Incidental Mutation 'IGL01750:Hook2'
| ID |
278822 |
| 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 # |
IGL01750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
85717232-85729978 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 85719865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064495]
[ENSMUST00000209764]
[ENSMUST00000210326]
|
| AlphaFold |
Q7TMK6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064495
|
| SMART Domains |
Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
8 |
703 |
2.3e-277 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000209764
|
| Predicted Effect |
probably null
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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
A |
G |
7: 80,742,030 (GRCm39) |
R616G |
probably damaging |
Het |
| Cacna1b |
G |
A |
2: 24,544,407 (GRCm39) |
P1260S |
probably damaging |
Het |
| Ccz1 |
A |
T |
5: 143,940,880 (GRCm39) |
Y225N |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,303,897 (GRCm39) |
P1101S |
probably damaging |
Het |
| Cyp2d22 |
T |
A |
15: 82,258,570 (GRCm39) |
H97L |
probably benign |
Het |
| Emsy |
G |
A |
7: 98,268,508 (GRCm39) |
S511F |
probably damaging |
Het |
| Fnbp1l |
G |
T |
3: 122,338,326 (GRCm39) |
Y351* |
probably null |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Hrob |
T |
C |
11: 102,145,777 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
A |
11: 115,879,752 (GRCm39) |
V635I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,049 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
T |
C |
12: 16,627,177 (GRCm39) |
N123S |
probably benign |
Het |
| Man2c1 |
T |
C |
9: 57,048,064 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 58,922,465 (GRCm39) |
E6558G |
probably damaging |
Het |
| Or2j6 |
T |
C |
7: 139,980,570 (GRCm39) |
T130A |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,877,764 (GRCm39) |
T440A |
probably damaging |
Het |
| Pitx1 |
A |
G |
13: 55,974,304 (GRCm39) |
Y176H |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,057,589 (GRCm39) |
V4116A |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,575,680 (GRCm39) |
V617A |
possibly damaging |
Het |
| Pprc1 |
T |
C |
19: 46,060,268 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
G |
A |
5: 120,256,857 (GRCm39) |
A57T |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,064 (GRCm39) |
I134T |
possibly damaging |
Het |
| Thumpd2 |
G |
A |
17: 81,361,815 (GRCm39) |
A137V |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,427,153 (GRCm39) |
Y756C |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,545,435 (GRCm39) |
L986P |
probably damaging |
Het |
| Tmem132c |
C |
A |
5: 127,540,023 (GRCm39) |
Q350K |
possibly damaging |
Het |
| Zfp474 |
A |
G |
18: 52,772,349 (GRCm39) |
N334S |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation