Incidental Mutation 'R5964:Tcf12'
ID |
471955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tcf12
|
Ensembl Gene |
ENSMUSG00000032228 |
Gene Name |
transcription factor 12 |
Synonyms |
HTF-4, ALF1, HEB, bHLHb20, HEBAlt, REB, HTF4, ME1 |
MMRRC Submission |
044149-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71842688-72111871 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71868240 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 409
(D409E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183918]
[ENSMUST00000183992]
[ENSMUST00000184448]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034755
AA Change: D409E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: D409E
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: ENSMUST00000183404
AA Change: D433E
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: D433E
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 |
possibly damaging
Transcript: ENSMUST00000183918
AA Change: D263E
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: D263E
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: D409E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139084 Gene: ENSMUSG00000032228 AA Change: D409E
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: D239E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: D239E
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: D429E
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: D429E
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 |
possibly damaging
Transcript: ENSMUST00000184783
AA Change: D433E
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: D433E
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 damaging
Transcript: ENSMUST00000185117
AA Change: D409E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: D409E
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 |
|
Meta Mutation Damage Score |
0.2817  |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
Validation Efficiency |
96% (87/91) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
G |
A |
3: 89,343,567 (GRCm38) |
Q581* |
probably null |
Het |
Agl |
A |
G |
3: 116,793,774 (GRCm38) |
V44A |
probably damaging |
Het |
Alpk3 |
T |
A |
7: 81,092,260 (GRCm38) |
D608E |
possibly damaging |
Het |
Aspm |
C |
A |
1: 139,455,227 (GRCm38) |
|
probably benign |
Het |
Bbs2 |
T |
C |
8: 94,068,367 (GRCm38) |
N692S |
probably benign |
Het |
Bend4 |
A |
G |
5: 67,417,818 (GRCm38) |
I240T |
probably benign |
Het |
Casp8 |
G |
T |
1: 58,833,736 (GRCm38) |
R277L |
possibly damaging |
Het |
Ccdc61 |
A |
T |
7: 18,900,940 (GRCm38) |
I123N |
probably damaging |
Het |
Ccr9 |
T |
G |
9: 123,779,434 (GRCm38) |
I60M |
probably benign |
Het |
Cd163 |
T |
A |
6: 124,326,572 (GRCm38) |
W1066R |
probably benign |
Het |
Cd226 |
A |
T |
18: 89,207,183 (GRCm38) |
H68L |
probably benign |
Het |
Cdkn3 |
T |
A |
14: 46,767,217 (GRCm38) |
C79S |
probably null |
Het |
Cnnm1 |
A |
T |
19: 43,469,723 (GRCm38) |
E658V |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,956,029 (GRCm38) |
R304G |
probably damaging |
Het |
Cpt1a |
T |
A |
19: 3,365,760 (GRCm38) |
V286E |
possibly damaging |
Het |
Creg2 |
C |
A |
1: 39,624,954 (GRCm38) |
R212L |
probably benign |
Het |
Cyp26a1 |
T |
G |
19: 37,699,962 (GRCm38) |
S311A |
probably damaging |
Het |
Cyp2b10 |
T |
C |
7: 25,926,223 (GRCm38) |
Y484H |
probably benign |
Het |
Cyp3a44 |
T |
A |
5: 145,788,467 (GRCm38) |
Y308F |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,164,089 (GRCm38) |
V744A |
probably benign |
Het |
Dlgap2 |
T |
A |
8: 14,727,128 (GRCm38) |
Y124* |
probably null |
Het |
Dnah3 |
T |
C |
7: 119,922,880 (GRCm38) |
D4030G |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,458,584 (GRCm38) |
T4456A |
possibly damaging |
Het |
Dtx2 |
T |
A |
5: 136,023,699 (GRCm38) |
V347D |
probably benign |
Het |
Gigyf2 |
C |
T |
1: 87,407,167 (GRCm38) |
T294M |
probably damaging |
Het |
Gli3 |
C |
G |
13: 15,726,162 (GRCm38) |
S1378* |
probably null |
Het |
Gm884 |
A |
G |
11: 103,542,120 (GRCm38) |
S1232P |
possibly damaging |
Het |
Gnao1 |
G |
A |
8: 93,966,999 (GRCm38) |
D337N |
probably benign |
Het |
Gp2 |
T |
A |
7: 119,449,129 (GRCm38) |
Q422L |
probably benign |
Het |
Ifit1 |
T |
A |
19: 34,648,469 (GRCm38) |
M335K |
possibly damaging |
Het |
Ism1 |
T |
C |
2: 139,678,757 (GRCm38) |
S30P |
probably benign |
Het |
Itgax |
A |
G |
7: 128,140,447 (GRCm38) |
D677G |
probably damaging |
Het |
Kansl1l |
G |
A |
1: 66,725,922 (GRCm38) |
A442V |
probably damaging |
Het |
Kif13a |
T |
C |
13: 46,771,524 (GRCm38) |
I311M |
probably damaging |
Het |
Lsm14b |
T |
A |
2: 180,031,425 (GRCm38) |
S84R |
probably benign |
Het |
Lzts3 |
A |
G |
2: 130,636,288 (GRCm38) |
Y297H |
probably damaging |
Het |
Map4k3 |
A |
G |
17: 80,644,762 (GRCm38) |
I205T |
probably damaging |
Het |
Matn2 |
A |
T |
15: 34,410,165 (GRCm38) |
N501I |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 72,103,177 (GRCm38) |
E776G |
probably damaging |
Het |
Mex3d |
A |
T |
10: 80,382,587 (GRCm38) |
N265K |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,203,833 (GRCm38) |
T1534A |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,704,636 (GRCm38) |
M35V |
probably damaging |
Het |
Nek4 |
G |
A |
14: 30,957,079 (GRCm38) |
|
probably null |
Het |
Ngrn |
T |
C |
7: 80,261,933 (GRCm38) |
|
probably null |
Het |
Nlrp1a |
T |
A |
11: 71,123,020 (GRCm38) |
Q468L |
probably benign |
Het |
Olfr1450 |
A |
C |
19: 12,954,531 (GRCm38) |
Q314P |
probably benign |
Het |
Olfr743 |
T |
A |
14: 50,534,198 (GRCm38) |
M262K |
probably damaging |
Het |
Phtf2 |
T |
C |
5: 20,775,934 (GRCm38) |
D433G |
probably damaging |
Het |
Prdm13 |
G |
A |
4: 21,683,852 (GRCm38) |
Q140* |
probably null |
Het |
Prtg |
G |
A |
9: 72,892,254 (GRCm38) |
G778E |
probably benign |
Het |
Pum3 |
T |
C |
19: 27,420,051 (GRCm38) |
E308G |
probably damaging |
Het |
Pwp1 |
T |
G |
10: 85,882,886 (GRCm38) |
F306V |
probably damaging |
Het |
Rab24 |
A |
T |
13: 55,321,576 (GRCm38) |
Y27N |
probably damaging |
Het |
Rnf215 |
T |
C |
11: 4,135,898 (GRCm38) |
F126L |
probably benign |
Het |
Samd13 |
A |
T |
3: 146,680,696 (GRCm38) |
|
probably benign |
Het |
Serac1 |
T |
A |
17: 6,065,049 (GRCm38) |
H213L |
probably benign |
Het |
Slc45a3 |
A |
G |
1: 131,978,073 (GRCm38) |
E278G |
probably damaging |
Het |
Slit3 |
C |
T |
11: 35,700,236 (GRCm38) |
R1292C |
probably damaging |
Het |
Slx4 |
A |
T |
16: 4,000,951 (GRCm38) |
|
probably null |
Het |
Smarca4 |
C |
A |
9: 21,647,430 (GRCm38) |
T631K |
probably benign |
Het |
Snx16 |
C |
T |
3: 10,434,481 (GRCm38) |
R163Q |
possibly damaging |
Het |
Stk40 |
T |
C |
4: 126,128,895 (GRCm38) |
V140A |
probably damaging |
Het |
Tgfbr2 |
G |
T |
9: 116,110,255 (GRCm38) |
T168K |
possibly damaging |
Het |
Ticam1 |
G |
T |
17: 56,271,703 (GRCm38) |
H131N |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,829,888 (GRCm38) |
R7458I |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,713,511 (GRCm38) |
E31298* |
probably null |
Het |
Usp7 |
A |
G |
16: 8,712,102 (GRCm38) |
V133A |
possibly damaging |
Het |
Wbp1l |
C |
T |
19: 46,654,180 (GRCm38) |
R191* |
probably null |
Het |
Wdfy4 |
T |
C |
14: 33,106,011 (GRCm38) |
E1118G |
probably damaging |
Het |
Zfp81 |
G |
C |
17: 33,336,845 (GRCm38) |
P3A |
probably damaging |
Het |
Znhit6 |
A |
G |
3: 145,576,933 (GRCm38) |
K21R |
possibly damaging |
Het |
|
Other mutations in Tcf12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00671:Tcf12
|
APN |
9 |
71,868,118 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL01311:Tcf12
|
APN |
9 |
71,858,656 (GRCm38) |
splice site |
probably benign |
|
IGL01734:Tcf12
|
APN |
9 |
71,922,648 (GRCm38) |
splice site |
probably null |
|
IGL01768:Tcf12
|
APN |
9 |
71,868,996 (GRCm38) |
splice site |
probably null |
|
IGL02625:Tcf12
|
APN |
9 |
71,922,757 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02671:Tcf12
|
APN |
9 |
72,109,717 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03395:Tcf12
|
APN |
9 |
71,876,022 (GRCm38) |
missense |
probably damaging |
1.00 |
Beneath
|
UTSW |
9 |
71,883,103 (GRCm38) |
splice site |
probably null |
|
depauperate
|
UTSW |
9 |
71,868,268 (GRCm38) |
missense |
probably damaging |
1.00 |
Poorly
|
UTSW |
9 |
71,944,016 (GRCm38) |
nonsense |
probably null |
|
Poorly2
|
UTSW |
9 |
71,858,929 (GRCm38) |
missense |
probably damaging |
1.00 |
Poorly3
|
UTSW |
9 |
72,015,636 (GRCm38) |
critical splice donor site |
probably null |
|
Substandard
|
UTSW |
9 |
71,858,840 (GRCm38) |
missense |
probably null |
0.54 |
R0183:Tcf12
|
UTSW |
9 |
71,917,027 (GRCm38) |
missense |
probably damaging |
0.99 |
R0257:Tcf12
|
UTSW |
9 |
71,858,622 (GRCm38) |
missense |
probably benign |
0.05 |
R1126:Tcf12
|
UTSW |
9 |
72,000,433 (GRCm38) |
missense |
probably benign |
0.09 |
R1520:Tcf12
|
UTSW |
9 |
71,883,106 (GRCm38) |
critical splice donor site |
probably null |
|
R1690:Tcf12
|
UTSW |
9 |
71,870,072 (GRCm38) |
critical splice donor site |
probably null |
|
R1819:Tcf12
|
UTSW |
9 |
72,109,717 (GRCm38) |
missense |
probably damaging |
1.00 |
R1850:Tcf12
|
UTSW |
9 |
71,868,215 (GRCm38) |
missense |
probably damaging |
1.00 |
R1888:Tcf12
|
UTSW |
9 |
71,858,534 (GRCm38) |
missense |
possibly damaging |
0.89 |
R1888:Tcf12
|
UTSW |
9 |
71,858,534 (GRCm38) |
missense |
possibly damaging |
0.89 |
R2402:Tcf12
|
UTSW |
9 |
71,856,510 (GRCm38) |
missense |
probably damaging |
1.00 |
R4445:Tcf12
|
UTSW |
9 |
71,869,063 (GRCm38) |
missense |
probably damaging |
0.99 |
R4693:Tcf12
|
UTSW |
9 |
71,868,967 (GRCm38) |
intron |
probably benign |
|
R4814:Tcf12
|
UTSW |
9 |
71,870,041 (GRCm38) |
intron |
probably benign |
|
R4860:Tcf12
|
UTSW |
9 |
71,858,840 (GRCm38) |
missense |
probably null |
0.54 |
R4860:Tcf12
|
UTSW |
9 |
71,858,840 (GRCm38) |
missense |
probably null |
0.54 |
R4885:Tcf12
|
UTSW |
9 |
71,858,840 (GRCm38) |
missense |
probably null |
0.54 |
R5347:Tcf12
|
UTSW |
9 |
71,885,243 (GRCm38) |
missense |
probably damaging |
1.00 |
R5422:Tcf12
|
UTSW |
9 |
71,869,038 (GRCm38) |
missense |
probably damaging |
1.00 |
R5650:Tcf12
|
UTSW |
9 |
71,885,302 (GRCm38) |
splice site |
probably null |
|
R5713:Tcf12
|
UTSW |
9 |
71,885,263 (GRCm38) |
makesense |
probably null |
|
R5789:Tcf12
|
UTSW |
9 |
71,885,236 (GRCm38) |
missense |
probably damaging |
1.00 |
R6012:Tcf12
|
UTSW |
9 |
71,858,947 (GRCm38) |
missense |
possibly damaging |
0.62 |
R6119:Tcf12
|
UTSW |
9 |
71,868,265 (GRCm38) |
missense |
probably damaging |
1.00 |
R6240:Tcf12
|
UTSW |
9 |
71,944,016 (GRCm38) |
nonsense |
probably null |
|
R6299:Tcf12
|
UTSW |
9 |
71,858,929 (GRCm38) |
missense |
probably damaging |
1.00 |
R6449:Tcf12
|
UTSW |
9 |
71,868,268 (GRCm38) |
missense |
probably damaging |
1.00 |
R6489:Tcf12
|
UTSW |
9 |
72,015,636 (GRCm38) |
critical splice donor site |
probably null |
|
R6984:Tcf12
|
UTSW |
9 |
72,006,759 (GRCm38) |
nonsense |
probably null |
|
R7146:Tcf12
|
UTSW |
9 |
71,883,103 (GRCm38) |
splice site |
probably null |
|
R7734:Tcf12
|
UTSW |
9 |
71,922,661 (GRCm38) |
missense |
probably benign |
0.00 |
R8007:Tcf12
|
UTSW |
9 |
71,934,623 (GRCm38) |
intron |
probably benign |
|
R8161:Tcf12
|
UTSW |
9 |
72,015,651 (GRCm38) |
missense |
probably damaging |
1.00 |
R8709:Tcf12
|
UTSW |
9 |
71,922,787 (GRCm38) |
missense |
probably benign |
0.00 |
R8709:Tcf12
|
UTSW |
9 |
71,858,505 (GRCm38) |
missense |
possibly damaging |
0.62 |
R8711:Tcf12
|
UTSW |
9 |
71,849,815 (GRCm38) |
missense |
possibly damaging |
0.77 |
R9444:Tcf12
|
UTSW |
9 |
72,110,758 (GRCm38) |
missense |
probably damaging |
1.00 |
R9667:Tcf12
|
UTSW |
9 |
71,885,161 (GRCm38) |
missense |
probably benign |
0.00 |
X0021:Tcf12
|
UTSW |
9 |
71,883,172 (GRCm38) |
missense |
probably damaging |
0.99 |
X0022:Tcf12
|
UTSW |
9 |
72,109,743 (GRCm38) |
missense |
probably damaging |
0.99 |
Z1177:Tcf12
|
UTSW |
9 |
72,000,460 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
Predicted Primers |
PCR Primer
(F):5'- CGTGATTTACCATCGAAGCTGATC -3'
(R):5'- TCATAGTCTGAAAAGAGCTGCC -3'
Sequencing Primer
(F):5'- CGACTATTTGTAACAAGGCTGGATCC -3'
(R):5'- AAGTTCAGGTAGTCGGTTTTGAAAC -3'
|
Posted On |
2017-03-31 |