Incidental Mutation 'R6535:Hip1'
ID |
520327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hip1
|
Ensembl Gene |
ENSMUSG00000039959 |
Gene Name |
huntingtin interacting protein 1 |
Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
MMRRC Submission |
044661-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.795)
|
Stock # |
R6535 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 135457351 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144086
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000202643]
|
AlphaFold |
Q8VD75 |
Predicted Effect |
probably null
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: ENSMUST00000201479
|
Predicted Effect |
probably null
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
G |
A |
17: 43,750,920 (GRCm39) |
S495N |
probably benign |
Het |
Ank3 |
G |
T |
10: 69,713,684 (GRCm39) |
A448S |
probably damaging |
Het |
Apobec3 |
A |
G |
15: 79,781,950 (GRCm39) |
*47W |
probably null |
Het |
B4gat1 |
T |
C |
19: 5,089,558 (GRCm39) |
V185A |
possibly damaging |
Het |
Cers1 |
T |
A |
8: 70,782,804 (GRCm39) |
V58D |
probably damaging |
Het |
Chrm1 |
T |
A |
19: 8,656,437 (GRCm39) |
Y381N |
possibly damaging |
Het |
Cpne6 |
A |
T |
14: 55,751,122 (GRCm39) |
E177V |
probably benign |
Het |
Cpt1a |
T |
A |
19: 3,415,788 (GRCm39) |
|
probably null |
Het |
Ctsq |
A |
T |
13: 61,183,140 (GRCm39) |
I334N |
probably damaging |
Het |
Dennd6b |
A |
G |
15: 89,070,570 (GRCm39) |
L400P |
probably damaging |
Het |
Fam135b |
A |
G |
15: 71,493,924 (GRCm39) |
S2P |
probably damaging |
Het |
Lama2 |
A |
C |
10: 26,980,127 (GRCm39) |
L1896R |
probably damaging |
Het |
Ly6g6g |
T |
C |
15: 74,644,074 (GRCm39) |
S81G |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,365,728 (GRCm39) |
V3011D |
possibly damaging |
Het |
Macrod1 |
A |
G |
19: 7,034,515 (GRCm39) |
D86G |
probably damaging |
Het |
Mettl8 |
G |
T |
2: 70,803,733 (GRCm39) |
H185N |
possibly damaging |
Het |
Mipol1 |
A |
C |
12: 57,352,886 (GRCm39) |
Q75P |
possibly damaging |
Het |
Pi4ka |
C |
T |
16: 17,118,900 (GRCm39) |
V125M |
probably damaging |
Het |
Pole |
A |
C |
5: 110,472,673 (GRCm39) |
Y1618S |
probably damaging |
Het |
Prrc2a |
A |
G |
17: 35,381,241 (GRCm39) |
V21A |
unknown |
Het |
Rhbdl1 |
A |
T |
17: 26,054,799 (GRCm39) |
Y111* |
probably null |
Het |
Sbk3 |
A |
C |
7: 4,972,840 (GRCm39) |
M110R |
possibly damaging |
Het |
Scn8a |
G |
A |
15: 100,857,588 (GRCm39) |
|
probably benign |
Het |
Tcstv2c |
T |
C |
13: 120,616,190 (GRCm39) |
S10P |
probably damaging |
Het |
Tshz3 |
T |
C |
7: 36,468,214 (GRCm39) |
S68P |
probably damaging |
Het |
Vmn1r88 |
C |
T |
7: 12,912,112 (GRCm39) |
T156I |
probably benign |
Het |
Wrn |
T |
C |
8: 33,826,131 (GRCm39) |
H177R |
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 |
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 |
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'- GCAGTAGCATTCGTACTTGAAA -3'
(R):5'- CAGGCAGTGTTTAAACATCTGTCT -3'
Sequencing Primer
(F):5'- ACACACTCACTTTCTGGGTAGACATG -3'
(R):5'- AGTGTTTAAACATCTGTCTCTCCTG -3'
|
Posted On |
2018-06-06 |