Incidental Mutation 'R4919:Grhl3'
ID |
430146 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grhl3
|
Ensembl Gene |
ENSMUSG00000037188 |
Gene Name |
grainyhead like transcription factor 3 |
Synonyms |
ct, Som, Get1 |
MMRRC Submission |
042521-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.952)
|
Stock # |
R4919 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 135286415 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 89
(K89*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105855]
|
AlphaFold |
Q5FWH3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000105855
AA Change: K89*
|
SMART Domains |
Protein: ENSMUSP00000101481 Gene: ENSMUSG00000037188 AA Change: K89*
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
100% (46/46) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
3425401B19Rik |
T |
C |
14: 32,385,245 (GRCm39) |
D240G |
possibly damaging |
Het |
Aplf |
T |
C |
6: 87,607,046 (GRCm39) |
D456G |
possibly damaging |
Het |
Brd8 |
A |
G |
18: 34,740,489 (GRCm39) |
F445S |
probably damaging |
Het |
Coro1b |
C |
T |
19: 4,200,709 (GRCm39) |
R214C |
possibly damaging |
Het |
Dop1a |
T |
A |
9: 86,402,109 (GRCm39) |
I1101K |
possibly damaging |
Het |
Enpp1 |
A |
G |
10: 24,523,983 (GRCm39) |
V728A |
probably benign |
Het |
Gosr1 |
T |
A |
11: 76,625,392 (GRCm39) |
|
probably null |
Het |
Ino80 |
T |
A |
2: 119,273,073 (GRCm39) |
T468S |
probably damaging |
Het |
Kcnab2 |
T |
C |
4: 152,486,397 (GRCm39) |
K134E |
probably damaging |
Het |
Klhl17 |
C |
T |
4: 156,318,344 (GRCm39) |
V93I |
possibly damaging |
Het |
Kmt2c |
G |
T |
5: 25,519,393 (GRCm39) |
P2239Q |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,799,173 (GRCm39) |
F161L |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,537,246 (GRCm39) |
I14F |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,813,974 (GRCm39) |
|
probably null |
Het |
Musk |
A |
C |
4: 58,366,899 (GRCm39) |
I506L |
probably damaging |
Het |
Mydgf |
C |
T |
17: 56,483,953 (GRCm39) |
V158I |
probably damaging |
Het |
Ncapd3 |
C |
T |
9: 26,963,071 (GRCm39) |
P459S |
possibly damaging |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or13a19 |
A |
T |
7: 139,903,427 (GRCm39) |
K272* |
probably null |
Het |
Or2w6 |
A |
T |
13: 21,842,794 (GRCm39) |
I233N |
possibly damaging |
Het |
Or5d45 |
A |
G |
2: 88,153,992 (GRCm39) |
V19A |
probably benign |
Het |
Pnmt |
T |
A |
11: 98,277,477 (GRCm39) |
L7Q |
probably benign |
Het |
Rerg |
T |
C |
6: 137,033,142 (GRCm39) |
I197V |
probably damaging |
Het |
Sgo2a |
T |
C |
1: 58,037,293 (GRCm39) |
S13P |
probably damaging |
Het |
Sim2 |
T |
C |
16: 93,910,194 (GRCm39) |
S199P |
probably benign |
Het |
Smc1b |
T |
C |
15: 85,001,305 (GRCm39) |
|
probably benign |
Het |
Spata7 |
T |
C |
12: 98,614,712 (GRCm39) |
S115P |
possibly damaging |
Het |
Ssh2 |
A |
G |
11: 77,316,146 (GRCm39) |
T250A |
possibly damaging |
Het |
Sv2a |
A |
G |
3: 96,098,071 (GRCm39) |
N558S |
probably benign |
Het |
Tia1 |
T |
A |
6: 86,401,305 (GRCm39) |
|
probably benign |
Het |
Tmem39a |
A |
G |
16: 38,405,561 (GRCm39) |
Y46C |
probably benign |
Het |
Vmn2r2 |
A |
G |
3: 64,024,578 (GRCm39) |
S668P |
possibly damaging |
Het |
Vwa1 |
C |
A |
4: 155,855,057 (GRCm39) |
A326S |
probably benign |
Het |
Xpo6 |
A |
G |
7: 125,752,115 (GRCm39) |
M327T |
probably benign |
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 |
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'- TGGCTGTTCTGAAACCTCCC -3'
(R):5'- TGAAACACTCACTTTTCTCCCAAG -3'
Sequencing Primer
(F):5'- GAAACCTCCCCATTGCACCTATTG -3'
(R):5'- TTCTCCCAAGCGTTCCAGGG -3'
|
Posted On |
2016-09-07 |