Incidental Mutation 'R8882:Hip1r'
ID |
676970 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hip1r
|
Ensembl Gene |
ENSMUSG00000000915 |
Gene Name |
huntingtin interacting protein 1 related |
Synonyms |
|
MMRRC Submission |
068750-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8882 (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 124140025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1043
(K1043E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
[ENSMUST00000040967]
|
AlphaFold |
Q9JKY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000939
AA Change: K1043E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000939 Gene: ENSMUSG00000000915 AA Change: K1043E
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: 99.5%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
A |
T |
13: 111,392,033 (GRCm39) |
I123L |
probably benign |
Het |
Adam18 |
T |
C |
8: 25,136,438 (GRCm39) |
D361G |
probably benign |
Het |
Adcyap1r1 |
G |
A |
6: 55,468,219 (GRCm39) |
V352M |
possibly damaging |
Het |
Ahnak |
T |
C |
19: 8,978,106 (GRCm39) |
L75P |
probably damaging |
Het |
Arhgap23 |
T |
C |
11: 97,355,949 (GRCm39) |
S856P |
probably benign |
Het |
Asprv1 |
G |
T |
6: 86,605,349 (GRCm39) |
C65F |
probably benign |
Het |
Atp2b4 |
A |
T |
1: 133,654,193 (GRCm39) |
|
probably null |
Het |
Cd55 |
A |
G |
1: 130,387,501 (GRCm39) |
V99A |
probably benign |
Het |
Cit |
G |
A |
5: 116,001,089 (GRCm39) |
A163T |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,155,481 (GRCm39) |
D711E |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,094,411 (GRCm39) |
V41E |
probably damaging |
Het |
Dock2 |
GCACACACACA |
GCACACACACACA |
11: 34,595,436 (GRCm39) |
453 |
probably null |
Het |
Dst |
T |
C |
1: 34,240,005 (GRCm39) |
S1785P |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,712 (GRCm39) |
V199A |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,202,909 (GRCm39) |
G498D |
probably damaging |
Het |
Fbxo11 |
A |
G |
17: 88,304,957 (GRCm39) |
I562T |
|
Het |
Fh1 |
C |
T |
1: 175,437,353 (GRCm39) |
V249I |
possibly damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,704 (GRCm39) |
I245T |
possibly damaging |
Het |
Hinfp |
A |
G |
9: 44,209,629 (GRCm39) |
|
probably null |
Het |
Htt |
G |
A |
5: 34,979,061 (GRCm39) |
V815I |
probably benign |
Het |
Jrk |
A |
G |
15: 74,579,004 (GRCm39) |
Y94H |
probably damaging |
Het |
Krit1 |
T |
A |
5: 3,886,864 (GRCm39) |
N704K |
possibly damaging |
Het |
Mmp17 |
A |
G |
5: 129,679,008 (GRCm39) |
D331G |
probably benign |
Het |
Nlrp9a |
T |
A |
7: 26,257,703 (GRCm39) |
Y440* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,882,793 (GRCm39) |
T216A |
possibly damaging |
Het |
Or1e1f |
T |
G |
11: 73,855,940 (GRCm39) |
C169G |
probably damaging |
Het |
Or4a79 |
G |
T |
2: 89,551,740 (GRCm39) |
C238* |
probably null |
Het |
Or5ae2 |
T |
C |
7: 84,505,681 (GRCm39) |
Y37H |
probably damaging |
Het |
Or7e176 |
T |
C |
9: 20,171,256 (GRCm39) |
F40S |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,461 (GRCm39) |
Y35* |
probably null |
Het |
Parva |
T |
C |
7: 112,027,211 (GRCm39) |
S14P |
probably benign |
Het |
Pax6 |
A |
C |
2: 105,521,963 (GRCm39) |
N207H |
possibly damaging |
Het |
Pde6a |
A |
G |
18: 61,378,619 (GRCm39) |
N314S |
|
Het |
Phlpp1 |
T |
A |
1: 106,320,372 (GRCm39) |
S1456T |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,677,428 (GRCm39) |
V933A |
probably damaging |
Het |
Rasgef1b |
A |
G |
5: 99,524,860 (GRCm39) |
S100P |
probably benign |
Het |
Rpn2 |
A |
G |
2: 157,136,102 (GRCm39) |
H170R |
probably benign |
Het |
Sbds |
A |
G |
5: 130,282,778 (GRCm39) |
|
probably null |
Het |
Scube2 |
G |
C |
7: 109,451,680 (GRCm39) |
L158V |
probably damaging |
Het |
Slc16a12 |
C |
A |
19: 34,649,854 (GRCm39) |
V394L |
probably benign |
Het |
Slc23a2 |
A |
T |
2: 131,933,159 (GRCm39) |
Y100N |
possibly damaging |
Het |
Slc30a9 |
G |
T |
5: 67,473,044 (GRCm39) |
E43* |
probably null |
Het |
Specc1l |
A |
T |
10: 75,065,689 (GRCm39) |
M1L |
unknown |
Het |
Sspo |
T |
A |
6: 48,452,390 (GRCm39) |
C2785S |
probably damaging |
Het |
Star |
T |
C |
8: 26,302,897 (GRCm39) |
S280P |
probably benign |
Het |
Strip1 |
A |
T |
3: 107,534,341 (GRCm39) |
M127K |
probably benign |
Het |
Tbx19 |
C |
T |
1: 164,966,780 (GRCm39) |
V365M |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,435,062 (GRCm39) |
D788G |
unknown |
Het |
Tspyl1 |
A |
G |
10: 34,158,494 (GRCm39) |
E73G |
possibly damaging |
Het |
Ulk2 |
C |
T |
11: 61,698,887 (GRCm39) |
|
probably null |
Het |
Vmn2r120 |
A |
T |
17: 57,852,229 (GRCm39) |
M29K |
probably benign |
Het |
Vmn2r60 |
C |
A |
7: 41,790,518 (GRCm39) |
Q502K |
probably benign |
Het |
Xpo5 |
A |
G |
17: 46,538,666 (GRCm39) |
D624G |
possibly damaging |
Het |
Zfp119b |
T |
C |
17: 56,246,923 (GRCm39) |
R88G |
possibly damaging |
Het |
Zfp879 |
C |
A |
11: 50,724,763 (GRCm39) |
E98* |
probably null |
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 |
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'- CTCATGAGCAGTGCTGAGTTGG -3'
(R):5'- AGTTGAGCTGGGTAGACACC -3'
Sequencing Primer
(F):5'- CCTGCAGGTGCGAGTCTTG -3'
(R):5'- GGTAGACACCATCCTTTTTGTCGAG -3'
|
Posted On |
2021-07-15 |