Incidental Mutation 'R1126:Tcf12'
| ID | 96175 |
|---|
| 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 |
039199-MU
|
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Essential (E-score: 1.000)
|
|---|
| Stock # | R1126 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 9 |
|---|
| Chromosomal Location | 71842688-72111871 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
A to G
at 72000433 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Methionine to Threonine
at position 99
(M99T)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138832
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184107]
[ENSMUST00000184416]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000184867]
[ENSMUST00000185117]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034755
AA Change: M103T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: M103T
| 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: M103T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: M103T
| 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 |
unknown
Transcript: ENSMUST00000183647
AA Change: M14T
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183992
AA Change: M103T
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: M103T
| 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 benign
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: ENSMUST00000184107
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184196
|
|---|
| Predicted Effect |
unknown
Transcript: ENSMUST00000184416
AA Change: M15T
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184523
AA Change: M99T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: M99T
| 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: M103T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: M103T
| 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: M103T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: M103T
| 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: ENSMUST00000192895
|
|---|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
|---|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 46,109,638 |
E1226G |
probably damaging |
Het |
| Arhgef40 |
G |
T |
14: 51,997,126 |
S962I |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,778,954 |
M477K |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,906,826 |
|
probably null |
Het |
| Ephb3 |
T |
A |
16: 21,222,476 |
M727K |
possibly damaging |
Het |
| Exo5 |
A |
T |
4: 120,922,125 |
I181N |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,321,192 |
|
probably null |
Het |
| Gas6 |
T |
C |
8: 13,483,700 |
N103S |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,792,873 |
C140* |
probably null |
Het |
| Il6st |
T |
C |
13: 112,503,732 |
Y681H |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,889,961 |
|
probably null |
Het |
| Kdm5b |
C |
T |
1: 134,613,991 |
A768V |
possibly damaging |
Het |
| Krt83 |
A |
T |
15: 101,487,482 |
N336K |
probably damaging |
Het |
| Mfsd6 |
A |
G |
1: 52,709,511 |
V65A |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,884,081 |
N90S |
probably benign |
Het |
| Nlrp9a |
C |
A |
7: 26,560,741 |
D640E |
probably benign |
Het |
| Olfr137 |
A |
G |
17: 38,304,688 |
C258R |
probably damaging |
Het |
| Olfr365 |
A |
T |
2: 37,202,101 |
M287L |
probably benign |
Het |
| Olfr473 |
A |
C |
7: 107,934,371 |
M284L |
possibly damaging |
Het |
| Olfr747 |
C |
T |
14: 50,681,263 |
A124T |
possibly damaging |
Het |
| Parp9 |
G |
A |
16: 35,947,740 |
V97I |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,458,220 |
T12A |
possibly damaging |
Het |
| Penk |
T |
C |
4: 4,138,119 |
T9A |
probably benign |
Het |
| Pilrb2 |
T |
C |
5: 137,870,960 |
D126G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,816,314 |
V1807E |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,906,795 |
E450G |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,642,689 |
R703G |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,634,535 |
V238M |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 119,153,995 |
D92G |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,030,469 |
G1168D |
probably damaging |
Het |
| Saxo1 |
T |
A |
4: 86,478,987 |
T105S |
probably benign |
Het |
| Slc39a2 |
G |
A |
14: 51,894,145 |
G58R |
probably damaging |
Het |
| Tbx6 |
C |
T |
7: 126,784,719 |
T315I |
probably damaging |
Het |
| Tdrd3 |
A |
G |
14: 87,480,774 |
D197G |
probably damaging |
Het |
| Tnc |
T |
C |
4: 64,018,120 |
N193S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,850,003 |
|
probably benign |
Het |
| Vmn1r225 |
A |
G |
17: 20,502,326 |
I10V |
probably benign |
Het |
| Zp3r |
A |
G |
1: 130,618,342 |
L77P |
probably damaging |
Het |
|
|---|
| Other mutations in Tcf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Tcf12
|
APN |
9 |
71868118 |
missense |
probably damaging |
0.98 |
|
IGL01311:Tcf12
|
APN |
9 |
71858656 |
splice site |
probably benign |
|
|
IGL01734:Tcf12
|
APN |
9 |
71922648 |
splice site |
probably null |
|
|
IGL01768:Tcf12
|
APN |
9 |
71868996 |
splice site |
probably null |
|
|
IGL02625:Tcf12
|
APN |
9 |
71922757 |
missense |
probably damaging |
1.00 |
|
IGL02671:Tcf12
|
APN |
9 |
72109717 |
missense |
probably damaging |
1.00 |
|
IGL03395:Tcf12
|
APN |
9 |
71876022 |
missense |
probably damaging |
1.00 |
|
Beneath
|
UTSW |
9 |
71883103 |
splice site |
probably null |
|
|
Poorly
|
UTSW |
9 |
71944016 |
nonsense |
probably null |
|
|
Poorly2
|
UTSW |
9 |
71858929 |
missense |
probably damaging |
1.00 |
|
Poorly3
|
UTSW |
9 |
72015636 |
critical splice donor site |
probably null |
|
|
Substandard
|
UTSW |
9 |
71858840 |
missense |
probably null |
0.54 |
|
R0183:Tcf12
|
UTSW |
9 |
71917027 |
missense |
probably damaging |
0.99 |
|
R0257:Tcf12
|
UTSW |
9 |
71858622 |
missense |
probably benign |
0.05 |
|
R1520:Tcf12
|
UTSW |
9 |
71883106 |
critical splice donor site |
probably null |
|
|
R1690:Tcf12
|
UTSW |
9 |
71870072 |
critical splice donor site |
probably null |
|
|
R1819:Tcf12
|
UTSW |
9 |
72109717 |
missense |
probably damaging |
1.00 |
|
R1850:Tcf12
|
UTSW |
9 |
71868215 |
missense |
probably damaging |
1.00 |
|
R1888:Tcf12
|
UTSW |
9 |
71858534 |
missense |
possibly damaging |
0.89 |
|
R1888:Tcf12
|
UTSW |
9 |
71858534 |
missense |
possibly damaging |
0.89 |
|
R2402:Tcf12
|
UTSW |
9 |
71856510 |
missense |
probably damaging |
1.00 |
|
R4445:Tcf12
|
UTSW |
9 |
71869063 |
missense |
probably damaging |
0.99 |
|
R4693:Tcf12
|
UTSW |
9 |
71868967 |
intron |
probably benign |
|
|
R4814:Tcf12
|
UTSW |
9 |
71870041 |
intron |
probably benign |
|
|
R4860:Tcf12
|
UTSW |
9 |
71858840 |
missense |
probably null |
0.54 |
|
R4860:Tcf12
|
UTSW |
9 |
71858840 |
missense |
probably null |
0.54 |
|
R4885:Tcf12
|
UTSW |
9 |
71858840 |
missense |
probably null |
0.54 |
|
R5347:Tcf12
|
UTSW |
9 |
71885243 |
missense |
probably damaging |
1.00 |
|
R5422:Tcf12
|
UTSW |
9 |
71869038 |
missense |
probably damaging |
1.00 |
|
R5650:Tcf12
|
UTSW |
9 |
71885302 |
splice site |
probably null |
|
|
R5713:Tcf12
|
UTSW |
9 |
71885263 |
makesense |
probably null |
|
|
R5789:Tcf12
|
UTSW |
9 |
71885236 |
missense |
probably damaging |
1.00 |
|
R5964:Tcf12
|
UTSW |
9 |
71868240 |
missense |
probably damaging |
1.00 |
|
R6012:Tcf12
|
UTSW |
9 |
71858947 |
missense |
possibly damaging |
0.62 |
|
R6119:Tcf12
|
UTSW |
9 |
71868265 |
missense |
probably damaging |
1.00 |
|
R6240:Tcf12
|
UTSW |
9 |
71944016 |
nonsense |
probably null |
|
|
R6299:Tcf12
|
UTSW |
9 |
71858929 |
missense |
probably damaging |
1.00 |
|
R6449:Tcf12
|
UTSW |
9 |
71868268 |
missense |
probably damaging |
1.00 |
|
R6489:Tcf12
|
UTSW |
9 |
72015636 |
critical splice donor site |
probably null |
|
|
R6984:Tcf12
|
UTSW |
9 |
72006759 |
nonsense |
probably null |
|
|
R7146:Tcf12
|
UTSW |
9 |
71883103 |
splice site |
probably null |
|
|
R7734:Tcf12
|
UTSW |
9 |
71922661 |
missense |
probably benign |
0.00 |
|
R7955:Tcf12
|
UTSW |
9 |
71870070 |
splice site |
probably null |
|
|
X0021:Tcf12
|
UTSW |
9 |
71883172 |
missense |
probably damaging |
0.99 |
|
X0022:Tcf12
|
UTSW |
9 |
72109743 |
missense |
probably damaging |
0.99 |
|
Z1177:Tcf12
|
UTSW |
9 |
72000460 |
missense |
possibly damaging |
0.76 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- CGGTGAGAGGTCTAACCCTTCAAAC -3'
(R):5'- AGCCTGTGCATTCATAAGGTGCTAC -3'
Sequencing Primer
(F):5'- TCTGGCTCAGAGAACTTGC -3'
(R):5'- ATAAGGTGCTACTGTACACTCC -3'
|
|---|
| Posted On | 2014-01-05 |
|---|
