Incidental Mutation 'R8267:Hip1'
| ID |
639581 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
067651-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R8267 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135457467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 720
(Y720N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000202643]
|
| AlphaFold |
Q8VD75 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060311
AA Change: Y720N
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: Y720N
| 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 |
probably benign
Transcript: ENSMUST00000200808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201479
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202643
AA Change: Y309N
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: Y309N
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2QA7|D
|
1 |
70 |
9e-34 |
PDB |
|
Pfam:HIP1_clath_bdg
|
71 |
161 |
4.4e-24 |
PFAM |
|
low complexity region
|
238 |
247 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
385 |
N/A |
INTRINSIC |
|
ILWEQ
|
395 |
593 |
5.7e-122 |
SMART |
|
| Meta Mutation Damage Score |
0.1335 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Acbd3 |
A |
G |
1: 180,574,413 (GRCm39) |
D379G |
probably damaging |
Het |
| Akp3 |
A |
T |
1: 87,055,461 (GRCm39) |
T503S |
unknown |
Het |
| Antxr2 |
T |
A |
5: 98,113,621 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
A |
T |
1: 24,224,267 (GRCm39) |
T150S |
unknown |
Het |
| Coro1c |
T |
C |
5: 113,985,636 (GRCm39) |
D287G |
probably damaging |
Het |
| Cox16 |
T |
C |
12: 81,527,713 (GRCm39) |
T45A |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,311,853 (GRCm39) |
L1161P |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,518,045 (GRCm39) |
T1311A |
probably benign |
Het |
| Dop1a |
C |
T |
9: 86,396,054 (GRCm39) |
P839S |
possibly damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,096,562 (GRCm39) |
D334V |
probably benign |
Het |
| H2-T15 |
A |
G |
17: 36,367,675 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,735,005 (GRCm39) |
F169S |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,349,191 (GRCm39) |
T4977A |
probably benign |
Het |
| Kcnq5 |
A |
T |
1: 21,575,609 (GRCm39) |
I279N |
probably damaging |
Het |
| Lnx2 |
A |
T |
5: 146,965,901 (GRCm39) |
I406N |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,742,485 (GRCm39) |
Y3908H |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,168,344 (GRCm39) |
I128V |
probably benign |
Het |
| Optn |
T |
C |
2: 5,059,462 (GRCm39) |
T19A |
probably benign |
Het |
| Or10g1b |
A |
G |
14: 52,627,903 (GRCm39) |
F109S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,160 (GRCm39) |
Y132C |
probably benign |
Het |
| Pmch |
A |
T |
10: 87,926,979 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
T |
C |
9: 116,885,823 (GRCm39) |
N141D |
possibly damaging |
Het |
| Reln |
A |
G |
5: 22,209,110 (GRCm39) |
L1156P |
probably damaging |
Het |
| Rgs6 |
A |
C |
12: 82,698,669 (GRCm39) |
M23L |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,863,751 (GRCm39) |
Y812C |
probably benign |
Het |
| Smap1 |
T |
A |
1: 23,905,365 (GRCm39) |
K143I |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,952,994 (GRCm39) |
H868L |
probably damaging |
Het |
| Tnip3 |
T |
G |
6: 65,582,826 (GRCm39) |
V140G |
possibly damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,742,752 (GRCm39) |
C375* |
probably null |
Het |
| Vmn2r19 |
T |
C |
6: 123,313,221 (GRCm39) |
S764P |
possibly damaging |
Het |
| Vmn2r22 |
T |
C |
6: 123,615,000 (GRCm39) |
T197A |
possibly damaging |
Het |
| Vmn2r59 |
T |
G |
7: 41,661,521 (GRCm39) |
T765P |
probably damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,704 (GRCm39) |
K12R |
probably benign |
Het |
| Vps41 |
T |
C |
13: 18,994,641 (GRCm39) |
S163P |
probably benign |
Het |
| Wdr97 |
C |
T |
15: 76,240,794 (GRCm39) |
A494V |
|
Het |
| Zfp382 |
G |
C |
7: 29,833,929 (GRCm39) |
G527R |
probably damaging |
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 |
|
IGL01744:Hip1
|
APN |
5 |
135,573,917 (GRCm39) |
utr 5 prime |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCAGGGTTCATTCTTAGCCTC -3'
(R):5'- CCACTTGACCGGTGACACTATC -3'
Sequencing Primer
(F):5'- CAGGGTTCATTCTTAGCCTCAAAGAG -3'
(R):5'- TTGACCGGTGACACTATCATCCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation