Incidental Mutation 'R1520:Tcf12'
ID |
167382 |
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 |
039564-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1520 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to A
at 71790388 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184416]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
[ENSMUST00000184107]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034755
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228
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 null
Transcript: ENSMUST00000183404
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228
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: ENSMUST00000183492
|
SMART Domains |
Protein: ENSMUSP00000138939 Gene: ENSMUSG00000032228
Domain | Start | End | E-Value | Type |
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183594
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183647
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183784
|
Predicted Effect |
probably null
Transcript: ENSMUST00000183918
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228
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 null
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 null
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 benign
Transcript: ENSMUST00000184378
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184416
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184448
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228
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 null
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 null
Transcript: ENSMUST00000184783
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228
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 null
Transcript: ENSMUST00000185117
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228
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: ENSMUST00000184029
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184107
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,844,664 (GRCm39) |
N1491S |
possibly damaging |
Het |
Abcb1b |
G |
A |
5: 8,864,768 (GRCm39) |
A249T |
probably damaging |
Het |
Acacb |
A |
G |
5: 114,340,001 (GRCm39) |
D804G |
possibly damaging |
Het |
Agpat3 |
A |
T |
10: 78,123,857 (GRCm39) |
M1K |
probably null |
Het |
Akr1c12 |
A |
C |
13: 4,326,298 (GRCm39) |
I61R |
probably damaging |
Het |
Antxr2 |
G |
A |
5: 98,108,551 (GRCm39) |
A320V |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,908,231 (GRCm39) |
Y410* |
probably null |
Het |
Arhgef1 |
A |
G |
7: 24,619,129 (GRCm39) |
R454G |
probably damaging |
Het |
C1ql4 |
T |
C |
15: 98,985,548 (GRCm39) |
H21R |
probably benign |
Het |
Celsr3 |
T |
C |
9: 108,725,857 (GRCm39) |
S3029P |
probably damaging |
Het |
Chaf1a |
T |
C |
17: 56,354,302 (GRCm39) |
C191R |
unknown |
Het |
Corin |
A |
C |
5: 72,488,238 (GRCm39) |
C627G |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,799,263 (GRCm39) |
Y308C |
probably damaging |
Het |
Cyp4a32 |
A |
G |
4: 115,471,849 (GRCm39) |
N420S |
probably damaging |
Het |
Eftud2 |
A |
G |
11: 102,730,266 (GRCm39) |
S889P |
probably damaging |
Het |
Eng |
A |
G |
2: 32,562,953 (GRCm39) |
H267R |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,839,644 (GRCm39) |
|
probably benign |
Het |
Fmo9 |
G |
T |
1: 166,495,024 (GRCm39) |
H292Q |
probably benign |
Het |
Frmpd4 |
T |
C |
X: 166,275,949 (GRCm39) |
S373G |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,058 (GRCm39) |
I2459K |
possibly damaging |
Het |
Gbp5 |
A |
T |
3: 142,213,775 (GRCm39) |
H523L |
probably damaging |
Het |
Gpr65 |
T |
C |
12: 98,241,434 (GRCm39) |
V29A |
probably benign |
Het |
Igkv7-33 |
T |
A |
6: 70,036,132 (GRCm39) |
|
probably benign |
Het |
Iqcc |
G |
A |
4: 129,510,762 (GRCm39) |
T251I |
possibly damaging |
Het |
Jund |
A |
G |
8: 71,151,923 (GRCm39) |
T73A |
probably benign |
Het |
Kif14 |
A |
G |
1: 136,431,062 (GRCm39) |
D1153G |
probably benign |
Het |
Mcm8 |
T |
C |
2: 132,681,375 (GRCm39) |
V617A |
probably benign |
Het |
Mdga1 |
A |
G |
17: 30,065,493 (GRCm39) |
F646L |
probably benign |
Het |
Morc3 |
A |
G |
16: 93,641,129 (GRCm39) |
K54E |
probably damaging |
Het |
Mutyh |
T |
C |
4: 116,674,749 (GRCm39) |
L357P |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,896,821 (GRCm39) |
|
probably null |
Het |
Or4k41 |
G |
A |
2: 111,279,619 (GRCm39) |
V45I |
probably benign |
Het |
Osbpl3 |
T |
A |
6: 50,323,411 (GRCm39) |
D224V |
possibly damaging |
Het |
Parp4 |
T |
C |
14: 56,835,863 (GRCm39) |
I469T |
probably damaging |
Het |
Pkd1l2 |
A |
G |
8: 117,772,898 (GRCm39) |
V1043A |
probably benign |
Het |
Plod3 |
A |
G |
5: 137,020,165 (GRCm39) |
N460S |
probably damaging |
Het |
Preb |
A |
G |
5: 31,115,868 (GRCm39) |
F192L |
probably benign |
Het |
Prkra |
T |
C |
2: 76,469,622 (GRCm39) |
T146A |
possibly damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rag2 |
T |
C |
2: 101,460,476 (GRCm39) |
I262T |
probably damaging |
Het |
Rgr |
A |
G |
14: 36,766,672 (GRCm39) |
W125R |
probably damaging |
Het |
Rit1 |
T |
A |
3: 88,636,620 (GRCm39) |
F211I |
probably benign |
Het |
Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
Serinc2 |
C |
T |
4: 130,154,543 (GRCm39) |
V234I |
probably benign |
Het |
Srp54b |
T |
C |
12: 55,304,354 (GRCm39) |
M434T |
possibly damaging |
Het |
Srrt |
C |
A |
5: 137,297,028 (GRCm39) |
R69L |
probably damaging |
Het |
Sv2b |
A |
G |
7: 74,807,077 (GRCm39) |
L191P |
probably damaging |
Het |
Tmem273 |
A |
T |
14: 32,527,083 (GRCm39) |
|
probably benign |
Het |
Tmem87b |
T |
C |
2: 128,681,176 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,647,392 (GRCm39) |
E11031G |
possibly damaging |
Het |
Uaca |
A |
T |
9: 60,778,663 (GRCm39) |
T1017S |
probably benign |
Het |
Urb1 |
C |
A |
16: 90,571,633 (GRCm39) |
V1059L |
probably benign |
Het |
V1rd19 |
G |
A |
7: 23,702,623 (GRCm39) |
A30T |
probably damaging |
Het |
Vldlr |
C |
T |
19: 27,217,943 (GRCm39) |
L91F |
probably damaging |
Het |
Vldlr |
G |
T |
19: 27,224,466 (GRCm39) |
A770S |
possibly damaging |
Het |
Vmn2r80 |
A |
G |
10: 79,030,594 (GRCm39) |
T807A |
probably damaging |
Het |
Wwox |
C |
T |
8: 115,438,873 (GRCm39) |
P313L |
probably benign |
Het |
Zap70 |
T |
C |
1: 36,810,036 (GRCm39) |
S49P |
probably damaging |
Het |
Zfp317 |
A |
G |
9: 19,559,144 (GRCm39) |
I453V |
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 |
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 |
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'- TGGTTCCTGGATGGTTCAAATAGGC -3'
(R):5'- CGATTGAGTGAGCAACATGCAGC -3'
Sequencing Primer
(F):5'- GAATCGGGAACACTCTTATGTGC -3'
(R):5'- gagcagtctccccagcc -3'
|
Posted On |
2014-04-13 |