Incidental Mutation 'R9650:Hip1r'
| ID |
727026 |
| 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 # |
R9650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124111665-124141278 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 124135357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000939]
|
| 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: ENSMUST00000198664
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,071,446 (GRCm39) |
N1469Y |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,682 (GRCm39) |
N211K |
probably benign |
Het |
| Adam33 |
C |
T |
2: 130,894,989 (GRCm39) |
V690M |
possibly damaging |
Het |
| Agap2 |
G |
A |
10: 126,927,653 (GRCm39) |
R1178H |
unknown |
Het |
| Ank2 |
T |
A |
3: 126,735,829 (GRCm39) |
T3352S |
unknown |
Het |
| BC005537 |
T |
A |
13: 24,986,122 (GRCm39) |
D7E |
unknown |
Het |
| Bptf |
T |
C |
11: 106,935,412 (GRCm39) |
M142V |
probably benign |
Het |
| Cox15 |
A |
G |
19: 43,735,318 (GRCm39) |
Y150H |
probably benign |
Het |
| Cpq |
A |
T |
15: 33,497,405 (GRCm39) |
I382F |
possibly damaging |
Het |
| Cps1 |
T |
C |
1: 67,254,636 (GRCm39) |
F1275S |
|
Het |
| Cs |
T |
A |
10: 128,196,856 (GRCm39) |
M417K |
probably benign |
Het |
| Cyp2b19 |
G |
A |
7: 26,466,208 (GRCm39) |
R337Q |
possibly damaging |
Het |
| Dmgdh |
A |
T |
13: 93,845,333 (GRCm39) |
Y442F |
probably benign |
Het |
| Dync2h1 |
A |
T |
9: 7,174,849 (GRCm39) |
D131E |
possibly damaging |
Het |
| Epb41l2 |
A |
G |
10: 25,369,495 (GRCm39) |
I605V |
probably benign |
Het |
| Evc |
G |
A |
5: 37,458,162 (GRCm39) |
P963L |
probably damaging |
Het |
| Evl |
C |
A |
12: 108,641,698 (GRCm39) |
T160N |
probably benign |
Het |
| Fam76a |
T |
C |
4: 132,629,387 (GRCm39) |
Y255C |
probably damaging |
Het |
| Fras1 |
G |
T |
5: 96,910,387 (GRCm39) |
R3272L |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,369,375 (GRCm39) |
V2283A |
probably damaging |
Het |
| Fzd6 |
A |
G |
15: 38,894,941 (GRCm39) |
Y369C |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,425,354 (GRCm39) |
S449P |
probably damaging |
Het |
| Ighv1-34 |
G |
T |
12: 114,814,885 (GRCm39) |
D92E |
possibly damaging |
Het |
| Iigp1c |
T |
G |
18: 60,379,470 (GRCm39) |
V335G |
probably damaging |
Het |
| Ino80 |
C |
T |
2: 119,277,464 (GRCm39) |
R337Q |
probably damaging |
Het |
| Itgax |
T |
C |
7: 127,734,935 (GRCm39) |
I422T |
probably benign |
Het |
| Itk |
A |
T |
11: 46,222,778 (GRCm39) |
Y564N |
probably damaging |
Het |
| Kcnh5 |
A |
C |
12: 75,023,293 (GRCm39) |
S592A |
probably benign |
Het |
| Klhl40 |
T |
A |
9: 121,609,083 (GRCm39) |
V416E |
possibly damaging |
Het |
| Lhfpl4 |
T |
C |
6: 113,171,147 (GRCm39) |
E13G |
probably benign |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,553,762 (GRCm39) |
M4177K |
unknown |
Het |
| Ngef |
T |
A |
1: 87,415,552 (GRCm39) |
T371S |
possibly damaging |
Het |
| Nutm2 |
A |
T |
13: 50,623,755 (GRCm39) |
T151S |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,818,006 (GRCm39) |
L180* |
probably null |
Het |
| Or51f2 |
T |
C |
7: 102,526,987 (GRCm39) |
I220T |
probably damaging |
Het |
| Pate13 |
A |
C |
9: 35,820,799 (GRCm39) |
M84L |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,519 (GRCm39) |
I525K |
probably benign |
Het |
| Pcx |
C |
T |
19: 4,657,714 (GRCm39) |
R394C |
probably damaging |
Het |
| Pnmt |
A |
T |
11: 98,278,262 (GRCm39) |
D112V |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,665,337 (GRCm39) |
T69I |
probably damaging |
Het |
| Rrp7a |
A |
T |
15: 83,004,091 (GRCm39) |
|
probably null |
Het |
| Senp1 |
A |
T |
15: 97,946,248 (GRCm39) |
M499K |
probably damaging |
Het |
| Serpina3f |
G |
A |
12: 104,186,519 (GRCm39) |
A362T |
possibly damaging |
Het |
| Slc29a3 |
T |
A |
10: 60,586,302 (GRCm39) |
I55F |
possibly damaging |
Het |
| Stab2 |
ACC |
AC |
10: 86,692,561 (GRCm39) |
|
probably null |
Het |
| Tln1 |
G |
A |
4: 43,545,912 (GRCm39) |
T901I |
probably damaging |
Het |
| Tmem102 |
T |
C |
11: 69,695,869 (GRCm39) |
K64R |
probably benign |
Het |
| Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,930,629 (GRCm39) |
V2105I |
probably damaging |
Het |
| Traf2 |
A |
C |
2: 25,410,454 (GRCm39) |
C391W |
probably damaging |
Het |
| Tubgcp3 |
A |
G |
8: 12,705,974 (GRCm39) |
S183P |
probably benign |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
C |
A |
9: 44,000,476 (GRCm39) |
N288K |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,613,929 (GRCm39) |
T381A |
probably benign |
Het |
| Vil1 |
C |
T |
1: 74,464,775 (GRCm39) |
P474L |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,457 (GRCm39) |
N185K |
unknown |
Het |
| Zfp865 |
A |
G |
7: 5,037,683 (GRCm39) |
M45V |
unknown |
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 |
|
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'- AGCAGAGAGTGTGTACCTCTGG -3'
(R):5'- TGAGCTTCTCCAACTGGTCG -3'
Sequencing Primer
(F):5'- GTGTACCTCTGGGGCGG -3'
(R):5'- TCCATCTAGGACAGGCCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation