Incidental Mutation 'R6119:Tcf12'
ID |
485664 |
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 |
044429-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6119 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71775547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 421
(E421V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138832
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000185117]
[ENSMUST00000184867]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034755
AA Change: E401V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: E401V
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: E425V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: E425V
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 damaging
Transcript: ENSMUST00000183918
AA Change: E255V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: E255V
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 damaging
Transcript: ENSMUST00000183992
AA Change: E401V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: E401V
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: ENSMUST00000184448
AA Change: E231V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: E231V
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: E421V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: E421V
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: E425V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: E425V
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: E401V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: E401V
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: ENSMUST00000184867
|
Meta Mutation Damage Score |
0.5585 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
100% (53/53) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
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 |
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'- GTGATTTACCATCGAAGCTGATCG -3'
(R):5'- TCATAGTCTGAAAAGAGCTGCC -3'
Sequencing Primer
(F):5'- CGACTATTTGTAACAAGGCTGGATCC -3'
(R):5'- GAAGTTCAGGTAGTCGGT -3'
|
Posted On |
2017-08-16 |