Incidental Mutation 'R4693:Tcf12'
| ID |
355043 |
| 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 |
041944-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 71776249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000185117]
[ENSMUST00000184783]
[ENSMUST00000184867]
|
| AlphaFold |
Q61286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034755
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
| 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 |
noncoding transcript
Transcript: ENSMUST00000183784
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183918
|
| SMART Domains |
Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
| 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: ENSMUST00000185117
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
| 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 benign
Transcript: ENSMUST00000184783
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
C |
17: 85,004,125 (GRCm39) |
Y478H |
probably damaging |
Het |
| Adar |
A |
T |
3: 89,643,247 (GRCm39) |
H128L |
probably damaging |
Het |
| Angptl6 |
G |
T |
9: 20,786,598 (GRCm39) |
D349E |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,204,667 (GRCm39) |
T286A |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,186,019 (GRCm39) |
N510S |
probably damaging |
Het |
| Atoh7 |
G |
T |
10: 62,936,275 (GRCm39) |
R114L |
probably benign |
Het |
| Bank1 |
C |
G |
3: 135,953,437 (GRCm39) |
R106P |
probably damaging |
Het |
| Best1 |
C |
T |
19: 9,974,499 (GRCm39) |
G15D |
probably damaging |
Het |
| Best2 |
A |
T |
8: 85,737,832 (GRCm39) |
F188I |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,241 (GRCm39) |
Y344H |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,814,371 (GRCm39) |
L547P |
unknown |
Het |
| Cyp19a1 |
A |
T |
9: 54,080,617 (GRCm39) |
S247T |
possibly damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,686,925 (GRCm39) |
S126P |
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,536,750 (GRCm39) |
C180F |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,722,400 (GRCm39) |
D412G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,928 (GRCm39) |
S764C |
unknown |
Het |
| Dync1li1 |
C |
A |
9: 114,535,166 (GRCm39) |
D143E |
probably damaging |
Het |
| Esm1 |
A |
T |
13: 113,346,594 (GRCm39) |
D73V |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,513,110 (GRCm39) |
V431E |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,672,154 (GRCm39) |
R427H |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,375 (GRCm39) |
Y93C |
probably damaging |
Het |
| Gm6818 |
G |
A |
7: 38,100,126 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
A |
G |
11: 103,574,755 (GRCm39) |
S114P |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,459 (GRCm39) |
V444I |
probably benign |
Het |
| Gvin-ps3 |
T |
G |
7: 105,681,585 (GRCm39) |
|
noncoding transcript |
Het |
| Haus4 |
G |
T |
14: 54,787,256 (GRCm39) |
A67E |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,591,738 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,501,695 (GRCm39) |
Y911H |
probably benign |
Het |
| Lim2 |
T |
C |
7: 43,080,105 (GRCm39) |
Y31H |
probably damaging |
Het |
| Lims2 |
G |
A |
18: 32,077,552 (GRCm39) |
R101H |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,799,161 (GRCm39) |
M236K |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,510,686 (GRCm39) |
E427D |
unknown |
Het |
| Lrrk1 |
T |
C |
7: 65,912,235 (GRCm39) |
Y1775C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,407 (GRCm39) |
V197A |
possibly damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,329 (GRCm39) |
L268Q |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,084,726 (GRCm39) |
I216T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,234,528 (GRCm39) |
C1016Y |
probably benign |
Het |
| Mvp |
C |
A |
7: 126,597,500 (GRCm39) |
V168F |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,494 (GRCm39) |
T176A |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,437,532 (GRCm39) |
L81Q |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,966,503 (GRCm39) |
L453S |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,621 (GRCm39) |
E105V |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,412 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,659 (GRCm39) |
I108F |
probably damaging |
Het |
| Or5b125-ps1 |
C |
A |
19: 13,056,226 (GRCm39) |
|
noncoding transcript |
Het |
| Or5l14 |
A |
T |
2: 87,793,053 (GRCm39) |
F61Y |
probably benign |
Het |
| Pak4 |
A |
T |
7: 28,263,674 (GRCm39) |
M354K |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,173,383 (GRCm39) |
T2A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,960 (GRCm39) |
D1146G |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,042 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,650,671 (GRCm39) |
G467D |
possibly damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,560,692 (GRCm39) |
V25A |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,068,219 (GRCm39) |
E1772D |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,551,935 (GRCm39) |
H420R |
probably damaging |
Het |
| Sbds |
G |
A |
5: 130,279,816 (GRCm39) |
R63W |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,495,975 (GRCm39) |
T19A |
possibly damaging |
Het |
| Scn8a |
A |
T |
15: 100,913,572 (GRCm39) |
D988V |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,761,680 (GRCm39) |
Q34* |
probably null |
Het |
| Slc22a6 |
T |
A |
19: 8,601,016 (GRCm39) |
I403N |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,781,042 (GRCm39) |
Y574C |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,889,897 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,137,716 (GRCm39) |
V1022E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,815,635 (GRCm39) |
E292K |
possibly damaging |
Het |
| Tbx5 |
A |
T |
5: 119,979,964 (GRCm39) |
H170L |
probably damaging |
Het |
| Themis |
G |
A |
10: 28,658,647 (GRCm39) |
R558H |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,170 (GRCm39) |
E849G |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,470,534 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,953,956 (GRCm39) |
C707S |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,803,270 (GRCm39) |
N201K |
probably benign |
Het |
| Zfp148 |
C |
T |
16: 33,288,505 (GRCm39) |
R207C |
probably damaging |
Het |
| Zfp648 |
G |
T |
1: 154,080,152 (GRCm39) |
A104S |
probably benign |
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 |
|
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 |
PCR Primer
(F):5'- TTGAAGGTAAGACATCCACTACCC -3'
(R):5'- GCACATCAGCTATTTCCTCGAC -3'
Sequencing Primer
(F):5'- ACGGGTCACACATGCTTTATAC -3'
(R):5'- AGCTATTTCCTCGACTCTGTTGGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation