Incidental Mutation 'IGL01543:Hypk'
| ID |
90247 |
| 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 # |
IGL01543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
121287569-121288921 bp(+) (GRCm39) |
| Type of Mutation |
splice site (4 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 121287776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056312]
[ENSMUST00000056732]
[ENSMUST00000110612]
[ENSMUST00000110613]
[ENSMUST00000148575]
[ENSMUST00000154418]
[ENSMUST00000126764]
[ENSMUST00000139253]
|
| AlphaFold |
Q9CR41 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028677
|
| Predicted Effect |
probably benign
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
|
| SMART Domains |
Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 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 null
Transcript: ENSMUST00000126764
|
| SMART Domains |
Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
69 |
111 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134412
|
| 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 |
|
| 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: ENSMUST00000140752
|
| SMART Domains |
Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Serinc
|
2 |
78 |
7.3e-14 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
| Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
| Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
| Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
| Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
| Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
| Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
| Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
| Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
| Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
| Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
| Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
| Slco6c1 |
A |
G |
1: 97,053,553 (GRCm39) |
M116T |
possibly damaging |
Het |
| Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
| Other mutations in Hypk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03309:Hypk
|
APN |
2 |
121,288,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03309:Hypk
|
APN |
2 |
121,288,673 (GRCm39) |
nonsense |
probably null |
|
|
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 |
2013-12-03 |
Incidental Mutation