Incidental Mutation 'R8211:Grhl1'
ID |
636182 |
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 |
MMRRC Submission |
067634-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8211 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24622282-24667390 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 24636151 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020985]
[ENSMUST00000085553]
|
AlphaFold |
Q921D9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020985
|
SMART Domains |
Protein: ENSMUSP00000020985 Gene: ENSMUSG00000020656
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
|
SMART Domains |
Protein: ENSMUSP00000082689 Gene: ENSMUSG00000020656
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 |
|
Meta Mutation Damage Score |
0.9492 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (43/43) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
A |
G |
17: 47,201,309 (GRCm39) |
|
probably benign |
Het |
Adamtsl3 |
T |
C |
7: 82,172,371 (GRCm39) |
S445P |
probably damaging |
Het |
Afp |
T |
C |
5: 90,649,345 (GRCm39) |
I304T |
possibly damaging |
Het |
Alk |
G |
A |
17: 72,176,702 (GRCm39) |
A1534V |
probably benign |
Het |
Ank3 |
C |
T |
10: 69,703,228 (GRCm39) |
P287L |
unknown |
Het |
Appl1 |
T |
C |
14: 26,667,555 (GRCm39) |
I367V |
probably benign |
Het |
Arpin |
T |
A |
7: 79,584,992 (GRCm39) |
M1L |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
B430203G13Rik |
A |
T |
12: 17,974,540 (GRCm39) |
H82L |
noncoding transcript |
Het |
Bcl11a |
T |
A |
11: 24,028,394 (GRCm39) |
S2T |
probably damaging |
Het |
Cfap299 |
A |
G |
5: 98,477,294 (GRCm39) |
I28V |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,213,220 (GRCm39) |
M1605L |
unknown |
Het |
Chga |
C |
A |
12: 102,527,678 (GRCm39) |
Q111K |
possibly damaging |
Het |
Drc7 |
A |
G |
8: 95,782,707 (GRCm39) |
E24G |
unknown |
Het |
Dst |
T |
C |
1: 34,251,532 (GRCm39) |
L2195P |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,392,402 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,203,035 (GRCm39) |
L13P |
possibly damaging |
Het |
Ikbke |
A |
G |
1: 131,199,515 (GRCm39) |
I326T |
probably damaging |
Het |
Krt26 |
C |
T |
11: 99,226,110 (GRCm39) |
D195N |
probably damaging |
Het |
Lamc2 |
A |
T |
1: 153,042,024 (GRCm39) |
C37S |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 103,006,408 (GRCm39) |
L1239P |
probably damaging |
Het |
Mrps5 |
T |
A |
2: 127,445,644 (GRCm39) |
H390Q |
probably benign |
Het |
Nphp3 |
T |
A |
9: 103,909,096 (GRCm39) |
C769S |
possibly damaging |
Het |
Obscn |
A |
G |
11: 59,006,620 (GRCm39) |
S1181P |
probably damaging |
Het |
Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
Pabpc6 |
G |
T |
17: 9,888,386 (GRCm39) |
A55E |
probably damaging |
Het |
Pcdha9 |
A |
T |
18: 37,131,912 (GRCm39) |
E327V |
possibly damaging |
Het |
Pds5b |
A |
G |
5: 150,652,407 (GRCm39) |
T225A |
possibly damaging |
Het |
Pi4ka |
A |
C |
16: 17,100,769 (GRCm39) |
I1807S |
|
Het |
Pick1 |
T |
A |
15: 79,132,930 (GRCm39) |
I330N |
probably damaging |
Het |
Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
Rubcn |
A |
C |
16: 32,656,913 (GRCm39) |
C502W |
possibly damaging |
Het |
Slc26a10 |
G |
A |
10: 127,009,834 (GRCm39) |
R571C |
probably benign |
Het |
Slc44a2 |
A |
T |
9: 21,259,434 (GRCm39) |
N587Y |
probably damaging |
Het |
Slfn2 |
T |
G |
11: 82,960,585 (GRCm39) |
V188G |
possibly damaging |
Het |
Smok2b |
T |
C |
17: 13,454,680 (GRCm39) |
V280A |
probably benign |
Het |
Snx19 |
A |
G |
9: 30,348,761 (GRCm39) |
E798G |
probably benign |
Het |
Sspo |
T |
C |
6: 48,469,543 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
T |
C |
5: 87,390,235 (GRCm39) |
I404V |
probably benign |
Het |
Vmn1r160 |
T |
C |
7: 22,570,751 (GRCm39) |
F35L |
possibly damaging |
Het |
Vmn1r193 |
A |
T |
13: 22,403,286 (GRCm39) |
Y235* |
probably null |
Het |
Vmn2r53 |
T |
C |
7: 12,315,843 (GRCm39) |
I659V |
probably benign |
Het |
Vmn2r91 |
A |
G |
17: 18,326,762 (GRCm39) |
D349G |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
Zfp938 |
T |
C |
10: 82,062,419 (GRCm39) |
N67S |
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 |
R3864:Grhl1
|
UTSW |
12 |
24,665,929 (GRCm39) |
makesense |
probably null |
|
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 |
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'- TATTTGTAGACCTGCCACGAGC -3'
(R):5'- TGCTACTGTGCAGATGAGGAAG -3'
Sequencing Primer
(F):5'- TGCCACGAGCTCACCCTG -3'
(R):5'- TCAGCCTGGAGGGTTCACATG -3'
|
Posted On |
2020-07-13 |