Incidental Mutation 'IGL01931:Hook3'
| ID |
180449 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01931
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 26578083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037182
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209542
|
| 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 |
|---|
| 4930533L02Rik |
A |
G |
7: 124,917,869 (GRCm39) |
E87G |
unknown |
Het |
| Ano2 |
A |
G |
6: 125,959,708 (GRCm39) |
Y656C |
probably damaging |
Het |
| Cckbr |
T |
C |
7: 105,075,310 (GRCm39) |
S27P |
probably benign |
Het |
| Celsr1 |
T |
A |
15: 85,791,861 (GRCm39) |
N2580I |
probably damaging |
Het |
| Cfap221 |
A |
G |
1: 119,860,625 (GRCm39) |
L667P |
probably damaging |
Het |
| Col16a1 |
T |
C |
4: 129,966,634 (GRCm39) |
C555R |
possibly damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,114,973 (GRCm39) |
V162A |
probably damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,011,207 (GRCm39) |
S3669L |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm4922 |
A |
G |
10: 18,660,042 (GRCm39) |
S227P |
probably benign |
Het |
| Grin2c |
A |
G |
11: 115,144,736 (GRCm39) |
F597L |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,061,245 (GRCm39) |
I106T |
probably damaging |
Het |
| Mdc1 |
T |
C |
17: 36,159,123 (GRCm39) |
V501A |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,386,964 (GRCm39) |
C667S |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,516,950 (GRCm39) |
V840A |
probably benign |
Het |
| Naip1 |
G |
T |
13: 100,545,540 (GRCm39) |
C1329* |
probably null |
Het |
| Oas1c |
A |
C |
5: 120,943,560 (GRCm39) |
I193S |
probably benign |
Het |
| Osbp2 |
C |
T |
11: 3,655,388 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,154,509 (GRCm39) |
|
probably benign |
Het |
| Pisd |
C |
A |
5: 32,896,476 (GRCm39) |
|
probably null |
Het |
| Ppox |
T |
C |
1: 171,105,456 (GRCm39) |
Q302R |
probably null |
Het |
| Sec24b |
G |
A |
3: 129,803,448 (GRCm39) |
P305S |
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,148,705 (GRCm39) |
I923F |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,504,098 (GRCm39) |
V352E |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,789,603 (GRCm39) |
V152A |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wdfy4 |
C |
T |
14: 32,877,710 (GRCm39) |
G85S |
probably damaging |
Het |
| Wnk4 |
A |
G |
11: 101,159,310 (GRCm39) |
T139A |
possibly damaging |
Het |
| Zfp345 |
T |
C |
2: 150,315,270 (GRCm39) |
H89R |
probably benign |
Het |
|
| Other mutations in Hook3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Hook3
|
APN |
8 |
26,549,278 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01066:Hook3
|
APN |
8 |
26,538,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01145:Hook3
|
APN |
8 |
26,549,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01514:Hook3
|
APN |
8 |
26,578,217 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01727:Hook3
|
APN |
8 |
26,560,187 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01832:Hook3
|
APN |
8 |
26,562,393 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01874:Hook3
|
APN |
8 |
26,529,760 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01948:Hook3
|
APN |
8 |
26,549,340 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02209:Hook3
|
APN |
8 |
26,560,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02675:Hook3
|
APN |
8 |
26,551,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02750:Hook3
|
APN |
8 |
26,585,782 (GRCm39) |
splice site |
probably benign |
|
|
Rufio
|
UTSW |
8 |
26,524,968 (GRCm39) |
nonsense |
probably null |
|
|
R0384:Hook3
|
UTSW |
8 |
26,534,263 (GRCm39) |
splice site |
probably null |
|
|
R0600:Hook3
|
UTSW |
8 |
26,609,014 (GRCm39) |
missense |
probably benign |
|
|
R1037:Hook3
|
UTSW |
8 |
26,562,378 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1413:Hook3
|
UTSW |
8 |
26,528,134 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1563:Hook3
|
UTSW |
8 |
26,600,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1767:Hook3
|
UTSW |
8 |
26,561,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1806:Hook3
|
UTSW |
8 |
26,558,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Hook3
|
UTSW |
8 |
26,528,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2026:Hook3
|
UTSW |
8 |
26,528,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2027:Hook3
|
UTSW |
8 |
26,528,126 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2091:Hook3
|
UTSW |
8 |
26,549,422 (GRCm39) |
splice site |
probably benign |
|
|
R2153:Hook3
|
UTSW |
8 |
26,560,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Hook3
|
UTSW |
8 |
26,609,011 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4586:Hook3
|
UTSW |
8 |
26,522,039 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4863:Hook3
|
UTSW |
8 |
26,528,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4971:Hook3
|
UTSW |
8 |
26,572,607 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5023:Hook3
|
UTSW |
8 |
26,522,047 (GRCm39) |
frame shift |
probably null |
|
|
R5026:Hook3
|
UTSW |
8 |
26,600,785 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5068:Hook3
|
UTSW |
8 |
26,585,785 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5253:Hook3
|
UTSW |
8 |
26,562,319 (GRCm39) |
missense |
probably benign |
|
|
R5383:Hook3
|
UTSW |
8 |
26,609,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5437:Hook3
|
UTSW |
8 |
26,551,450 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5528:Hook3
|
UTSW |
8 |
26,562,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Hook3
|
UTSW |
8 |
26,558,639 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5846:Hook3
|
UTSW |
8 |
26,534,355 (GRCm39) |
intron |
probably benign |
|
|
R5907:Hook3
|
UTSW |
8 |
26,534,306 (GRCm39) |
intron |
probably benign |
|
|
R6082:Hook3
|
UTSW |
8 |
26,600,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6124:Hook3
|
UTSW |
8 |
26,549,300 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6301:Hook3
|
UTSW |
8 |
26,524,968 (GRCm39) |
nonsense |
probably null |
|
|
R6314:Hook3
|
UTSW |
8 |
26,578,136 (GRCm39) |
missense |
probably benign |
|
|
R6448:Hook3
|
UTSW |
8 |
26,583,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6810:Hook3
|
UTSW |
8 |
26,522,450 (GRCm39) |
splice site |
probably null |
|
|
R7168:Hook3
|
UTSW |
8 |
26,561,114 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7856:Hook3
|
UTSW |
8 |
26,525,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7988:Hook3
|
UTSW |
8 |
26,563,675 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8079:Hook3
|
UTSW |
8 |
26,578,086 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9121:Hook3
|
UTSW |
8 |
26,525,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Hook3
|
UTSW |
8 |
26,522,552 (GRCm39) |
missense |
|
|
|
R9244:Hook3
|
UTSW |
8 |
26,561,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9246:Hook3
|
UTSW |
8 |
26,562,319 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation