Incidental Mutation 'R6240:Tcf12'
| ID |
505181 |
| 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 |
044364-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6240 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 71851298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 110
(K110*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034755]
[ENSMUST00000183404]
[ENSMUST00000183492]
[ENSMUST00000183594]
[ENSMUST00000183992]
[ENSMUST00000184072]
[ENSMUST00000184523]
[ENSMUST00000184783]
[ENSMUST00000185117]
[ENSMUST00000184107]
[ENSMUST00000184867]
[ENSMUST00000184416]
|
| AlphaFold |
Q61286 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034755
AA Change: K110*
|
| SMART Domains |
Protein: ENSMUSP00000034755
Gene: ENSMUSG00000032228
AA Change: K110*
| 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 null
Transcript: ENSMUST00000183404
AA Change: K110*
|
| SMART Domains |
Protein: ENSMUSP00000139365
Gene: ENSMUSG00000032228
AA Change: K110*
| 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 null
Transcript: ENSMUST00000183647
AA Change: K21*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183828
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000183992
AA Change: K110*
|
| SMART Domains |
Protein: ENSMUSP00000139084
Gene: ENSMUSG00000032228
AA Change: K110*
| 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 null
Transcript: ENSMUST00000184072
AA Change: K18*
|
| SMART Domains |
Protein: ENSMUSP00000139284
Gene: ENSMUSG00000032228
AA Change: K18*
| 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 null
Transcript: ENSMUST00000184523
AA Change: K106*
|
| SMART Domains |
Protein: ENSMUSP00000138832
Gene: ENSMUSG00000032228
AA Change: K106*
| 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 null
Transcript: ENSMUST00000184783
AA Change: K110*
|
| SMART Domains |
Protein: ENSMUSP00000139364
Gene: ENSMUSG00000032228
AA Change: K110*
| 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 null
Transcript: ENSMUST00000185117
AA Change: K110*
|
| SMART Domains |
Protein: ENSMUSP00000138925
Gene: ENSMUSG00000032228
AA Change: K110*
| 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 |
probably benign
Transcript: ENSMUST00000184107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184867
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193112
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184196
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (62/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
A |
14: 64,223,701 (GRCm39) |
R25L |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,045 (GRCm39) |
S185L |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,286,044 (GRCm39) |
D751V |
probably benign |
Het |
| Adgrg3 |
A |
G |
8: 95,766,544 (GRCm39) |
D405G |
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,852,980 (GRCm39) |
D516G |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,947 (GRCm39) |
D4077V |
probably damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,489,658 (GRCm39) |
R330Q |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,407,997 (GRCm39) |
V2170A |
unknown |
Het |
| Asxl3 |
C |
T |
18: 22,598,565 (GRCm39) |
L227F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,650,253 (GRCm39) |
I119V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,694,640 (GRCm39) |
S1618T |
probably benign |
Het |
| Cad |
T |
A |
5: 31,230,322 (GRCm39) |
M1512K |
probably benign |
Het |
| Cdc25a |
A |
G |
9: 109,713,226 (GRCm39) |
T172A |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,227,022 (GRCm39) |
D161G |
possibly damaging |
Het |
| Clmp |
A |
G |
9: 40,693,707 (GRCm39) |
N308S |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,199,596 (GRCm39) |
|
probably null |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| E4f1 |
A |
G |
17: 24,663,556 (GRCm39) |
S524P |
possibly damaging |
Het |
| Epha5 |
G |
C |
5: 84,265,438 (GRCm39) |
A452G |
probably benign |
Het |
| Fzd3 |
T |
C |
14: 65,447,304 (GRCm39) |
T542A |
probably damaging |
Het |
| Glyctk |
A |
T |
9: 106,033,461 (GRCm39) |
|
probably null |
Het |
| Gm10382 |
G |
A |
5: 125,466,660 (GRCm39) |
|
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,904,281 (GRCm39) |
M127L |
probably benign |
Het |
| Hoxc10 |
T |
A |
15: 102,879,265 (GRCm39) |
W262R |
probably damaging |
Het |
| Icam5 |
T |
A |
9: 20,944,454 (GRCm39) |
W52R |
possibly damaging |
Het |
| Jazf1 |
A |
T |
6: 52,754,537 (GRCm39) |
C180S |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 188,975,179 (GRCm39) |
W286R |
probably damaging |
Het |
| Kcnmb2 |
C |
T |
3: 32,236,045 (GRCm39) |
S98F |
probably damaging |
Het |
| Mob3a |
C |
G |
10: 80,525,698 (GRCm39) |
E204D |
possibly damaging |
Het |
| Morc3 |
C |
G |
16: 93,659,572 (GRCm39) |
H459D |
probably damaging |
Het |
| Mroh2b |
A |
T |
15: 4,964,126 (GRCm39) |
N876I |
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,420,930 (GRCm39) |
T257S |
probably damaging |
Het |
| Nat1 |
A |
T |
8: 67,944,354 (GRCm39) |
R243S |
possibly damaging |
Het |
| Nudt9 |
T |
C |
5: 104,194,955 (GRCm39) |
V17A |
probably benign |
Het |
| Or13p8 |
A |
G |
4: 118,583,668 (GRCm39) |
S75G |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,843,970 (GRCm39) |
I146T |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,707 (GRCm39) |
D82G |
probably benign |
Het |
| Or4m1 |
A |
G |
14: 50,558,043 (GRCm39) |
V83A |
probably benign |
Het |
| Or6c70 |
C |
A |
10: 129,710,546 (GRCm39) |
V27L |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,704 (GRCm39) |
L753P |
probably damaging |
Het |
| Pcf11 |
T |
A |
7: 92,295,710 (GRCm39) |
E1446D |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,721,176 (GRCm39) |
I267V |
probably benign |
Het |
| Plk2 |
T |
A |
13: 110,536,008 (GRCm39) |
Y571N |
probably damaging |
Het |
| Plk2 |
T |
A |
13: 110,536,568 (GRCm39) |
V620E |
probably damaging |
Het |
| Prag1 |
T |
C |
8: 36,570,506 (GRCm39) |
L363P |
probably benign |
Het |
| Psmd3 |
A |
G |
11: 98,584,479 (GRCm39) |
T387A |
probably damaging |
Het |
| Ptgs1 |
G |
A |
2: 36,127,297 (GRCm39) |
C61Y |
probably damaging |
Het |
| Rab18 |
T |
C |
18: 6,784,635 (GRCm39) |
Y109H |
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,779,027 (GRCm39) |
P358L |
probably damaging |
Het |
| Smarcc2 |
C |
T |
10: 128,323,893 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
G |
A |
13: 50,855,453 (GRCm39) |
D364N |
probably damaging |
Het |
| Srgap1 |
A |
G |
10: 121,883,061 (GRCm39) |
I13T |
probably benign |
Het |
| Tdrd1 |
T |
C |
19: 56,829,767 (GRCm39) |
S214P |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Tmem255b |
A |
G |
8: 13,504,216 (GRCm39) |
Y136C |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,123,179 (GRCm39) |
I448F |
possibly damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,000,337 (GRCm39) |
I335M |
probably damaging |
Het |
| Vmn1r1 |
T |
C |
1: 181,985,186 (GRCm39) |
T160A |
probably damaging |
Het |
| Vmn1r203 |
A |
G |
13: 22,708,899 (GRCm39) |
N227D |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,464,226 (GRCm39) |
S203C |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,848 (GRCm39) |
T357A |
possibly damaging |
Het |
| Zfp872 |
A |
G |
9: 22,111,180 (GRCm39) |
K220E |
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 |
|
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 |
|
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'- GGAATAGGTGAGAACTTATTTCCAGAC -3'
(R):5'- TGCTTCAGTGTTCAGTCGTC -3'
Sequencing Primer
(F):5'- CCAGACATAAGATGCATTTAGAAAGC -3'
(R):5'- AAATATGTGTGAATGTCCTCTGTGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation