Incidental Mutation 'R3864:Grhl1'
ID |
276465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grhl1
|
Ensembl Gene |
ENSMUSG00000020656 |
Gene Name |
grainyhead like transcription factor 1 |
Synonyms |
p70 MGR, Tcfcp2l2, p61 MGR, LBP-32 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3864 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
24622282-24667390 bp(+) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 24665929 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Glutamine
at position 619
(*619Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020985]
[ENSMUST00000085553]
|
AlphaFold |
Q921D9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020985
AA Change: *537Q
|
SMART Domains |
Protein: ENSMUSP00000020985 Gene: ENSMUSG00000020656 AA Change: *537Q
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
133 |
362 |
1.8e-87 |
PFAM |
low complexity region
|
406 |
421 |
N/A |
INTRINSIC |
low complexity region
|
488 |
500 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000085553
AA Change: *619Q
|
SMART Domains |
Protein: ENSMUSP00000082689 Gene: ENSMUSG00000020656 AA Change: *619Q
Domain | Start | End | E-Value | Type |
Pfam:CP2
|
228 |
442 |
1.9e-82 |
PFAM |
low complexity region
|
488 |
503 |
N/A |
INTRINSIC |
low complexity region
|
570 |
582 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223442
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
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 can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcription factor during development. [provided by RefSeq, Jun 2009] PHENOTYPE: Mice homozygous for a null allele display alopecia or sparse hair, abnormal hair follicle root sheaths, thickening of the cornified layer on the paws, and postnatal growth retardation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
G |
A |
11: 116,487,642 (GRCm39) |
G114S |
probably damaging |
Het |
Abcc4 |
G |
A |
14: 118,853,827 (GRCm39) |
A360V |
probably benign |
Het |
Catsper1 |
T |
C |
19: 5,386,204 (GRCm39) |
S146P |
possibly damaging |
Het |
Ccny |
A |
T |
18: 9,449,604 (GRCm39) |
L23Q |
probably damaging |
Het |
Chml |
A |
T |
1: 175,515,810 (GRCm39) |
V37D |
probably damaging |
Het |
Cspg4b |
A |
G |
13: 113,459,485 (GRCm39) |
T1339A |
possibly damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
Dhx40 |
A |
T |
11: 86,680,071 (GRCm39) |
V422E |
possibly damaging |
Het |
Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
Gm10309 |
A |
C |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
Greb1 |
G |
A |
12: 16,752,421 (GRCm39) |
R974W |
probably damaging |
Het |
Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
Lats1 |
T |
C |
10: 7,581,510 (GRCm39) |
V765A |
probably damaging |
Het |
Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
Mfn1 |
A |
G |
3: 32,617,241 (GRCm39) |
D41G |
possibly damaging |
Het |
Naa25 |
T |
A |
5: 121,547,260 (GRCm39) |
M132K |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
Scfd2 |
T |
G |
5: 74,558,381 (GRCm39) |
K499Q |
possibly damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,620,484 (GRCm39) |
D442G |
probably benign |
Het |
Wwc1 |
T |
A |
11: 35,801,143 (GRCm39) |
D98V |
probably damaging |
Het |
Zfp426 |
G |
A |
9: 20,381,382 (GRCm39) |
T521I |
possibly damaging |
Het |
|
Other mutations in Grhl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00472:Grhl1
|
APN |
12 |
24,662,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01104:Grhl1
|
APN |
12 |
24,634,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01335:Grhl1
|
APN |
12 |
24,658,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01660:Grhl1
|
APN |
12 |
24,658,577 (GRCm39) |
splice site |
probably null |
|
IGL01725:Grhl1
|
APN |
12 |
24,659,747 (GRCm39) |
splice site |
probably benign |
|
IGL02869:Grhl1
|
APN |
12 |
24,631,490 (GRCm39) |
missense |
probably damaging |
1.00 |
bandit
|
UTSW |
12 |
24,628,025 (GRCm39) |
missense |
probably benign |
0.31 |
cembalo
|
UTSW |
12 |
24,636,151 (GRCm39) |
critical splice donor site |
probably null |
|
gamba
|
UTSW |
12 |
24,662,244 (GRCm39) |
splice site |
probably benign |
|
Spinnet
|
UTSW |
12 |
24,634,945 (GRCm39) |
critical splice donor site |
probably null |
|
R0048:Grhl1
|
UTSW |
12 |
24,662,150 (GRCm39) |
splice site |
probably benign |
|
R0373:Grhl1
|
UTSW |
12 |
24,631,514 (GRCm39) |
missense |
probably benign |
0.00 |
R0432:Grhl1
|
UTSW |
12 |
24,632,918 (GRCm39) |
missense |
probably benign |
0.29 |
R0442:Grhl1
|
UTSW |
12 |
24,662,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R1531:Grhl1
|
UTSW |
12 |
24,632,962 (GRCm39) |
critical splice donor site |
probably null |
|
R1646:Grhl1
|
UTSW |
12 |
24,661,860 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1874:Grhl1
|
UTSW |
12 |
24,636,155 (GRCm39) |
splice site |
probably benign |
|
R1892:Grhl1
|
UTSW |
12 |
24,634,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1908:Grhl1
|
UTSW |
12 |
24,658,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R2051:Grhl1
|
UTSW |
12 |
24,636,151 (GRCm39) |
critical splice donor site |
probably null |
|
R2199:Grhl1
|
UTSW |
12 |
24,662,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R2233:Grhl1
|
UTSW |
12 |
24,658,510 (GRCm39) |
missense |
probably damaging |
0.98 |
R3803:Grhl1
|
UTSW |
12 |
24,634,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R4227:Grhl1
|
UTSW |
12 |
24,661,850 (GRCm39) |
missense |
probably benign |
|
R4682:Grhl1
|
UTSW |
12 |
24,658,432 (GRCm39) |
missense |
probably benign |
0.00 |
R4709:Grhl1
|
UTSW |
12 |
24,636,132 (GRCm39) |
missense |
possibly damaging |
0.57 |
R5096:Grhl1
|
UTSW |
12 |
24,653,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R5149:Grhl1
|
UTSW |
12 |
24,662,178 (GRCm39) |
small deletion |
probably benign |
|
R5580:Grhl1
|
UTSW |
12 |
24,659,739 (GRCm39) |
missense |
probably benign |
0.00 |
R6035:Grhl1
|
UTSW |
12 |
24,658,449 (GRCm39) |
missense |
probably benign |
0.00 |
R6035:Grhl1
|
UTSW |
12 |
24,658,449 (GRCm39) |
missense |
probably benign |
0.00 |
R6110:Grhl1
|
UTSW |
12 |
24,630,746 (GRCm39) |
splice site |
probably null |
|
R6351:Grhl1
|
UTSW |
12 |
24,634,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R7018:Grhl1
|
UTSW |
12 |
24,625,996 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8211:Grhl1
|
UTSW |
12 |
24,636,151 (GRCm39) |
critical splice donor site |
probably null |
|
R8723:Grhl1
|
UTSW |
12 |
24,662,244 (GRCm39) |
splice site |
probably benign |
|
R8898:Grhl1
|
UTSW |
12 |
24,634,945 (GRCm39) |
critical splice donor site |
probably null |
|
R9575:Grhl1
|
UTSW |
12 |
24,636,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAGCAAATCCAAGCCTAGC -3'
(R):5'- GGTACAAAGTTCTCATGCTTCG -3'
Sequencing Primer
(F):5'- TCCAAGCCTAGCTCCACAG -3'
(R):5'- AAAGTTCTCATGCTTCGCTTTCTAAG -3'
|
Posted On |
2015-04-06 |