Incidental Mutation 'R8161:Tcf12'
| ID |
633521 |
| 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 |
067587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8161 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71922933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 70
(Y70C)
|
| 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: Y70C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: Y70C
| 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: Y70C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: Y70C
| 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: Y70C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138939
Gene: ENSMUSG00000032228
AA Change: Y70C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183594
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183992
AA Change: Y70C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: Y70C
| 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: Y70C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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 |
probably damaging
Transcript: ENSMUST00000184783
AA Change: Y70C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: Y70C
| 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 |
probably damaging
Transcript: ENSMUST00000185117
AA Change: Y70C
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: Y70C
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.8%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9630041A04Rik |
T |
C |
9: 101,815,968 (GRCm39) |
L51P |
probably damaging |
Het |
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,825,778 (GRCm39) |
N371S |
|
Het |
| Arhgef5 |
T |
A |
6: 43,260,885 (GRCm39) |
C1437S |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,690,058 (GRCm39) |
L558Q |
probably damaging |
Het |
| Bsn |
T |
C |
9: 108,016,729 (GRCm39) |
K94R |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,519,935 (GRCm39) |
V435D |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,241,711 (GRCm39) |
N1474S |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,855,038 (GRCm39) |
D2089G |
probably damaging |
Het |
| Col11a2 |
T |
A |
17: 34,270,264 (GRCm39) |
M492K |
unknown |
Het |
| Col16a1 |
A |
T |
4: 129,954,262 (GRCm39) |
T502S |
unknown |
Het |
| Csl |
A |
T |
10: 99,594,182 (GRCm39) |
N294K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,350,850 (GRCm39) |
M2624K |
possibly damaging |
Het |
| Dync1li1 |
C |
A |
9: 114,535,251 (GRCm39) |
H172N |
probably damaging |
Het |
| Eef1a1 |
C |
T |
9: 78,387,672 (GRCm39) |
V59I |
probably benign |
Het |
| Ephb1 |
T |
C |
9: 102,072,012 (GRCm39) |
K256E |
probably damaging |
Het |
| Erlin2 |
C |
A |
8: 27,518,970 (GRCm39) |
T78N |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,044,793 (GRCm39) |
L614P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,866,555 (GRCm39) |
D1555E |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,082,566 (GRCm39) |
D230G |
probably damaging |
Het |
| Gen1 |
A |
T |
12: 11,291,465 (GRCm39) |
S840T |
probably benign |
Het |
| Glyctk |
G |
A |
9: 106,034,892 (GRCm39) |
T58I |
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,138 (GRCm39) |
A438T |
unknown |
Het |
| Gm14305 |
A |
G |
2: 176,413,298 (GRCm39) |
T397A |
probably benign |
Het |
| Hnrnpu |
G |
T |
1: 178,165,067 (GRCm39) |
R24S |
possibly damaging |
Het |
| Iffo2 |
A |
G |
4: 139,302,265 (GRCm39) |
N3D |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,308,660 (GRCm39) |
M125I |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kcnj16 |
T |
A |
11: 110,915,341 (GRCm39) |
M1K |
probably null |
Het |
| Kcns3 |
G |
A |
12: 11,169,764 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,579,562 (GRCm39) |
V578A |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,839,137 (GRCm39) |
K444R |
probably damaging |
Het |
| Mtg2 |
T |
C |
2: 179,727,368 (GRCm39) |
V340A |
probably benign |
Het |
| Mtr |
A |
C |
13: 12,236,372 (GRCm39) |
L618R |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,124,991 (GRCm39) |
D23E |
unknown |
Het |
| Nos1ap |
A |
G |
1: 170,218,328 (GRCm39) |
V27A |
probably damaging |
Het |
| Npc1 |
A |
T |
18: 12,328,129 (GRCm39) |
I1060K |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,193 (GRCm39) |
L23* |
probably null |
Het |
| Or10ag52 |
T |
C |
2: 87,044,148 (GRCm39) |
I304T |
probably damaging |
Het |
| Or1p1c |
A |
T |
11: 74,160,544 (GRCm39) |
M110L |
probably benign |
Het |
| Or6c6c |
A |
T |
10: 129,540,753 (GRCm39) |
K2I |
possibly damaging |
Het |
| Or8b3 |
C |
A |
9: 38,314,803 (GRCm39) |
T211K |
probably damaging |
Het |
| Or9s13 |
G |
A |
1: 92,548,078 (GRCm39) |
R150H |
probably benign |
Het |
| Pcdhgc5 |
A |
T |
18: 37,954,615 (GRCm39) |
T630S |
probably damaging |
Het |
| Pgm2 |
C |
A |
5: 64,269,503 (GRCm39) |
T530K |
probably damaging |
Het |
| Phf20l1 |
A |
T |
15: 66,475,922 (GRCm39) |
N185I |
probably damaging |
Het |
| Pkp2 |
A |
G |
16: 16,031,313 (GRCm39) |
D26G |
probably damaging |
Het |
| Rangap1 |
C |
T |
15: 81,594,696 (GRCm39) |
E378K |
probably benign |
Het |
| Rapgef1 |
A |
C |
2: 29,569,210 (GRCm39) |
I43L |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,094,892 (GRCm39) |
T111A |
|
Het |
| Rptn |
GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA |
GCAAGACCAGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTTCTCACCAGGGTCA |
3: 93,304,000 (GRCm39) |
|
probably benign |
Het |
| Spata16 |
A |
T |
3: 26,894,811 (GRCm39) |
M287L |
probably benign |
Het |
| Speer4a2 |
T |
C |
5: 26,289,690 (GRCm39) |
S246G |
possibly damaging |
Het |
| Stau2 |
A |
G |
1: 16,416,049 (GRCm39) |
M470T |
probably benign |
Het |
| Tsc22d1 |
C |
T |
14: 76,654,460 (GRCm39) |
T313M |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,239 (GRCm39) |
M181K |
possibly damaging |
Het |
| Zbtb48 |
A |
T |
4: 152,106,567 (GRCm39) |
C345S |
probably damaging |
Het |
| Zfp628 |
G |
A |
7: 4,921,958 (GRCm39) |
R60Q |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,713 (GRCm39) |
S293P |
possibly damaging |
Het |
| Zkscan17 |
G |
A |
11: 59,393,770 (GRCm39) |
P183S |
probably benign |
Het |
| Zscan12 |
G |
T |
13: 21,547,897 (GRCm39) |
K26N |
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 |
|
|
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 |
|
|
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'- TGTAGGCAAAGCAGATCTGG -3'
(R):5'- GCCAGTTTCACAATGATTCTCATAC -3'
Sequencing Primer
(F):5'- GCAAAGCAGATCTGGATAATACC -3'
(R):5'- CTCATACCATCATGTGAACTTCG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation