Mutagenetix > Incidental Mutation

Incidental Mutation 'R4860:Tcf12'

380190

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

042471-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4860 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71751534-72019611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 71766122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 504 (G504S)

Ref Sequence

ENSEMBL: ENSMUSP00000139084 (fasta)

Gene Model

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

AlphaFold

Q61286

Predicted Effect

probably null
Transcript: ENSMUST00000034755
AA Change: G504S

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

SMART Domains

Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: G504S

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 null
Transcript: ENSMUST00000183404
AA Change: G528S

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

SMART Domains

Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: G528S

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 null
Transcript: ENSMUST00000183918
AA Change: G358S

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: G358S

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 null
Transcript: ENSMUST00000183992
AA Change: G504S

PolyPhen 2 Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: G504S

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 null
Transcript: ENSMUST00000184448
AA Change: G334S

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: G334S

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 null
Transcript: ENSMUST00000184523
AA Change: G524S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: G524S

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 null
Transcript: ENSMUST00000185117
AA Change: G504S

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

SMART Domains

Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: G504S

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

probably null
Transcript: ENSMUST00000184783
AA Change: G528S

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

SMART Domains

Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: G528S

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

noncoding transcript
Transcript: ENSMUST00000195551

Meta Mutation Damage Score

0.1629

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

94% (98/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,209,267 (GRCm39)	S466P	possibly damaging	Het
Ablim1	T	C	19: 57,068,298 (GRCm39)	T267A	probably damaging	Het
Acap2	A	T	16: 30,922,317 (GRCm39)	L724Q	possibly damaging	Het
Acsbg3	A	G	17: 57,195,655 (GRCm39)	N684S	probably benign	Het
Adcy4	T	C	14: 56,019,384 (GRCm39)	T89A	possibly damaging	Het
Agrp	T	C	8: 106,294,000 (GRCm39)	E41G	probably benign	Het
Ajm1	T	C	2: 25,468,765 (GRCm39)	Y382C	probably damaging	Het
Akap9	G	A	5: 4,084,916 (GRCm39)		probably benign	Het
Akr1d1	G	A	6: 37,541,426 (GRCm39)	V308M	probably damaging	Het
Ap1m2	C	T	9: 21,220,970 (GRCm39)	R54Q	probably benign	Het
Arhgap45	T	A	10: 79,862,900 (GRCm39)	V692E	probably damaging	Het
Arid5b	G	T	10: 68,078,925 (GRCm39)	N137K	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
BC048679	T	C	7: 81,145,468 (GRCm39)	N27D	probably benign	Het
Ccdc78	A	G	17: 26,007,674 (GRCm39)	N237S	probably benign	Het
Cd46	G	A	1: 194,744,704 (GRCm39)	L345F	possibly damaging	Het
Cngb3	A	T	4: 19,425,569 (GRCm39)	N459I	possibly damaging	Het
Ctnnd2	A	G	15: 30,881,313 (GRCm39)	E731G	probably damaging	Het
Cul1	G	T	6: 47,494,080 (GRCm39)	K464N	probably benign	Het
Cul1	T	A	6: 47,494,125 (GRCm39)	S479R	probably damaging	Het
Dcaf5	A	T	12: 80,387,006 (GRCm39)	D373E	probably benign	Het
Dhcr7	A	G	7: 143,394,237 (GRCm39)	Q126R	probably benign	Het
Dnd1	C	T	18: 36,899,016 (GRCm39)		probably benign	Het
Dok2	T	C	14: 71,014,956 (GRCm39)	F228L	probably damaging	Het
Dpep3	T	G	8: 106,702,821 (GRCm39)	I314L	probably benign	Het
Eps8	A	G	6: 137,491,293 (GRCm39)	F362L	probably damaging	Het
Espn	G	T	4: 152,223,303 (GRCm39)	R250S	probably damaging	Het
Faf1	A	C	4: 109,600,093 (GRCm39)	N163H	probably damaging	Het
Fcho1	C	T	8: 72,163,125 (GRCm39)	V635I	probably benign	Het
Garin5b	C	T	7: 4,760,468 (GRCm39)		probably null	Het
Gask1b	C	A	3: 79,843,981 (GRCm39)	S36*	probably null	Het
Gm7579	G	A	7: 141,765,645 (GRCm39)	C17Y	unknown	Het
Gpx8	G	T	13: 113,182,042 (GRCm39)	Y130*	probably null	Het
Grm6	C	T	11: 50,755,439 (GRCm39)	T857M	probably benign	Het
Gvin1	A	T	7: 105,762,643 (GRCm39)	Y609N	possibly damaging	Het
Hectd4	T	A	5: 121,443,881 (GRCm39)	M30K	probably benign	Het
Ilkap	A	G	1: 91,315,105 (GRCm39)		probably benign	Het
Iqub	T	C	6: 24,450,841 (GRCm39)	D586G	probably damaging	Het
Klhl22	G	A	16: 17,594,880 (GRCm39)		silent	Het
Klhl25	T	C	7: 75,516,798 (GRCm39)	I568T	probably benign	Het
Krr1	C	T	10: 111,821,596 (GRCm39)		probably benign	Het
Larp6	A	G	9: 60,645,093 (GRCm39)	E411G	probably damaging	Het
Lepr	A	C	4: 101,646,534 (GRCm39)	I822L	probably benign	Het
Lrig3	C	A	10: 125,846,921 (GRCm39)	D896E	probably benign	Het
Lrp1	C	T	10: 127,389,693 (GRCm39)	G3114D	probably damaging	Het
Lyset	A	T	12: 102,710,314 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,380,543 (GRCm39)	Y1263N	probably damaging	Het
Mapk10	T	C	5: 103,138,485 (GRCm39)	D180G	probably damaging	Het
Matr3	T	A	18: 35,714,693 (GRCm39)	V113E	probably damaging	Het
Mbd4	A	T	6: 115,825,887 (GRCm39)	F368Y	possibly damaging	Het
Mcpt8	G	A	14: 56,319,737 (GRCm39)	R238W	probably benign	Het
Mcrip2	G	T	17: 26,083,621 (GRCm39)	T86N	possibly damaging	Het
Mink1	A	G	11: 70,502,418 (GRCm39)	N1043S	probably damaging	Het
Nbeal2	G	A	9: 110,464,262 (GRCm39)	T1128I	probably benign	Het
Nrg2	T	A	18: 36,329,600 (GRCm39)	Y205F	probably damaging	Het
Nsmce4a	A	T	7: 130,135,321 (GRCm39)		probably benign	Het
Nubp2	A	G	17: 25,103,430 (GRCm39)	M149T	probably benign	Het
Or4d2b	T	A	11: 87,780,051 (GRCm39)	M224L	probably damaging	Het
Or8d6	G	T	9: 39,853,800 (GRCm39)	M81I	probably benign	Het
Or8j3c	T	C	2: 86,253,301 (GRCm39)	T240A	probably damaging	Het
Pax3	A	G	1: 78,169,093 (GRCm39)	I191T	possibly damaging	Het
Pdcd5	T	C	7: 35,343,135 (GRCm39)	N137D	possibly damaging	Het
Pik3c2a	G	A	7: 115,939,391 (GRCm39)	A1649V	probably damaging	Het
Pik3r6	T	A	11: 68,434,879 (GRCm39)		probably benign	Het
Pkhd1l1	T	C	15: 44,400,774 (GRCm39)	S2183P	possibly damaging	Het
Plekho1	T	A	3: 95,896,305 (GRCm39)	Q388L	possibly damaging	Het
Ppfibp1	A	G	6: 146,892,012 (GRCm39)	T91A	probably benign	Het
Ptger4	G	T	15: 5,272,087 (GRCm39)	N177K	probably benign	Het
Reln	A	G	5: 22,106,749 (GRCm39)	F3207S	probably benign	Het
Rigi	G	T	4: 40,210,000 (GRCm39)	S644R	probably damaging	Het
Ripk4	C	T	16: 97,552,736 (GRCm39)	R194H	probably damaging	Het
Rnf112	A	T	11: 61,343,570 (GRCm39)	C112S	possibly damaging	Het
Rprd1b	T	G	2: 157,916,855 (GRCm39)	Y278*	probably null	Het
Sel1l	A	G	12: 91,798,376 (GRCm39)	L140P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc38a3	A	G	9: 107,532,263 (GRCm39)	V423A	probably damaging	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Slmap	A	T	14: 26,181,364 (GRCm39)	V323E	probably benign	Het
Smim6	T	C	11: 115,804,330 (GRCm39)	V39A	probably benign	Het
Snapc3	C	T	4: 83,383,134 (GRCm39)		probably benign	Het
Sorbs1	T	C	19: 40,325,449 (GRCm39)	T382A	probably benign	Het
Sparc	G	A	11: 55,290,037 (GRCm39)	T218I	possibly damaging	Het
Steap1	A	T	5: 5,786,589 (GRCm39)	F283I	probably damaging	Het
Stil	A	G	4: 114,895,671 (GRCm39)	T586A	probably benign	Het
Tango2	A	G	16: 18,128,765 (GRCm39)		silent	Het
Tbce	T	A	13: 14,194,380 (GRCm39)	D93V	probably damaging	Het
Tex55	A	G	16: 38,648,507 (GRCm39)	S201P	probably damaging	Het
Tle4	A	T	19: 14,441,709 (GRCm39)	I435K	probably benign	Het
Tmem245	A	G	4: 56,899,164 (GRCm39)	F254S	probably damaging	Het
Tubgcp3	T	C	8: 12,699,722 (GRCm39)	K377R	probably benign	Het
Ulk4	G	A	9: 121,079,968 (GRCm39)	T497M	possibly damaging	Het
Ush2a	A	T	1: 188,285,472 (GRCm39)	T2003S	probably benign	Het
Usp53	A	G	3: 122,755,012 (GRCm39)	S32P	possibly damaging	Het
Vmn1r78	T	A	7: 11,886,683 (GRCm39)	L98Q	probably damaging	Het
Vmn2r84	T	A	10: 130,221,712 (GRCm39)	D836V	probably damaging	Het
Vps13d	A	G	4: 144,813,731 (GRCm39)	F165L	probably benign	Het
Vstm4	A	G	14: 32,585,742 (GRCm39)	E103G	possibly damaging	Het
Zfp384	G	A	6: 125,007,893 (GRCm39)		silent	Het
Zfp870	A	T	17: 33,102,314 (GRCm39)	C339*	probably null	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
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
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

PCR Primer
(F):5'- TTTTGTACACCACCTACCGAAGAG -3'
(R):5'- TTCGGAAAGAGTGACACCCC -3'

Sequencing Primer
(F):5'- CCGAAGAGGTAAAGGAAACATAAAAC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'

Posted On

2016-04-15