Incidental Mutation 'R4885:Tcf12'
ID |
375643 |
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 |
042851-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4885 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71766122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 504
(G504S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139084
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000185117]
[ENSMUST00000184783]
[ENSMUST00000184867]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034755
AA Change: G504S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: G504S
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
AA Change: G528S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: G528S
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: ENSMUST00000183918
AA Change: G358S
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: G358S
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
AA Change: G504S
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: G504S
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: ENSMUST00000184448
AA Change: G334S
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: G334S
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
AA Change: G524S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: G524S
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 null
Transcript: ENSMUST00000185117
AA Change: G504S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: G504S
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 null
Transcript: ENSMUST00000184783
AA Change: G528S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: G528S
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 |
noncoding transcript
Transcript: ENSMUST00000195551
|
Meta Mutation Damage Score |
0.1629 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
99% (77/78) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,370,425 (GRCm39) |
T317A |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,444,011 (GRCm39) |
M1038L |
probably benign |
Het |
Anapc10 |
C |
T |
8: 80,455,779 (GRCm39) |
T76I |
probably benign |
Het |
Atosa |
T |
C |
9: 74,913,649 (GRCm39) |
L94P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,965,474 (GRCm39) |
S1177N |
probably benign |
Het |
Bsn |
A |
T |
9: 107,984,726 (GRCm39) |
Y337* |
probably null |
Het |
Ccl20 |
T |
A |
1: 83,095,580 (GRCm39) |
V48E |
possibly damaging |
Het |
Ccnl1 |
C |
T |
3: 65,864,320 (GRCm39) |
D122N |
probably damaging |
Het |
Chat |
C |
G |
14: 32,176,567 (GRCm39) |
G69A |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,841,039 (GRCm39) |
I418F |
possibly damaging |
Het |
Dmxl1 |
G |
C |
18: 50,011,862 (GRCm39) |
A1340P |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,937,935 (GRCm39) |
S793N |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,958,290 (GRCm39) |
L632Q |
probably damaging |
Het |
Fabp9 |
T |
C |
3: 10,259,738 (GRCm39) |
K92E |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,432,559 (GRCm39) |
H530R |
probably benign |
Het |
Fancm |
C |
T |
12: 65,149,417 (GRCm39) |
Q728* |
probably null |
Het |
Fgd3 |
G |
A |
13: 49,417,465 (GRCm39) |
T666M |
possibly damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,301 (GRCm39) |
M251V |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,438 (GRCm39) |
M4724L |
probably benign |
Het |
Gemin6 |
G |
A |
17: 80,535,327 (GRCm39) |
E96K |
probably damaging |
Het |
Gfi1 |
C |
A |
5: 107,871,152 (GRCm39) |
V80F |
probably damaging |
Het |
H3c13 |
G |
T |
3: 96,176,277 (GRCm39) |
V90F |
possibly damaging |
Het |
Hectd1 |
A |
G |
12: 51,847,505 (GRCm39) |
V442A |
probably damaging |
Het |
Ift80 |
A |
G |
3: 68,857,829 (GRCm39) |
I272T |
probably damaging |
Het |
Impact |
C |
G |
18: 13,119,430 (GRCm39) |
A214G |
probably damaging |
Het |
Insl6 |
C |
T |
19: 29,302,556 (GRCm39) |
E54K |
probably benign |
Het |
Irak3 |
T |
A |
10: 120,018,586 (GRCm39) |
D54V |
probably damaging |
Het |
Itk |
C |
T |
11: 46,227,171 (GRCm39) |
|
probably null |
Het |
Ivl |
A |
T |
3: 92,479,718 (GRCm39) |
C116S |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,570,260 (GRCm39) |
A361V |
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,548 (GRCm39) |
P581L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,358,905 (GRCm39) |
E656G |
probably benign |
Het |
Macrod2 |
A |
G |
2: 140,261,985 (GRCm39) |
T89A |
possibly damaging |
Het |
Mettl13 |
T |
C |
1: 162,364,837 (GRCm39) |
D514G |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,590,711 (GRCm39) |
I151F |
possibly damaging |
Het |
Mical3 |
G |
A |
6: 120,912,214 (GRCm39) |
P1882S |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,383,382 (GRCm39) |
E394G |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,488,892 (GRCm39) |
S688T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,176,058 (GRCm39) |
Y1467C |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,118,238 (GRCm39) |
R214Q |
probably damaging |
Het |
Nkx6-3 |
C |
A |
8: 23,643,914 (GRCm39) |
P105Q |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,710 (GRCm39) |
T264A |
possibly damaging |
Het |
Nnat |
G |
A |
2: 157,403,678 (GRCm39) |
C122Y |
probably damaging |
Het |
Notch3 |
G |
A |
17: 32,360,351 (GRCm39) |
R1527C |
probably damaging |
Het |
Or2y16 |
C |
T |
11: 49,335,449 (GRCm39) |
T257I |
probably damaging |
Het |
Or5an1c |
T |
G |
19: 12,218,082 (GRCm39) |
|
probably null |
Het |
Or5h18 |
A |
G |
16: 58,847,518 (GRCm39) |
Y251H |
probably damaging |
Het |
Pds5b |
C |
T |
5: 150,639,927 (GRCm39) |
T14I |
probably benign |
Het |
Phf19 |
A |
T |
2: 34,789,718 (GRCm39) |
I334N |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,365 (GRCm39) |
D118G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,140,712 (GRCm39) |
E3886V |
possibly damaging |
Het |
Pkp1 |
A |
G |
1: 135,846,690 (GRCm39) |
S21P |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,219 (GRCm39) |
L374F |
possibly damaging |
Het |
Rack1 |
C |
A |
11: 48,696,463 (GRCm39) |
A290E |
probably damaging |
Het |
Rbm15 |
A |
G |
3: 107,239,570 (GRCm39) |
V276A |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,076,335 (GRCm39) |
L183* |
probably null |
Het |
Sc5d |
T |
C |
9: 42,166,922 (GRCm39) |
I206V |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,826,737 (GRCm39) |
I233T |
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,257,132 (GRCm39) |
Y529H |
probably damaging |
Het |
Slc1a4 |
A |
C |
11: 20,254,384 (GRCm39) |
V494G |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,230 (GRCm39) |
T17A |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,932,744 (GRCm39) |
S73P |
probably damaging |
Het |
Stk32b |
T |
C |
5: 37,624,141 (GRCm39) |
Y202C |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 40,468,334 (GRCm39) |
S55G |
probably damaging |
Het |
Ttc3 |
G |
C |
16: 94,227,690 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
C |
16: 94,220,324 (GRCm39) |
I568T |
probably damaging |
Het |
Ttc41 |
T |
G |
10: 86,594,966 (GRCm39) |
N913K |
possibly damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,231 (GRCm39) |
V236M |
probably damaging |
Het |
Wscd1 |
C |
T |
11: 71,650,972 (GRCm39) |
R100C |
probably damaging |
Het |
Zc3h18 |
C |
T |
8: 123,128,445 (GRCm39) |
|
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 |
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'- TTGTACACCACCTACCGAAGAG -3'
(R):5'- ATTCGGAAAGAGTGACACCC -3'
Sequencing Primer
(F):5'- CCGAAGAGGTAAAGGAAACATAAAAC -3'
(R):5'- CCTGTAATCCTGGCTATTCAGAAGAC -3'
|
Posted On |
2016-03-17 |