Incidental Mutation 'R7734:Tcf12'
ID |
596062 |
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 |
045790-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7734 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71829943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 173
(V173L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184107]
[ENSMUST00000184416]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034755
AA Change: V173L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: V173L
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: ENSMUST00000183404
AA Change: V173L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: V173L
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 |
probably benign
Transcript: ENSMUST00000183992
AA Change: V173L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: V173L
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184072
AA Change: V81L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139284 Gene: ENSMUSG00000032228 AA Change: V81L
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: ENSMUST00000184107
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184416
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184523
AA Change: V169L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: V169L
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 benign
Transcript: ENSMUST00000184783
AA Change: V173L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: V173L
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: V173L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: V173L
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 |
|
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa2 |
T |
C |
9: 69,398,764 (GRCm39) |
Y333H |
probably benign |
Het |
Arid1a |
A |
T |
4: 133,408,679 (GRCm39) |
F1558I |
unknown |
Het |
Aste1 |
A |
G |
9: 105,274,678 (GRCm39) |
D306G |
probably damaging |
Het |
Atp2a2 |
A |
G |
5: 122,596,590 (GRCm39) |
V843A |
possibly damaging |
Het |
Atrip |
T |
A |
9: 108,894,574 (GRCm39) |
H451L |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,295,664 (GRCm39) |
D200G |
probably damaging |
Het |
Ceacam19 |
A |
C |
7: 19,620,520 (GRCm39) |
M37R |
probably benign |
Het |
Cemip |
G |
A |
7: 83,606,872 (GRCm39) |
R782* |
probably null |
Het |
Cpe |
A |
T |
8: 65,070,654 (GRCm39) |
I197N |
probably benign |
Het |
Csmd2 |
C |
A |
4: 128,445,850 (GRCm39) |
P3307T |
|
Het |
Cyp4a12b |
C |
A |
4: 115,268,937 (GRCm39) |
Q20K |
possibly damaging |
Het |
Dcaf1 |
T |
C |
9: 106,715,878 (GRCm39) |
Y332H |
probably damaging |
Het |
Dclk3 |
A |
G |
9: 111,298,163 (GRCm39) |
H569R |
probably damaging |
Het |
Dcp1b |
A |
G |
6: 119,192,244 (GRCm39) |
S387G |
probably benign |
Het |
Ddx24 |
A |
G |
12: 103,383,819 (GRCm39) |
M590T |
possibly damaging |
Het |
Dixdc1 |
T |
G |
9: 50,613,268 (GRCm39) |
Q229P |
probably damaging |
Het |
Dnase1l3 |
T |
C |
14: 7,977,144 (GRCm38) |
R181G |
probably benign |
Het |
Dzip1l |
A |
T |
9: 99,549,735 (GRCm39) |
D735V |
probably damaging |
Het |
Edem3 |
T |
C |
1: 151,694,336 (GRCm39) |
S890P |
probably benign |
Het |
Fuom |
A |
G |
7: 139,679,455 (GRCm39) |
L155P |
unknown |
Het |
Gm6408 |
C |
A |
5: 146,421,160 (GRCm39) |
S263* |
probably null |
Het |
Helz |
C |
G |
11: 107,576,248 (GRCm39) |
S1814R |
unknown |
Het |
Hrc |
T |
C |
7: 44,986,100 (GRCm39) |
L417P |
probably benign |
Het |
Igdcc4 |
A |
C |
9: 65,039,035 (GRCm39) |
H894P |
probably damaging |
Het |
Lgr6 |
C |
A |
1: 134,930,981 (GRCm39) |
V296L |
probably damaging |
Het |
Map3k4 |
T |
A |
17: 12,482,998 (GRCm39) |
Y573F |
probably damaging |
Het |
Mest |
T |
C |
6: 30,746,299 (GRCm39) |
Y296H |
unknown |
Het |
Mettl21a |
C |
T |
1: 64,647,288 (GRCm39) |
V90M |
probably damaging |
Het |
Mfsd4b1 |
A |
T |
10: 39,883,374 (GRCm39) |
N25K |
probably damaging |
Het |
Mmd |
T |
A |
11: 90,167,579 (GRCm39) |
F203I |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,401,108 (GRCm39) |
V3028M |
probably benign |
Het |
Nlrp1a |
T |
A |
11: 70,998,826 (GRCm39) |
N859I |
unknown |
Het |
Nrcam |
T |
C |
12: 44,584,034 (GRCm39) |
L36P |
possibly damaging |
Het |
Nup107 |
C |
A |
10: 117,593,917 (GRCm39) |
E759* |
probably null |
Het |
Or14a259 |
A |
G |
7: 86,013,476 (GRCm39) |
I23T |
not run |
Het |
Pcdh7 |
T |
G |
5: 57,876,976 (GRCm39) |
I177S |
probably damaging |
Het |
Pde6a |
T |
C |
18: 61,365,938 (GRCm39) |
I221T |
probably benign |
Het |
Ptpn13 |
A |
T |
5: 103,709,828 (GRCm39) |
N1497I |
probably damaging |
Het |
Rmc1 |
T |
A |
18: 12,322,320 (GRCm39) |
I591N |
possibly damaging |
Het |
Rpl4 |
T |
A |
9: 64,084,661 (GRCm39) |
H245Q |
probably benign |
Het |
Rsf1 |
C |
CCACGGCGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scara5 |
A |
G |
14: 65,968,600 (GRCm39) |
D291G |
possibly damaging |
Het |
Septin14 |
T |
A |
5: 129,760,583 (GRCm39) |
I422L |
probably benign |
Het |
Serpina1e |
T |
C |
12: 103,917,151 (GRCm39) |
K173E |
probably benign |
Het |
Slc5a1 |
C |
T |
5: 33,318,279 (GRCm39) |
T644I |
probably benign |
Het |
Slc6a13 |
A |
T |
6: 121,314,334 (GRCm39) |
T590S |
probably benign |
Het |
Smarca4 |
C |
T |
9: 21,578,658 (GRCm39) |
T938I |
possibly damaging |
Het |
Stxbp1 |
A |
T |
2: 32,691,832 (GRCm39) |
D453E |
probably benign |
Het |
Tenm3 |
A |
G |
8: 49,099,368 (GRCm39) |
C146R |
probably damaging |
Het |
Trim11 |
T |
C |
11: 58,869,180 (GRCm39) |
C39R |
probably damaging |
Het |
Trim37 |
A |
G |
11: 87,068,821 (GRCm39) |
Y389C |
probably damaging |
Het |
Ttll8 |
C |
T |
15: 88,798,368 (GRCm39) |
G789D |
probably damaging |
Het |
Tubb2a |
C |
T |
13: 34,258,776 (GRCm39) |
S338N |
probably benign |
Het |
Ulk2 |
G |
A |
11: 61,744,127 (GRCm39) |
Q50* |
probably null |
Het |
Urgcp |
T |
C |
11: 5,666,406 (GRCm39) |
D687G |
probably benign |
Het |
Usp13 |
C |
T |
3: 32,892,054 (GRCm39) |
H78Y |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,296 (GRCm39) |
D223E |
probably benign |
Het |
Vwc2 |
G |
A |
11: 11,065,929 (GRCm39) |
A6T |
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 |
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 |
|
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'- TTTGGATTGGGAATACTCAGCC -3'
(R):5'- AATTTCAAGGCATCGATTCAGG -3'
Sequencing Primer
(F):5'- CCCTGACTTCCAAATGATGA -3'
(R):5'- TGACGAGCTTGATCATTAGCAGC -3'
|
Posted On |
2019-11-12 |