Incidental Mutation 'IGL01066:Hook3'
| ID |
51710 |
| 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 # |
IGL01066
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26021421-26119224 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 26048298 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 525
(E525A)
|
| 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: E525A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E525A
| 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: ENSMUST00000152144
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 (GRCm38) |
V124I |
probably damaging |
Het |
| 2300003K06Rik |
T |
A |
11: 99,837,628 (GRCm38) |
R130* |
probably null |
Het |
| 9030624J02Rik |
T |
A |
7: 118,773,011 (GRCm38) |
|
probably null |
Het |
| Abca12 |
T |
A |
1: 71,353,730 (GRCm38) |
R117W |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,177,343 (GRCm38) |
S497P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,680,225 (GRCm38) |
S710T |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 52,857,209 (GRCm38) |
N471K |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,661,445 (GRCm38) |
M879K |
probably null |
Het |
| Apoe |
A |
G |
7: 19,696,600 (GRCm38) |
L239P |
probably damaging |
Het |
| Ash1l |
T |
C |
3: 88,984,635 (GRCm38) |
Y1274H |
probably damaging |
Het |
| B3glct |
C |
T |
5: 149,709,425 (GRCm38) |
T80I |
possibly damaging |
Het |
| Ccdc146 |
T |
C |
5: 21,319,542 (GRCm38) |
T271A |
probably benign |
Het |
| Chd8 |
T |
A |
14: 52,217,766 (GRCm38) |
N1088I |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,634,647 (GRCm38) |
|
probably benign |
Het |
| Daxx |
T |
A |
17: 33,913,893 (GRCm38) |
V627D |
probably benign |
Het |
| Dnai7 |
C |
T |
6: 145,176,222 (GRCm38) |
G624S |
probably damaging |
Het |
| Dpy19l3 |
A |
G |
7: 35,692,767 (GRCm38) |
|
probably benign |
Het |
| Enc1 |
A |
G |
13: 97,245,314 (GRCm38) |
I111V |
probably benign |
Het |
| Ep400 |
A |
G |
5: 110,668,199 (GRCm38) |
|
probably benign |
Het |
| Fig4 |
T |
C |
10: 41,285,417 (GRCm38) |
|
probably benign |
Het |
| Fkbp7 |
A |
T |
2: 76,672,908 (GRCm38) |
L36* |
probably null |
Het |
| Fxn |
A |
T |
19: 24,267,298 (GRCm38) |
|
probably benign |
Het |
| Gm10152 |
C |
T |
7: 144,763,256 (GRCm38) |
P16L |
unknown |
Het |
| Hivep2 |
T |
C |
10: 14,149,024 (GRCm38) |
V2194A |
possibly damaging |
Het |
| Icam1 |
A |
G |
9: 21,016,105 (GRCm38) |
|
probably null |
Het |
| Ifngr1 |
C |
T |
10: 19,609,198 (GRCm38) |
T315I |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,327,782 (GRCm38) |
|
probably null |
Het |
| Irag2 |
T |
C |
6: 145,160,955 (GRCm38) |
S222P |
probably damaging |
Het |
| Krt87 |
A |
G |
15: 101,438,385 (GRCm38) |
|
probably null |
Het |
| Lama1 |
T |
A |
17: 67,743,326 (GRCm38) |
C311S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,797,315 (GRCm38) |
M714K |
possibly damaging |
Het |
| Lypd5 |
C |
T |
7: 24,353,485 (GRCm38) |
T189I |
probably benign |
Het |
| Mapk8ip3 |
C |
T |
17: 24,901,718 (GRCm38) |
G807D |
probably benign |
Het |
| Met |
T |
C |
6: 17,535,105 (GRCm38) |
|
probably null |
Het |
| Nlrp4g |
C |
A |
9: 124,349,526 (GRCm38) |
|
noncoding transcript |
Het |
| Nlrp6 |
T |
A |
7: 140,921,796 (GRCm38) |
V62D |
possibly damaging |
Het |
| Nme7 |
A |
G |
1: 164,345,430 (GRCm38) |
|
probably null |
Het |
| Or2y1f |
T |
C |
11: 49,293,630 (GRCm38) |
I103T |
possibly damaging |
Het |
| Or5m9 |
A |
G |
2: 86,047,258 (GRCm38) |
R259G |
probably damaging |
Het |
| Or5p79 |
T |
C |
7: 108,621,857 (GRCm38) |
F15S |
probably damaging |
Het |
| Pcnx1 |
G |
A |
12: 81,992,021 (GRCm38) |
R2020Q |
possibly damaging |
Het |
| Pdzd2 |
T |
A |
15: 12,402,632 (GRCm38) |
|
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,348,773 (GRCm38) |
|
probably benign |
Het |
| Pkdrej |
T |
G |
15: 85,816,159 (GRCm38) |
I1859L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,754,398 (GRCm38) |
H638L |
probably damaging |
Het |
| Polr1b |
C |
T |
2: 129,119,152 (GRCm38) |
S677L |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,234,237 (GRCm38) |
L533P |
probably damaging |
Het |
| Sh3rf1 |
T |
A |
8: 61,329,336 (GRCm38) |
W171R |
probably damaging |
Het |
| Son |
T |
C |
16: 91,660,136 (GRCm38) |
|
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,920,634 (GRCm38) |
S266P |
probably damaging |
Het |
| Tedc1 |
A |
G |
12: 113,163,150 (GRCm38) |
E344G |
probably damaging |
Het |
| Tkfc |
T |
C |
19: 10,594,528 (GRCm38) |
I381M |
probably benign |
Het |
| Tmprss6 |
T |
C |
15: 78,442,434 (GRCm38) |
D1G |
probably null |
Het |
| Ttn |
T |
C |
2: 76,752,426 (GRCm38) |
T22708A |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,308,884 (GRCm38) |
|
probably benign |
Het |
| Vwc2l |
T |
C |
1: 70,728,911 (GRCm38) |
F45L |
probably damaging |
Het |
| Xpo7 |
T |
C |
14: 70,701,755 (GRCm38) |
T154A |
probably benign |
Het |
| Yars2 |
C |
T |
16: 16,306,542 (GRCm38) |
R338* |
probably null |
Het |
|
| Other mutations in Hook3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Hook3
|
APN |
8 |
26,059,250 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01145:Hook3
|
APN |
8 |
26,059,344 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01514:Hook3
|
APN |
8 |
26,088,189 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL01727:Hook3
|
APN |
8 |
26,070,159 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01832:Hook3
|
APN |
8 |
26,072,365 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01874:Hook3
|
APN |
8 |
26,039,732 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01931:Hook3
|
APN |
8 |
26,088,055 (GRCm38) |
splice site |
probably benign |
|
|
IGL01948:Hook3
|
APN |
8 |
26,059,312 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02209:Hook3
|
APN |
8 |
26,070,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02675:Hook3
|
APN |
8 |
26,061,434 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02750:Hook3
|
APN |
8 |
26,095,754 (GRCm38) |
splice site |
probably benign |
|
|
Rufio
|
UTSW |
8 |
26,034,940 (GRCm38) |
nonsense |
probably null |
|
|
R0384:Hook3
|
UTSW |
8 |
26,044,235 (GRCm38) |
splice site |
probably null |
|
|
R0600:Hook3
|
UTSW |
8 |
26,118,986 (GRCm38) |
missense |
probably benign |
|
|
R1037:Hook3
|
UTSW |
8 |
26,072,350 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1413:Hook3
|
UTSW |
8 |
26,038,106 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1563:Hook3
|
UTSW |
8 |
26,110,752 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1767:Hook3
|
UTSW |
8 |
26,071,056 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1806:Hook3
|
UTSW |
8 |
26,068,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2025:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2026:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2027:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2091:Hook3
|
UTSW |
8 |
26,059,394 (GRCm38) |
splice site |
probably benign |
|
|
R2153:Hook3
|
UTSW |
8 |
26,070,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Hook3
|
UTSW |
8 |
26,118,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4586:Hook3
|
UTSW |
8 |
26,032,011 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4863:Hook3
|
UTSW |
8 |
26,038,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Hook3
|
UTSW |
8 |
26,082,579 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5023:Hook3
|
UTSW |
8 |
26,032,019 (GRCm38) |
frame shift |
probably null |
|
|
R5026:Hook3
|
UTSW |
8 |
26,110,757 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5068:Hook3
|
UTSW |
8 |
26,095,757 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5253:Hook3
|
UTSW |
8 |
26,072,291 (GRCm38) |
missense |
probably benign |
|
|
R5383:Hook3
|
UTSW |
8 |
26,118,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5437:Hook3
|
UTSW |
8 |
26,061,422 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5528:Hook3
|
UTSW |
8 |
26,072,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5551:Hook3
|
UTSW |
8 |
26,068,611 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5846:Hook3
|
UTSW |
8 |
26,044,327 (GRCm38) |
intron |
probably benign |
|
|
R5907:Hook3
|
UTSW |
8 |
26,044,278 (GRCm38) |
intron |
probably benign |
|
|
R6082:Hook3
|
UTSW |
8 |
26,110,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6124:Hook3
|
UTSW |
8 |
26,059,272 (GRCm38) |
missense |
probably benign |
0.20 |
|
R6301:Hook3
|
UTSW |
8 |
26,034,940 (GRCm38) |
nonsense |
probably null |
|
|
R6314:Hook3
|
UTSW |
8 |
26,088,108 (GRCm38) |
missense |
probably benign |
|
|
R6448:Hook3
|
UTSW |
8 |
26,093,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6810:Hook3
|
UTSW |
8 |
26,032,422 (GRCm38) |
splice site |
probably null |
|
|
R7168:Hook3
|
UTSW |
8 |
26,071,086 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7856:Hook3
|
UTSW |
8 |
26,035,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7988:Hook3
|
UTSW |
8 |
26,073,647 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8079:Hook3
|
UTSW |
8 |
26,088,058 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9121:Hook3
|
UTSW |
8 |
26,035,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9223:Hook3
|
UTSW |
8 |
26,032,524 (GRCm38) |
missense |
|
|
|
R9244:Hook3
|
UTSW |
8 |
26,071,056 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9246:Hook3
|
UTSW |
8 |
26,072,291 (GRCm38) |
missense |
probably benign |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation