Incidental Mutation 'IGL02140:Grhl2'
| ID |
281523 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grhl2
|
| Ensembl Gene |
ENSMUSG00000022286 |
| Gene Name |
grainyhead like transcription factor 2 |
| Synonyms |
BOM, grainyheadlike, 0610015A08Rik, clft3, Tcfcp2l3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02140
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
37233280-37363813 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 37270830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022895]
[ENSMUST00000161405]
[ENSMUST00000161532]
|
| AlphaFold |
Q8K5C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022895
|
| SMART Domains |
Protein: ENSMUSP00000022895
Gene: ENSMUSG00000022286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
214 |
438 |
8.5e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161405
|
| SMART Domains |
Protein: ENSMUSP00000125410
Gene: ENSMUSG00000022286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
209 |
434 |
2.1e-79 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161532
|
| Coding Region Coverage |
|
| 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 transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
A |
12: 71,195,034 (GRCm39) |
V144I |
probably benign |
Het |
| B3gat1 |
A |
G |
9: 26,669,043 (GRCm39) |
K325E |
possibly damaging |
Het |
| Cd36 |
T |
A |
5: 18,033,766 (GRCm39) |
|
probably benign |
Het |
| Ces3a |
A |
G |
8: 105,782,263 (GRCm39) |
E325G |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,639 (GRCm39) |
G136D |
unknown |
Het |
| Cyp3a25 |
T |
G |
5: 145,946,273 (GRCm39) |
|
probably benign |
Het |
| Cyp3a59 |
T |
C |
5: 146,039,690 (GRCm39) |
L321P |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,095,391 (GRCm39) |
S34P |
probably damaging |
Het |
| Defa27 |
A |
T |
8: 21,805,674 (GRCm39) |
K13* |
probably null |
Het |
| Disp2 |
T |
C |
2: 118,621,350 (GRCm39) |
F694S |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,437,732 (GRCm39) |
A454S |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,147,791 (GRCm39) |
D946E |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,791,379 (GRCm39) |
E880G |
probably damaging |
Het |
| Fgfr4 |
T |
C |
13: 55,308,992 (GRCm39) |
V371A |
probably benign |
Het |
| Frem3 |
G |
T |
8: 81,340,736 (GRCm39) |
V1010F |
possibly damaging |
Het |
| Gm13283 |
G |
A |
4: 88,679,272 (GRCm39) |
V88I |
probably benign |
Het |
| Gm5134 |
G |
A |
10: 75,821,945 (GRCm39) |
V260I |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,820,920 (GRCm39) |
W1090R |
probably damaging |
Het |
| Hydin |
G |
A |
8: 111,293,570 (GRCm39) |
V3506I |
probably benign |
Het |
| Igkc |
C |
T |
6: 70,703,559 (GRCm39) |
R47* |
probably null |
Het |
| Iglv3 |
T |
A |
16: 19,060,160 (GRCm39) |
Q56L |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,079,831 (GRCm39) |
M436K |
probably benign |
Het |
| Kcnma1 |
T |
A |
14: 23,359,113 (GRCm39) |
K1110N |
probably damaging |
Het |
| Marf1 |
T |
C |
16: 13,959,776 (GRCm39) |
E694G |
probably damaging |
Het |
| Nup37 |
A |
C |
10: 87,994,791 (GRCm39) |
K118T |
probably benign |
Het |
| Or10al7 |
A |
G |
17: 38,366,481 (GRCm39) |
M1T |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,586 (GRCm39) |
E291G |
probably damaging |
Het |
| P3h1 |
A |
G |
4: 119,095,062 (GRCm39) |
D273G |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,311,843 (GRCm39) |
D178G |
probably benign |
Het |
| Phyhipl |
T |
C |
10: 70,406,660 (GRCm39) |
K53R |
probably damaging |
Het |
| Pkp3 |
T |
G |
7: 140,669,249 (GRCm39) |
L697R |
probably damaging |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,866 (GRCm39) |
V429A |
probably benign |
Het |
| Rgl2 |
A |
G |
17: 34,152,098 (GRCm39) |
N295S |
probably damaging |
Het |
| Spag5 |
A |
T |
11: 78,206,459 (GRCm39) |
D817V |
possibly damaging |
Het |
| Tas2r117 |
C |
A |
6: 132,780,558 (GRCm39) |
T232K |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Timd4 |
T |
A |
11: 46,710,841 (GRCm39) |
S248T |
possibly damaging |
Het |
| Tmem207 |
A |
T |
16: 26,335,490 (GRCm39) |
N82K |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,538,557 (GRCm39) |
T34714S |
possibly damaging |
Het |
| Vmn1r194 |
G |
A |
13: 22,428,706 (GRCm39) |
V108I |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,757,631 (GRCm39) |
S166R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,696 (GRCm39) |
F159S |
probably damaging |
Het |
| Wdr72 |
A |
T |
9: 74,117,505 (GRCm39) |
Q739L |
probably benign |
Het |
|
| Other mutations in Grhl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00766:Grhl2
|
APN |
15 |
37,336,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Grhl2
|
APN |
15 |
37,338,018 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02307:Grhl2
|
APN |
15 |
37,288,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02375:Grhl2
|
APN |
15 |
37,291,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Grhl2
|
APN |
15 |
37,310,009 (GRCm39) |
splice site |
probably benign |
|
|
clayton
|
UTSW |
15 |
37,291,920 (GRCm39) |
splice site |
probably null |
|
|
R0462:Grhl2
|
UTSW |
15 |
37,344,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1421:Grhl2
|
UTSW |
15 |
37,309,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1548:Grhl2
|
UTSW |
15 |
37,336,567 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1912:Grhl2
|
UTSW |
15 |
37,358,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1960:Grhl2
|
UTSW |
15 |
37,336,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Grhl2
|
UTSW |
15 |
37,336,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3112:Grhl2
|
UTSW |
15 |
37,336,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4261:Grhl2
|
UTSW |
15 |
37,361,067 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4830:Grhl2
|
UTSW |
15 |
37,335,903 (GRCm39) |
splice site |
probably null |
|
|
R4910:Grhl2
|
UTSW |
15 |
37,291,920 (GRCm39) |
splice site |
probably null |
|
|
R4929:Grhl2
|
UTSW |
15 |
37,361,046 (GRCm39) |
missense |
probably benign |
|
|
R4952:Grhl2
|
UTSW |
15 |
37,287,493 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5742:Grhl2
|
UTSW |
15 |
37,328,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Grhl2
|
UTSW |
15 |
37,279,826 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7208:Grhl2
|
UTSW |
15 |
37,335,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7466:Grhl2
|
UTSW |
15 |
37,291,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Grhl2
|
UTSW |
15 |
37,336,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7538:Grhl2
|
UTSW |
15 |
37,328,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7637:Grhl2
|
UTSW |
15 |
37,328,574 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8027:Grhl2
|
UTSW |
15 |
37,279,727 (GRCm39) |
missense |
probably benign |
|
|
R8047:Grhl2
|
UTSW |
15 |
37,336,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8555:Grhl2
|
UTSW |
15 |
37,233,507 (GRCm39) |
intron |
probably benign |
|
|
R8818:Grhl2
|
UTSW |
15 |
37,270,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Grhl2
|
UTSW |
15 |
37,270,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9339:Grhl2
|
UTSW |
15 |
37,344,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Grhl2
|
UTSW |
15 |
37,333,531 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation