Incidental Mutation 'R8709:Tcf12'
| ID |
669445 |
| 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 |
068563-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8709 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71765787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 575
(V575A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
|
| AlphaFold |
Q61286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034755
AA Change: V551A
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: V551A
| 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 |
possibly damaging
Transcript: ENSMUST00000183404
AA Change: V575A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: V575A
| 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 |
possibly damaging
Transcript: ENSMUST00000183918
AA Change: V405A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000138978
Gene: ENSMUSG00000032228
AA Change: V405A
| 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
AA Change: V381A
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139334
Gene: ENSMUSG00000032228
AA Change: V381A
| 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
AA Change: V571A
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: V571A
| 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 |
possibly damaging
Transcript: ENSMUST00000184783
AA Change: V575A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: V575A
| 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 benign
Transcript: ENSMUST00000185117
AA Change: V551A
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: V551A
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (55/57) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3100002H09Rik |
A |
G |
4: 124,504,316 (GRCm39) |
S79P |
unknown |
Het |
| Aadacl4fm2 |
C |
G |
4: 144,281,863 (GRCm39) |
A310P |
probably damaging |
Het |
| Adamts20 |
T |
A |
15: 94,238,947 (GRCm39) |
D757V |
probably damaging |
Het |
| Adamts9 |
C |
T |
6: 92,784,144 (GRCm39) |
G1570D |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,077,642 (GRCm39) |
Y109C |
possibly damaging |
Het |
| Agl |
G |
A |
3: 116,566,121 (GRCm39) |
R335C |
|
Het |
| Ankfy1 |
C |
A |
11: 72,646,532 (GRCm39) |
T805K |
possibly damaging |
Het |
| Cast |
A |
T |
13: 74,892,780 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh17 |
G |
T |
4: 11,795,685 (GRCm39) |
E422* |
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,396,110 (GRCm39) |
L21H |
possibly damaging |
Het |
| Cwc22 |
T |
C |
2: 77,726,694 (GRCm39) |
E795G |
probably benign |
Het |
| Cwf19l2 |
C |
A |
9: 3,430,723 (GRCm39) |
Q352K |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,339,276 (GRCm39) |
V226A |
probably benign |
Het |
| Dnah12 |
A |
G |
14: 26,414,757 (GRCm39) |
I53V |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,674,476 (GRCm39) |
I434V |
probably benign |
Het |
| Dock8 |
C |
T |
19: 25,055,448 (GRCm39) |
Q137* |
probably null |
Het |
| Eif4b |
T |
G |
15: 102,002,116 (GRCm39) |
V515G |
unknown |
Het |
| Far2 |
T |
A |
6: 148,067,133 (GRCm39) |
N339K |
probably benign |
Het |
| Gpr22 |
T |
C |
12: 31,759,829 (GRCm39) |
T98A |
probably damaging |
Het |
| Hamp2 |
A |
G |
7: 30,621,974 (GRCm39) |
C72R |
probably damaging |
Het |
| Hmgn1 |
G |
A |
16: 95,928,540 (GRCm39) |
P16S |
possibly damaging |
Het |
| Hspd1 |
A |
G |
1: 55,120,922 (GRCm39) |
S256P |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,372 (GRCm39) |
C522R |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,796,713 (GRCm39) |
H1147R |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,439,887 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,140,681 (GRCm39) |
W654R |
probably damaging |
Het |
| Krtap22-2 |
T |
A |
16: 88,807,514 (GRCm39) |
Y28F |
unknown |
Het |
| Lcp2 |
T |
A |
11: 34,004,354 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,370,663 (GRCm39) |
L3225R |
possibly damaging |
Het |
| Myom3 |
A |
G |
4: 135,523,607 (GRCm39) |
E908G |
possibly damaging |
Het |
| Nup54 |
A |
G |
5: 92,570,267 (GRCm39) |
|
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,180,054 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or4a74 |
C |
T |
2: 89,440,366 (GRCm39) |
V27I |
probably benign |
Het |
| Or51af1 |
T |
C |
7: 103,141,519 (GRCm39) |
T189A |
probably benign |
Het |
| Or5ae1 |
T |
A |
7: 84,565,671 (GRCm39) |
I228N |
probably damaging |
Het |
| Pak4 |
A |
C |
7: 28,261,969 (GRCm39) |
D453E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,805,567 (GRCm39) |
T2120A |
|
Het |
| Pkhd1l1 |
T |
A |
15: 44,381,570 (GRCm39) |
S1099T |
probably benign |
Het |
| Pld2 |
C |
T |
11: 70,444,275 (GRCm39) |
R524W |
probably damaging |
Het |
| Polr1a |
T |
A |
6: 71,951,832 (GRCm39) |
D1466E |
probably benign |
Het |
| Pxdn |
C |
T |
12: 30,056,601 (GRCm39) |
L1271F |
probably damaging |
Het |
| Rp1l1 |
A |
C |
14: 64,269,295 (GRCm39) |
D1627A |
probably damaging |
Het |
| Sephs1 |
T |
C |
2: 4,889,402 (GRCm39) |
V60A |
probably benign |
Het |
| Sipa1 |
C |
T |
19: 5,710,980 (GRCm39) |
R10Q |
probably damaging |
Het |
| Sp4 |
T |
C |
12: 118,263,189 (GRCm39) |
T286A |
possibly damaging |
Het |
| Spag5 |
T |
A |
11: 78,192,738 (GRCm39) |
S23R |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,958,916 (GRCm39) |
N313K |
probably benign |
Het |
| Stag1 |
T |
A |
9: 100,772,975 (GRCm39) |
|
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,835,817 (GRCm39) |
H217Q |
probably benign |
Het |
| Stxbp2 |
T |
A |
8: 3,683,914 (GRCm39) |
F104I |
possibly damaging |
Het |
| Tg |
T |
A |
15: 66,553,786 (GRCm39) |
S400R |
probably benign |
Het |
| Tomm40 |
T |
C |
7: 19,444,703 (GRCm39) |
T200A |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,919,323 (GRCm39) |
E71G |
unknown |
Het |
| Zfp292 |
A |
T |
4: 34,805,982 (GRCm39) |
V2359E |
probably 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 |
|
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'- TGGCAGACGTACAACAACAGTC -3'
(R):5'- CTTGGTTGAAACGTGAATCTAGAC -3'
Sequencing Primer
(F):5'- GACGTACAACAACAGTCATTGTC -3'
(R):5'- GGTTGAAACGTGAATCTAGACTTATG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation