Incidental Mutation 'IGL02745:Hip1r'
| ID |
306137 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hip1r
|
| Ensembl Gene |
ENSMUSG00000000915 |
| Gene Name |
huntingtin interacting protein 1 related |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02745
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 124129002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
[ENSMUST00000167879]
|
| AlphaFold |
Q9JKY5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000939
|
| SMART Domains |
Protein: ENSMUSP00000000939
Gene: ENSMUSG00000000915
| 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 |
probably benign
Transcript: ENSMUST00000167879
|
| SMART Domains |
Protein: ENSMUSP00000127361
Gene: ENSMUSG00000000915
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANTH
|
29 |
117 |
1.3e-29 |
PFAM |
|
Pfam:ENTH
|
30 |
117 |
6.1e-10 |
PFAM |
|
| Coding Region Coverage |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
C |
15: 83,112,282 (GRCm39) |
E167G |
probably benign |
Het |
| Aldh1a1 |
A |
G |
19: 20,614,028 (GRCm39) |
|
probably benign |
Het |
| Ankrd44 |
T |
C |
1: 54,805,950 (GRCm39) |
H152R |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,789,141 (GRCm39) |
L316Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,987,256 (GRCm39) |
L155I |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,170 (GRCm39) |
C98S |
probably damaging |
Het |
| Clnk |
A |
G |
5: 38,893,662 (GRCm39) |
S232P |
probably benign |
Het |
| Csf3 |
A |
G |
11: 98,593,303 (GRCm39) |
D140G |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,234,189 (GRCm39) |
|
probably benign |
Het |
| Fetub |
T |
C |
16: 22,756,676 (GRCm39) |
V259A |
probably damaging |
Het |
| Gga2 |
G |
T |
7: 121,607,592 (GRCm39) |
R108S |
probably damaging |
Het |
| Hsd17b3 |
A |
G |
13: 64,234,990 (GRCm39) |
F62L |
probably benign |
Het |
| Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
| Man1a |
C |
T |
10: 53,853,206 (GRCm39) |
R304Q |
probably damaging |
Het |
| Med17 |
A |
G |
9: 15,176,642 (GRCm39) |
|
probably benign |
Het |
| Mrgprb4 |
T |
C |
7: 47,848,106 (GRCm39) |
Y274C |
probably damaging |
Het |
| Myh8 |
C |
T |
11: 67,188,327 (GRCm39) |
T996I |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 72,057,682 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
A |
7: 23,020,716 (GRCm39) |
L401Q |
probably damaging |
Het |
| Oas1h |
G |
A |
5: 120,999,542 (GRCm39) |
R9Q |
probably benign |
Het |
| Or4c111 |
A |
G |
2: 88,844,232 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or4d10b |
C |
T |
19: 12,036,565 (GRCm39) |
V184I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,609,494 (GRCm39) |
H56R |
probably damaging |
Het |
| Otor |
A |
G |
2: 142,923,076 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,710,340 (GRCm39) |
Q325L |
probably damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,852 (GRCm39) |
|
probably benign |
Het |
| Pramel16 |
A |
T |
4: 143,677,294 (GRCm39) |
L95Q |
probably damaging |
Het |
| Prlr |
T |
A |
15: 10,328,680 (GRCm39) |
I385N |
possibly damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,662,002 (GRCm39) |
V418A |
probably damaging |
Het |
| Rdh1 |
A |
T |
10: 127,601,288 (GRCm39) |
T279S |
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,026,469 (GRCm39) |
Q13K |
probably benign |
Het |
| Slc22a20 |
T |
C |
19: 6,022,901 (GRCm39) |
N414S |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,247,093 (GRCm39) |
C498F |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,813,326 (GRCm39) |
G394S |
probably damaging |
Het |
| Ssh2 |
C |
T |
11: 77,346,233 (GRCm39) |
T1406I |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,059,321 (GRCm39) |
D561E |
probably damaging |
Het |
| Stxbp5l |
G |
A |
16: 37,007,016 (GRCm39) |
Q726* |
probably null |
Het |
| Synpo2 |
G |
A |
3: 122,907,261 (GRCm39) |
T685I |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,635,140 (GRCm39) |
S556T |
probably benign |
Het |
| Ttc27 |
A |
G |
17: 75,046,728 (GRCm39) |
D263G |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,594,332 (GRCm39) |
P18793S |
possibly damaging |
Het |
| Vmn2r109 |
A |
G |
17: 20,761,512 (GRCm39) |
V615A |
probably damaging |
Het |
| Vmn2r76 |
T |
G |
7: 85,879,495 (GRCm39) |
K268N |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,884,487 (GRCm39) |
|
probably benign |
Het |
| Zfp286 |
C |
A |
11: 62,671,700 (GRCm39) |
K124N |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation