Incidental Mutation 'R2910:Grhl3'
| ID |
261181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grhl3
|
| Ensembl Gene |
ENSMUSG00000037188 |
| Gene Name |
grainyhead like transcription factor 3 |
| Synonyms |
ct, Som, Get1 |
| MMRRC Submission |
040497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R2910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135286457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 75
(I75V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105855]
|
| AlphaFold |
Q5FWH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105855
AA Change: I75V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: I75V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
| Meta Mutation Damage Score |
0.0655 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,777,902 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,705,238 (GRCm39) |
A1524V |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,586 (GRCm39) |
N121D |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,959 (GRCm39) |
S1170P |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,355,746 (GRCm39) |
S1322F |
possibly damaging |
Het |
| Car15 |
G |
A |
16: 17,656,006 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,086 (GRCm39) |
I633V |
possibly damaging |
Het |
| Cog8 |
A |
T |
8: 107,780,853 (GRCm39) |
V135E |
probably benign |
Het |
| Cts6 |
A |
G |
13: 61,344,215 (GRCm39) |
V279A |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,182,910 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,615,178 (GRCm39) |
D336E |
probably damaging |
Het |
| F11 |
C |
G |
8: 45,694,486 (GRCm39) |
*625S |
probably null |
Het |
| F5 |
A |
G |
1: 164,032,389 (GRCm39) |
M1779V |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,520,935 (GRCm39) |
D296E |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,416,430 (GRCm39) |
V275M |
probably benign |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Iqcm |
A |
T |
8: 76,441,404 (GRCm39) |
I226F |
probably benign |
Het |
| Kcnq1 |
T |
G |
7: 142,979,699 (GRCm39) |
L615R |
probably damaging |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,361,378 (GRCm39) |
T1563I |
probably damaging |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,244,695 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,394,268 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,957 (GRCm39) |
P941T |
probably damaging |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,289,067 (GRCm39) |
E60G |
probably benign |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Spata31 |
T |
G |
13: 65,068,250 (GRCm39) |
S133A |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tfpi |
A |
C |
2: 84,274,437 (GRCm39) |
V184G |
possibly damaging |
Het |
| Tmeff1 |
C |
A |
4: 48,614,961 (GRCm39) |
N139K |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,424 (GRCm39) |
D589G |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,631,895 (GRCm39) |
A16S |
probably benign |
Het |
| Vmn2r106 |
A |
C |
17: 20,498,946 (GRCm39) |
L322V |
probably damaging |
Het |
| Vmn2r69 |
G |
T |
7: 85,055,918 (GRCm39) |
A740D |
probably damaging |
Het |
|
| Other mutations in Grhl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02638:Grhl3
|
APN |
4 |
135,284,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02868:Grhl3
|
APN |
4 |
135,281,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Bite-size
|
UTSW |
4 |
135,284,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
hammerkop
|
UTSW |
4 |
135,273,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hoopoe
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
Tropicbird
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R0121:Grhl3
|
UTSW |
4 |
135,279,860 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0180:Grhl3
|
UTSW |
4 |
135,281,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0627:Grhl3
|
UTSW |
4 |
135,279,992 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0727:Grhl3
|
UTSW |
4 |
135,273,565 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1248:Grhl3
|
UTSW |
4 |
135,288,617 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1664:Grhl3
|
UTSW |
4 |
135,279,861 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2911:Grhl3
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3773:Grhl3
|
UTSW |
4 |
135,283,158 (GRCm39) |
nonsense |
probably null |
|
|
R4033:Grhl3
|
UTSW |
4 |
135,300,735 (GRCm39) |
start codon destroyed |
probably benign |
|
|
R4521:Grhl3
|
UTSW |
4 |
135,273,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:Grhl3
|
UTSW |
4 |
135,288,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Grhl3
|
UTSW |
4 |
135,276,547 (GRCm39) |
splice site |
probably null |
|
|
R4697:Grhl3
|
UTSW |
4 |
135,275,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R4920:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R4961:Grhl3
|
UTSW |
4 |
135,279,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5100:Grhl3
|
UTSW |
4 |
135,269,986 (GRCm39) |
missense |
probably benign |
|
|
R5180:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R5181:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R5325:Grhl3
|
UTSW |
4 |
135,286,415 (GRCm39) |
nonsense |
probably null |
|
|
R6429:Grhl3
|
UTSW |
4 |
135,284,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6459:Grhl3
|
UTSW |
4 |
135,284,744 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7047:Grhl3
|
UTSW |
4 |
135,276,551 (GRCm39) |
splice site |
probably null |
|
|
R7073:Grhl3
|
UTSW |
4 |
135,300,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7345:Grhl3
|
UTSW |
4 |
135,273,557 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Grhl3
|
UTSW |
4 |
135,286,416 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7829:Grhl3
|
UTSW |
4 |
135,288,532 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8023:Grhl3
|
UTSW |
4 |
135,277,640 (GRCm39) |
missense |
probably benign |
|
|
R8472:Grhl3
|
UTSW |
4 |
135,284,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8499:Grhl3
|
UTSW |
4 |
135,276,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8766:Grhl3
|
UTSW |
4 |
135,300,724 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8836:Grhl3
|
UTSW |
4 |
135,288,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Grhl3
|
UTSW |
4 |
135,283,412 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Grhl3
|
UTSW |
4 |
135,279,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGGCTGGGTTGTATATACTG -3'
(R):5'- GCTCTCAACTAGAAAGCACAGTG -3'
Sequencing Primer
(F):5'- TATAGAAGTGCTCAGAAGTACTGTG -3'
(R):5'- ACAGTGAGGTGCTGTCCAC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation