Incidental Mutation 'R6489:Tcf12'
ID |
522656 |
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 |
044621-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6489 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
71751534-72019611 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 71922918 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]
[ENSMUST00000184783]
[ENSMUST00000185117]
[ENSMUST00000184867]
[ENSMUST00000184107]
[ENSMUST00000184523]
|
AlphaFold |
Q61286 |
Predicted Effect |
probably null
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 null
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 null
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: 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 null
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 null
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184867
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184196
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194599
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184107
|
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 |
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.3%
- 20x: 90.6%
|
Validation Efficiency |
100% (61/61) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadvl |
T |
C |
11: 69,901,145 (GRCm39) |
T650A |
probably benign |
Het |
Alkbh7 |
T |
A |
17: 57,305,979 (GRCm39) |
S127T |
probably damaging |
Het |
Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
App |
G |
T |
16: 84,853,408 (GRCm39) |
D223E |
unknown |
Het |
Arhgef2 |
C |
A |
3: 88,550,321 (GRCm39) |
S675R |
probably damaging |
Het |
Atg14 |
T |
C |
14: 47,786,480 (GRCm39) |
D258G |
probably damaging |
Het |
Calhm5 |
A |
T |
10: 33,968,502 (GRCm39) |
W184R |
probably damaging |
Het |
Cbr1b |
A |
T |
16: 93,427,286 (GRCm39) |
|
probably null |
Het |
Ckap2l |
T |
C |
2: 129,111,034 (GRCm39) |
D721G |
possibly damaging |
Het |
Cog8 |
T |
C |
8: 107,776,933 (GRCm39) |
T481A |
probably benign |
Het |
Colec10 |
C |
A |
15: 54,325,609 (GRCm39) |
|
probably null |
Het |
Cplx3 |
A |
T |
9: 57,521,009 (GRCm39) |
|
probably null |
Het |
Dhx9 |
T |
C |
1: 153,332,389 (GRCm39) |
|
probably benign |
Het |
Dock1 |
T |
C |
7: 134,592,270 (GRCm39) |
M935T |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,604,420 (GRCm39) |
N962K |
possibly damaging |
Het |
Dym |
T |
C |
18: 75,213,297 (GRCm39) |
V173A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,395,131 (GRCm39) |
Y583C |
probably damaging |
Het |
Flnb |
G |
A |
14: 7,867,551 (GRCm38) |
V103M |
probably damaging |
Het |
Fzd1 |
T |
A |
5: 4,807,336 (GRCm39) |
Q82L |
probably benign |
Het |
Gabrr1 |
A |
G |
4: 33,162,855 (GRCm39) |
I474V |
probably benign |
Het |
Galnt11 |
G |
T |
5: 25,469,964 (GRCm39) |
W521L |
probably damaging |
Het |
Glb1l3 |
A |
G |
9: 26,738,127 (GRCm39) |
V420A |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,888 (GRCm39) |
L87* |
probably null |
Het |
Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
Ihh |
T |
A |
1: 74,985,670 (GRCm39) |
T272S |
probably damaging |
Het |
Il27ra |
T |
C |
8: 84,758,179 (GRCm39) |
M524V |
probably benign |
Het |
Mdp1 |
C |
A |
14: 55,897,848 (GRCm39) |
|
probably benign |
Het |
Med12l |
A |
G |
3: 59,164,828 (GRCm39) |
K1436R |
probably damaging |
Het |
Megf10 |
C |
T |
18: 57,424,879 (GRCm39) |
S1006F |
probably benign |
Het |
Miga1 |
A |
T |
3: 151,984,645 (GRCm39) |
I426N |
probably damaging |
Het |
Mtmr6 |
C |
T |
14: 60,537,963 (GRCm39) |
T654I |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,370,101 (GRCm39) |
S2673G |
possibly damaging |
Het |
Nup93 |
T |
A |
8: 95,028,716 (GRCm39) |
H193Q |
probably benign |
Het |
Or1e25 |
T |
A |
11: 73,494,265 (GRCm39) |
N286K |
probably damaging |
Het |
Or4f7 |
A |
C |
2: 111,644,405 (GRCm39) |
L222W |
probably damaging |
Het |
Or52ae9 |
T |
C |
7: 103,389,875 (GRCm39) |
N191D |
probably benign |
Het |
Pdcd11 |
C |
T |
19: 47,098,191 (GRCm39) |
R826C |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,662,907 (GRCm39) |
R521* |
probably null |
Het |
Phf2 |
T |
C |
13: 48,979,658 (GRCm39) |
S158G |
unknown |
Het |
Pla2g15 |
A |
G |
8: 106,889,826 (GRCm39) |
E366G |
probably benign |
Het |
Plekhm2 |
A |
T |
4: 141,359,344 (GRCm39) |
H494Q |
probably damaging |
Het |
Prpsap2 |
A |
T |
11: 61,639,890 (GRCm39) |
M87K |
probably damaging |
Het |
Rbm19 |
T |
G |
5: 120,258,195 (GRCm39) |
S137A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,848,893 (GRCm39) |
I363L |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,896 (GRCm39) |
T122A |
probably benign |
Het |
Scn4a |
G |
C |
11: 106,240,006 (GRCm39) |
D70E |
probably benign |
Het |
Slc12a3 |
T |
A |
8: 95,061,632 (GRCm39) |
V293D |
possibly damaging |
Het |
Slc6a7 |
T |
C |
18: 61,140,615 (GRCm39) |
Y139C |
probably damaging |
Het |
Slco2b1 |
A |
T |
7: 99,339,762 (GRCm39) |
C9* |
probably null |
Het |
Slitrk1 |
A |
T |
14: 109,148,735 (GRCm39) |
S659T |
possibly damaging |
Het |
Son |
T |
G |
16: 91,452,044 (GRCm39) |
S264A |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,100,066 (GRCm39) |
G1326V |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,645,062 (GRCm39) |
V11185A |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,203,574 (GRCm39) |
|
probably null |
Het |
Utp15 |
G |
T |
13: 98,387,117 (GRCm39) |
F434L |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vsnl1 |
T |
G |
12: 11,382,219 (GRCm39) |
|
probably benign |
Het |
Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
Zbtb34 |
A |
C |
2: 33,301,558 (GRCm39) |
S328A |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,346,637 (GRCm39) |
I1672T |
possibly 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 |
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 |
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'- ACTGTAGGCAAAGCAGATCTG -3'
(R):5'- CATACCATCATGTGAACTTCGTTC -3'
Sequencing Primer
(F):5'- GCAAAGCAGATCTGGATAATACC -3'
(R):5'- GTTCTCTTATGCACTATCTGAAACG -3'
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Posted On |
2018-06-06 |