Incidental Mutation 'R0410:Hip1'
| ID |
36578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
038612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R0410 (G1)
|
| Quality Score |
168 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 135487009 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 66
(L66R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000201998]
[ENSMUST00000212301]
|
| AlphaFold |
Q8VD75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060311
AA Change: L91R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: L91R
| 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 |
probably damaging
Transcript: ENSMUST00000201998
AA Change: L57R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144392
Gene: ENSMUSG00000039959
AA Change: L57R
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
4 |
126 |
4.8e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202044
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212301
AA Change: L66R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,606,268 (GRCm39) |
D170G |
probably benign |
Het |
| Actrt3 |
C |
T |
3: 30,652,273 (GRCm39) |
G274S |
probably benign |
Het |
| Adamts18 |
G |
T |
8: 114,440,990 (GRCm39) |
C889* |
probably null |
Het |
| Alkbh6 |
C |
T |
7: 30,012,031 (GRCm39) |
P104S |
probably damaging |
Het |
| Alms1 |
A |
T |
6: 85,564,785 (GRCm39) |
E53V |
unknown |
Het |
| Ap3s1 |
T |
C |
18: 46,912,279 (GRCm39) |
C100R |
probably benign |
Het |
| Apbb2 |
G |
T |
5: 66,609,149 (GRCm39) |
A166E |
possibly damaging |
Het |
| Asph |
A |
G |
4: 9,595,415 (GRCm39) |
V174A |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,819 (GRCm39) |
L758P |
probably damaging |
Het |
| Cacng5 |
A |
G |
11: 107,768,195 (GRCm39) |
S271P |
possibly damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Chn1 |
A |
T |
2: 73,462,094 (GRCm39) |
C236* |
probably null |
Het |
| Coro1b |
T |
C |
19: 4,199,362 (GRCm39) |
V7A |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,201,859 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dixdc1 |
T |
C |
9: 50,596,153 (GRCm39) |
D152G |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,483,467 (GRCm39) |
S84P |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,832,799 (GRCm39) |
D844G |
probably benign |
Het |
| Edn3 |
C |
T |
2: 174,603,482 (GRCm39) |
P77S |
possibly damaging |
Het |
| Efcab7 |
T |
C |
4: 99,735,487 (GRCm39) |
|
probably null |
Het |
| Fam83g |
A |
G |
11: 61,594,218 (GRCm39) |
D584G |
probably damaging |
Het |
| Fbxo7 |
T |
A |
10: 85,865,102 (GRCm39) |
|
probably null |
Het |
| Ffar1 |
T |
C |
7: 30,560,055 (GRCm39) |
T281A |
probably benign |
Het |
| Fntb |
T |
C |
12: 76,934,826 (GRCm39) |
V201A |
probably benign |
Het |
| Gart |
C |
A |
16: 91,438,215 (GRCm39) |
A101S |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,232,939 (GRCm39) |
T238A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,424,329 (GRCm39) |
L663S |
possibly damaging |
Het |
| Helz2 |
A |
T |
2: 180,872,386 (GRCm39) |
V2512E |
probably damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,375 (GRCm39) |
D164E |
probably benign |
Het |
| Kcnip3 |
A |
G |
2: 127,301,986 (GRCm39) |
S193P |
probably damaging |
Het |
| Klra9 |
T |
A |
6: 130,165,707 (GRCm39) |
T103S |
probably benign |
Het |
| Meis2 |
T |
C |
2: 115,694,709 (GRCm39) |
*471W |
probably null |
Het |
| Minar1 |
T |
G |
9: 89,484,256 (GRCm39) |
E380D |
probably damaging |
Het |
| Mrpl21 |
T |
C |
19: 3,334,792 (GRCm39) |
S45P |
possibly damaging |
Het |
| Mterf1b |
A |
G |
5: 4,246,488 (GRCm39) |
E43G |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,372,569 (GRCm39) |
S4092R |
probably damaging |
Het |
| Nfatc3 |
A |
T |
8: 106,822,828 (GRCm39) |
N538I |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,641,503 (GRCm39) |
C1095R |
probably benign |
Het |
| Npm2 |
T |
A |
14: 70,889,993 (GRCm39) |
T13S |
probably benign |
Het |
| Or1m1 |
C |
A |
9: 18,666,137 (GRCm39) |
V265F |
probably damaging |
Het |
| Or7e176 |
T |
A |
9: 20,171,797 (GRCm39) |
F220L |
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,342,112 (GRCm39) |
I1158F |
probably damaging |
Het |
| Popdc3 |
T |
C |
10: 45,193,829 (GRCm39) |
V210A |
possibly damaging |
Het |
| Postn |
T |
C |
3: 54,292,698 (GRCm39) |
L755S |
possibly damaging |
Het |
| Prdx6b |
T |
C |
2: 80,123,373 (GRCm39) |
F61L |
probably damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,847 (GRCm39) |
R223H |
probably damaging |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Scaf4 |
A |
G |
16: 90,057,058 (GRCm39) |
Y98H |
unknown |
Het |
| Scn4a |
A |
G |
11: 106,214,775 (GRCm39) |
I1274T |
probably damaging |
Het |
| Senp2 |
G |
T |
16: 21,828,444 (GRCm39) |
R18L |
probably damaging |
Het |
| Six5 |
T |
A |
7: 18,830,381 (GRCm39) |
V336D |
probably damaging |
Het |
| Slc31a2 |
G |
A |
4: 62,210,890 (GRCm39) |
E8K |
probably benign |
Het |
| Slc4a7 |
A |
T |
14: 14,738,299 (GRCm38) |
T184S |
probably damaging |
Het |
| Slco2a1 |
T |
A |
9: 102,950,513 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
G |
5: 88,156,070 (GRCm39) |
|
probably benign |
Het |
| Sqor |
T |
C |
2: 122,629,442 (GRCm39) |
V100A |
probably benign |
Het |
| Srarp |
T |
C |
4: 141,160,459 (GRCm39) |
N125D |
possibly damaging |
Het |
| Stam |
T |
C |
2: 14,143,802 (GRCm39) |
V364A |
probably benign |
Het |
| Tgm5 |
T |
C |
2: 120,908,039 (GRCm39) |
I46V |
possibly damaging |
Het |
| Tie1 |
A |
T |
4: 118,337,766 (GRCm39) |
V443E |
probably damaging |
Het |
| Tipin |
T |
C |
9: 64,195,397 (GRCm39) |
M1T |
probably null |
Het |
| Tnc |
T |
C |
4: 63,925,931 (GRCm39) |
T950A |
probably benign |
Het |
| Tns3 |
T |
C |
11: 8,385,852 (GRCm39) |
D1382G |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 155,911,686 (GRCm39) |
V99A |
possibly damaging |
Het |
| Trim16 |
C |
T |
11: 62,711,297 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
T |
2: 76,618,701 (GRCm39) |
N14448K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,717,204 (GRCm39) |
|
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,343,752 (GRCm39) |
R255G |
probably benign |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,175 (GRCm39) |
I201T |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,679 (GRCm39) |
K339N |
probably benign |
Het |
| Yap1 |
A |
G |
9: 8,001,468 (GRCm39) |
Y173H |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGATTGGCAATCCTTTGTCTCCG -3'
(R):5'- AGGTATTTATACCCTCAGCCTCCAAGC -3'
Sequencing Primer
(F):5'- acaaactcacacatacacacac -3'
(R):5'- CTGCTAGGCAAACGTGTAGAAC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation