
Mest	T	C	6: 30,746,300	Y296H	unknown	Het
Mettl21a	C	T	1: 64,608,129	V90M	probably damaging	Het
Mfsd4b1	A	T	10: 40,007,378	N25K	probably damaging	Het
Mmd	T	A	11: 90,276,753	F203I	probably damaging	Het
Myo15	G	A	11: 60,510,282	V3028M	probably benign	Het
Nlrp1a	T	A	11: 71,108,000	N859I	unknown	Het
Nrcam	T	C	12: 44,537,251	L36P	possibly damaging	Het
Nup107	C	A	10: 117,758,012	E759*	probably null	Het
Olfr305	A	G	7: 86,364,268	I23T	not run	Het
Pcdh7	T	G	5: 57,719,634	I177S	probably damaging	Het
Pde6a	T	C	18: 61,232,866	I221T	probably benign	Het
Ptpn13	A	T	5: 103,561,962	N1497I	probably damaging	Het
Rpl4	T	A	9: 64,177,379	H245Q	probably benign	Het
Rsf1	C	CCACGGCGGG	7: 97,579,908		probably benign	Het
Scara5	A	G	14: 65,731,151	D291G	possibly damaging	Het
Sept14	T	A	5: 129,683,519	I422L	probably benign	Het
Serpina1e	T	C	12: 103,950,892	K173E	probably benign	Het
Slc5a1	C	T	5: 33,160,935	T644I	probably benign	Het
Slc6a13	A	T	6: 121,337,375	T590S	probably benign	Het
Smarca4	C	T	9: 21,667,362	T938I	possibly damaging	Het
Stxbp1	A	T	2: 32,801,820	D453E	probably benign	Het
Tenm3	A	G	8: 48,646,333	C146R	probably damaging	Het
Trim11	T	C	11: 58,978,354	C39R	probably damaging	Het
Trim37	A	G	11: 87,177,995	Y389C	probably damaging	Het
Ttll8	C	T	15: 88,914,165	G789D	probably damaging	Het
Tubb2a	C	T	13: 34,074,793	S338N	probably benign	Het
Ulk2	G	A	11: 61,853,301	Q50*	probably null	Het
Urgcp	T	C	11: 5,716,406	D687G	probably benign	Het
Usp13	C	T	3: 32,837,905	H78Y	probably benign	Het
Vmn2r100	T	A	17: 19,522,034	D223E	probably benign	Het
Vwc2	G	A	11: 11,115,929	A6T	possibly damaging	Het

Other mutations in Tcf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Tcf12	APN	9	71868118	missense	probably damaging	0.98
IGL01311:Tcf12	APN	9	71858656	splice site	probably benign
IGL01734:Tcf12	APN	9	71922648	splice site	probably null
IGL01768:Tcf12	APN	9	71868996	splice site	probably null
IGL02625:Tcf12	APN	9	71922757	missense	probably damaging	1.00
IGL02671:Tcf12	APN	9	72109717	missense	probably damaging	1.00
IGL03395:Tcf12	APN	9	71876022	missense	probably damaging	1.00
Beneath	UTSW	9	71883103	splice site	probably null
depauperate	UTSW	9	71868268	missense	probably damaging	1.00
Poorly	UTSW	9	71944016	nonsense	probably null
Poorly2	UTSW	9	71858929	missense	probably damaging	1.00
Poorly3	UTSW	9	72015636	critical splice donor site	probably null
Substandard	UTSW	9	71858840	missense	probably null	0.54
R0183:Tcf12	UTSW	9	71917027	missense	probably damaging	0.99
R0257:Tcf12	UTSW	9	71858622	missense	probably benign	0.05
R1126:Tcf12	UTSW	9	72000433	missense	probably benign	0.09
R1520:Tcf12	UTSW	9	71883106	critical splice donor site	probably null
R1690:Tcf12	UTSW	9	71870072	critical splice donor site	probably null
R1819:Tcf12	UTSW	9	72109717	missense	probably damaging	1.00
R1850:Tcf12	UTSW	9	71868215	missense	probably damaging	1.00
R1888:Tcf12	UTSW	9	71858534	missense	possibly damaging	0.89
R1888:Tcf12	UTSW	9	71858534	missense	possibly damaging	0.89
R2402:Tcf12	UTSW	9	71856510	missense	probably damaging	1.00
R4445:Tcf12	UTSW	9	71869063	missense	probably damaging	0.99
R4693:Tcf12	UTSW	9	71868967	intron	probably benign
R4814:Tcf12	UTSW	9	71870041	intron	probably benign
R4860:Tcf12	UTSW	9	71858840	missense	probably null	0.54
R4860:Tcf12	UTSW	9	71858840	missense	probably null	0.54
R4885:Tcf12	UTSW	9	71858840	missense	probably null	0.54
R5347:Tcf12	UTSW	9	71885243	missense	probably damaging	1.00
R5422:Tcf12	UTSW	9	71869038	missense	probably damaging	1.00
R5650:Tcf12	UTSW	9	71885302	splice site	probably null
R5713:Tcf12	UTSW	9	71885263	makesense	probably null
R5789:Tcf12	UTSW	9	71885236	missense	probably damaging	1.00
R5964:Tcf12	UTSW	9	71868240	missense	probably damaging	1.00
R6012:Tcf12	UTSW	9	71858947	missense	possibly damaging	0.62
R6119:Tcf12	UTSW	9	71868265	missense	probably damaging	1.00
R6240:Tcf12	UTSW	9	71944016	nonsense	probably null
R6299:Tcf12	UTSW	9	71858929	missense	probably damaging	1.00
R6449:Tcf12	UTSW	9	71868268	missense	probably damaging	1.00
R6489:Tcf12	UTSW	9	72015636	critical splice donor site	probably null
R6984:Tcf12	UTSW	9	72006759	nonsense	probably null
R7146:Tcf12	UTSW	9	71883103	splice site	probably null
R8007:Tcf12	UTSW	9	71934623	intron	probably benign
R8161:Tcf12	UTSW	9	72015651	missense	probably damaging	1.00
R8709:Tcf12	UTSW	9	71858505	missense	possibly damaging	0.62
R8709:Tcf12	UTSW	9	71922787	missense	probably benign	0.00
R8711:Tcf12	UTSW	9	71849815	missense	possibly damaging	0.77
R9444:Tcf12	UTSW	9	72110758	missense	probably damaging	1.00
R9667:Tcf12	UTSW	9	71885161	missense	probably benign	0.00
X0021:Tcf12	UTSW	9	71883172	missense	probably damaging	0.99
X0022:Tcf12	UTSW	9	72109743	missense	probably damaging	0.99
Z1177:Tcf12	UTSW	9	72000460	missense	possibly damaging	0.76

Predicted Primers

PCR Primer
(F):5'- TTTGGATTGGGAATACTCAGCC -3'
(R):5'- AATTTCAAGGCATCGATTCAGG -3'

Sequencing Primer
(F):5'- CCCTGACTTCCAAATGATGA -3'
(R):5'- TGACGAGCTTGATCATTAGCAGC -3'

Posted On

2019-11-12