Incidental Mutation 'R8007:Tcf12'
| ID |
628786 |
| 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 |
046047-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8007 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to C
at 71841905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(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
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
| 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 |
|
| 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 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 |
probably benign
Transcript: ENSMUST00000184416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184523
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
| 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
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,647,845 (GRCm39) |
|
probably benign |
Het |
| A430033K04Rik |
T |
C |
5: 138,644,901 (GRCm39) |
I262T |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,356,935 (GRCm39) |
R1289G |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,121,233 (GRCm39) |
H433L |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,585 (GRCm39) |
F5948L |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,969,707 (GRCm39) |
D97E |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,963 (GRCm39) |
T543A |
probably benign |
Het |
| Ank2 |
G |
C |
3: 126,730,096 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,289,405 (GRCm39) |
A813V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,863,442 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cenpf |
G |
A |
1: 189,379,144 (GRCm39) |
P35L |
|
Het |
| Chtf18 |
A |
G |
17: 25,944,508 (GRCm39) |
F281L |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,305 (GRCm39) |
V257A |
probably damaging |
Het |
| Cnmd |
A |
T |
14: 79,875,406 (GRCm39) |
V338E |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,705,179 (GRCm39) |
F2848V |
unknown |
Het |
| Corin |
T |
C |
5: 72,473,446 (GRCm39) |
S888G |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,457,465 (GRCm39) |
S309C |
probably null |
Het |
| Dmxl2 |
G |
A |
9: 54,290,975 (GRCm39) |
Q2492* |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,197,465 (GRCm39) |
R12Q |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,566,265 (GRCm39) |
I509T |
probably damaging |
Het |
| F13b |
A |
G |
1: 139,434,680 (GRCm39) |
K149E |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,700,353 (GRCm39) |
I2159T |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,765,719 (GRCm39) |
Y831* |
probably null |
Het |
| Foxp1 |
A |
T |
6: 98,918,595 (GRCm39) |
S514R |
unknown |
Het |
| Gm11569 |
A |
G |
11: 99,689,688 (GRCm39) |
S4P |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,503,740 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,179 (GRCm39) |
|
probably null |
Het |
| Ibtk |
A |
T |
9: 85,572,770 (GRCm39) |
D1257E |
probably benign |
Het |
| Ip6k2 |
T |
C |
9: 108,682,955 (GRCm39) |
V355A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,217,073 (GRCm39) |
R259H |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,963,884 (GRCm39) |
E425D |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgi2 |
C |
A |
5: 52,723,375 (GRCm39) |
A25S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,336,849 (GRCm39) |
T1308A |
probably benign |
Het |
| Ly6g2 |
A |
G |
15: 75,088,552 (GRCm39) |
T7A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,426,315 (GRCm39) |
N609I |
probably benign |
Het |
| Mocs2 |
T |
A |
13: 114,957,409 (GRCm39) |
S9T |
possibly damaging |
Het |
| Nebl |
T |
A |
2: 17,375,300 (GRCm39) |
I102F |
|
Het |
| Nudt19 |
A |
G |
7: 35,255,045 (GRCm39) |
V62A |
probably benign |
Het |
| Or10u4 |
T |
A |
10: 129,801,744 (GRCm39) |
D269V |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,855 (GRCm39) |
R302W |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,270,684 (GRCm39) |
|
|
Het |
| Or4k42 |
A |
T |
2: 111,320,068 (GRCm39) |
V145E |
probably damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,919 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,609,874 (GRCm39) |
I1529T |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,946 (GRCm39) |
H651L |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,087,288 (GRCm39) |
L321P |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,565 (GRCm39) |
S549T |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,976,767 (GRCm39) |
N254K |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,060 (GRCm39) |
N1260D |
possibly damaging |
Het |
| Samd7 |
T |
A |
3: 30,812,531 (GRCm39) |
W324R |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,605 (GRCm39) |
I13V |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,865 (GRCm39) |
L284S |
possibly damaging |
Het |
| Slc25a38 |
T |
A |
9: 119,951,208 (GRCm39) |
I247K |
possibly damaging |
Het |
| Smarce1 |
G |
C |
11: 99,115,876 (GRCm39) |
N48K |
possibly damaging |
Het |
| Stmn4 |
T |
G |
14: 66,593,032 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
C |
9: 36,653,065 (GRCm39) |
T539R |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,042,969 (GRCm39) |
V388I |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,525 (GRCm39) |
F23S |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Yae1d1 |
G |
A |
13: 18,164,329 (GRCm39) |
S96L |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,610,655 (GRCm39) |
I1047V |
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 |
|
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 |
|
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'- TCAGGGAGGGTTAGTGTATACAGC -3'
(R):5'- CCCTGTAGTGACAAGCAAAAGG -3'
Sequencing Primer
(F):5'- CTATGTGGCTATGGGGAAACTCTCAC -3'
(R):5'- CAAAAGGCTTTCTGATTGTTAGTG -3'
|
| Posted On |
2020-06-25 |
Incidental Mutation