Incidental Mutation 'IGL01535:Hook2'
| ID |
89912 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hook2
|
| Ensembl Gene |
ENSMUSG00000052566 |
| Gene Name |
hook microtubule tethering protein 2 |
| Synonyms |
A630054I03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
IGL01535
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85717232-85729978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85729618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 686
(L686P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059072]
[ENSMUST00000064495]
[ENSMUST00000209322]
[ENSMUST00000209421]
[ENSMUST00000209764]
[ENSMUST00000210326]
|
| AlphaFold |
Q7TMK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059072
|
| SMART Domains |
Protein: ENSMUSP00000053408
Gene: ENSMUSG00000052819
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bestrophin
|
8 |
316 |
5.8e-118 |
PFAM |
|
low complexity region
|
340 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
408 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064495
AA Change: L710P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: L710P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
8 |
703 |
2.3e-277 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209322
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209421
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209652
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209764
AA Change: L686P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210326
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,101,891 (GRCm39) |
S654T |
probably benign |
Het |
| Brd10 |
T |
C |
19: 29,731,212 (GRCm39) |
H600R |
possibly damaging |
Het |
| Cacnb3 |
A |
T |
15: 98,537,469 (GRCm39) |
Q49L |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,878,845 (GRCm39) |
|
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,566,846 (GRCm39) |
L1091* |
probably null |
Het |
| Epb42 |
A |
G |
2: 120,858,169 (GRCm39) |
V263A |
probably damaging |
Het |
| Fig4 |
T |
G |
10: 41,132,490 (GRCm39) |
S439R |
probably benign |
Het |
| Gatc |
A |
T |
5: 115,479,048 (GRCm39) |
V54E |
possibly damaging |
Het |
| Med12l |
A |
T |
3: 59,169,680 (GRCm39) |
T1615S |
probably damaging |
Het |
| Msr1 |
C |
T |
8: 40,064,714 (GRCm39) |
G320D |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,256,414 (GRCm39) |
F220I |
probably damaging |
Het |
| Or14j2 |
T |
A |
17: 37,885,679 (GRCm39) |
I212F |
possibly damaging |
Het |
| Or2l5 |
G |
A |
16: 19,334,228 (GRCm39) |
H53Y |
probably benign |
Het |
| Pcdh10 |
A |
T |
3: 45,334,078 (GRCm39) |
I131F |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,660,697 (GRCm39) |
E784G |
possibly damaging |
Het |
| Prr36 |
A |
T |
8: 4,264,043 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
G |
A |
10: 107,535,457 (GRCm39) |
S436L |
probably benign |
Het |
| Rock1 |
T |
A |
18: 10,132,119 (GRCm39) |
|
probably benign |
Het |
| Sash1 |
T |
G |
10: 8,617,341 (GRCm39) |
T522P |
probably damaging |
Het |
| Serpinb2 |
T |
C |
1: 107,447,503 (GRCm39) |
|
probably null |
Het |
| Supt16 |
T |
C |
14: 52,414,647 (GRCm39) |
K422E |
probably damaging |
Het |
| Syt14 |
T |
G |
1: 192,669,073 (GRCm39) |
D60A |
probably damaging |
Het |
| Tbc1d2b |
A |
C |
9: 90,097,526 (GRCm39) |
|
probably benign |
Het |
| Thsd7b |
T |
C |
1: 129,605,954 (GRCm39) |
I565T |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,536 (GRCm39) |
Y28534H |
probably damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,765 (GRCm39) |
H37L |
probably damaging |
Het |
| Vps13b |
A |
T |
15: 35,455,103 (GRCm39) |
N671Y |
possibly damaging |
Het |
|
| Other mutations in Hook2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Hook2
|
APN |
8 |
85,729,126 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01161:Hook2
|
APN |
8 |
85,721,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01668:Hook2
|
APN |
8 |
85,720,207 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01749:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01750:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01753:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01900:Hook2
|
APN |
8 |
85,727,940 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02157:Hook2
|
APN |
8 |
85,727,779 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02175:Hook2
|
APN |
8 |
85,718,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Hook2
|
APN |
8 |
85,721,614 (GRCm39) |
nonsense |
probably null |
|
|
IGL02357:Hook2
|
APN |
8 |
85,721,614 (GRCm39) |
nonsense |
probably null |
|
|
IGL03377:Hook2
|
APN |
8 |
85,727,964 (GRCm39) |
nonsense |
probably null |
|
|
R0399:Hook2
|
UTSW |
8 |
85,720,196 (GRCm39) |
splice site |
probably benign |
|
|
R1133:Hook2
|
UTSW |
8 |
85,722,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Hook2
|
UTSW |
8 |
85,729,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2277:Hook2
|
UTSW |
8 |
85,729,560 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Hook2
|
UTSW |
8 |
85,717,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3406:Hook2
|
UTSW |
8 |
85,720,613 (GRCm39) |
splice site |
probably benign |
|
|
R4752:Hook2
|
UTSW |
8 |
85,729,349 (GRCm39) |
nonsense |
probably null |
|
|
R5014:Hook2
|
UTSW |
8 |
85,718,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Hook2
|
UTSW |
8 |
85,720,028 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5195:Hook2
|
UTSW |
8 |
85,721,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Hook2
|
UTSW |
8 |
85,728,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5597:Hook2
|
UTSW |
8 |
85,720,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5614:Hook2
|
UTSW |
8 |
85,729,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Hook2
|
UTSW |
8 |
85,717,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5931:Hook2
|
UTSW |
8 |
85,722,375 (GRCm39) |
nonsense |
probably null |
|
|
R5942:Hook2
|
UTSW |
8 |
85,721,409 (GRCm39) |
splice site |
probably null |
|
|
R6120:Hook2
|
UTSW |
8 |
85,724,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Hook2
|
UTSW |
8 |
85,721,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Hook2
|
UTSW |
8 |
85,729,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6992:Hook2
|
UTSW |
8 |
85,729,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Hook2
|
UTSW |
8 |
85,724,040 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7101:Hook2
|
UTSW |
8 |
85,723,680 (GRCm39) |
missense |
probably benign |
|
|
R7177:Hook2
|
UTSW |
8 |
85,718,046 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8072:Hook2
|
UTSW |
8 |
85,721,120 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2013-12-03 |
Incidental Mutation