Incidental Mutation 'R2246:Hip1'
| ID |
240852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1
|
| Ensembl Gene |
ENSMUSG00000039959 |
| Gene Name |
huntingtin interacting protein 1 |
| Synonyms |
A930014B11Rik, 2610109B09Rik, E130315I21Rik, HIP-1 |
| MMRRC Submission |
040246-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.795)
|
| Stock # |
R2246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
135435385-135573974 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 135481698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 166
(S166R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060311]
[ENSMUST00000201998]
[ENSMUST00000212301]
|
| AlphaFold |
Q8VD75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060311
AA Change: S166R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059033
Gene: ENSMUSG00000039959
AA Change: S166R
| 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 benign
Transcript: ENSMUST00000201998
AA Change: S132R
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144392
Gene: ENSMUSG00000039959
AA Change: S132R
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
4 |
126 |
4.8e-42 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202236
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212301
AA Change: S141R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
T |
G |
6: 85,599,949 (GRCm39) |
S1592A |
possibly damaging |
Het |
| Anapc16 |
G |
T |
10: 59,832,298 (GRCm39) |
Y38* |
probably null |
Het |
| Clec7a |
T |
A |
6: 129,444,532 (GRCm39) |
H101L |
probably benign |
Het |
| Cwf19l2 |
A |
G |
9: 3,430,661 (GRCm39) |
D331G |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,731,376 (GRCm39) |
T618A |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fn1 |
A |
T |
1: 71,667,694 (GRCm39) |
D766E |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,121 (GRCm39) |
*395W |
probably null |
Het |
| Grik2 |
C |
T |
10: 49,411,532 (GRCm39) |
R202H |
probably damaging |
Het |
| Hcls1 |
G |
T |
16: 36,782,984 (GRCm39) |
S445I |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf9 |
T |
A |
1: 172,319,216 (GRCm39) |
S236R |
probably benign |
Het |
| Knl1 |
C |
T |
2: 118,902,708 (GRCm39) |
P1470S |
probably damaging |
Het |
| Ldb3 |
A |
T |
14: 34,251,432 (GRCm39) |
H675Q |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or10ag57 |
T |
A |
2: 87,218,195 (GRCm39) |
S49T |
probably benign |
Het |
| Or6c3b |
A |
G |
10: 129,527,812 (GRCm39) |
Y33H |
probably damaging |
Het |
| Palld |
T |
C |
8: 62,330,169 (GRCm39) |
D236G |
probably benign |
Het |
| Pank3 |
A |
G |
11: 35,674,333 (GRCm39) |
K332R |
probably benign |
Het |
| Phaf1 |
T |
A |
8: 105,973,132 (GRCm39) |
D247E |
possibly damaging |
Het |
| Pramel11 |
A |
G |
4: 143,623,790 (GRCm39) |
V128A |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,535,360 (GRCm39) |
|
probably benign |
Het |
| Ror2 |
C |
T |
13: 53,265,638 (GRCm39) |
G473S |
probably damaging |
Het |
| Shisal1 |
T |
A |
15: 84,301,400 (GRCm39) |
H81L |
probably damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,582,723 (GRCm39) |
Y222N |
probably damaging |
Het |
| Slc38a7 |
A |
T |
8: 96,570,468 (GRCm39) |
M269K |
probably damaging |
Het |
| Srrd |
A |
T |
5: 112,487,622 (GRCm39) |
L159H |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,427,775 (GRCm39) |
S218Y |
possibly damaging |
Het |
| Tex15 |
G |
A |
8: 34,072,540 (GRCm39) |
V2696I |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,651 (GRCm39) |
T1030I |
probably damaging |
Het |
| Traf5 |
T |
C |
1: 191,751,190 (GRCm39) |
|
probably null |
Het |
| Try4 |
C |
T |
6: 41,282,406 (GRCm39) |
T242I |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,791,518 (GRCm39) |
V191I |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,785,764 (GRCm39) |
Y747C |
probably damaging |
Het |
| Wipf3 |
C |
T |
6: 54,466,058 (GRCm39) |
P439S |
probably damaging |
Het |
| Zbed5 |
A |
T |
5: 129,931,592 (GRCm39) |
M514L |
probably benign |
Het |
| Zfp592 |
A |
G |
7: 80,691,361 (GRCm39) |
D1180G |
possibly damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,546,461 (GRCm39) |
D790E |
possibly damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,957,329 (GRCm39) |
K537R |
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 |
|
|
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'- TAGCAATAAGTGGCCCTGAGG -3'
(R):5'- GCAGTTTGTATCCACCCTGGTC -3'
Sequencing Primer
(F):5'- GCCCTGAGGACAAGTTACCTAG -3'
(R):5'- TAACACTCTCTACCCACTGA -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation