Incidental Mutation 'IGL01514:Hook3'
| ID |
89320 |
| 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 # |
IGL01514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26578217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 91
(L91I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037182
AA Change: L91I
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: L91I
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
A |
G |
2: 93,669,587 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
T |
C |
4: 56,740,677 (GRCm39) |
Y227C |
probably damaging |
Het |
| Adam26a |
A |
T |
8: 44,021,485 (GRCm39) |
H668Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,094,653 (GRCm39) |
|
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,144,624 (GRCm39) |
|
probably benign |
Het |
| Atp11b |
G |
T |
3: 35,891,130 (GRCm39) |
G801V |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,522,866 (GRCm39) |
T1006I |
probably benign |
Het |
| Cacna2d4 |
T |
C |
6: 119,259,134 (GRCm39) |
|
probably benign |
Het |
| Cldn34b3 |
A |
T |
X: 75,310,680 (GRCm39) |
I83F |
probably damaging |
Het |
| Clec2g |
G |
A |
6: 128,925,736 (GRCm39) |
M48I |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,136 (GRCm39) |
D375G |
probably damaging |
Het |
| Erbb2 |
C |
T |
11: 98,323,745 (GRCm39) |
T653I |
possibly damaging |
Het |
| Etv3 |
A |
G |
3: 87,443,025 (GRCm39) |
H203R |
possibly damaging |
Het |
| Fat4 |
A |
G |
3: 39,003,683 (GRCm39) |
R1801G |
possibly damaging |
Het |
| Gars1 |
T |
A |
6: 55,042,505 (GRCm39) |
S413T |
probably benign |
Het |
| Gnat1 |
G |
A |
9: 107,553,500 (GRCm39) |
R253C |
possibly damaging |
Het |
| Lrp8 |
T |
C |
4: 107,712,881 (GRCm39) |
Y377H |
probably damaging |
Het |
| Lztr1 |
G |
A |
16: 17,340,255 (GRCm39) |
|
probably null |
Het |
| Malt1 |
A |
G |
18: 65,609,471 (GRCm39) |
D825G |
possibly damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,779,859 (GRCm39) |
|
probably null |
Het |
| Or1x2 |
C |
T |
11: 50,918,416 (GRCm39) |
R196* |
probably null |
Het |
| Or2v2 |
A |
T |
11: 49,004,403 (GRCm39) |
I50N |
probably damaging |
Het |
| Orc1 |
A |
G |
4: 108,459,249 (GRCm39) |
R473G |
probably damaging |
Het |
| Pard6g |
G |
A |
18: 80,160,661 (GRCm39) |
R258H |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,702,264 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Pycr3 |
T |
C |
15: 75,788,853 (GRCm39) |
T240A |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,766,442 (GRCm39) |
G1284V |
probably damaging |
Het |
| Rcl1 |
T |
C |
19: 29,120,698 (GRCm39) |
|
probably benign |
Het |
| Sec24c |
C |
T |
14: 20,732,839 (GRCm39) |
T134I |
possibly damaging |
Het |
| Sis |
A |
G |
3: 72,843,253 (GRCm39) |
|
probably benign |
Het |
| Susd5 |
A |
C |
9: 113,897,947 (GRCm39) |
|
probably benign |
Het |
| Tlk1 |
T |
C |
2: 70,582,610 (GRCm39) |
N173S |
probably benign |
Het |
| Uroc1 |
T |
C |
6: 90,340,082 (GRCm39) |
|
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 |
|
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 |
|
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 |
2013-12-03 |
Incidental Mutation