Incidental Mutation 'R6299:Tcf12'
ID |
508980 |
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 |
044465-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6299 (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 T
at 71766211 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 474
(V474D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139084
(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: V474D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: V474D
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: V498D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: V498D
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: V328D
PolyPhen 2
Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: V328D
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: V474D
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: V474D
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 |
possibly damaging
Transcript: ENSMUST00000184448
AA Change: V304D
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: V304D
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 |
possibly damaging
Transcript: ENSMUST00000184523
AA Change: V494D
PolyPhen 2
Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: V494D
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 |
noncoding transcript
Transcript: ENSMUST00000184770
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000184783
AA Change: V498D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: V498D
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: V474D
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: V474D
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 |
probably benign
Transcript: ENSMUST00000184867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195551
|
Meta Mutation Damage Score |
0.1215 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
Validation Efficiency |
100% (61/61) |
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 |
Bms1 |
G |
A |
6: 118,395,476 (GRCm39) |
R24W |
probably damaging |
Het |
C130050O18Rik |
A |
T |
5: 139,400,126 (GRCm39) |
S60C |
probably damaging |
Het |
Cabcoco1 |
A |
G |
10: 68,272,720 (GRCm39) |
Y222H |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,485,335 (GRCm39) |
V559A |
probably benign |
Het |
Cgrrf1 |
T |
A |
14: 47,077,647 (GRCm39) |
N46K |
probably damaging |
Het |
Clca3a1 |
T |
C |
3: 144,464,275 (GRCm39) |
D114G |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,138,034 (GRCm39) |
L279F |
probably damaging |
Het |
Cr2 |
T |
C |
1: 194,850,954 (GRCm39) |
T151A |
probably damaging |
Het |
Creb3l3 |
C |
T |
10: 80,924,447 (GRCm39) |
E236K |
probably damaging |
Het |
Dcstamp |
T |
A |
15: 39,618,599 (GRCm39) |
V336D |
probably damaging |
Het |
Dop1a |
T |
G |
9: 86,386,265 (GRCm39) |
F379V |
probably damaging |
Het |
Esf1 |
T |
C |
2: 139,965,554 (GRCm39) |
K714R |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,388,513 (GRCm39) |
M1L |
possibly damaging |
Het |
Extl3 |
T |
C |
14: 65,314,121 (GRCm39) |
R354G |
probably benign |
Het |
Fastkd3 |
T |
C |
13: 68,735,855 (GRCm39) |
L535P |
probably damaging |
Het |
Gab2 |
A |
G |
7: 96,731,066 (GRCm39) |
T12A |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Golga4 |
T |
A |
9: 118,386,438 (GRCm39) |
S1187T |
probably benign |
Het |
Haus3 |
A |
G |
5: 34,325,140 (GRCm39) |
V173A |
probably benign |
Het |
Herc2 |
T |
A |
7: 55,784,803 (GRCm39) |
Y1416N |
possibly damaging |
Het |
Hspg2 |
A |
G |
4: 137,272,016 (GRCm39) |
Y2566C |
probably damaging |
Het |
Inpp5f |
A |
T |
7: 128,237,884 (GRCm39) |
T34S |
possibly damaging |
Het |
Iqck |
G |
A |
7: 118,475,485 (GRCm39) |
G70S |
unknown |
Het |
Jade1 |
T |
C |
3: 41,568,160 (GRCm39) |
F743L |
probably damaging |
Het |
Kif5a |
T |
C |
10: 127,069,690 (GRCm39) |
K845R |
probably damaging |
Het |
Klhl30 |
A |
G |
1: 91,285,636 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
C |
9: 64,121,772 (GRCm39) |
D67G |
possibly damaging |
Het |
Mcm9 |
A |
C |
10: 53,413,777 (GRCm39) |
C434W |
probably damaging |
Het |
Muc4 |
T |
G |
16: 32,570,853 (GRCm39) |
S638A |
possibly damaging |
Het |
Nectin3 |
A |
G |
16: 46,284,345 (GRCm39) |
V113A |
probably damaging |
Het |
Nfya |
T |
C |
17: 48,699,938 (GRCm39) |
|
probably benign |
Het |
Nup155 |
G |
T |
15: 8,157,922 (GRCm39) |
A460S |
possibly damaging |
Het |
Nup210 |
T |
C |
6: 91,051,270 (GRCm39) |
E371G |
possibly damaging |
Het |
Olfm3 |
T |
C |
3: 114,914,632 (GRCm39) |
S228P |
probably damaging |
Het |
Or52n20 |
C |
A |
7: 104,320,075 (GRCm39) |
D55E |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,569,073 (GRCm39) |
I205N |
possibly damaging |
Het |
Plin1 |
A |
C |
7: 79,371,224 (GRCm39) |
V500G |
probably benign |
Het |
Ppfia1 |
A |
C |
7: 144,064,049 (GRCm39) |
M513R |
probably benign |
Het |
Ppp1cb |
T |
A |
5: 32,640,798 (GRCm39) |
C27* |
probably null |
Het |
Prss22 |
T |
A |
17: 24,215,408 (GRCm39) |
I123F |
probably damaging |
Het |
Rbm24 |
G |
T |
13: 46,572,549 (GRCm39) |
V15L |
probably damaging |
Het |
Reln |
T |
C |
5: 22,491,942 (GRCm39) |
T97A |
possibly damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,180,203 (GRCm39) |
T1065A |
possibly damaging |
Het |
Sipa1l3 |
A |
C |
7: 29,065,974 (GRCm39) |
|
probably null |
Het |
Snrnp200 |
T |
A |
2: 127,064,081 (GRCm39) |
Y689* |
probably null |
Het |
Srcap |
T |
C |
7: 127,129,626 (GRCm39) |
|
probably benign |
Het |
Sv2a |
T |
C |
3: 96,095,565 (GRCm39) |
|
probably null |
Het |
Tpcn2 |
A |
T |
7: 144,815,980 (GRCm39) |
S403T |
probably damaging |
Het |
Trim65 |
C |
A |
11: 116,017,377 (GRCm39) |
A362S |
probably benign |
Het |
Trmt1 |
T |
A |
8: 85,423,919 (GRCm39) |
C36* |
probably null |
Het |
Trpm8 |
T |
A |
1: 88,282,201 (GRCm39) |
L699Q |
probably damaging |
Het |
Ube2m |
A |
C |
7: 12,769,797 (GRCm39) |
I116R |
probably damaging |
Het |
Ulk1 |
T |
C |
5: 110,938,963 (GRCm39) |
K492E |
possibly damaging |
Het |
Usp40 |
T |
A |
1: 87,925,649 (GRCm39) |
K193N |
probably damaging |
Het |
Vmn1r3 |
A |
G |
4: 3,185,098 (GRCm39) |
S70P |
possibly damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,024,074 (GRCm39) |
K836* |
probably null |
Het |
Vmn2r75 |
T |
A |
7: 85,814,482 (GRCm39) |
H337L |
probably benign |
Het |
Wars1 |
G |
A |
12: 108,827,309 (GRCm39) |
T437M |
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,520,825 (GRCm39) |
T451A |
probably benign |
Het |
Zfp788 |
T |
G |
7: 41,297,965 (GRCm39) |
H180Q |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,717,782 (GRCm39) |
E59G |
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 |
|
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'- CTTCTGGAGGCAAGGGAAAGTC -3'
(R):5'- TGTTCACCAAAATTCGGAAAGAGTG -3'
Sequencing Primer
(F):5'- GGGAAAGTCTGTTATGTAGACCC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'
|
Posted On |
2018-04-02 |