Incidental Mutation 'R0172:Hip1r'
ID |
24269 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hip1r
|
Ensembl Gene |
ENSMUSG00000000915 |
Gene Name |
huntingtin interacting protein 1 related |
Synonyms |
|
MMRRC Submission |
038444-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0172 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 124135003 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 380
(Y380N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
|
AlphaFold |
Q9JKY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000939
AA Change: Y380N
PolyPhen 2
Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000000939 Gene: ENSMUSG00000000915 AA Change: Y380N
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
Validation Efficiency |
82% (40/49) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
T |
A |
5: 138,645,578 (GRCm39) |
C488S |
probably damaging |
Het |
Abca12 |
T |
G |
1: 71,318,561 (GRCm39) |
D1814A |
probably damaging |
Het |
Acp7 |
T |
C |
7: 28,314,549 (GRCm39) |
N272S |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,811,888 (GRCm39) |
V1145A |
probably damaging |
Het |
Ap1m2 |
A |
T |
9: 21,209,628 (GRCm39) |
|
probably null |
Het |
Atp12a |
T |
C |
14: 56,610,301 (GRCm39) |
V224A |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,155,411 (GRCm39) |
E2253G |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,829,193 (GRCm39) |
N237S |
probably benign |
Het |
Crispld2 |
T |
C |
8: 120,752,810 (GRCm39) |
V286A |
possibly damaging |
Het |
Cyp2c65 |
G |
T |
19: 39,076,100 (GRCm39) |
V351L |
possibly damaging |
Het |
D130043K22Rik |
T |
C |
13: 25,056,389 (GRCm39) |
F574L |
probably benign |
Het |
Dag1 |
G |
A |
9: 108,086,031 (GRCm39) |
T370M |
possibly damaging |
Het |
Dmwd |
C |
T |
7: 18,814,267 (GRCm39) |
R306C |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,188 (GRCm39) |
Y3040C |
probably damaging |
Het |
Dst |
C |
A |
1: 34,309,935 (GRCm39) |
H1536Q |
probably damaging |
Het |
Eif3j1 |
A |
G |
2: 121,882,246 (GRCm39) |
I202V |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,070,574 (GRCm39) |
V2283D |
probably benign |
Het |
Evi5 |
T |
C |
5: 107,938,328 (GRCm39) |
N625S |
probably benign |
Het |
Exosc10 |
T |
C |
4: 148,649,814 (GRCm39) |
S415P |
probably benign |
Het |
F830016B08Rik |
G |
T |
18: 60,433,036 (GRCm39) |
D40Y |
possibly damaging |
Het |
Fam118a |
A |
G |
15: 84,929,951 (GRCm39) |
I60V |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,852,768 (GRCm39) |
M150K |
unknown |
Het |
Fam193a |
C |
T |
5: 34,622,957 (GRCm39) |
R1182W |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,771,187 (GRCm39) |
I181K |
possibly damaging |
Het |
Hivep2 |
C |
A |
10: 14,015,218 (GRCm39) |
P1795Q |
probably damaging |
Het |
Hnrnpab |
T |
C |
11: 51,493,494 (GRCm39) |
E238G |
probably damaging |
Het |
Kcnma1 |
C |
T |
14: 23,853,234 (GRCm39) |
A172T |
probably damaging |
Het |
Lipg |
G |
T |
18: 75,081,245 (GRCm39) |
H279N |
possibly damaging |
Het |
Lrrc9 |
A |
G |
12: 72,510,260 (GRCm39) |
D453G |
possibly damaging |
Het |
Map1s |
T |
A |
8: 71,367,612 (GRCm39) |
M839K |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Myo1h |
T |
A |
5: 114,467,225 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Nrn1 |
T |
C |
13: 36,914,544 (GRCm39) |
R19G |
probably benign |
Het |
Nwd2 |
T |
C |
5: 63,963,712 (GRCm39) |
Y1099H |
probably benign |
Het |
Nxpe2 |
G |
A |
9: 48,231,209 (GRCm39) |
R387C |
possibly damaging |
Het |
Or2a25 |
T |
C |
6: 42,888,913 (GRCm39) |
V152A |
probably benign |
Het |
Pappa2 |
C |
T |
1: 158,682,419 (GRCm39) |
|
probably null |
Het |
Pcdhb13 |
A |
T |
18: 37,575,990 (GRCm39) |
I123L |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,306,521 (GRCm39) |
T292A |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,358,111 (GRCm39) |
V469D |
probably damaging |
Het |
Pop4 |
T |
C |
7: 37,962,679 (GRCm39) |
Y195C |
probably damaging |
Het |
Rbsn |
A |
T |
6: 92,188,588 (GRCm39) |
D42E |
probably damaging |
Het |
Sclt1 |
A |
T |
3: 41,672,222 (GRCm39) |
I123N |
possibly damaging |
Het |
Slc22a27 |
C |
A |
19: 7,843,201 (GRCm39) |
G393* |
probably null |
Het |
Smu1 |
C |
T |
4: 40,738,439 (GRCm39) |
V432I |
probably benign |
Het |
Sohlh1 |
A |
G |
2: 25,736,215 (GRCm39) |
|
probably null |
Het |
Spta1 |
T |
A |
1: 174,058,352 (GRCm39) |
I1940K |
probably damaging |
Het |
Sufu |
G |
T |
19: 46,385,563 (GRCm39) |
V8F |
possibly damaging |
Het |
Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
Tmem184b |
A |
G |
15: 79,262,740 (GRCm39) |
V39A |
possibly damaging |
Het |
Tmem236 |
A |
G |
2: 14,223,694 (GRCm39) |
D161G |
probably benign |
Het |
Ufl1 |
T |
C |
4: 25,280,685 (GRCm39) |
K54R |
probably benign |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
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 |
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 |
|
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 |
2013-04-16 |