Incidental Mutation 'R4227:Grhl1'
ID |
320100 |
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 |
041047-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4227 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24622282-24667390 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24661850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 510
(T510A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000082689
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020985]
[ENSMUST00000085553]
|
AlphaFold |
Q921D9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020985
AA Change: T428A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000020985 Gene: ENSMUSG00000020656 AA Change: T428A
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 benign
Transcript: ENSMUST00000085553
AA Change: T510A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000082689 Gene: ENSMUSG00000020656 AA Change: T510A
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
|
Meta Mutation Damage Score |
0.0703 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (56/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
Kcnn3 |
A |
C |
3: 89,428,482 (GRCm39) |
H236P |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
probably 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 |
|
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'- TTCTCCTACTGGGTGCTGAG -3'
(R):5'- GGATCTAACTGCAGCTTCCC -3'
Sequencing Primer
(F):5'- TAGGCTGCCACTCCTGAG -3'
(R):5'- CAGCTTCCCCTGCACGC -3'
|
Posted On |
2015-06-12 |