Incidental Mutation 'IGL02175:Hook2'
ID |
283056 |
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: 0.183)
|
Stock # |
IGL02175
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
85717232-85729978 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 85718031 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 53
(W53R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148078
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064495]
[ENSMUST00000209764]
[ENSMUST00000210326]
|
AlphaFold |
Q7TMK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000064495
AA Change: W53R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067752 Gene: ENSMUSG00000052566 AA Change: W53R
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
8 |
703 |
2.3e-277 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000209764
AA Change: W53R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000210326
AA Change: W53R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,261,642 (GRCm39) |
|
probably null |
Het |
Adgrf5 |
A |
G |
17: 43,761,901 (GRCm39) |
I1199V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,391,965 (GRCm39) |
H1808L |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,467,092 (GRCm38) |
V942M |
probably damaging |
Het |
Capns1 |
T |
C |
7: 29,889,957 (GRCm39) |
D116G |
probably benign |
Het |
Ccdc110 |
T |
G |
8: 46,393,660 (GRCm39) |
M124R |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,167,087 (GRCm39) |
N1855S |
possibly damaging |
Het |
Dstyk |
T |
A |
1: 132,377,129 (GRCm39) |
L245* |
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,111,548 (GRCm39) |
Y289H |
possibly damaging |
Het |
Efcab6 |
G |
A |
15: 83,780,301 (GRCm39) |
A1044V |
probably damaging |
Het |
Egr1 |
T |
C |
18: 34,996,108 (GRCm39) |
S297P |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 64,017,004 (GRCm39) |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,563,020 (GRCm39) |
A496T |
possibly damaging |
Het |
Med19 |
T |
A |
2: 84,509,007 (GRCm39) |
|
probably null |
Het |
Mgrn1 |
A |
G |
16: 4,738,232 (GRCm39) |
N262S |
probably benign |
Het |
Nbas |
T |
G |
12: 13,616,260 (GRCm39) |
|
probably null |
Het |
Ndc80 |
A |
C |
17: 71,818,414 (GRCm39) |
M314R |
probably benign |
Het |
Nelfcd |
A |
T |
2: 174,262,175 (GRCm39) |
T89S |
probably benign |
Het |
Nlrp4a |
A |
T |
7: 26,174,522 (GRCm39) |
E969D |
probably damaging |
Het |
Ntrk3 |
A |
G |
7: 77,896,976 (GRCm39) |
V687A |
probably damaging |
Het |
Oc90 |
A |
C |
15: 65,755,674 (GRCm39) |
S224R |
possibly damaging |
Het |
Or4a69 |
T |
C |
2: 89,312,626 (GRCm39) |
I284M |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,929,914 (GRCm39) |
H257Y |
possibly damaging |
Het |
Prpf3 |
A |
G |
3: 95,741,419 (GRCm39) |
V579A |
probably damaging |
Het |
Rarres1 |
T |
C |
3: 67,403,089 (GRCm39) |
N104S |
probably benign |
Het |
Serpina1d |
T |
C |
12: 103,731,955 (GRCm39) |
|
probably null |
Het |
Sik2 |
G |
A |
9: 50,806,909 (GRCm39) |
Q834* |
probably null |
Het |
Slc39a10 |
G |
A |
1: 46,857,288 (GRCm39) |
A696V |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,182,061 (GRCm39) |
N703K |
possibly damaging |
Het |
Spaca9 |
T |
C |
2: 28,585,936 (GRCm39) |
I43V |
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 155,940,752 (GRCm39) |
S353P |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,324,235 (GRCm39) |
S361P |
probably benign |
Het |
Trpm2 |
T |
C |
10: 77,773,741 (GRCm39) |
H558R |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,614,774 (GRCm39) |
C127R |
probably damaging |
Het |
Zfp879 |
A |
T |
11: 50,728,743 (GRCm39) |
Y84N |
probably benign |
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 |
IGL01535:Hook2
|
APN |
8 |
85,729,618 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
2015-04-16 |