Incidental Mutation 'IGL00472:Grhl1'
| ID |
11136 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00472
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24622282-24667390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 24662169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 536
(R536L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082689
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020985]
[ENSMUST00000085553]
|
| AlphaFold |
Q921D9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020985
AA Change: R454L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: R454L
| 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 damaging
Transcript: ENSMUST00000085553
AA Change: R536L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: R536L
| 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 |
|
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
A |
G |
3: 37,490,793 (GRCm39) |
H446R |
probably benign |
Het |
| Alpk3 |
C |
T |
7: 80,745,401 (GRCm39) |
|
probably benign |
Het |
| Atp8b1 |
T |
A |
18: 64,697,501 (GRCm39) |
I448F |
probably benign |
Het |
| C2cd2l |
A |
G |
9: 44,228,400 (GRCm39) |
L156P |
probably damaging |
Het |
| Cbll1 |
G |
A |
12: 31,537,832 (GRCm39) |
P308S |
probably damaging |
Het |
| Ccl3 |
C |
T |
11: 83,539,467 (GRCm39) |
S39N |
possibly damaging |
Het |
| Cnih4 |
G |
T |
1: 180,989,659 (GRCm39) |
G30C |
probably damaging |
Het |
| Endod1 |
A |
T |
9: 14,268,049 (GRCm39) |
F479I |
possibly damaging |
Het |
| Gm572 |
T |
G |
4: 148,751,849 (GRCm39) |
V238G |
possibly damaging |
Het |
| Itgae |
A |
G |
11: 73,004,520 (GRCm39) |
K269R |
probably benign |
Het |
| Nin |
C |
A |
12: 70,076,862 (GRCm39) |
M1064I |
probably damaging |
Het |
| Pnkd |
A |
G |
1: 74,325,081 (GRCm39) |
K50E |
probably damaging |
Het |
| Rpl39l |
A |
G |
16: 9,992,258 (GRCm39) |
M29V |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,931,213 (GRCm39) |
A388V |
probably benign |
Het |
| Tex21 |
A |
T |
12: 76,253,571 (GRCm39) |
N447K |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,942,457 (GRCm39) |
Y544C |
possibly damaging |
Het |
|
| Other mutations in Grhl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation