Incidental Mutation 'R0799:Hip1r'
| ID |
76523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hip1r
|
| Ensembl Gene |
ENSMUSG00000000915 |
| Gene Name |
huntingtin interacting protein 1 related |
| Synonyms |
|
| MMRRC Submission |
038979-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0799 (G1)
|
| Quality Score |
203 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 124135004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 380
(Y380C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
|
| AlphaFold |
Q9JKY5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000939
AA Change: Y380C
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
AA Change: Y380C
| Domain | Start | End | E-Value | Type |
|---|
|
ENTH
|
29 |
151 |
5.27e-40 |
SMART |
|
low complexity region
|
301 |
321 |
N/A |
INTRINSIC |
|
PDB:3I00|B
|
340 |
458 |
1e-21 |
PDB |
|
Pfam:HIP1_clath_bdg
|
461 |
559 |
1.1e-34 |
PFAM |
|
low complexity region
|
627 |
633 |
N/A |
INTRINSIC |
|
ILWEQ
|
814 |
1012 |
9.19e-121 |
SMART |
|
low complexity region
|
1016 |
1035 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166258
|
| SMART Domains |
Protein: ENSMUSP00000130766
Gene: ENSMUSG00000000915
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANTH
|
1 |
79 |
3.5e-19 |
PFAM |
|
low complexity region
|
80 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185154
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198664
|
| Meta Mutation Damage Score |
0.0853 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.9%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,100,101 (GRCm39) |
T33I |
possibly damaging |
Het |
| 4930555F03Rik |
A |
G |
8: 49,948,474 (GRCm39) |
|
noncoding transcript |
Het |
| Abcf3 |
T |
C |
16: 20,378,084 (GRCm39) |
L538P |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,779 (GRCm39) |
S321P |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,602,523 (GRCm39) |
R362H |
probably damaging |
Het |
| AI597479 |
T |
G |
1: 43,150,330 (GRCm39) |
S147A |
probably benign |
Het |
| Ajm1 |
A |
G |
2: 25,468,574 (GRCm39) |
S446P |
possibly damaging |
Het |
| Ampd3 |
T |
C |
7: 110,399,904 (GRCm39) |
F340L |
probably damaging |
Het |
| Atad3a |
A |
G |
4: 155,831,927 (GRCm39) |
V449A |
probably damaging |
Het |
| Bmal2 |
T |
C |
6: 146,724,751 (GRCm39) |
|
probably benign |
Het |
| Bpifa6 |
A |
T |
2: 153,834,192 (GRCm39) |
D328V |
probably benign |
Het |
| Brca2 |
T |
C |
5: 150,483,658 (GRCm39) |
S2903P |
probably damaging |
Het |
| Cct3 |
A |
T |
3: 88,206,652 (GRCm39) |
|
probably null |
Het |
| Cdk4 |
A |
G |
10: 126,900,863 (GRCm39) |
T172A |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,468,616 (GRCm39) |
D1760G |
probably damaging |
Het |
| Chd7 |
A |
G |
4: 8,801,310 (GRCm39) |
|
probably benign |
Het |
| Crybb2 |
T |
C |
5: 113,210,037 (GRCm39) |
I109V |
probably benign |
Het |
| Csmd3 |
A |
G |
15: 48,048,780 (GRCm39) |
|
probably benign |
Het |
| Dach1 |
G |
T |
14: 98,406,051 (GRCm39) |
T232K |
possibly damaging |
Het |
| Dnlz |
A |
G |
2: 26,241,485 (GRCm39) |
V81A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,086,003 (GRCm39) |
S191P |
probably damaging |
Het |
| Eps15l1 |
C |
T |
8: 73,099,929 (GRCm39) |
D821N |
probably damaging |
Het |
| Fam186a |
G |
A |
15: 99,839,893 (GRCm39) |
P2117L |
probably damaging |
Het |
| Fam83d |
T |
A |
2: 158,621,808 (GRCm39) |
F173Y |
probably damaging |
Het |
| Gm9116 |
A |
T |
3: 93,817,772 (GRCm39) |
R214S |
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,600,401 (GRCm39) |
I445V |
probably damaging |
Het |
| H2-M2 |
G |
A |
17: 37,793,640 (GRCm39) |
T122I |
probably damaging |
Het |
| Hgd |
C |
T |
16: 37,448,971 (GRCm39) |
|
probably benign |
Het |
| Hspa8 |
G |
A |
9: 40,715,137 (GRCm39) |
G389R |
probably damaging |
Het |
| Htt |
C |
A |
5: 34,975,097 (GRCm39) |
D622E |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,004,189 (GRCm39) |
|
probably null |
Het |
| Map3k9 |
G |
A |
12: 81,769,043 (GRCm39) |
P1025S |
probably benign |
Het |
| Or8b47 |
G |
A |
9: 38,435,437 (GRCm39) |
M136I |
probably benign |
Het |
| Pabpc1l |
C |
A |
2: 163,873,134 (GRCm39) |
H135N |
probably benign |
Het |
| Pacsin2 |
A |
T |
15: 83,263,998 (GRCm39) |
S346R |
probably benign |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,938 (GRCm39) |
Y488C |
probably damaging |
Het |
| Pkdcc |
G |
A |
17: 83,531,347 (GRCm39) |
C452Y |
probably damaging |
Het |
| Poglut1 |
T |
C |
16: 38,355,083 (GRCm39) |
|
probably null |
Het |
| Prss59 |
A |
G |
6: 40,905,533 (GRCm39) |
M41T |
probably damaging |
Het |
| Pxk |
T |
C |
14: 8,148,123 (GRCm38) |
F409L |
probably benign |
Het |
| Pygm |
G |
A |
19: 6,436,048 (GRCm39) |
|
probably benign |
Het |
| Rabep2 |
T |
C |
7: 126,037,896 (GRCm39) |
S223P |
probably damaging |
Het |
| Rpp40 |
C |
T |
13: 36,086,034 (GRCm39) |
R109H |
probably benign |
Het |
| Sbf2 |
T |
C |
7: 109,940,562 (GRCm39) |
Y1266C |
possibly damaging |
Het |
| Slc5a4a |
T |
C |
10: 76,012,368 (GRCm39) |
V346A |
probably benign |
Het |
| Smpd3 |
G |
T |
8: 106,991,421 (GRCm39) |
H377Q |
possibly damaging |
Het |
| Sppl2a |
C |
A |
2: 126,762,227 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,385 (GRCm39) |
I288T |
probably benign |
Het |
| Trim35 |
T |
A |
14: 66,546,650 (GRCm39) |
H472Q |
probably damaging |
Het |
| Trpm5 |
C |
A |
7: 142,632,088 (GRCm39) |
R907L |
probably damaging |
Het |
| Ube2e2 |
G |
T |
14: 18,630,393 (GRCm38) |
S56* |
probably null |
Het |
| Vmn2r88 |
A |
C |
14: 51,651,959 (GRCm39) |
R432S |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,102 (GRCm39) |
Y279C |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,079,104 (GRCm39) |
V246A |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,871,818 (GRCm39) |
N385K |
probably benign |
Het |
| Zfp28 |
T |
A |
7: 6,387,182 (GRCm39) |
S73T |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,314,271 (GRCm39) |
E422G |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,684,709 (GRCm39) |
E26G |
probably benign |
Het |
|
| Other mutations in Hip1r |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Hip1r
|
APN |
5 |
124,127,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01771:Hip1r
|
APN |
5 |
124,137,606 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01804:Hip1r
|
APN |
5 |
124,139,613 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02100:Hip1r
|
APN |
5 |
124,137,006 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02139:Hip1r
|
APN |
5 |
124,134,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Hip1r
|
APN |
5 |
124,137,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02562:Hip1r
|
APN |
5 |
124,129,586 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02745:Hip1r
|
APN |
5 |
124,129,002 (GRCm39) |
splice site |
probably null |
|
|
IGL02798:Hip1r
|
APN |
5 |
124,132,775 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03365:Hip1r
|
APN |
5 |
124,138,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Hip1r
|
UTSW |
5 |
124,135,003 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0546:Hip1r
|
UTSW |
5 |
124,137,114 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1588:Hip1r
|
UTSW |
5 |
124,134,638 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1590:Hip1r
|
UTSW |
5 |
124,140,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1675:Hip1r
|
UTSW |
5 |
124,132,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Hip1r
|
UTSW |
5 |
124,136,871 (GRCm39) |
missense |
probably benign |
|
|
R1818:Hip1r
|
UTSW |
5 |
124,134,018 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1852:Hip1r
|
UTSW |
5 |
124,129,568 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1936:Hip1r
|
UTSW |
5 |
124,134,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1954:Hip1r
|
UTSW |
5 |
124,139,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1989:Hip1r
|
UTSW |
5 |
124,127,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2045:Hip1r
|
UTSW |
5 |
124,138,794 (GRCm39) |
missense |
probably benign |
|
|
R2105:Hip1r
|
UTSW |
5 |
124,138,267 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2414:Hip1r
|
UTSW |
5 |
124,139,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2909:Hip1r
|
UTSW |
5 |
124,138,656 (GRCm39) |
splice site |
probably null |
|
|
R3125:Hip1r
|
UTSW |
5 |
124,138,204 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3401:Hip1r
|
UTSW |
5 |
124,135,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3402:Hip1r
|
UTSW |
5 |
124,135,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:Hip1r
|
UTSW |
5 |
124,139,854 (GRCm39) |
nonsense |
probably null |
|
|
R4212:Hip1r
|
UTSW |
5 |
124,137,953 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4421:Hip1r
|
UTSW |
5 |
124,135,925 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4422:Hip1r
|
UTSW |
5 |
124,135,069 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4713:Hip1r
|
UTSW |
5 |
124,128,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6837:Hip1r
|
UTSW |
5 |
124,136,928 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7171:Hip1r
|
UTSW |
5 |
124,134,007 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7212:Hip1r
|
UTSW |
5 |
124,111,845 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7251:Hip1r
|
UTSW |
5 |
124,132,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Hip1r
|
UTSW |
5 |
124,137,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7432:Hip1r
|
UTSW |
5 |
124,129,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7592:Hip1r
|
UTSW |
5 |
124,136,036 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7708:Hip1r
|
UTSW |
5 |
124,135,532 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7773:Hip1r
|
UTSW |
5 |
124,139,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8132:Hip1r
|
UTSW |
5 |
124,135,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8804:Hip1r
|
UTSW |
5 |
124,139,575 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8882:Hip1r
|
UTSW |
5 |
124,140,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Hip1r
|
UTSW |
5 |
124,139,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9650:Hip1r
|
UTSW |
5 |
124,135,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9695:Hip1r
|
UTSW |
5 |
124,139,916 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1088:Hip1r
|
UTSW |
5 |
124,137,195 (GRCm39) |
splice site |
probably null |
|
|
Z1176:Hip1r
|
UTSW |
5 |
124,135,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAATGGCTCCATGAAGGATGAC -3'
(R):5'- TTCCTCTCGAAGGCCCTGGTTG -3'
Sequencing Primer
(F):5'- ACTGCTAGTGACATCTGAGATCC -3'
(R):5'- TTGTCCACCAGGGCCTT -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation