Incidental Mutation 'R9444:Tcf12'
| ID |
713821 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72018040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 19
(D19N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184107]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
|
| AlphaFold |
Q61286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034755
AA Change: D19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: D19N
| 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: D19N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: D19N
| 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: D19N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138939
Gene: ENSMUSG00000032228
AA Change: D19N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183594
AA Change: D19N
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183992
AA Change: D19N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: D19N
| 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: ENSMUST00000184072
|
| SMART Domains |
Protein: ENSMUSP00000139284
Gene: ENSMUSG00000032228
| 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: ENSMUST00000184107
AA Change: D19N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184523
AA Change: D19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: D19N
| 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: D19N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: D19N
| 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: ENSMUST00000184867
AA Change: D19N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185117
AA Change: D19N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: D19N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,724 (GRCm39) |
D106G |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,384,020 (GRCm39) |
I2183T |
probably damaging |
Het |
| Adam17 |
A |
C |
12: 21,375,536 (GRCm39) |
L761R |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,185,140 (GRCm39) |
D217G |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,052,909 (GRCm39) |
Y434* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,855,180 (GRCm39) |
D416G |
possibly damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,376,661 (GRCm39) |
I11T |
probably damaging |
Het |
| C1qtnf6 |
C |
T |
15: 78,411,544 (GRCm39) |
C44Y |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 29,829,741 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,075,385 (GRCm39) |
D490G |
|
Het |
| Cilp2 |
T |
C |
8: 70,335,546 (GRCm39) |
D484G |
probably damaging |
Het |
| Col8a1 |
C |
A |
16: 57,448,455 (GRCm39) |
G352* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,208,250 (GRCm39) |
F1235S |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,607,127 (GRCm39) |
D2260E |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,318,347 (GRCm39) |
F430L |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,778,455 (GRCm39) |
I485K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,265 (GRCm39) |
V1414A |
probably benign |
Het |
| Galnt13 |
C |
A |
2: 55,002,928 (GRCm39) |
S578R |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,203,751 (GRCm39) |
M300K |
possibly damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,195 (GRCm39) |
A523T |
probably damaging |
Het |
| Gm19965 |
T |
C |
1: 116,732,393 (GRCm39) |
S79P |
|
Het |
| Hsf1 |
T |
C |
15: 76,384,769 (GRCm39) |
S487P |
probably damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Jag1 |
A |
C |
2: 136,936,397 (GRCm39) |
W366G |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,807 (GRCm39) |
S638P |
probably benign |
Het |
| Lipm |
A |
G |
19: 34,098,690 (GRCm39) |
D388G |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,013,730 (GRCm39) |
Y1925F |
|
Het |
| Lrrc37 |
G |
A |
11: 103,508,846 (GRCm39) |
Q1041* |
probably null |
Het |
| Mchr1 |
T |
C |
15: 81,121,919 (GRCm39) |
V223A |
possibly damaging |
Het |
| Mfrp |
T |
A |
9: 44,017,440 (GRCm39) |
I505N |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,714 (GRCm39) |
K87E |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,742,698 (GRCm39) |
F433L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,370,863 (GRCm39) |
R4H |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,110,805 (GRCm39) |
L299F |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,048,885 (GRCm39) |
Y457F |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,869 (GRCm39) |
K90E |
|
Het |
| Or4k48 |
T |
C |
2: 111,476,132 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5h18 |
T |
C |
16: 58,848,018 (GRCm39) |
D84G |
probably benign |
Het |
| Or5t18 |
T |
A |
2: 86,636,486 (GRCm39) |
I286F |
|
Het |
| Or8g32 |
A |
G |
9: 39,305,365 (GRCm39) |
N90D |
probably benign |
Het |
| Ovgp1 |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
3: 105,893,841 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,478,176 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,418,053 (GRCm39) |
E2903G |
probably benign |
Het |
| Pnp |
T |
C |
14: 51,188,052 (GRCm39) |
V113A |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,638,157 (GRCm39) |
D309G |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,487,362 (GRCm39) |
R501G |
|
Het |
| Rfx8 |
A |
T |
1: 39,709,476 (GRCm39) |
V517D |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,623 (GRCm39) |
Y1509C |
|
Het |
| Rtp4 |
T |
C |
16: 23,431,836 (GRCm39) |
Y123H |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,302,625 (GRCm39) |
I717V |
possibly damaging |
Het |
| Stap2 |
A |
T |
17: 56,307,907 (GRCm39) |
V150E |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,495,414 (GRCm39) |
N96K |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,030,442 (GRCm39) |
T93A |
probably damaging |
Het |
| Suclg2 |
T |
C |
6: 95,543,474 (GRCm39) |
D319G |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,581,503 (GRCm39) |
|
probably null |
Het |
| Tll1 |
T |
C |
8: 64,469,123 (GRCm39) |
Y1000C |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,033,612 (GRCm39) |
T985N |
probably benign |
Het |
| Trpc7 |
T |
A |
13: 56,923,968 (GRCm39) |
K794M |
possibly damaging |
Het |
| Unc5c |
G |
T |
3: 141,507,209 (GRCm39) |
|
probably null |
Het |
| Upf2 |
T |
A |
2: 6,023,755 (GRCm39) |
C702S |
unknown |
Het |
| Wdhd1 |
A |
G |
14: 47,488,324 (GRCm39) |
F728L |
possibly 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 |
|
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 |
|
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'- AGTTCAGGTGTCCAACTTGGG -3'
(R):5'- TCACTGTCCTTCGGGTATGC -3'
Sequencing Primer
(F):5'- AACTTGGGGGAGCTGGACTC -3'
(R):5'- CGAGCGCTGCCTCTCTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation