Incidental Mutation 'IGL02675:Hook3'
| ID |
303089 |
| 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 # |
IGL02675
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26551462 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 126
(L126Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037182
AA Change: L445Q
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: L445Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147613
AA Change: L126Q
PolyPhen 2
Score 0.642 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: L126Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
1 |
194 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210389
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano8 |
A |
G |
8: 71,936,184 (GRCm39) |
I204T |
probably damaging |
Het |
| Anxa8 |
A |
G |
14: 33,815,371 (GRCm39) |
D150G |
probably damaging |
Het |
| Arel1 |
T |
C |
12: 84,977,002 (GRCm39) |
T438A |
probably damaging |
Het |
| Asphd1 |
T |
C |
7: 126,546,006 (GRCm39) |
|
probably benign |
Het |
| Bcl2l12 |
A |
T |
7: 44,640,824 (GRCm39) |
|
probably benign |
Het |
| Cand1 |
A |
G |
10: 119,055,602 (GRCm39) |
I87T |
probably damaging |
Het |
| Ccdc80 |
A |
C |
16: 44,936,695 (GRCm39) |
T707P |
probably damaging |
Het |
| Ccn6 |
A |
G |
10: 39,027,236 (GRCm39) |
V332A |
possibly damaging |
Het |
| Cdh9 |
T |
A |
15: 16,849,162 (GRCm39) |
|
probably null |
Het |
| Chrd |
T |
C |
16: 20,558,699 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,969,369 (GRCm39) |
Q98R |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,420 (GRCm39) |
S583P |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,543,183 (GRCm39) |
I2329T |
possibly damaging |
Het |
| Egln3 |
A |
G |
12: 54,249,996 (GRCm39) |
S118P |
probably benign |
Het |
| Gfra1 |
G |
A |
19: 58,441,787 (GRCm39) |
T48I |
probably damaging |
Het |
| Hapln3 |
C |
T |
7: 78,767,596 (GRCm39) |
|
probably null |
Het |
| Heatr3 |
T |
C |
8: 88,871,185 (GRCm39) |
F180L |
possibly damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,849 (GRCm39) |
S2661T |
probably damaging |
Het |
| Hoxd8 |
T |
G |
2: 74,536,930 (GRCm39) |
L214R |
probably damaging |
Het |
| Ifna1 |
T |
G |
4: 88,768,670 (GRCm39) |
L116R |
probably damaging |
Het |
| Il31ra |
T |
A |
13: 112,660,886 (GRCm39) |
T487S |
probably benign |
Het |
| Kifc2 |
C |
T |
15: 76,547,179 (GRCm39) |
R252W |
probably damaging |
Het |
| Meox2 |
A |
G |
12: 37,228,333 (GRCm39) |
D290G |
probably damaging |
Het |
| Micu2 |
A |
G |
14: 58,182,834 (GRCm39) |
|
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,673,130 (GRCm39) |
T406A |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,545,626 (GRCm39) |
M1301L |
probably benign |
Het |
| Pbrm1 |
T |
C |
14: 30,828,244 (GRCm39) |
L1341P |
possibly damaging |
Het |
| Pcna-ps2 |
C |
A |
19: 9,261,323 (GRCm39) |
A194E |
probably benign |
Het |
| Pdcd10 |
G |
A |
3: 75,434,901 (GRCm39) |
T130I |
probably damaging |
Het |
| Pprc1 |
G |
A |
19: 46,051,946 (GRCm39) |
G491D |
probably damaging |
Het |
| Prss57 |
A |
G |
10: 79,623,309 (GRCm39) |
V46A |
probably benign |
Het |
| Ptcd3 |
A |
G |
6: 71,860,426 (GRCm39) |
|
probably null |
Het |
| Riok1 |
C |
T |
13: 38,234,219 (GRCm39) |
P262S |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,686,817 (GRCm39) |
N70S |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,839,178 (GRCm39) |
D157E |
probably benign |
Het |
| Sri |
T |
C |
5: 8,117,534 (GRCm39) |
F191S |
probably damaging |
Het |
| Stat5b |
T |
C |
11: 100,678,200 (GRCm39) |
R638G |
probably benign |
Het |
| Suds3 |
C |
T |
5: 117,232,970 (GRCm39) |
|
probably null |
Het |
| Tmem19 |
A |
G |
10: 115,178,478 (GRCm39) |
L281P |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,141,003 (GRCm39) |
|
probably benign |
Het |
| Trio |
A |
G |
15: 27,768,125 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,950,391 (GRCm39) |
I940T |
possibly damaging |
Het |
| Zfp280d |
T |
A |
9: 72,219,504 (GRCm39) |
I227K |
probably benign |
Het |
| Zfp335 |
A |
G |
2: 164,752,609 (GRCm39) |
V45A |
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 |
|
IGL01931:Hook3
|
APN |
8 |
26,578,083 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation