Incidental Mutation 'R4682:Grhl1'
| ID |
397269 |
| 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 |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
24622282-24667390 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 24658432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 359
(V359G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020985
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020985]
[ENSMUST00000085553]
|
| AlphaFold |
Q921D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020985
AA Change: V359G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020985
Gene: ENSMUSG00000020656
AA Change: V359G
| 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: V441G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082689
Gene: ENSMUSG00000020656
AA Change: V441G
| 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 |
0.0755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mad1l1 |
A |
T |
5: 140,286,007 (GRCm39) |
M296K |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
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 |
|
|
R4227:Grhl1
|
UTSW |
12 |
24,661,850 (GRCm39) |
missense |
probably benign |
|
|
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'- GAGAACCCTGAGTTTCTGCTGC -3'
(R):5'- CACTGCGGTCTGACGTTATG -3'
Sequencing Primer
(F):5'- TCACAGAACTGCAGGCCTGTG -3'
(R):5'- TTTTGCCAAGCCCAGCAG -3'
|
| Posted On |
2016-07-05 |
Incidental Mutation