Incidental Mutation 'R5358:Hip1'
| ID |
457861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
042937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R5358 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135465252 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 385
(S385R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000202643]
[ENSMUST00000212301]
|
| 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 |
probably benign
Transcript: ENSMUST00000200808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202643
|
| SMART Domains |
Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212301
AA Change: S385R
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,849,165 (GRCm39) |
V1842A |
probably damaging |
Het |
| Abi3 |
A |
T |
11: 95,732,934 (GRCm39) |
F13L |
probably benign |
Het |
| Adgre4 |
A |
G |
17: 56,125,758 (GRCm39) |
K538R |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,342,581 (GRCm39) |
H191Y |
probably benign |
Het |
| Bicdl2 |
A |
G |
17: 23,886,538 (GRCm39) |
T376A |
probably benign |
Het |
| Ceacam18 |
C |
A |
7: 43,286,497 (GRCm39) |
N123K |
possibly damaging |
Het |
| Celsr3 |
C |
T |
9: 108,709,224 (GRCm39) |
R1357C |
possibly damaging |
Het |
| Chek2 |
T |
C |
5: 110,989,148 (GRCm39) |
|
probably benign |
Het |
| Chmp7 |
A |
G |
14: 69,958,684 (GRCm39) |
V210A |
probably benign |
Het |
| Chrm2 |
A |
G |
6: 36,500,290 (GRCm39) |
K49R |
probably damaging |
Het |
| Ciao2b |
T |
C |
8: 105,368,282 (GRCm39) |
N14S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,999,233 (GRCm39) |
L623* |
probably null |
Het |
| Ddx31 |
T |
A |
2: 28,753,782 (GRCm39) |
C448S |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,586,331 (GRCm39) |
S1507P |
probably damaging |
Het |
| Dnah8 |
C |
A |
17: 30,965,928 (GRCm39) |
T2420K |
probably damaging |
Het |
| Dyrk3 |
C |
T |
1: 131,057,432 (GRCm39) |
R247H |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,242,934 (GRCm39) |
E49G |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,476,596 (GRCm39) |
E258G |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,877,321 (GRCm39) |
E1106K |
probably damaging |
Het |
| Igsf9 |
C |
T |
1: 172,312,078 (GRCm39) |
T8I |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Katnal2 |
A |
G |
18: 77,105,190 (GRCm39) |
Y86H |
possibly damaging |
Het |
| Kcnh6 |
A |
T |
11: 105,918,417 (GRCm39) |
I756F |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,535,432 (GRCm39) |
R570* |
probably null |
Het |
| Kif16b |
T |
A |
2: 142,582,889 (GRCm39) |
R545S |
probably damaging |
Het |
| Kif21b |
T |
A |
1: 136,100,030 (GRCm39) |
I1528N |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,730,571 (GRCm39) |
|
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mknk2 |
T |
C |
10: 80,507,597 (GRCm39) |
T60A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,907 (GRCm39) |
K1466E |
probably damaging |
Het |
| Ntsr2 |
A |
C |
12: 16,704,083 (GRCm39) |
T109P |
probably damaging |
Het |
| Nup214 |
C |
A |
2: 31,907,158 (GRCm39) |
S995Y |
unknown |
Het |
| Or2a5 |
A |
T |
6: 42,873,454 (GRCm39) |
Q23L |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,762,750 (GRCm39) |
L456* |
probably null |
Het |
| Pde5a |
A |
G |
3: 122,541,825 (GRCm39) |
D105G |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,456,597 (GRCm39) |
P709H |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Rab3c |
T |
C |
13: 110,198,497 (GRCm39) |
N179S |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,646,885 (GRCm39) |
R559S |
probably benign |
Het |
| Sf3b1 |
A |
G |
1: 55,042,469 (GRCm39) |
Y474H |
probably benign |
Het |
| Slc6a6 |
G |
T |
6: 91,712,155 (GRCm39) |
W228L |
probably benign |
Het |
| Slc8a2 |
T |
G |
7: 15,891,228 (GRCm39) |
I750S |
probably damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,309,251 (GRCm39) |
I194L |
unknown |
Het |
| Smarcd1 |
C |
T |
15: 99,601,128 (GRCm39) |
Q45* |
probably null |
Het |
| Srcap |
T |
G |
7: 127,139,492 (GRCm39) |
L1271R |
probably damaging |
Het |
| Srsf12 |
A |
T |
4: 33,209,330 (GRCm39) |
N9Y |
probably damaging |
Het |
| St7 |
T |
C |
6: 17,819,317 (GRCm39) |
S74P |
probably damaging |
Het |
| Stxbp5l |
T |
A |
16: 36,994,688 (GRCm39) |
E739V |
probably damaging |
Het |
| Sun3 |
T |
A |
11: 8,981,496 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Tbc1d32 |
T |
C |
10: 56,047,033 (GRCm39) |
H545R |
possibly damaging |
Het |
| Tcp11 |
A |
T |
17: 28,296,994 (GRCm39) |
C133S |
probably benign |
Het |
| Tm6sf2 |
T |
C |
8: 70,526,939 (GRCm39) |
V36A |
possibly damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,717 (GRCm39) |
Y244C |
probably damaging |
Het |
| Tra2a |
A |
T |
6: 49,227,949 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
A |
T |
19: 22,903,332 (GRCm39) |
I1031F |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,378,292 (GRCm39) |
K381E |
probably benign |
Het |
| Uaca |
T |
C |
9: 60,778,430 (GRCm39) |
V937A |
probably benign |
Het |
| Umod |
C |
T |
7: 119,071,577 (GRCm39) |
G388D |
probably damaging |
Het |
| Vmn2r90 |
G |
A |
17: 17,924,412 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
T |
A |
9: 121,594,661 (GRCm39) |
F540Y |
probably damaging |
Het |
| Zfp644 |
G |
A |
5: 106,783,541 (GRCm39) |
T1002I |
probably damaging |
Het |
| Zfp738 |
A |
G |
13: 67,819,131 (GRCm39) |
Y287H |
probably damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,644,771 (GRCm39) |
T1144A |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,361,352 (GRCm39) |
|
probably null |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2017-02-16 |
Incidental Mutation