Incidental Mutation 'R7589:Hip1'
| ID |
587302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
045637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.802)
|
| Stock # |
R7589 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135443165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 956
(D956G)
|
| 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: D956G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: D956G
| 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: D545G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144086
Gene: ENSMUSG00000039959
AA Change: D545G
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
G |
7: 41,276,396 (GRCm39) |
C700G |
probably damaging |
Het |
| 4930486L24Rik |
T |
C |
13: 60,990,747 (GRCm39) |
K316E |
probably damaging |
Het |
| Akap6 |
A |
T |
12: 53,188,846 (GRCm39) |
K2087* |
probably null |
Het |
| Alpk2 |
A |
T |
18: 65,433,144 (GRCm39) |
H1320Q |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,080,643 (GRCm39) |
R31W |
probably damaging |
Het |
| Asnsd1 |
G |
T |
1: 53,387,126 (GRCm39) |
A167E |
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,780,547 (GRCm39) |
D409G |
probably benign |
Het |
| Atp13a3 |
T |
A |
16: 30,163,433 (GRCm39) |
E574D |
probably benign |
Het |
| Bicd1 |
A |
T |
6: 149,415,165 (GRCm39) |
Y626F |
possibly damaging |
Het |
| Cdc5l |
C |
T |
17: 45,721,707 (GRCm39) |
R521Q |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,807,660 (GRCm39) |
F160L |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fmo9 |
T |
A |
1: 166,501,997 (GRCm39) |
K209N |
possibly damaging |
Het |
| Gsdmc2 |
C |
A |
15: 63,696,892 (GRCm39) |
L426F |
probably damaging |
Het |
| Kif28 |
C |
T |
1: 179,558,965 (GRCm39) |
V248I |
probably benign |
Het |
| Klk10 |
T |
C |
7: 43,433,051 (GRCm39) |
V149A |
probably benign |
Het |
| Krt40 |
G |
T |
11: 99,430,983 (GRCm39) |
N255K |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,060,251 (GRCm39) |
Y1013* |
probably null |
Het |
| Mcur1 |
T |
C |
13: 43,705,101 (GRCm39) |
Y185C |
probably damaging |
Het |
| Mzt1 |
T |
C |
14: 99,273,948 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Nkx1-2 |
T |
C |
7: 132,201,204 (GRCm39) |
I18V |
probably damaging |
Het |
| Ofcc1 |
T |
A |
13: 40,408,960 (GRCm39) |
Q155L |
probably benign |
Het |
| Or1ad1 |
A |
T |
11: 50,875,857 (GRCm39) |
M110L |
probably damaging |
Het |
| Or4a2 |
A |
G |
2: 89,248,724 (GRCm39) |
V11A |
possibly damaging |
Het |
| Or4k38 |
T |
C |
2: 111,165,719 (GRCm39) |
K235E |
probably damaging |
Het |
| Or51q1 |
T |
C |
7: 103,628,998 (GRCm39) |
Y200H |
probably damaging |
Het |
| Or9s15 |
G |
A |
1: 92,524,781 (GRCm39) |
R180H |
probably benign |
Het |
| Prnp |
A |
G |
2: 131,778,786 (GRCm39) |
D146G |
probably benign |
Het |
| Rhbdf1 |
C |
T |
11: 32,162,903 (GRCm39) |
V455I |
probably benign |
Het |
| Rnf6 |
G |
A |
5: 146,148,239 (GRCm39) |
R260W |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,560,279 (GRCm39) |
N520S |
possibly damaging |
Het |
| Setbp1 |
A |
T |
18: 78,899,707 (GRCm39) |
M1320K |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,123 (GRCm39) |
T338A |
probably damaging |
Het |
| Tcf4 |
A |
G |
18: 69,815,890 (GRCm39) |
*693W |
probably null |
Het |
| Ttc8 |
A |
T |
12: 98,942,696 (GRCm39) |
D412V |
probably damaging |
Het |
| Ush2a |
G |
T |
1: 188,275,046 (GRCm39) |
A1840S |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,688 (GRCm39) |
S137R |
|
Het |
| Vmn1r91 |
T |
A |
7: 19,835,802 (GRCm39) |
H240Q |
probably benign |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,634 (GRCm39) |
H729L |
probably benign |
Het |
| Yme1l1 |
C |
T |
2: 23,050,274 (GRCm39) |
T35I |
probably benign |
Het |
| Zfp292 |
A |
G |
4: 34,806,777 (GRCm39) |
V2094A |
probably damaging |
Het |
| Zfp934 |
A |
T |
13: 62,666,130 (GRCm39) |
N202K |
|
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 |
|
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'- GACAAGTGCTCTGAACTGCTG -3'
(R):5'- TGCACACTTGTATGTACACAAAGG -3'
Sequencing Primer
(F):5'- CAAGTGCTGGGATTATTACATGCCC -3'
(R):5'- CACTTGTATGTACACAAAGGAAGTCC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation