Incidental Mutation 'R2402:Tcf12'
ID |
248762 |
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 |
040368-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2402 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71763792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 397
(N397K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139334
(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: N567K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000034755 Gene: ENSMUSG00000032228 AA Change: N567K
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: N591K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139365 Gene: ENSMUSG00000032228 AA Change: N591K
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: ENSMUST00000183918
AA Change: N421K
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000138978 Gene: ENSMUSG00000032228 AA Change: N421K
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 benign
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 damaging
Transcript: ENSMUST00000184448
AA Change: N397K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139334 Gene: ENSMUSG00000032228 AA Change: N397K
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 damaging
Transcript: ENSMUST00000184523
AA Change: N587K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000138832 Gene: ENSMUSG00000032228 AA Change: N587K
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: N591K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139364 Gene: ENSMUSG00000032228 AA Change: N591K
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: N567K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138925 Gene: ENSMUSG00000032228 AA Change: N567K
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: ENSMUST00000195551
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184867
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 92.5%
|
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 |
Abcc12 |
T |
A |
8: 87,235,770 (GRCm39) |
D1199V |
probably damaging |
Het |
Abcc6 |
A |
T |
7: 45,664,999 (GRCm39) |
S277R |
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,035,280 (GRCm39) |
S269G |
probably damaging |
Het |
Akap10 |
T |
C |
11: 61,806,048 (GRCm39) |
S227G |
probably benign |
Het |
Angptl8 |
T |
C |
9: 21,747,112 (GRCm39) |
|
probably null |
Het |
Arsi |
T |
C |
18: 61,049,539 (GRCm39) |
S141P |
possibly damaging |
Het |
Atic |
T |
A |
1: 71,608,216 (GRCm39) |
Y303* |
probably null |
Het |
Bbs9 |
C |
T |
9: 22,557,359 (GRCm39) |
P510L |
probably benign |
Het |
Bcl2a1b |
A |
G |
9: 89,081,795 (GRCm39) |
N128S |
probably benign |
Het |
Bcl2a1d |
A |
T |
9: 88,613,549 (GRCm39) |
M75K |
probably damaging |
Het |
Carm1 |
T |
A |
9: 21,494,836 (GRCm39) |
L324Q |
probably damaging |
Het |
Caskin1 |
T |
A |
17: 24,722,782 (GRCm39) |
L550Q |
probably damaging |
Het |
Cd302 |
A |
G |
2: 60,087,412 (GRCm39) |
I142T |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,738,882 (GRCm39) |
D2320E |
probably benign |
Het |
Cgnl1 |
A |
G |
9: 71,632,461 (GRCm39) |
S297P |
probably damaging |
Het |
Cr1l |
T |
A |
1: 194,789,210 (GRCm39) |
Y398F |
probably benign |
Het |
Ctsa |
A |
T |
2: 164,676,813 (GRCm39) |
D145V |
probably benign |
Het |
Ctsj |
C |
T |
13: 61,148,388 (GRCm39) |
G303D |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 118,016,800 (GRCm39) |
I250M |
probably benign |
Het |
Doc2a |
C |
A |
7: 126,447,919 (GRCm39) |
C54* |
probably null |
Het |
Dpy19l2 |
T |
C |
9: 24,492,544 (GRCm39) |
T685A |
probably damaging |
Het |
Dtna |
T |
A |
18: 23,728,535 (GRCm39) |
C243* |
probably null |
Het |
Exoc3l4 |
A |
G |
12: 111,388,690 (GRCm39) |
T60A |
possibly damaging |
Het |
Exph5 |
C |
A |
9: 53,286,225 (GRCm39) |
S1102* |
probably null |
Het |
Fhl3 |
T |
C |
4: 124,599,481 (GRCm39) |
Y19H |
probably damaging |
Het |
Flt4 |
A |
G |
11: 49,528,646 (GRCm39) |
E1012G |
possibly damaging |
Het |
Flvcr2 |
A |
G |
12: 85,829,777 (GRCm39) |
N262S |
probably benign |
Het |
Gon4l |
G |
T |
3: 88,766,350 (GRCm39) |
C463F |
probably damaging |
Het |
H2-T10 |
A |
T |
17: 36,428,631 (GRCm39) |
|
probably null |
Het |
Heatr3 |
T |
C |
8: 88,871,200 (GRCm39) |
C185R |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,792,317 (GRCm39) |
V2474A |
probably benign |
Het |
Htr3a |
C |
T |
9: 48,812,795 (GRCm39) |
E215K |
probably damaging |
Het |
Ica1l |
T |
C |
1: 60,045,451 (GRCm39) |
T271A |
probably benign |
Het |
Klra2 |
A |
G |
6: 131,220,864 (GRCm39) |
I66T |
probably benign |
Het |
Neto2 |
T |
C |
8: 86,417,541 (GRCm39) |
K21R |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
Nisch |
T |
A |
14: 30,906,971 (GRCm39) |
|
probably benign |
Het |
Nr4a1 |
G |
T |
15: 101,169,618 (GRCm39) |
R296L |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,496 (GRCm39) |
I184N |
probably damaging |
Het |
Or8b50 |
T |
C |
9: 38,518,397 (GRCm39) |
V212A |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,452,198 (GRCm39) |
C1102* |
probably null |
Het |
Phip |
C |
T |
9: 82,757,358 (GRCm39) |
A1605T |
probably benign |
Het |
Pstpip2 |
T |
A |
18: 77,942,564 (GRCm39) |
M105K |
possibly damaging |
Het |
Qprt |
C |
T |
7: 126,707,532 (GRCm39) |
V219I |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,195,112 (GRCm39) |
N1271K |
probably damaging |
Het |
Reg3g |
A |
T |
6: 78,444,475 (GRCm39) |
L106H |
probably damaging |
Het |
Rhobtb1 |
G |
A |
10: 69,106,254 (GRCm39) |
G273D |
probably benign |
Het |
Rimbp2 |
T |
C |
5: 128,861,952 (GRCm39) |
D771G |
probably damaging |
Het |
Sos2 |
T |
C |
12: 69,643,573 (GRCm39) |
I935V |
possibly damaging |
Het |
Tgtp2 |
T |
C |
11: 48,949,957 (GRCm39) |
Q205R |
probably benign |
Het |
Tle5 |
T |
A |
10: 81,400,712 (GRCm39) |
C89S |
possibly damaging |
Het |
Tubb2b |
T |
C |
13: 34,312,209 (GRCm39) |
N195D |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,095,843 (GRCm39) |
T84A |
probably benign |
Het |
Usb1 |
T |
A |
8: 96,069,759 (GRCm39) |
F102L |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,529 (GRCm39) |
T650A |
possibly damaging |
Het |
Zbtb41 |
A |
C |
1: 139,350,923 (GRCm39) |
D12A |
probably benign |
Het |
Zbtb41 |
G |
T |
1: 139,350,925 (GRCm39) |
E13* |
probably null |
Het |
Zfp821 |
C |
T |
8: 110,447,872 (GRCm39) |
S71F |
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 |
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'- GGGCTGACTTACCTCTCACTTG -3'
(R):5'- CTATTCAGGTGCATTGAAGAAAGG -3'
Sequencing Primer
(F):5'- CTGTTCTAGACTAAGGATGACTGCC -3'
(R):5'- GAAAGGCATTTCCAGTCACATTAAG -3'
|
Posted On |
2014-11-11 |