Incidental Mutation 'IGL01744:Hip1'
ID |
152992 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hip1
|
Ensembl Gene |
ENSMUSG00000039959 |
Gene Name |
huntingtin interacting protein 1 |
Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.802)
|
Stock # |
IGL01744
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to C
at 135573917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059033
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
|
AlphaFold |
Q8VD75 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000060311
|
SMART Domains |
Protein: ENSMUSP00000059033 Gene: ENSMUSG00000039959
Domain | Start | End | E-Value | Type |
ENTH
|
38 |
160 |
9.98e-41 |
SMART |
PDB:3I00|B
|
361 |
480 |
9e-57 |
PDB |
Pfam:HIP1_clath_bdg
|
482 |
572 |
2.1e-27 |
PFAM |
low complexity region
|
649 |
658 |
N/A |
INTRINSIC |
low complexity region
|
780 |
796 |
N/A |
INTRINSIC |
ILWEQ
|
806 |
1004 |
9.05e-120 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200898
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202044
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] PHENOTYPE: Homozygous mutants may exhibit axial skeleton defects, hematopotietic abnormalities, and testicular degeneration with increased apoptosis of postmeiotic spermatids. One line showed microphthalmia and cataracts, whereas others did not. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
C |
7: 12,284,459 (GRCm39) |
I102T |
possibly damaging |
Het |
4933412E24Rik |
C |
A |
15: 59,887,424 (GRCm39) |
A339S |
possibly damaging |
Het |
Ackr2 |
A |
G |
9: 121,738,185 (GRCm39) |
T187A |
probably benign |
Het |
Adam28 |
A |
G |
14: 68,844,956 (GRCm39) |
V777A |
probably benign |
Het |
Add3 |
T |
A |
19: 53,227,861 (GRCm39) |
D515E |
probably damaging |
Het |
Aire |
C |
A |
10: 77,872,557 (GRCm39) |
E354* |
probably null |
Het |
AW551984 |
T |
C |
9: 39,502,568 (GRCm39) |
K670R |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,162,563 (GRCm39) |
V287A |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
Bub1b |
T |
A |
2: 118,467,230 (GRCm39) |
I851N |
probably damaging |
Het |
Ceacam11 |
A |
T |
7: 17,707,323 (GRCm39) |
I36F |
possibly damaging |
Het |
Copa |
A |
G |
1: 171,940,756 (GRCm39) |
E714G |
probably benign |
Het |
Cth |
A |
T |
3: 157,630,572 (GRCm39) |
N32K |
probably benign |
Het |
Cyp2a5 |
T |
A |
7: 26,540,434 (GRCm39) |
M349K |
probably damaging |
Het |
D130052B06Rik |
A |
G |
11: 33,573,966 (GRCm39) |
S188G |
unknown |
Het |
Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
Flt1 |
T |
C |
5: 147,508,271 (GRCm39) |
N1161S |
probably benign |
Het |
Mapk11 |
A |
G |
15: 89,031,046 (GRCm39) |
|
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,494,417 (GRCm39) |
|
probably benign |
Het |
Myo1f |
C |
A |
17: 33,802,654 (GRCm39) |
|
probably benign |
Het |
Nipsnap1 |
G |
A |
11: 4,839,912 (GRCm39) |
R211H |
probably damaging |
Het |
Or52ab4 |
A |
G |
7: 102,987,435 (GRCm39) |
H58R |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
Pcdh1 |
A |
T |
18: 38,336,302 (GRCm39) |
I111N |
probably damaging |
Het |
Piezo2 |
T |
A |
18: 63,175,859 (GRCm39) |
I1841F |
probably damaging |
Het |
Pirb |
G |
T |
7: 3,720,175 (GRCm39) |
Y399* |
probably null |
Het |
Ppp1r36 |
A |
T |
12: 76,486,006 (GRCm39) |
N388I |
possibly damaging |
Het |
Prr16 |
A |
G |
18: 51,436,061 (GRCm39) |
D180G |
possibly damaging |
Het |
Prss39 |
A |
G |
1: 34,541,280 (GRCm39) |
|
probably null |
Het |
Spopfm2 |
T |
A |
3: 94,083,544 (GRCm39) |
K89M |
probably damaging |
Het |
Trank1 |
T |
A |
9: 111,178,431 (GRCm39) |
V373D |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,889,923 (GRCm39) |
E186G |
probably damaging |
Het |
Zmym2 |
T |
C |
14: 57,184,029 (GRCm39) |
V997A |
probably benign |
Het |
|
Other mutations in Hip1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00326:Hip1
|
APN |
5 |
135,478,676 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00418:Hip1
|
APN |
5 |
135,455,200 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02494:Hip1
|
APN |
5 |
135,473,645 (GRCm39) |
nonsense |
probably null |
|
IGL02749:Hip1
|
APN |
5 |
135,473,605 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03219:Hip1
|
APN |
5 |
135,485,904 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03328:Hip1
|
APN |
5 |
135,453,728 (GRCm39) |
missense |
probably damaging |
1.00 |
BB010:Hip1
|
UTSW |
5 |
135,489,310 (GRCm39) |
missense |
probably damaging |
0.98 |
BB020:Hip1
|
UTSW |
5 |
135,489,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R0100:Hip1
|
UTSW |
5 |
135,465,307 (GRCm39) |
missense |
probably benign |
|
R0100:Hip1
|
UTSW |
5 |
135,465,307 (GRCm39) |
missense |
probably benign |
|
R0336:Hip1
|
UTSW |
5 |
135,457,467 (GRCm39) |
missense |
probably benign |
0.39 |
R0410:Hip1
|
UTSW |
5 |
135,487,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1454:Hip1
|
UTSW |
5 |
135,467,486 (GRCm39) |
missense |
probably benign |
|
R1530:Hip1
|
UTSW |
5 |
135,473,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Hip1
|
UTSW |
5 |
135,463,995 (GRCm39) |
splice site |
probably null |
|
R2201:Hip1
|
UTSW |
5 |
135,460,584 (GRCm39) |
missense |
probably benign |
|
R2246:Hip1
|
UTSW |
5 |
135,481,698 (GRCm39) |
missense |
probably damaging |
1.00 |
R2276:Hip1
|
UTSW |
5 |
135,485,900 (GRCm39) |
missense |
probably damaging |
1.00 |
R2353:Hip1
|
UTSW |
5 |
135,441,566 (GRCm39) |
missense |
probably damaging |
1.00 |
R3013:Hip1
|
UTSW |
5 |
135,463,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3413:Hip1
|
UTSW |
5 |
135,451,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R3939:Hip1
|
UTSW |
5 |
135,457,618 (GRCm39) |
missense |
probably benign |
0.14 |
R4153:Hip1
|
UTSW |
5 |
135,441,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Hip1
|
UTSW |
5 |
135,455,172 (GRCm39) |
splice site |
probably null |
|
R5059:Hip1
|
UTSW |
5 |
135,478,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R5171:Hip1
|
UTSW |
5 |
135,469,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R5189:Hip1
|
UTSW |
5 |
135,463,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R5358:Hip1
|
UTSW |
5 |
135,465,252 (GRCm39) |
missense |
probably benign |
0.22 |
R5642:Hip1
|
UTSW |
5 |
135,461,939 (GRCm39) |
nonsense |
probably null |
|
R5646:Hip1
|
UTSW |
5 |
135,457,595 (GRCm39) |
missense |
probably damaging |
0.98 |
R5831:Hip1
|
UTSW |
5 |
135,440,117 (GRCm39) |
missense |
probably benign |
0.00 |
R5908:Hip1
|
UTSW |
5 |
135,453,717 (GRCm39) |
critical splice donor site |
probably null |
|
R6484:Hip1
|
UTSW |
5 |
135,468,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R6535:Hip1
|
UTSW |
5 |
135,457,351 (GRCm39) |
splice site |
probably null |
|
R6557:Hip1
|
UTSW |
5 |
135,457,573 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7459:Hip1
|
UTSW |
5 |
135,443,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R7589:Hip1
|
UTSW |
5 |
135,443,165 (GRCm39) |
missense |
probably benign |
|
R7677:Hip1
|
UTSW |
5 |
135,459,171 (GRCm39) |
missense |
probably benign |
|
R7933:Hip1
|
UTSW |
5 |
135,489,310 (GRCm39) |
missense |
probably damaging |
0.98 |
R8267:Hip1
|
UTSW |
5 |
135,457,467 (GRCm39) |
missense |
probably benign |
0.39 |
R8825:Hip1
|
UTSW |
5 |
135,450,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R8900:Hip1
|
UTSW |
5 |
135,459,144 (GRCm39) |
missense |
probably benign |
|
R8931:Hip1
|
UTSW |
5 |
135,460,297 (GRCm39) |
unclassified |
probably benign |
|
R9059:Hip1
|
UTSW |
5 |
135,457,597 (GRCm39) |
missense |
probably benign |
0.01 |
R9262:Hip1
|
UTSW |
5 |
135,478,541 (GRCm39) |
missense |
probably damaging |
1.00 |
R9441:Hip1
|
UTSW |
5 |
135,460,571 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9685:Hip1
|
UTSW |
5 |
135,478,676 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Hip1
|
UTSW |
5 |
135,457,460 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2014-02-04 |