Mutagenetix > Incidental Mutation

Incidental Mutation 'R1888:Tcf12'

308184

Institutional Source

Beutler Lab

Gene Symbol

Tcf12

Ensembl Gene

ENSMUSG00000032228

Gene Name

transcription factor 12

Synonyms

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

MMRRC Submission

039909-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1888 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71751534-72019611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71765816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 541 (D541E)

Ref Sequence

ENSEMBL: ENSMUSP00000138925 (fasta)

Gene Model

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

AlphaFold

Q61286

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034755
AA Change: D541E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: D541E

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: D565E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: D565E

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: D395E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: D395E

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

SMART Domains

Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228

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: D371E

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: D371E

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

possibly damaging
Transcript: ENSMUST00000184523
AA Change: D561E

PolyPhen 2 Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: D561E

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: D565E

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: D565E

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

possibly damaging
Transcript: ENSMUST00000185117
AA Change: D541E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: D541E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184867

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (65/65)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	A	G	12: 72,960,030 (GRCm39)	M80T	unknown	Het
4930578I06Rik	A	G	14: 64,223,632 (GRCm39)	L48P	probably damaging	Het
Abcc9	A	G	6: 142,625,040 (GRCm39)	S452P	probably benign	Het
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Adgrf5	T	G	17: 43,737,896 (GRCm39)		probably null	Het
Adgrl4	A	G	3: 151,144,914 (GRCm39)	N21S	probably benign	Het
Adss2	A	T	1: 177,612,517 (GRCm39)	Y77*	probably null	Het
Ahnak	A	T	19: 8,984,452 (GRCm39)	D1912V	probably damaging	Het
Ahnak2	A	G	12: 112,740,325 (GRCm39)	M1249T	possibly damaging	Het
Akap6	A	T	12: 53,188,958 (GRCm39)	D2124V	possibly damaging	Het
Ankrd28	A	T	14: 31,453,982 (GRCm39)		probably benign	Het
Bbs12	C	A	3: 37,374,712 (GRCm39)	L387I	probably damaging	Het
BC023105	T	C	18: 60,575,571 (GRCm39)		noncoding transcript	Het
Ciita	T	C	16: 10,328,948 (GRCm39)	Y411H	probably damaging	Het
Ckb	TCCACCACCA	TCCACCA	12: 111,636,079 (GRCm39)		probably benign	Het
Clec9a	G	A	6: 129,387,249 (GRCm39)	V35I	probably benign	Het
Cntn5	T	A	9: 9,984,082 (GRCm39)	Q382L	possibly damaging	Het
Cracdl	T	C	1: 37,663,364 (GRCm39)	K845E	possibly damaging	Het
Dock2	A	T	11: 34,598,169 (GRCm39)	I334N	probably damaging	Het
Dock9	G	T	14: 121,862,617 (GRCm39)	T833K	probably benign	Het
Drd2	G	A	9: 49,313,442 (GRCm39)	V204I	probably benign	Het
Fam120a	A	T	13: 49,039,342 (GRCm39)	I938N	possibly damaging	Het
Fndc1	T	C	17: 7,990,621 (GRCm39)	E1025G	unknown	Het
Fsip2	G	A	2: 82,774,504 (GRCm39)	D64N	probably benign	Het
Gm14496	T	A	2: 181,641,989 (GRCm39)	C553*	probably null	Het
Gm15587	C	G	5: 24,572,467 (GRCm39)		probably benign	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gvin3	A	T	7: 106,196,630 (GRCm39)		noncoding transcript	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Hmcn1	C	G	1: 150,695,251 (GRCm39)	A218P	possibly damaging	Het
Hpgds	A	G	6: 65,115,217 (GRCm39)	F22S	probably damaging	Het
Il5ra	T	A	6: 106,708,874 (GRCm39)	N289Y	probably damaging	Het
Ilf2	T	C	3: 90,394,767 (GRCm39)		probably benign	Het
Irf2	A	T	8: 47,260,388 (GRCm39)	R107*	probably null	Het
Kcnk6	T	C	7: 28,925,075 (GRCm39)	I180M	probably benign	Het
Krtap5-3	G	A	7: 141,755,979 (GRCm39)		probably benign	Het
Lrig1	C	T	6: 94,631,859 (GRCm39)	A114T	probably benign	Het
Lrrc37a	A	G	11: 103,389,587 (GRCm39)	V1946A	probably benign	Het
Lrrc8b	T	C	5: 105,629,217 (GRCm39)	V521A	probably benign	Het
Macf1	T	G	4: 123,348,835 (GRCm39)	I2154L	possibly damaging	Het
Macf1	C	A	4: 123,368,505 (GRCm39)	E2085D	probably benign	Het
Maml1	C	T	11: 50,157,468 (GRCm39)	A236T	probably benign	Het
Mdc1	C	A	17: 36,165,117 (GRCm39)	T1481K	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Homo
Med24	A	G	11: 98,598,108 (GRCm39)		probably benign	Het
Mfap3l	T	C	8: 61,124,424 (GRCm39)	V222A	possibly damaging	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mpped2	T	C	2: 106,529,790 (GRCm39)	I13T	probably benign	Het
Mthfd1l	C	A	10: 4,056,528 (GRCm39)	T948K	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mtx3	A	G	13: 92,984,191 (GRCm39)	E156G	probably benign	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myh2	G	A	11: 67,071,676 (GRCm39)	V498M	probably damaging	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Myo1b	T	A	1: 51,799,562 (GRCm39)		probably null	Het
Ndufa2	T	A	18: 36,877,573 (GRCm39)		probably benign	Het
Nipal2	T	C	15: 34,625,167 (GRCm39)	I129M	possibly damaging	Het
Nt5dc3	A	G	10: 86,669,926 (GRCm39)	N507S	possibly damaging	Het
Or4b12	A	G	2: 90,095,913 (GRCm39)	L287P	probably damaging	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pcdhb17	G	A	18: 37,620,438 (GRCm39)		probably null	Het
Pcyt2	A	G	11: 120,508,677 (GRCm39)	M1T	probably null	Het
Pear1	C	A	3: 87,717,882 (GRCm39)		probably benign	Het
Pla2g2d	T	C	4: 138,503,126 (GRCm39)	M1T	probably null	Het
Plekhg6	T	C	6: 125,340,306 (GRCm39)	T685A	probably damaging	Het
Pramel19	T	A	4: 101,798,335 (GRCm39)	V102E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Homo
Pxk	T	C	14: 8,151,540 (GRCm38)	S452P	probably damaging	Het
Rab42	A	T	4: 132,030,529 (GRCm39)	D40E	probably benign	Het
Rapgef6	A	C	11: 54,551,654 (GRCm39)	T836P	probably damaging	Het
Rtn1	A	G	12: 72,283,307 (GRCm39)		probably benign	Het
Serpina3a	A	G	12: 104,082,362 (GRCm39)	D45G	probably benign	Het
Slco6b1	A	G	1: 96,849,786 (GRCm39)		noncoding transcript	Het
Smad9	CTTT	CTT	3: 54,696,600 (GRCm39)		probably benign	Het
Sntb1	T	A	15: 55,612,745 (GRCm39)	R278*	probably null	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Stk40	T	A	4: 126,019,538 (GRCm39)	L90Q	probably damaging	Het
Syk	A	G	13: 52,794,826 (GRCm39)	Y520C	probably damaging	Het
Syngr2	G	A	11: 117,704,224 (GRCm39)	V170M	possibly damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlr4	T	C	4: 66,759,409 (GRCm39)	V734A	probably damaging	Het
Tmem132a	T	C	19: 10,840,863 (GRCm39)	E389G	probably damaging	Het
Tmem150b	A	G	7: 4,712,044 (GRCm39)	I112T	probably benign	Het
Tmod1	C	T	4: 46,097,069 (GRCm39)		silent	Het
Trbc1	G	A	6: 41,512,570 (GRCm39)		probably benign	Het
Tril	A	G	6: 53,796,577 (GRCm39)	L215P	probably damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Ttn	G	A	2: 76,623,151 (GRCm39)	P15429S	probably damaging	Het
Ttn	T	A	2: 76,706,302 (GRCm39)		probably benign	Het
Tubgcp2	A	G	7: 139,579,183 (GRCm39)	V701A	probably damaging	Het
Tubgcp2	A	G	7: 139,586,069 (GRCm39)	F407L	probably damaging	Het
Usp45	T	C	4: 21,784,811 (GRCm39)		probably benign	Het
Vmn1r30	A	C	6: 58,412,475 (GRCm39)	L119R	possibly damaging	Het
Washc5	A	C	15: 59,231,174 (GRCm39)	L363R	probably damaging	Het
Zan	T	C	5: 137,387,590 (GRCm39)	T4874A	unknown	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het
Zfp512b	C	A	2: 181,230,235 (GRCm39)	R497L	probably damaging	Het
Zmat4	A	G	8: 24,505,177 (GRCm39)	N139S	probably damaging	Het
Zng1	A	T	19: 24,932,769 (GRCm39)	V88D	probably damaging	Het

Other mutations in Tcf12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Tcf12	APN	9	71,775,400 (GRCm39)	missense	probably damaging	0.98
IGL01311:Tcf12	APN	9	71,765,938 (GRCm39)	splice site	probably benign
IGL01734:Tcf12	APN	9	71,829,930 (GRCm39)	splice site	probably null
IGL01768:Tcf12	APN	9	71,776,278 (GRCm39)	splice site	probably null
IGL02625:Tcf12	APN	9	71,830,039 (GRCm39)	missense	probably damaging	1.00
IGL02671:Tcf12	APN	9	72,016,999 (GRCm39)	missense	probably damaging	1.00
IGL03395:Tcf12	APN	9	71,783,304 (GRCm39)	missense	probably damaging	1.00
Beneath	UTSW	9	71,790,385 (GRCm39)	splice site	probably null
depauperate	UTSW	9	71,775,550 (GRCm39)	missense	probably damaging	1.00
Poorly	UTSW	9	71,851,298 (GRCm39)	nonsense	probably null
Poorly2	UTSW	9	71,766,211 (GRCm39)	missense	probably damaging	1.00
Poorly3	UTSW	9	71,922,918 (GRCm39)	critical splice donor site	probably null
Substandard	UTSW	9	71,766,122 (GRCm39)	missense	probably null	0.54
R0183:Tcf12	UTSW	9	71,824,309 (GRCm39)	missense	probably damaging	0.99
R0257:Tcf12	UTSW	9	71,765,904 (GRCm39)	missense	probably benign	0.05
R1126:Tcf12	UTSW	9	71,907,715 (GRCm39)	missense	probably benign	0.09
R1520:Tcf12	UTSW	9	71,790,388 (GRCm39)	critical splice donor site	probably null
R1690:Tcf12	UTSW	9	71,777,354 (GRCm39)	critical splice donor site	probably null
R1819:Tcf12	UTSW	9	72,016,999 (GRCm39)	missense	probably damaging	1.00
R1850:Tcf12	UTSW	9	71,775,497 (GRCm39)	missense	probably damaging	1.00
R1888:Tcf12	UTSW	9	71,765,816 (GRCm39)	missense	possibly damaging	0.89
R2402:Tcf12	UTSW	9	71,763,792 (GRCm39)	missense	probably damaging	1.00
R4445:Tcf12	UTSW	9	71,776,345 (GRCm39)	missense	probably damaging	0.99
R4693:Tcf12	UTSW	9	71,776,249 (GRCm39)	intron	probably benign
R4814:Tcf12	UTSW	9	71,777,323 (GRCm39)	intron	probably benign
R4860:Tcf12	UTSW	9	71,766,122 (GRCm39)	missense	probably null	0.54
R4860:Tcf12	UTSW	9	71,766,122 (GRCm39)	missense	probably null	0.54
R4885:Tcf12	UTSW	9	71,766,122 (GRCm39)	missense	probably null	0.54
R5347:Tcf12	UTSW	9	71,792,525 (GRCm39)	missense	probably damaging	1.00
R5422:Tcf12	UTSW	9	71,776,320 (GRCm39)	missense	probably damaging	1.00
R5650:Tcf12	UTSW	9	71,792,584 (GRCm39)	splice site	probably null
R5713:Tcf12	UTSW	9	71,792,545 (GRCm39)	makesense	probably null
R5789:Tcf12	UTSW	9	71,792,518 (GRCm39)	missense	probably damaging	1.00
R5964:Tcf12	UTSW	9	71,775,522 (GRCm39)	missense	probably damaging	1.00
R6012:Tcf12	UTSW	9	71,766,229 (GRCm39)	missense	possibly damaging	0.62
R6119:Tcf12	UTSW	9	71,775,547 (GRCm39)	missense	probably damaging	1.00
R6240:Tcf12	UTSW	9	71,851,298 (GRCm39)	nonsense	probably null
R6299:Tcf12	UTSW	9	71,766,211 (GRCm39)	missense	probably damaging	1.00
R6449:Tcf12	UTSW	9	71,775,550 (GRCm39)	missense	probably damaging	1.00
R6489:Tcf12	UTSW	9	71,922,918 (GRCm39)	critical splice donor site	probably null
R6984:Tcf12	UTSW	9	71,914,041 (GRCm39)	nonsense	probably null
R7146:Tcf12	UTSW	9	71,790,385 (GRCm39)	splice site	probably null
R7734:Tcf12	UTSW	9	71,829,943 (GRCm39)	missense	probably benign	0.00
R8007:Tcf12	UTSW	9	71,841,905 (GRCm39)	intron	probably benign
R8161:Tcf12	UTSW	9	71,922,933 (GRCm39)	missense	probably damaging	1.00
R8709:Tcf12	UTSW	9	71,830,069 (GRCm39)	missense	probably benign	0.00
R8709:Tcf12	UTSW	9	71,765,787 (GRCm39)	missense	possibly damaging	0.62
R8711:Tcf12	UTSW	9	71,757,097 (GRCm39)	missense	possibly damaging	0.77
R9444:Tcf12	UTSW	9	72,018,040 (GRCm39)	missense	probably damaging	1.00
R9667:Tcf12	UTSW	9	71,792,443 (GRCm39)	missense	probably benign	0.00
X0021:Tcf12	UTSW	9	71,790,454 (GRCm39)	missense	probably damaging	0.99
X0022:Tcf12	UTSW	9	72,017,025 (GRCm39)	missense	probably damaging	0.99
Z1177:Tcf12	UTSW	9	71,907,742 (GRCm39)	missense	possibly damaging	0.76

Predicted Primers

Posted On

2015-04-17