Incidental Mutation 'R9695:Hip1r'
ID |
729212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hip1r
|
Ensembl Gene |
ENSMUSG00000000915 |
Gene Name |
huntingtin interacting protein 1 related |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9695 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 124139916 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 1006
(K1006N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
[ENSMUST00000040967]
|
AlphaFold |
Q9JKY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000939
AA Change: K1006N
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000000939 Gene: ENSMUSG00000000915 AA Change: K1006N
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: ENSMUST00000040967
|
SMART Domains |
Protein: ENSMUSP00000047980 Gene: ENSMUSG00000066278
Domain | Start | End | E-Value | Type |
Pfam:Mod_r
|
11 |
156 |
3.9e-40 |
PFAM |
low complexity region
|
170 |
188 |
N/A |
INTRINSIC |
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
low complexity region
|
262 |
280 |
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 |
probably benign
Transcript: ENSMUST00000198664
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
C |
19: 57,170,739 (GRCm39) |
T1A |
|
Het |
Adgrl1 |
G |
A |
8: 84,665,060 (GRCm39) |
R1249Q |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,963,483 (GRCm39) |
R580C |
probably damaging |
Het |
Armc12 |
T |
A |
17: 28,749,993 (GRCm39) |
C46S |
probably benign |
Het |
Avpr1a |
C |
T |
10: 122,284,845 (GRCm39) |
R46C |
probably damaging |
Het |
Cbln4 |
C |
G |
2: 171,879,469 (GRCm39) |
G140R |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,076,552 (GRCm39) |
N254S |
probably benign |
Het |
Cd96 |
T |
A |
16: 45,919,410 (GRCm39) |
I204F |
probably damaging |
Het |
Cel |
G |
T |
2: 28,450,961 (GRCm39) |
L101I |
probably damaging |
Het |
Crtap |
A |
T |
9: 114,215,378 (GRCm39) |
Y170* |
probably null |
Het |
Ctxn3 |
A |
G |
18: 57,610,185 (GRCm39) |
M1V |
probably null |
Het |
Cwf19l1 |
G |
T |
19: 44,101,425 (GRCm39) |
H478N |
probably damaging |
Het |
Dpysl3 |
A |
T |
18: 43,571,192 (GRCm39) |
D27E |
probably damaging |
Het |
Dsg1b |
A |
G |
18: 20,532,389 (GRCm39) |
T478A |
probably damaging |
Het |
Dvl2 |
G |
A |
11: 69,899,976 (GRCm39) |
R590Q |
possibly damaging |
Het |
Elovl7 |
C |
A |
13: 108,416,242 (GRCm39) |
Q211K |
probably damaging |
Het |
Fech |
A |
G |
18: 64,600,803 (GRCm39) |
I233T |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,806,226 (GRCm39) |
Q848H |
probably benign |
Het |
Gna15 |
A |
G |
10: 81,359,752 (GRCm39) |
C13R |
probably damaging |
Het |
Gstt4 |
A |
T |
10: 75,657,072 (GRCm39) |
S65T |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,438,624 (GRCm39) |
V1353A |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,265,701 (GRCm39) |
V1804E |
probably damaging |
Het |
Ifi206 |
T |
C |
1: 173,301,249 (GRCm39) |
T810A |
unknown |
Het |
Ighv1-69 |
T |
C |
12: 115,586,987 (GRCm39) |
T49A |
probably benign |
Het |
Il4i1 |
A |
T |
7: 44,489,033 (GRCm39) |
D266V |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,946,520 (GRCm39) |
|
probably null |
Het |
Itpr1 |
A |
G |
6: 108,378,311 (GRCm39) |
N1279S |
probably damaging |
Het |
Madd |
T |
C |
2: 90,992,929 (GRCm39) |
T997A |
probably benign |
Het |
Mal |
C |
T |
2: 127,482,308 (GRCm39) |
V32I |
probably benign |
Het |
Map9 |
T |
A |
3: 82,284,292 (GRCm39) |
S289T |
probably benign |
Het |
Mmp15 |
G |
T |
8: 96,097,414 (GRCm39) |
R461L |
possibly damaging |
Het |
Nelfcd |
T |
A |
2: 174,266,923 (GRCm39) |
I395N |
probably benign |
Het |
Neurog2 |
T |
A |
3: 127,427,694 (GRCm39) |
V106E |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,538,486 (GRCm39) |
N761K |
probably damaging |
Het |
Oasl1 |
G |
A |
5: 115,074,054 (GRCm39) |
R321Q |
probably damaging |
Het |
Oosp2 |
T |
C |
19: 11,628,994 (GRCm39) |
T36A |
|
Het |
Or2a52 |
A |
T |
6: 43,144,510 (GRCm39) |
I173L |
probably benign |
Het |
Or7g22 |
A |
G |
9: 19,049,171 (GRCm39) |
N294S |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,339,100 (GRCm39) |
V99A |
probably benign |
Het |
Or9s27 |
A |
G |
1: 92,516,595 (GRCm39) |
D181G |
probably benign |
Het |
Otx2 |
T |
G |
14: 48,899,952 (GRCm39) |
S16R |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,349,908 (GRCm39) |
S39P |
unknown |
Het |
Piwil2 |
A |
G |
14: 70,627,349 (GRCm39) |
Y797H |
possibly damaging |
Het |
Plxna4 |
T |
G |
6: 32,183,056 (GRCm39) |
Y949S |
probably benign |
Het |
Prss35 |
A |
G |
9: 86,637,761 (GRCm39) |
Y177C |
probably damaging |
Het |
Rbm19 |
T |
C |
5: 120,335,986 (GRCm39) |
I934T |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,816,010 (GRCm39) |
V1094G |
probably benign |
Het |
Riok1 |
A |
G |
13: 38,242,676 (GRCm39) |
T467A |
possibly damaging |
Het |
Slc15a4 |
G |
A |
5: 127,694,400 (GRCm39) |
R12W |
possibly damaging |
Het |
Slc44a5 |
T |
A |
3: 153,956,588 (GRCm39) |
I280K |
probably damaging |
Het |
Slc9c1 |
T |
C |
16: 45,368,026 (GRCm39) |
L205S |
probably benign |
Het |
Slco2a1 |
A |
G |
9: 102,962,139 (GRCm39) |
R604G |
possibly damaging |
Het |
Slmap |
T |
A |
14: 26,183,496 (GRCm39) |
T296S |
probably damaging |
Het |
Snrk |
T |
C |
9: 121,995,640 (GRCm39) |
V473A |
probably benign |
Het |
Spart |
A |
G |
3: 55,033,955 (GRCm39) |
T394A |
probably benign |
Het |
Stil |
T |
C |
4: 114,881,378 (GRCm39) |
S641P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,268,461 (GRCm39) |
V2076A |
probably benign |
Het |
Tcirg1 |
G |
A |
19: 3,952,360 (GRCm39) |
A336V |
probably null |
Het |
Tespa1 |
T |
C |
10: 130,198,285 (GRCm39) |
S436P |
probably benign |
Het |
Thumpd3 |
G |
T |
6: 113,024,622 (GRCm39) |
R72L |
possibly damaging |
Het |
Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
Vars1 |
A |
G |
17: 35,231,564 (GRCm39) |
D696G |
possibly damaging |
Het |
Vwa5b2 |
A |
T |
16: 20,422,975 (GRCm39) |
H991L |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,245,746 (GRCm39) |
K99E |
possibly damaging |
Het |
Zfp759 |
G |
A |
13: 67,287,198 (GRCm39) |
V250I |
possibly damaging |
Het |
Zmym6 |
T |
C |
4: 127,016,340 (GRCm39) |
V707A |
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 |
R0799:Hip1r
|
UTSW |
5 |
124,135,004 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- GCCTGTCCCTCATCAAGTTG -3'
(R):5'- ATGTATAATCCGAGGGTAGCCC -3'
Sequencing Primer
(F):5'- CTGTCCCTCATCAAGTTGAAGAAG -3'
(R):5'- ACCCCTGGCAAGCTCTC -3'
|
Posted On |
2022-10-06 |