Incidental Mutation 'R5831:Hip1'
| ID |
449308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
043220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R5831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135440117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1015
(E1015G)
|
| 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: E1015G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: E1015G
| 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: ENSMUST00000202643
AA Change: E604G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: E604G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.6%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,517,777 (GRCm39) |
K4460* |
probably null |
Het |
| Adam21 |
A |
G |
12: 81,605,875 (GRCm39) |
V629A |
probably benign |
Het |
| Adamts5 |
C |
T |
16: 85,665,006 (GRCm39) |
V653I |
probably damaging |
Het |
| Adarb2 |
G |
A |
13: 8,609,169 (GRCm39) |
A44T |
probably benign |
Het |
| Ank2 |
T |
C |
3: 127,132,808 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,024 (GRCm39) |
Y833C |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,820,636 (GRCm39) |
S1297P |
probably damaging |
Het |
| Cdc25b |
G |
T |
2: 131,029,301 (GRCm39) |
|
probably null |
Het |
| Ciart |
A |
T |
3: 95,786,214 (GRCm39) |
V287D |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,213,650 (GRCm39) |
F353S |
probably damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,119,592 (GRCm39) |
E1717K |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,421,611 (GRCm39) |
K82R |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,998,947 (GRCm39) |
T1034S |
probably benign |
Het |
| Dock6 |
T |
C |
9: 21,714,332 (GRCm39) |
E1837G |
probably damaging |
Het |
| Eeig2 |
A |
T |
3: 108,900,019 (GRCm39) |
S110T |
possibly damaging |
Het |
| Flg2 |
G |
A |
3: 93,107,541 (GRCm39) |
V9I |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,988,918 (GRCm39) |
T602S |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,811,880 (GRCm39) |
R707H |
probably damaging |
Het |
| Irgq |
C |
A |
7: 24,232,763 (GRCm39) |
F201L |
probably damaging |
Het |
| Isoc2b |
C |
A |
7: 4,854,023 (GRCm39) |
L116F |
probably null |
Het |
| Loxl3 |
A |
T |
6: 83,025,999 (GRCm39) |
T416S |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,746,798 (GRCm39) |
*960W |
probably null |
Het |
| Morn1 |
A |
G |
4: 155,185,733 (GRCm39) |
H183R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,313,523 (GRCm39) |
N918I |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,679,540 (GRCm39) |
V763A |
probably benign |
Het |
| Or11g1 |
A |
G |
14: 50,651,439 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
G |
A |
2: 88,356,824 (GRCm39) |
W299* |
probably null |
Het |
| Papola |
A |
G |
12: 105,789,859 (GRCm39) |
K482E |
probably benign |
Het |
| Pck1 |
C |
T |
2: 172,998,792 (GRCm39) |
T350I |
probably damaging |
Het |
| Peli2 |
G |
A |
14: 48,405,727 (GRCm39) |
A51T |
probably damaging |
Het |
| Preb |
T |
C |
5: 31,116,208 (GRCm39) |
H133R |
probably benign |
Het |
| Rpl36-ps4 |
T |
C |
17: 88,228,685 (GRCm39) |
V73A |
probably benign |
Het |
| Scaf11 |
G |
A |
15: 96,314,962 (GRCm39) |
P1240L |
probably benign |
Het |
| Selenom |
G |
T |
11: 3,466,882 (GRCm39) |
E81* |
probably null |
Het |
| Serpinb1c |
T |
C |
13: 33,081,081 (GRCm39) |
M1V |
probably null |
Het |
| Tanc1 |
T |
C |
2: 59,615,685 (GRCm39) |
S231P |
possibly damaging |
Het |
| Trappc10 |
C |
T |
10: 78,045,260 (GRCm39) |
R476Q |
probably damaging |
Het |
| Twf2 |
T |
A |
9: 106,091,386 (GRCm39) |
D200E |
probably benign |
Het |
| Vmn1r17 |
T |
C |
6: 57,337,999 (GRCm39) |
Y122C |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,272,922 (GRCm39) |
D579N |
probably benign |
Het |
| Vrtn |
A |
T |
12: 84,695,349 (GRCm39) |
E33V |
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 |
|
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 |
PCR Primer
(F):5'- GATGGCCTTCAGCTTTTGTCAC -3'
(R):5'- CTTTCTGCATGGCAAAAGTGG -3'
Sequencing Primer
(F):5'- TTTGTCACTGGAGAGGCCTACAAG -3'
(R):5'- GGCAAAAGTGGTTATGTCCATCCC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation