Incidental Mutation 'R9466:Grhl3'
| ID |
715155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grhl3
|
| Ensembl Gene |
ENSMUSG00000037188 |
| Gene Name |
grainyhead like transcription factor 3 |
| Synonyms |
ct, Som, Get1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R9466 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135283412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 276
(S276T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105855]
|
| AlphaFold |
Q5FWH3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105855
AA Change: S276T
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000101481
Gene: ENSMUSG00000037188
AA Change: S276T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atp8b2 |
A |
T |
3: 89,851,484 (GRCm39) |
Y928N |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
| Brsk2 |
A |
T |
7: 141,536,800 (GRCm39) |
Y91F |
probably benign |
Het |
| C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
| Cdk5rap1 |
C |
A |
2: 154,192,756 (GRCm39) |
V414F |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
| Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
| Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
| Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
| Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
| Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
| Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
| Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
| Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
| Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
| Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
| Pgap3 |
C |
T |
11: 98,289,796 (GRCm39) |
R65Q |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
| Prkd2 |
A |
T |
7: 16,589,696 (GRCm39) |
H466L |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
| Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
| Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
| Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
| Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
| Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
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 |
|
R2910:Grhl3
|
UTSW |
4 |
135,286,457 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
Z1177:Grhl3
|
UTSW |
4 |
135,279,997 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACAAGGTCATGTCACCCTGGTC -3'
(R):5'- TGACTTAGGTCACCCAGCAAG -3'
Sequencing Primer
(F):5'- TCATGTCACCCTGGTCTGGAG -3'
(R):5'- TGCTCCCAGGACACCTC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation