Incidental Mutation 'IGL03309:Hypk'
| ID |
416482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hypk
|
| Ensembl Gene |
ENSMUSG00000027245 |
| Gene Name |
huntingtin interacting protein K |
| Synonyms |
2310003F16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL03309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121287569-121288921 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 121288673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 113
(L113*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056312]
[ENSMUST00000056732]
[ENSMUST00000110612]
[ENSMUST00000110613]
[ENSMUST00000126764]
[ENSMUST00000148575]
[ENSMUST00000154418]
[ENSMUST00000139253]
|
| AlphaFold |
Q9CR41 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028677
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056312
|
| SMART Domains |
Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
33 |
488 |
3e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056732
|
| SMART Domains |
Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
123 |
N/A |
INTRINSIC |
|
coiled coil region
|
134 |
150 |
N/A |
INTRINSIC |
|
Pfam:MFAP1
|
190 |
399 |
1.6e-81 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110612
AA Change: L113*
|
| SMART Domains |
Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245
AA Change: L113*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000110613
|
| SMART Domains |
Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
34 |
280 |
5.6e-67 |
PFAM |
|
low complexity region
|
342 |
364 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125849
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126678
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126764
AA Change: L113*
|
| SMART Domains |
Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245
AA Change: L113*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148575
|
| SMART Domains |
Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4F5
|
1 |
38 |
2.9e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154418
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140752
|
| SMART Domains |
Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
2 |
78 |
7.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139253
|
| SMART Domains |
Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4F5
|
1 |
38 |
1e-14 |
PFAM |
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127435
|
| SMART Domains |
Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
2 |
192 |
7.7e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140135
|
| SMART Domains |
Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
1 |
75 |
8.2e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,303 (GRCm39) |
T334A |
possibly damaging |
Het |
| Armc9 |
A |
G |
1: 86,202,155 (GRCm39) |
E771G |
possibly damaging |
Het |
| Cd207 |
G |
T |
6: 83,654,735 (GRCm39) |
T16K |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,644,522 (GRCm39) |
E421K |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,862,331 (GRCm39) |
Y584H |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,379,241 (GRCm39) |
|
probably null |
Het |
| Clpx |
T |
G |
9: 65,229,974 (GRCm39) |
L474R |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,175,590 (GRCm39) |
V143A |
probably damaging |
Het |
| Cttnbp2 |
A |
G |
6: 18,381,035 (GRCm39) |
V877A |
probably damaging |
Het |
| Dlx6 |
G |
T |
6: 6,867,289 (GRCm39) |
M158I |
possibly damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,902 (GRCm39) |
T33A |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,038,637 (GRCm39) |
L828P |
probably damaging |
Het |
| Fh1 |
A |
T |
1: 175,431,609 (GRCm39) |
S426T |
probably benign |
Het |
| Gabrg3 |
G |
T |
7: 56,632,433 (GRCm39) |
Q172K |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,908,141 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
G |
A |
14: 121,157,416 (GRCm39) |
V85I |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,986,579 (GRCm39) |
Y575* |
probably null |
Het |
| Morf4l1 |
T |
A |
9: 89,985,798 (GRCm39) |
E60V |
probably benign |
Het |
| Or52ac1 |
A |
G |
7: 104,246,248 (GRCm39) |
F47L |
probably benign |
Het |
| Or6c6 |
A |
T |
10: 129,187,178 (GRCm39) |
T249S |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,825,265 (GRCm39) |
T130S |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,207 (GRCm39) |
Y507H |
probably damaging |
Het |
| Psme2b |
A |
C |
11: 48,836,626 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,096,562 (GRCm39) |
|
probably null |
Het |
| Rngtt |
C |
A |
4: 33,339,091 (GRCm39) |
R299S |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 51,994,357 (GRCm39) |
S1308P |
possibly damaging |
Het |
| Rpl3l |
A |
G |
17: 24,954,998 (GRCm39) |
K398E |
possibly damaging |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Srcap |
A |
G |
7: 127,129,965 (GRCm39) |
T616A |
probably damaging |
Het |
| Stk3 |
G |
A |
15: 35,099,697 (GRCm39) |
|
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,731,898 (GRCm39) |
D69V |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Hypk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01543:Hypk
|
APN |
2 |
121,287,776 (GRCm39) |
splice site |
probably null |
|
|
IGL03309:Hypk
|
APN |
2 |
121,288,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Hypk
|
UTSW |
2 |
121,287,773 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3923:Hypk
|
UTSW |
2 |
121,288,683 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4060:Hypk
|
UTSW |
2 |
121,284,160 (GRCm39) |
intron |
probably benign |
|
|
R4438:Hypk
|
UTSW |
2 |
121,288,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4551:Hypk
|
UTSW |
2 |
121,283,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4791:Hypk
|
UTSW |
2 |
121,288,136 (GRCm39) |
splice site |
probably null |
|
|
R5075:Hypk
|
UTSW |
2 |
121,286,111 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7133:Hypk
|
UTSW |
2 |
121,283,961 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7274:Hypk
|
UTSW |
2 |
121,284,805 (GRCm39) |
intron |
probably benign |
|
|
R8130:Hypk
|
UTSW |
2 |
121,286,859 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9136:Hypk
|
UTSW |
2 |
121,287,636 (GRCm39) |
nonsense |
probably null |
|
|
R9203:Hypk
|
UTSW |
2 |
121,288,163 (GRCm39) |
nonsense |
probably null |
|
|
R9610:Hypk
|
UTSW |
2 |
121,288,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Hypk
|
UTSW |
2 |
121,288,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation