Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Tcf12'

34789

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

038488-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71842688-72111871 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71858622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 512 (S512N)

Ref Sequence

ENSEMBL: ENSMUSP00000138925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034755] [ENSMUST00000183404] [ENSMUST00000183918] [ENSMUST00000183992] [ENSMUST00000184448] [ENSMUST00000184523] [ENSMUST00000184783] [ENSMUST00000184867] [ENSMUST00000185117]

AlphaFold

Q61286

Predicted Effect

probably benign
Transcript: ENSMUST00000034755
AA Change: S512N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: S512N

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: S536N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: S536N

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: ENSMUST00000183918
AA Change: S366N

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

SMART Domains

Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: S366N

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
low complexity region	182	193	N/A	INTRINSIC
low complexity region	388	402	N/A	INTRINSIC
HLH	437	490	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183992
AA Change: S512N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: S512N

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: ENSMUST00000184448
AA Change: S342N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: S342N

Domain	Start	End	E-Value	Type
low complexity region	38	49	N/A	INTRINSIC
low complexity region	86	102	N/A	INTRINSIC
low complexity region	182	193	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
HLH	413	466	7.54e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184523
AA Change: S532N

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: S532N

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

noncoding transcript
Transcript: ENSMUST00000184770

Predicted Effect

probably benign
Transcript: ENSMUST00000184783
AA Change: S536N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: S536N

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: S512N

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: S512N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195551

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	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
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
R7734:Tcf12	UTSW	9	71922661	missense	probably benign	0.00
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
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'- TACCACAGCCTGGCACCTAGAATG -3'
(R):5'- ACAGACTTTCCCTTGCCTCCAGAAG -3'

Sequencing Primer
(F):5'- TTATGAACGCATGTCCTAAGCC -3'
(R):5'- TGCCTCCAGAAGGTTTCTAACAG -3'

Posted On

2013-05-09