Incidental Mutation 'R5789:Tcf12'
ID |
448216 |
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 |
043383-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5789 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71792518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139284
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000185117]
[ENSMUST00000184107]
[ENSMUST00000184867]
[ENSMUST00000184416]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034755
AA Change: Y211C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: Y211C
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 damaging
Transcript: ENSMUST00000183404
AA Change: Y211C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: Y211C
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 damaging
Transcript: ENSMUST00000183492
AA Change: Y92C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138939 Gene: ENSMUSG00000032228 AA Change: Y92C
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 |
noncoding transcript
Transcript: ENSMUST00000183784
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183918
AA Change: Y41C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: Y41C
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 |
unknown
Transcript: ENSMUST00000184029
AA Change: Y55C
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000183992
AA Change: Y211C
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: Y211C
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 damaging
Transcript: ENSMUST00000184072
AA Change: Y119C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139284 Gene: ENSMUSG00000032228 AA Change: Y119C
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 damaging
Transcript: ENSMUST00000184448
AA Change: Y41C
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: Y41C
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 damaging
Transcript: ENSMUST00000184523
AA Change: Y207C
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: Y207C
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 damaging
Transcript: ENSMUST00000184783
AA Change: Y211C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: Y211C
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 damaging
Transcript: ENSMUST00000185117
AA Change: Y211C
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: Y211C
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: ENSMUST00000184770
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184378
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184867
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184416
|
Meta Mutation Damage Score |
0.3388 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
97% (61/63) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,076,108 (GRCm39) |
F1200S |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,979,685 (GRCm39) |
D323V |
probably benign |
Het |
Aloxe3 |
T |
C |
11: 69,017,265 (GRCm39) |
Y13H |
probably damaging |
Het |
Aqp1 |
A |
G |
6: 55,313,746 (GRCm39) |
I91V |
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,226,112 (GRCm39) |
|
probably benign |
Het |
Carmil1 |
A |
G |
13: 24,305,831 (GRCm39) |
S318P |
probably damaging |
Het |
Cdan1 |
A |
G |
2: 120,560,016 (GRCm39) |
F383L |
probably benign |
Het |
Ciao3 |
T |
C |
17: 26,000,177 (GRCm39) |
C303R |
probably benign |
Het |
Col6a2 |
T |
A |
10: 76,440,223 (GRCm39) |
E606V |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,741,807 (GRCm39) |
T2371A |
possibly damaging |
Het |
Cops3 |
T |
C |
11: 59,721,106 (GRCm39) |
|
probably benign |
Het |
Coq7 |
G |
T |
7: 118,128,929 (GRCm39) |
H35Q |
possibly damaging |
Het |
Cp |
T |
A |
3: 20,011,454 (GRCm39) |
F3I |
probably benign |
Het |
D630003M21Rik |
C |
T |
2: 158,058,734 (GRCm39) |
E389K |
possibly damaging |
Het |
Dclre1c |
A |
T |
2: 3,438,993 (GRCm39) |
Q51L |
probably damaging |
Het |
Dhx37 |
A |
C |
5: 125,498,103 (GRCm39) |
I702S |
possibly damaging |
Het |
Dnah3 |
G |
T |
7: 119,542,822 (GRCm39) |
A3530D |
possibly damaging |
Het |
Dnajc13 |
T |
C |
9: 104,091,387 (GRCm39) |
R635G |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,354,217 (GRCm39) |
S3066G |
possibly damaging |
Het |
Doc2b |
T |
A |
11: 75,676,941 (GRCm39) |
H144L |
probably damaging |
Het |
Eif2b3 |
T |
A |
4: 116,885,692 (GRCm39) |
I78N |
probably damaging |
Het |
Enpp1 |
A |
T |
10: 24,523,137 (GRCm39) |
H767Q |
probably benign |
Het |
Fam180a |
C |
A |
6: 35,290,461 (GRCm39) |
*174L |
probably null |
Het |
Gabra1 |
A |
T |
11: 42,073,742 (GRCm39) |
|
probably benign |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm16551 |
T |
A |
9: 74,756,535 (GRCm39) |
|
noncoding transcript |
Het |
Ifi213 |
C |
A |
1: 173,396,360 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,411,410 (GRCm39) |
V358A |
possibly damaging |
Het |
Kmt2a |
T |
C |
9: 44,731,201 (GRCm39) |
|
probably benign |
Het |
Mrgprb13 |
A |
T |
7: 47,961,946 (GRCm39) |
|
noncoding transcript |
Het |
Mtrex |
A |
T |
13: 113,027,819 (GRCm39) |
N680K |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,955,439 (GRCm39) |
F371S |
probably damaging |
Het |
Nudcd1 |
G |
A |
15: 44,251,879 (GRCm39) |
Q428* |
probably null |
Het |
Pcdhgc5 |
C |
A |
18: 37,954,559 (GRCm39) |
P611Q |
probably damaging |
Het |
Plekhb1 |
A |
T |
7: 100,294,793 (GRCm39) |
Y193* |
probably null |
Het |
Prrt1 |
T |
C |
17: 34,850,931 (GRCm39) |
|
probably null |
Het |
Ptpn12 |
G |
A |
5: 21,194,013 (GRCm39) |
T753I |
possibly damaging |
Het |
Samsn1 |
T |
C |
16: 75,673,336 (GRCm39) |
D180G |
probably damaging |
Het |
Sh2d2a |
T |
A |
3: 87,756,820 (GRCm39) |
|
probably benign |
Het |
Slc12a2 |
T |
A |
18: 58,045,091 (GRCm39) |
|
probably null |
Het |
Socs3 |
T |
A |
11: 117,858,608 (GRCm39) |
Q150L |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,124,412 (GRCm39) |
V23A |
unknown |
Het |
Them5 |
A |
G |
3: 94,253,908 (GRCm39) |
E210G |
probably damaging |
Het |
Tmem135 |
A |
G |
7: 88,845,330 (GRCm39) |
F167S |
possibly damaging |
Het |
Tmem170 |
A |
G |
8: 112,593,032 (GRCm39) |
V134A |
possibly damaging |
Het |
Trbv20 |
A |
G |
6: 41,165,725 (GRCm39) |
Y50C |
probably damaging |
Het |
Uroc1 |
A |
G |
6: 90,321,179 (GRCm39) |
M252V |
probably damaging |
Het |
Wasf1 |
G |
A |
10: 40,802,570 (GRCm39) |
R75Q |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,300,065 (GRCm39) |
|
probably benign |
Het |
Yars1 |
C |
T |
4: 129,090,690 (GRCm39) |
T78M |
probably damaging |
Het |
Zdhhc16 |
T |
A |
19: 41,926,572 (GRCm39) |
H98Q |
probably damaging |
Het |
Zfp90 |
T |
C |
8: 107,150,605 (GRCm39) |
L106P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,637,853 (GRCm39) |
S82A |
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 |
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 |
|
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'- GAATGCCCCTAGAATATTATATGGC -3'
(R):5'- CGTTTTCTCAAAGATATGGTGGAG -3'
Sequencing Primer
(F):5'- ATGGCTAAATTTTAACTGGCTCC -3'
(R):5'- ATATGGTGGAGTTGAAAGTGTACC -3'
|
Posted On |
2016-12-15 |