Incidental Mutation 'IGL02209:Hook3'
ID |
284627 |
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 # |
IGL02209
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 26560293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 311
(D311N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
AlphaFold |
Q8BUK6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037182
AA Change: D311N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046788 Gene: ENSMUSG00000037234 AA Change: D311N
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147613
|
SMART Domains |
Protein: ENSMUSP00000115008 Gene: ENSMUSG00000037234
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
1 |
194 |
1.1e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209996
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210172
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210389
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210860
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
C |
T |
17: 36,274,901 (GRCm39) |
R82Q |
probably damaging |
Het |
Acmsd |
A |
G |
1: 127,687,492 (GRCm39) |
Y258C |
probably damaging |
Het |
Anapc5 |
A |
G |
5: 122,938,676 (GRCm39) |
I366T |
possibly damaging |
Het |
Crkl |
C |
T |
16: 17,287,098 (GRCm39) |
T218I |
probably benign |
Het |
Egf |
A |
T |
3: 129,500,956 (GRCm39) |
I213K |
possibly damaging |
Het |
Fry |
A |
G |
5: 150,360,491 (GRCm39) |
T33A |
probably benign |
Het |
Garnl3 |
T |
C |
2: 32,975,942 (GRCm39) |
D93G |
probably damaging |
Het |
Iglv3 |
T |
C |
16: 19,060,420 (GRCm39) |
T4A |
probably benign |
Het |
Kctd17 |
A |
G |
15: 78,319,792 (GRCm39) |
N70S |
probably damaging |
Het |
Kmt2d |
T |
C |
15: 98,752,448 (GRCm39) |
|
probably benign |
Het |
Lrif1 |
A |
C |
3: 106,639,045 (GRCm39) |
L18F |
probably damaging |
Het |
Mfsd1 |
A |
G |
3: 67,505,465 (GRCm39) |
|
probably benign |
Het |
Msh4 |
A |
G |
3: 153,594,499 (GRCm39) |
Y101H |
probably damaging |
Het |
Mycbpap |
G |
A |
11: 94,400,708 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,027 (GRCm39) |
D183G |
probably benign |
Het |
Nppc |
T |
C |
1: 86,597,387 (GRCm39) |
*127W |
probably null |
Het |
Or10al3 |
G |
A |
17: 38,011,883 (GRCm39) |
M107I |
probably damaging |
Het |
Or1ak2 |
C |
T |
2: 36,827,517 (GRCm39) |
P129S |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,123 (GRCm39) |
I154V |
probably benign |
Het |
Or51i2 |
T |
G |
7: 103,689,663 (GRCm39) |
L220R |
probably damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,342 (GRCm39) |
K146E |
possibly damaging |
Het |
Pde5a |
A |
G |
3: 122,618,664 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,365,296 (GRCm39) |
V1139A |
probably damaging |
Het |
Pwwp2b |
G |
A |
7: 138,835,021 (GRCm39) |
R154Q |
probably damaging |
Het |
Satb2 |
C |
T |
1: 56,910,677 (GRCm39) |
V264I |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,720,688 (GRCm39) |
F435Y |
probably benign |
Het |
Stmn2 |
T |
C |
3: 8,625,321 (GRCm39) |
|
probably benign |
Het |
Synj1 |
A |
G |
16: 90,784,307 (GRCm39) |
I277T |
probably damaging |
Het |
Trio |
C |
T |
15: 27,744,139 (GRCm39) |
A2598T |
probably damaging |
Het |
Tshz2 |
G |
A |
2: 169,726,684 (GRCm39) |
V427M |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,559,039 (GRCm39) |
S1405P |
probably damaging |
Het |
Vmn1r173 |
G |
A |
7: 23,402,586 (GRCm39) |
V274I |
probably benign |
Het |
Vmn2r116 |
T |
C |
17: 23,607,761 (GRCm39) |
F443S |
probably damaging |
Het |
Vps13d |
C |
A |
4: 144,882,671 (GRCm39) |
R974L |
probably damaging |
Het |
Wapl |
T |
A |
14: 34,399,218 (GRCm39) |
S96T |
possibly damaging |
Het |
Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
Zfp692 |
C |
T |
11: 58,204,824 (GRCm39) |
R395* |
probably null |
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 |
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 |
2015-04-16 |