Incidental Mutation 'R6459:Grhl3'
ID |
517506 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grhl3
|
Ensembl Gene |
ENSMUSG00000037188 |
Gene Name |
grainyhead like transcription factor 3 |
Synonyms |
ct, Som, Get1 |
MMRRC Submission |
044594-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R6459 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135284744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 116
(N116S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105855]
|
AlphaFold |
Q5FWH3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105855
AA Change: N116S
PolyPhen 2
Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101481 Gene: ENSMUSG00000037188 AA Change: N116S
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
Meta Mutation Damage Score |
0.1081 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
Validation Efficiency |
98% (52/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abr |
C |
A |
11: 76,315,815 (GRCm39) |
R583L |
probably damaging |
Het |
Acss1 |
A |
G |
2: 150,509,840 (GRCm39) |
I93T |
probably damaging |
Het |
Ank3 |
C |
T |
10: 69,827,577 (GRCm39) |
|
probably benign |
Het |
Aoah |
A |
G |
13: 21,184,112 (GRCm39) |
Y392C |
probably damaging |
Het |
Atl3 |
A |
T |
19: 7,498,163 (GRCm39) |
E186D |
probably benign |
Het |
Atp4a |
A |
G |
7: 30,411,887 (GRCm39) |
K41E |
probably benign |
Het |
Atp9a |
G |
A |
2: 168,509,933 (GRCm39) |
P500L |
probably damaging |
Het |
Ccdc88b |
A |
T |
19: 6,832,246 (GRCm39) |
V363D |
possibly damaging |
Het |
Cftr |
T |
C |
6: 18,258,235 (GRCm39) |
V532A |
probably damaging |
Het |
Cldn13 |
T |
C |
5: 134,943,769 (GRCm39) |
T139A |
possibly damaging |
Het |
Cnksr3 |
T |
C |
10: 7,076,820 (GRCm39) |
Y124C |
probably benign |
Het |
Cyb5r2 |
T |
C |
7: 107,352,462 (GRCm39) |
K161E |
possibly damaging |
Het |
Epop |
T |
C |
11: 97,519,333 (GRCm39) |
S259G |
possibly damaging |
Het |
Fhl2 |
G |
A |
1: 43,162,813 (GRCm39) |
T234I |
possibly damaging |
Het |
Fnip2 |
T |
C |
3: 79,388,941 (GRCm39) |
T567A |
possibly damaging |
Het |
Frmd4b |
A |
G |
6: 97,464,601 (GRCm39) |
C39R |
probably damaging |
Het |
Igkv14-111 |
A |
T |
6: 68,233,725 (GRCm39) |
R75S |
probably benign |
Het |
Il16 |
A |
T |
7: 83,371,529 (GRCm39) |
D92E |
probably damaging |
Het |
Il16 |
C |
A |
7: 83,371,536 (GRCm39) |
G90V |
probably damaging |
Het |
Ipo11 |
T |
C |
13: 107,002,277 (GRCm39) |
|
probably null |
Het |
Kng2 |
A |
G |
16: 22,830,865 (GRCm39) |
I148T |
probably damaging |
Het |
Lrrc41 |
T |
C |
4: 115,945,977 (GRCm39) |
S231P |
possibly damaging |
Het |
Maneal |
C |
T |
4: 124,750,635 (GRCm39) |
V374I |
possibly damaging |
Het |
Mgat4c |
T |
A |
10: 102,220,988 (GRCm39) |
L90Q |
probably damaging |
Het |
Mrps28 |
A |
G |
3: 8,965,040 (GRCm39) |
|
probably null |
Het |
Ncapd3 |
A |
G |
9: 26,963,051 (GRCm39) |
D452G |
probably benign |
Het |
Nefh |
T |
C |
11: 4,889,551 (GRCm39) |
T1023A |
unknown |
Het |
Nipa1 |
A |
G |
7: 55,629,354 (GRCm39) |
V253A |
probably benign |
Het |
Or5ac17 |
C |
T |
16: 59,036,383 (GRCm39) |
V198M |
probably benign |
Het |
Or5b97 |
G |
T |
19: 12,878,369 (GRCm39) |
F258L |
possibly damaging |
Het |
Or5m11 |
G |
T |
2: 85,781,862 (GRCm39) |
G152C |
probably damaging |
Het |
Or8d23 |
A |
G |
9: 38,841,961 (GRCm39) |
S165G |
probably benign |
Het |
Or8k41 |
T |
A |
2: 86,313,573 (GRCm39) |
H171L |
probably benign |
Het |
Pak1 |
A |
G |
7: 97,557,088 (GRCm39) |
D495G |
probably benign |
Het |
Pcm1 |
G |
A |
8: 41,714,073 (GRCm39) |
R213H |
probably damaging |
Het |
Prg4 |
T |
C |
1: 150,330,052 (GRCm39) |
|
probably benign |
Het |
Proser1 |
C |
T |
3: 53,385,750 (GRCm39) |
T544M |
possibly damaging |
Het |
Rftn1 |
T |
C |
17: 50,354,334 (GRCm39) |
M343V |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,715,079 (GRCm39) |
I4656V |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,007 (GRCm39) |
N239Y |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,313,512 (GRCm39) |
M1949I |
probably benign |
Het |
Sipa1l2 |
A |
G |
8: 126,171,223 (GRCm39) |
|
probably null |
Het |
Slc10a2 |
A |
C |
8: 5,148,581 (GRCm39) |
|
probably null |
Het |
Slc25a16 |
C |
T |
10: 62,773,256 (GRCm39) |
Q164* |
probably null |
Het |
Specc1l |
T |
C |
10: 75,082,001 (GRCm39) |
Y483H |
probably damaging |
Het |
Ston1 |
T |
C |
17: 88,943,896 (GRCm39) |
V434A |
probably benign |
Het |
Tarbp2 |
A |
G |
15: 102,426,914 (GRCm39) |
|
probably benign |
Het |
Trappc8 |
C |
T |
18: 20,969,925 (GRCm39) |
V1022M |
probably benign |
Het |
Tsen54 |
T |
C |
11: 115,712,506 (GRCm39) |
V269A |
probably damaging |
Het |
Vps13a |
A |
T |
19: 16,641,382 (GRCm39) |
M78K |
possibly damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,413,429 (GRCm39) |
T215A |
probably damaging |
Het |
Zc3h7a |
A |
G |
16: 10,971,025 (GRCm39) |
Y335H |
probably damaging |
Het |
Zfp994 |
T |
A |
17: 22,419,527 (GRCm39) |
Q474L |
possibly 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 |
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'- TGGAACCCCATGAATGCTC -3'
(R):5'- GTCTAGCTTCTCACATGCCAG -3'
Sequencing Primer
(F):5'- GAGGGAGCCATTGTCATATATGTCAC -3'
(R):5'- TTCTCACATGCCAGGAGGG -3'
|
Posted On |
2018-05-21 |