Incidental Mutation 'R5100:Grhl3'
ID |
388210 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grhl3
|
Ensembl Gene |
ENSMUSG00000037188 |
Gene Name |
grainyhead like transcription factor 3 |
Synonyms |
ct, Som, Get1 |
MMRRC Submission |
042689-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.945)
|
Stock # |
R5100 (G1)
|
Quality Score |
150 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
135269199-135300941 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 135269986 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 599
(I599T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063707]
[ENSMUST00000105855]
|
AlphaFold |
Q5FWH3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063707
|
SMART Domains |
Protein: ENSMUSP00000067647 Gene: ENSMUSG00000028801
Domain | Start | End | E-Value | Type |
Pfam:SHIPPO-rpt
|
194 |
224 |
1.8e-5 |
PFAM |
Pfam:SHIPPO-rpt
|
232 |
261 |
7.9e-6 |
PFAM |
Pfam:SHIPPO-rpt
|
273 |
312 |
1e-4 |
PFAM |
Pfam:SHIPPO-rpt
|
313 |
334 |
8.8e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105855
AA Change: I599T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000101481 Gene: ENSMUSG00000037188 AA Change: I599T
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
215 |
421 |
2.5e-81 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.4%
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
A |
T |
11: 72,057,477 (GRCm39) |
M774K |
probably damaging |
Het |
Adamts3 |
G |
A |
5: 89,856,502 (GRCm39) |
T357I |
probably damaging |
Het |
Ap3m2 |
T |
A |
8: 23,279,404 (GRCm39) |
M408L |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,833,149 (GRCm39) |
N1116K |
probably benign |
Het |
Arhgap31 |
A |
T |
16: 38,421,821 (GRCm39) |
I1415N |
probably damaging |
Het |
Arhgef17 |
A |
T |
7: 100,530,963 (GRCm39) |
D1374E |
possibly damaging |
Het |
Asxl1 |
C |
G |
2: 153,239,851 (GRCm39) |
N546K |
probably damaging |
Het |
Cobll1 |
T |
A |
2: 64,956,245 (GRCm39) |
T337S |
probably benign |
Het |
Depdc1a |
A |
T |
3: 159,221,157 (GRCm39) |
I163L |
probably benign |
Het |
Flrt3 |
T |
A |
2: 140,513,304 (GRCm39) |
|
probably null |
Het |
Foxn4 |
A |
T |
5: 114,394,820 (GRCm39) |
L369H |
possibly damaging |
Het |
Gm11992 |
T |
C |
11: 9,011,290 (GRCm39) |
S244P |
probably damaging |
Het |
Gm14412 |
C |
T |
2: 177,006,908 (GRCm39) |
C329Y |
probably damaging |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gm5113 |
G |
A |
7: 29,878,076 (GRCm39) |
V55M |
probably damaging |
Het |
H2-Q6 |
G |
C |
17: 35,644,296 (GRCm39) |
E93Q |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,156,843 (GRCm39) |
T570A |
probably damaging |
Het |
Hspb8 |
T |
C |
5: 116,553,468 (GRCm39) |
I143M |
probably damaging |
Het |
Kif15 |
A |
G |
9: 122,821,059 (GRCm39) |
T655A |
probably damaging |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Lrit1 |
T |
A |
14: 36,784,171 (GRCm39) |
C500S |
possibly damaging |
Het |
Macf1 |
A |
C |
4: 123,368,261 (GRCm39) |
C602G |
probably benign |
Het |
Mesd |
C |
T |
7: 83,546,977 (GRCm39) |
R147C |
probably damaging |
Het |
Mfge8 |
A |
T |
7: 78,793,048 (GRCm39) |
D139E |
probably benign |
Het |
Ncoa3 |
G |
A |
2: 165,892,017 (GRCm39) |
R131Q |
probably damaging |
Het |
Ncoa5 |
A |
G |
2: 164,851,309 (GRCm39) |
I188T |
probably damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,897 (GRCm39) |
H120R |
probably benign |
Het |
Otos |
T |
A |
1: 92,572,107 (GRCm39) |
H73L |
probably damaging |
Het |
Pcsk5 |
C |
T |
19: 17,492,499 (GRCm39) |
|
probably null |
Het |
Phc3 |
T |
C |
3: 30,976,348 (GRCm39) |
E740G |
possibly damaging |
Het |
Pla2g7 |
T |
C |
17: 43,922,267 (GRCm39) |
L382P |
probably damaging |
Het |
Plcd3 |
C |
A |
11: 102,969,175 (GRCm39) |
R264L |
probably benign |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Ptchd4 |
A |
T |
17: 42,814,567 (GRCm39) |
I823F |
possibly damaging |
Het |
Scn9a |
T |
C |
2: 66,364,463 (GRCm39) |
R828G |
probably damaging |
Het |
Spred2 |
T |
A |
11: 19,971,291 (GRCm39) |
C386* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,221,805 (GRCm39) |
L165* |
probably null |
Het |
Tgm2 |
A |
T |
2: 157,969,084 (GRCm39) |
S430R |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,929,902 (GRCm39) |
I2879F |
probably damaging |
Het |
Trpm3 |
T |
G |
19: 22,896,130 (GRCm39) |
V977G |
probably damaging |
Het |
Wnt5b |
A |
C |
6: 119,417,449 (GRCm39) |
S139A |
probably benign |
Het |
Zfp820 |
C |
A |
17: 22,040,054 (GRCm39) |
V52L |
possibly damaging |
Het |
Zfyve26 |
T |
A |
12: 79,326,832 (GRCm39) |
R764* |
probably null |
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 |
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'- GAAGCTCTGGAGTGAGTTCGAG -3'
(R):5'- GCCTGTAGCATTGCTATCAAGC -3'
Sequencing Primer
(F):5'- GGGACATTTAGATCCTGGAACCTTC -3'
(R):5'- CTTGTTGCTCAGAGGGTCATGAC -3'
|
Posted On |
2016-06-06 |