Incidental Mutation 'R7773:Hip1r'
ID |
598703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hip1r
|
Ensembl Gene |
ENSMUSG00000000915 |
Gene Name |
huntingtin interacting protein 1 related |
Synonyms |
|
MMRRC Submission |
045829-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 124139504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 928
(N928S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
[ENSMUST00000040967]
|
AlphaFold |
Q9JKY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000939
AA Change: N928S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000000939 Gene: ENSMUSG00000000915 AA Change: N928S
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
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (55/56) |
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 |
1700006A11Rik |
A |
G |
3: 124,206,180 (GRCm39) |
I336T |
probably benign |
Het |
4930519P11Rik |
T |
C |
2: 154,455,107 (GRCm39) |
Y84C |
unknown |
Het |
4930568D16Rik |
C |
T |
2: 35,244,606 (GRCm39) |
G249S |
probably damaging |
Het |
AAdacl4fm3 |
A |
T |
4: 144,430,047 (GRCm39) |
L314Q |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Agbl1 |
T |
A |
7: 76,348,585 (GRCm39) |
V894E |
unknown |
Het |
Amigo3 |
T |
C |
9: 107,931,867 (GRCm39) |
L430P |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,883,146 (GRCm39) |
I341V |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,990,055 (GRCm39) |
S223P |
probably benign |
Het |
Cacnb3 |
T |
C |
15: 98,537,819 (GRCm39) |
|
probably null |
Het |
Ccdc63 |
G |
T |
5: 122,247,335 (GRCm39) |
N503K |
probably damaging |
Het |
Ccdc83 |
T |
A |
7: 89,879,120 (GRCm39) |
I225F |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,050 (GRCm39) |
T90A |
possibly damaging |
Het |
Cd8a |
A |
G |
6: 71,350,799 (GRCm39) |
N88S |
probably benign |
Het |
Cep170 |
A |
G |
1: 176,567,642 (GRCm39) |
V152A |
|
Het |
Chid1 |
T |
C |
7: 141,109,518 (GRCm39) |
M123V |
probably benign |
Het |
Cnnm4 |
T |
C |
1: 36,538,603 (GRCm39) |
V595A |
probably benign |
Het |
Coro7 |
A |
G |
16: 4,449,870 (GRCm39) |
L630P |
probably damaging |
Het |
Cpvl |
A |
G |
6: 53,908,890 (GRCm39) |
|
probably null |
Het |
Edem3 |
A |
T |
1: 151,687,347 (GRCm39) |
K762* |
probably null |
Het |
Elp6 |
T |
A |
9: 110,141,627 (GRCm39) |
|
probably null |
Het |
Emilin3 |
A |
T |
2: 160,752,718 (GRCm39) |
Y77* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,220,912 (GRCm39) |
I641N |
probably benign |
Het |
Farsa |
T |
C |
8: 85,590,781 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
C |
13: 31,811,182 (GRCm39) |
S374P |
probably benign |
Het |
Gm11596 |
A |
T |
11: 99,683,667 (GRCm39) |
I151N |
unknown |
Het |
Gm9817 |
C |
T |
13: 45,232,427 (GRCm39) |
Q77* |
probably null |
Het |
Gon4l |
A |
G |
3: 88,803,102 (GRCm39) |
K1238E |
probably benign |
Het |
H13 |
A |
G |
2: 152,537,431 (GRCm39) |
Y292C |
probably damaging |
Het |
Iqcf4 |
T |
C |
9: 106,445,812 (GRCm39) |
N112D |
probably benign |
Het |
Jak3 |
A |
C |
8: 72,131,686 (GRCm39) |
T125P |
probably benign |
Het |
Krt7 |
A |
C |
15: 101,311,913 (GRCm39) |
K124Q |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,114,169 (GRCm39) |
N83D |
probably damaging |
Het |
Lrrc66 |
G |
A |
5: 73,764,664 (GRCm39) |
S793F |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,485,840 (GRCm39) |
V1074I |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,954,581 (GRCm39) |
D657G |
probably benign |
Het |
Nt5el |
A |
G |
13: 105,218,793 (GRCm39) |
I42M |
probably damaging |
Het |
Or5b113 |
T |
A |
19: 13,342,598 (GRCm39) |
V202E |
probably benign |
Het |
Or8k21 |
T |
C |
2: 86,145,034 (GRCm39) |
I199V |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,941,548 (GRCm39) |
S24G |
probably benign |
Het |
Pcm1 |
G |
T |
8: 41,762,610 (GRCm39) |
E1385* |
probably null |
Het |
Poc5 |
A |
G |
13: 96,547,143 (GRCm39) |
T469A |
probably damaging |
Het |
Ppp3ca |
A |
G |
3: 136,596,222 (GRCm39) |
T296A |
probably benign |
Het |
Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rnf149 |
A |
C |
1: 39,604,299 (GRCm39) |
M188R |
possibly damaging |
Het |
Rpl10l |
T |
C |
12: 66,331,041 (GRCm39) |
I31V |
probably benign |
Het |
Serinc5 |
T |
C |
13: 92,797,592 (GRCm39) |
S32P |
probably damaging |
Het |
Sirt1 |
T |
A |
10: 63,162,562 (GRCm39) |
K137M |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,923,496 (GRCm39) |
Y251C |
probably damaging |
Het |
Sod3 |
A |
C |
5: 52,525,643 (GRCm39) |
E114A |
possibly damaging |
Het |
Tgfbr3 |
A |
G |
5: 107,288,368 (GRCm39) |
V431A |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,757,836 (GRCm39) |
S210P |
probably damaging |
Het |
Trub2 |
G |
T |
2: 29,676,520 (GRCm39) |
T70N |
probably benign |
Het |
Tsga10 |
A |
T |
1: 37,874,323 (GRCm39) |
C159S |
unknown |
Het |
Vmn1r15 |
A |
T |
6: 57,235,644 (GRCm39) |
I171F |
probably benign |
Het |
Vmn2r50 |
T |
A |
7: 9,771,562 (GRCm39) |
H713L |
possibly damaging |
Het |
Zcchc14 |
T |
C |
8: 122,378,514 (GRCm39) |
S43G |
unknown |
Het |
Zfp638 |
T |
C |
6: 83,956,196 (GRCm39) |
I1601T |
probably damaging |
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 |
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'- AGGAACTCATCGTCTGCTCC -3'
(R):5'- GAGAAATCCATGGTGTCTGTGG -3'
Sequencing Primer
(F):5'- TGCTCCCATGAGATTGCG -3'
(R):5'- AAATCCATGGTGTCTGTGGTCAGG -3'
|
Posted On |
2019-11-26 |