Incidental Mutation 'IGL02750:Hook3'
| ID |
306275 |
| 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 # |
IGL02750
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
26021421-26119224 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 26095754 bp (GRCm38)
|
| 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: 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
T |
C |
9: 14,548,791 (GRCm38) |
K884R |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,665,984 (GRCm38) |
|
probably benign |
Het |
| Baz2b |
C |
A |
2: 59,968,658 (GRCm38) |
S374I |
possibly damaging |
Het |
| Brd4 |
G |
A |
17: 32,198,379 (GRCm38) |
|
probably benign |
Het |
| Cd3g |
C |
A |
9: 44,971,310 (GRCm38) |
|
probably benign |
Het |
| Ckmt1 |
C |
T |
2: 121,363,615 (GRCm38) |
|
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,405,362 (GRCm38) |
|
probably null |
Het |
| Dkkl1 |
C |
T |
7: 45,210,112 (GRCm38) |
|
probably null |
Het |
| Ehmt1 |
G |
A |
2: 24,863,869 (GRCm38) |
T161I |
probably damaging |
Het |
| Ern2 |
A |
G |
7: 122,181,406 (GRCm38) |
|
probably benign |
Het |
| Fmnl2 |
T |
C |
2: 53,103,697 (GRCm38) |
I368T |
possibly damaging |
Het |
| Gabra5 |
G |
T |
7: 57,507,991 (GRCm38) |
S25Y |
probably benign |
Het |
| Gemin7 |
C |
T |
7: 19,565,419 (GRCm38) |
V84M |
probably null |
Het |
| Gm17654 |
A |
G |
14: 43,578,199 (GRCm38) |
|
probably benign |
Het |
| Grk6 |
T |
C |
13: 55,451,543 (GRCm38) |
F186S |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,216,889 (GRCm38) |
H663R |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,676,512 (GRCm38) |
I581F |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 56,204,379 (GRCm38) |
|
probably benign |
Het |
| Ints4 |
T |
A |
7: 97,517,757 (GRCm38) |
|
probably null |
Het |
| Kpna6 |
T |
C |
4: 129,661,377 (GRCm38) |
N20D |
probably damaging |
Het |
| Krtap29-1 |
T |
C |
11: 99,978,684 (GRCm38) |
S124G |
probably benign |
Het |
| Krtap4-16 |
C |
A |
11: 99,851,280 (GRCm38) |
R98L |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,531,683 (GRCm38) |
D268G |
probably damaging |
Het |
| Mcm6 |
T |
A |
1: 128,343,472 (GRCm38) |
Q470L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,291,055 (GRCm38) |
H1180R |
probably benign |
Het |
| Nxpe3 |
C |
A |
16: 55,860,375 (GRCm38) |
V285L |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,672,609 (GRCm38) |
C195* |
probably null |
Het |
| Or14a260 |
T |
A |
7: 86,335,544 (GRCm38) |
N284I |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,329,288 (GRCm38) |
R290G |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 94,039,544 (GRCm38) |
|
probably benign |
Het |
| Pnkp |
A |
G |
7: 44,860,187 (GRCm38) |
|
probably benign |
Het |
| Pou4f2 |
A |
T |
8: 78,435,063 (GRCm38) |
F304I |
probably damaging |
Het |
| Rita1 |
G |
A |
5: 120,609,651 (GRCm38) |
T194M |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,621,939 (GRCm38) |
T150A |
possibly damaging |
Het |
| Sema3b |
T |
C |
9: 107,603,164 (GRCm38) |
T168A |
probably benign |
Het |
| Skint5 |
T |
A |
4: 113,539,362 (GRCm38) |
M1205L |
unknown |
Het |
| Sox13 |
A |
C |
1: 133,383,796 (GRCm38) |
I566S |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,198,491 (GRCm38) |
T209A |
possibly damaging |
Het |
| Tonsl |
G |
T |
15: 76,633,389 (GRCm38) |
P710Q |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 143,074,484 (GRCm38) |
H1018R |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 46,969,282 (GRCm38) |
M647K |
probably benign |
Het |
| Ubr7 |
A |
T |
12: 102,771,278 (GRCm38) |
T395S |
possibly damaging |
Het |
| Uri1 |
G |
A |
7: 37,967,481 (GRCm38) |
R176* |
probably null |
Het |
| Vmn1r188 |
A |
T |
13: 22,088,730 (GRCm38) |
I285F |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,397,634 (GRCm38) |
|
probably benign |
Het |
| Vmn2r2 |
C |
A |
3: 64,117,402 (GRCm38) |
C586F |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,582,589 (GRCm38) |
W62R |
probably benign |
Het |
| Zfp24 |
A |
T |
18: 24,017,353 (GRCm38) |
S167T |
possibly damaging |
Het |
| Zfp462 |
A |
G |
4: 55,060,236 (GRCm38) |
K1254R |
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 |
|
IGL01066:Hook3
|
APN |
8 |
26,048,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation