Incidental Mutation 'R8825:Hip1'
| ID |
673379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
068728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.795)
|
| Stock # |
R8825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135450976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 879
(V879M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000202643]
|
| AlphaFold |
Q8VD75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060311
AA Change: V879M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: V879M
| 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 damaging
Transcript: ENSMUST00000202643
AA Change: V468M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: V468M
| 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 |
0.5339 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
T |
A |
2: 91,103,906 (GRCm39) |
L334Q |
probably damaging |
Het |
| Arhgef18 |
T |
A |
8: 3,436,951 (GRCm39) |
L247Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,920,500 (GRCm39) |
C2100S |
probably damaging |
Het |
| Bpi |
A |
G |
2: 158,109,670 (GRCm39) |
D206G |
probably benign |
Het |
| C6 |
T |
C |
15: 4,761,170 (GRCm39) |
I10T |
possibly damaging |
Het |
| Cactin |
A |
G |
10: 81,161,492 (GRCm39) |
T675A |
probably damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Cdkal1 |
C |
T |
13: 29,538,777 (GRCm39) |
V461I |
probably benign |
Het |
| Ces2g |
C |
T |
8: 105,693,954 (GRCm39) |
S430F |
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,382,522 (GRCm39) |
H382Q |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,268,061 (GRCm39) |
V89E |
probably damaging |
Het |
| Crtc2 |
T |
A |
3: 90,166,463 (GRCm39) |
M146K |
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,521,316 (GRCm39) |
D374E |
possibly damaging |
Het |
| Dgkg |
T |
A |
16: 22,381,519 (GRCm39) |
H477L |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,343,174 (GRCm39) |
V1506D |
possibly damaging |
Het |
| Erfl |
A |
G |
7: 24,628,682 (GRCm39) |
V60A |
possibly damaging |
Het |
| Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
| Fem1al |
T |
C |
11: 29,773,696 (GRCm39) |
E587G |
probably benign |
Het |
| Flnb |
G |
T |
14: 7,887,566 (GRCm38) |
G459C |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,739,809 (GRCm39) |
D2757G |
probably benign |
Het |
| Gsta4 |
T |
G |
9: 78,116,121 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,700,626 (GRCm39) |
M1K |
probably null |
Het |
| Htt |
T |
C |
5: 34,983,304 (GRCm39) |
Y968H |
probably benign |
Het |
| Ints11 |
T |
A |
4: 155,969,587 (GRCm39) |
Y154* |
probably null |
Het |
| Itih5 |
A |
G |
2: 10,195,231 (GRCm39) |
S208G |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,362,460 (GRCm39) |
T701I |
probably benign |
Het |
| Lgals3 |
T |
A |
14: 47,617,557 (GRCm39) |
Y22* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,587 (GRCm39) |
D118E |
probably benign |
Het |
| Mad2l2 |
T |
C |
4: 148,225,277 (GRCm39) |
L9P |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,318,571 (GRCm39) |
T6A |
probably benign |
Het |
| Mcat |
T |
C |
15: 83,436,812 (GRCm39) |
N143S |
probably benign |
Het |
| Med10 |
T |
G |
13: 69,962,046 (GRCm39) |
C144G |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,982,460 (GRCm39) |
F539I |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,849,776 (GRCm39) |
S1174T |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,466,871 (GRCm39) |
W1330C |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,892,169 (GRCm39) |
S1612P |
possibly damaging |
Het |
| Nipal4 |
T |
C |
11: 46,052,873 (GRCm39) |
I31V |
probably benign |
Het |
| Obox3 |
A |
T |
7: 15,361,226 (GRCm39) |
V13E |
possibly damaging |
Het |
| Or2ag19 |
A |
T |
7: 106,444,636 (GRCm39) |
I273F |
probably damaging |
Het |
| Or8g4 |
T |
C |
9: 39,661,994 (GRCm39) |
F104S |
probably damaging |
Het |
| Ppic |
A |
G |
18: 53,542,222 (GRCm39) |
V162A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,090,043 (GRCm39) |
K699R |
probably benign |
Het |
| Prl2c2 |
T |
A |
13: 13,179,656 (GRCm39) |
L6F |
possibly damaging |
Het |
| Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,313,586 (GRCm39) |
S474P |
|
Het |
| Sema5a |
T |
G |
15: 32,689,498 (GRCm39) |
H1054Q |
probably benign |
Het |
| Slc6a18 |
C |
A |
13: 73,813,751 (GRCm39) |
V521F |
probably null |
Het |
| Stat2 |
T |
A |
10: 128,127,233 (GRCm39) |
D921E |
possibly damaging |
Het |
| Tcf24 |
G |
T |
1: 10,031,224 (GRCm39) |
N42K |
unknown |
Het |
| Tgfb2 |
T |
A |
1: 186,361,136 (GRCm39) |
N372Y |
probably damaging |
Het |
| Tktl2 |
A |
C |
8: 66,966,319 (GRCm39) |
M626L |
possibly damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,201 (GRCm39) |
D1220G |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,754 (GRCm39) |
T109A |
probably benign |
Het |
| Trim30a |
T |
A |
7: 104,060,529 (GRCm39) |
K416* |
probably null |
Het |
| Trpm5 |
T |
C |
7: 142,636,753 (GRCm39) |
K395E |
possibly damaging |
Het |
| Ufm1 |
T |
A |
3: 53,771,093 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,237,683 (GRCm39) |
|
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,019 (GRCm39) |
V80A |
probably benign |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,855 (GRCm39) |
Y524F |
probably benign |
Het |
| Zfp1007 |
T |
G |
5: 109,826,746 (GRCm39) |
T5P |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,552 (GRCm39) |
S65G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,926,601 (GRCm39) |
V150A |
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 |
|
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 |
|
R8267:Hip1
|
UTSW |
5 |
135,457,467 (GRCm39) |
missense |
probably benign |
0.39 |
|
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'- CCATTGATCTAGCCCAGCAC -3'
(R):5'- GCTGCACAGTGATATCTTGTC -3'
Sequencing Primer
(F):5'- TTATTACACAAGGACCTGGGTAGCC -3'
(R):5'- GTACTGCATCCCCTAAAGA -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation