Incidental Mutation 'R3741:Hhipl1'
| ID |
270378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hhipl1
|
| Ensembl Gene |
ENSMUSG00000021260 |
| Gene Name |
hedgehog interacting protein-like 1 |
| Synonyms |
1600002O04Rik |
| MMRRC Submission |
040727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3741 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
108272100-108294559 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108284976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 443
(Y443C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021685]
|
| AlphaFold |
Q14DK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021685
AA Change: Y443C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021685
Gene: ENSMUSG00000021260
AA Change: Y443C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
Pfam:Folate_rec
|
28 |
189 |
2.4e-21 |
PFAM |
|
Pfam:GSDH
|
199 |
532 |
3e-39 |
PFAM |
|
low complexity region
|
619 |
670 |
N/A |
INTRINSIC |
|
SR
|
682 |
785 |
2.01e-47 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181875
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223395
|
| Meta Mutation Damage Score |
0.9362 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspm |
T |
C |
1: 139,406,357 (GRCm39) |
V1748A |
possibly damaging |
Het |
| Atp10b |
A |
T |
11: 43,126,489 (GRCm39) |
S1082C |
probably damaging |
Het |
| Atp8b2 |
C |
G |
3: 89,853,338 (GRCm39) |
A726P |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,606 (GRCm39) |
M1V |
probably null |
Het |
| Bbox1 |
A |
G |
2: 110,135,922 (GRCm39) |
I19T |
possibly damaging |
Het |
| Bclaf3 |
T |
A |
X: 158,334,828 (GRCm39) |
H41Q |
probably benign |
Het |
| Ctsm |
T |
A |
13: 61,687,441 (GRCm39) |
Q107L |
probably benign |
Het |
| Ctso |
G |
A |
3: 81,859,556 (GRCm39) |
V288I |
probably benign |
Het |
| Cyp2a4 |
A |
C |
7: 26,007,969 (GRCm39) |
K125N |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,896,014 (GRCm39) |
S701P |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 30,987,424 (GRCm39) |
|
probably benign |
Het |
| Dnah11 |
A |
G |
12: 118,095,076 (GRCm39) |
M718T |
probably benign |
Het |
| Dnah2 |
C |
A |
11: 69,339,295 (GRCm39) |
A3071S |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 33,961,155 (GRCm39) |
|
probably null |
Het |
| Fam135a |
A |
T |
1: 24,053,892 (GRCm39) |
M1215K |
probably damaging |
Het |
| Gm6489 |
T |
A |
1: 31,326,764 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxc13 |
G |
A |
15: 102,829,873 (GRCm39) |
G84D |
possibly damaging |
Het |
| Ifi207 |
T |
C |
1: 173,555,128 (GRCm39) |
I851M |
probably damaging |
Het |
| Lipk |
T |
G |
19: 33,999,107 (GRCm39) |
L134R |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,896,345 (GRCm39) |
N678D |
possibly damaging |
Het |
| Msrb3 |
A |
T |
10: 120,620,119 (GRCm39) |
F67I |
probably damaging |
Het |
| Myo1a |
A |
G |
10: 127,550,767 (GRCm39) |
D593G |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup210l |
A |
T |
3: 90,114,701 (GRCm39) |
M1759L |
probably benign |
Het |
| Optn |
C |
A |
2: 5,039,009 (GRCm39) |
M371I |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,443,667 (GRCm39) |
V380D |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,064 (GRCm39) |
C311R |
possibly damaging |
Het |
| Rrp12 |
T |
C |
19: 41,874,167 (GRCm39) |
D377G |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,556 (GRCm39) |
|
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,704,885 (GRCm39) |
E570G |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,556 (GRCm39) |
R470G |
possibly damaging |
Het |
| Syngr4 |
T |
C |
7: 45,545,194 (GRCm39) |
E5G |
possibly damaging |
Het |
| Tmem88b |
A |
G |
4: 155,869,884 (GRCm39) |
L59P |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,620,703 (GRCm39) |
K13995* |
probably null |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,069 (GRCm39) |
Y221H |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,170 (GRCm39) |
L296* |
probably null |
Het |
|
| Other mutations in Hhipl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
lemon_drops
|
UTSW |
12 |
108,278,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474_Hhipl1_947
|
UTSW |
12 |
108,277,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Rock_candy
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0091:Hhipl1
|
UTSW |
12 |
108,288,156 (GRCm39) |
splice site |
probably benign |
|
|
R0180:Hhipl1
|
UTSW |
12 |
108,294,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Hhipl1
|
UTSW |
12 |
108,285,661 (GRCm39) |
nonsense |
probably null |
|
|
R0962:Hhipl1
|
UTSW |
12 |
108,293,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1170:Hhipl1
|
UTSW |
12 |
108,277,952 (GRCm39) |
nonsense |
probably null |
|
|
R1474:Hhipl1
|
UTSW |
12 |
108,277,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1878:Hhipl1
|
UTSW |
12 |
108,286,319 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2001:Hhipl1
|
UTSW |
12 |
108,288,118 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2103:Hhipl1
|
UTSW |
12 |
108,293,977 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2132:Hhipl1
|
UTSW |
12 |
108,277,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2342:Hhipl1
|
UTSW |
12 |
108,284,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Hhipl1
|
UTSW |
12 |
108,284,806 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3431:Hhipl1
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Hhipl1
|
UTSW |
12 |
108,277,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3802:Hhipl1
|
UTSW |
12 |
108,278,566 (GRCm39) |
missense |
probably benign |
|
|
R4744:Hhipl1
|
UTSW |
12 |
108,286,238 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4760:Hhipl1
|
UTSW |
12 |
108,286,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4927:Hhipl1
|
UTSW |
12 |
108,278,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5206:Hhipl1
|
UTSW |
12 |
108,278,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5244:Hhipl1
|
UTSW |
12 |
108,278,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5292:Hhipl1
|
UTSW |
12 |
108,294,037 (GRCm39) |
missense |
probably benign |
|
|
R5445:Hhipl1
|
UTSW |
12 |
108,294,467 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6248:Hhipl1
|
UTSW |
12 |
108,284,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9395:Hhipl1
|
UTSW |
12 |
108,285,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Hhipl1
|
UTSW |
12 |
108,294,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCCGTTCGTGGATGATC -3'
(R):5'- AATGCAACAGATCTCAGTCTCTG -3'
Sequencing Primer
(F):5'- TTCGTGGATGATCCCGGAGC -3'
(R):5'- TCAGTCTCTGAGCCCAGG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation