Incidental Mutation 'R0384:Hook3'
ID |
65490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hook3
|
Ensembl Gene |
ENSMUSG00000037234 |
Gene Name |
hook microtubule tethering protein 3 |
Synonyms |
E330005F07Rik, 5830454D03Rik |
MMRRC Submission |
038590-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0384 (G1)
|
Quality Score |
131 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 26534263 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
AlphaFold |
Q8BUK6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037182
|
SMART Domains |
Protein: ENSMUSP00000046788 Gene: ENSMUSG00000037234
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211777
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.7%
|
Validation Efficiency |
100% (72/72) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam8 |
T |
A |
7: 139,566,725 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,341,265 (GRCm39) |
|
probably benign |
Het |
Arhgef39 |
A |
G |
4: 43,498,613 (GRCm39) |
L117P |
probably damaging |
Het |
Atp13a1 |
A |
T |
8: 70,249,974 (GRCm39) |
Q356L |
possibly damaging |
Het |
Bmp2k |
T |
A |
5: 97,178,984 (GRCm39) |
|
probably benign |
Het |
Ccdc141 |
A |
G |
2: 76,857,992 (GRCm39) |
V1063A |
probably damaging |
Het |
Col20a1 |
T |
C |
2: 180,640,955 (GRCm39) |
Y568H |
probably benign |
Het |
Crabp2 |
T |
C |
3: 87,860,328 (GRCm39) |
V134A |
possibly damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,080,025 (GRCm39) |
K265E |
probably benign |
Het |
Cyp2j9 |
T |
C |
4: 96,474,122 (GRCm39) |
H106R |
probably benign |
Het |
Dcps |
T |
C |
9: 35,087,239 (GRCm39) |
K9R |
probably damaging |
Het |
Dnajc6 |
C |
T |
4: 101,456,153 (GRCm39) |
T47I |
probably damaging |
Het |
Dnhd1 |
T |
G |
7: 105,369,321 (GRCm39) |
S4315A |
possibly damaging |
Het |
Dnmt3l |
A |
T |
10: 77,888,571 (GRCm39) |
I158F |
possibly damaging |
Het |
Dock3 |
A |
G |
9: 106,779,094 (GRCm39) |
|
probably benign |
Het |
Eefsec |
A |
G |
6: 88,258,632 (GRCm39) |
|
probably null |
Het |
Fam204a |
T |
C |
19: 60,209,728 (GRCm39) |
M1V |
probably null |
Het |
Fam98b |
T |
C |
2: 117,098,328 (GRCm39) |
V266A |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,160,291 (GRCm39) |
I3274N |
possibly damaging |
Het |
Fbh1 |
A |
G |
2: 11,754,389 (GRCm39) |
I198T |
probably damaging |
Het |
Fer |
T |
C |
17: 64,231,179 (GRCm39) |
|
probably benign |
Het |
Fhad1 |
T |
A |
4: 141,729,737 (GRCm39) |
M89L |
probably benign |
Het |
Fjx1 |
C |
A |
2: 102,281,452 (GRCm39) |
C161F |
probably damaging |
Het |
Fkbp7 |
T |
A |
2: 76,496,168 (GRCm39) |
|
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,656,664 (GRCm39) |
C976S |
probably benign |
Het |
Gm4845 |
T |
C |
1: 141,184,823 (GRCm39) |
|
noncoding transcript |
Het |
Herc1 |
T |
A |
9: 66,388,332 (GRCm39) |
|
probably benign |
Het |
Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
Itga2b |
A |
T |
11: 102,356,188 (GRCm39) |
|
probably null |
Het |
Klk1b21 |
T |
C |
7: 43,754,917 (GRCm39) |
Y71H |
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,490,515 (GRCm39) |
N339I |
possibly damaging |
Het |
Ky |
C |
T |
9: 102,419,289 (GRCm39) |
T432I |
probably benign |
Het |
Map4 |
C |
T |
9: 109,863,696 (GRCm39) |
T307I |
probably damaging |
Het |
Matn1 |
T |
C |
4: 130,671,787 (GRCm39) |
L18P |
probably benign |
Het |
Mindy4 |
G |
A |
6: 55,193,669 (GRCm39) |
D121N |
probably damaging |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Msto1 |
G |
A |
3: 88,817,646 (GRCm39) |
Q441* |
probably null |
Het |
Muc5ac |
A |
G |
7: 141,365,988 (GRCm39) |
H2048R |
possibly damaging |
Het |
Musk |
T |
C |
4: 58,373,711 (GRCm39) |
*879Q |
probably null |
Het |
Nat8f2 |
T |
C |
6: 85,845,350 (GRCm39) |
Y4C |
possibly damaging |
Het |
Ncaph2 |
T |
A |
15: 89,253,594 (GRCm39) |
I282N |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,638,421 (GRCm39) |
T114A |
probably benign |
Het |
Npr1 |
C |
A |
3: 90,372,474 (GRCm39) |
G113C |
probably damaging |
Het |
Nrxn1 |
G |
A |
17: 90,515,775 (GRCm39) |
P193S |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,963,025 (GRCm39) |
F870L |
probably benign |
Het |
Or10h1b |
A |
G |
17: 33,395,522 (GRCm39) |
I45V |
probably damaging |
Het |
Or4c122 |
A |
G |
2: 89,079,414 (GRCm39) |
I208T |
possibly damaging |
Het |
Or6c5c |
T |
A |
10: 129,298,909 (GRCm39) |
Y121* |
probably null |
Het |
Or8k30 |
T |
A |
2: 86,339,727 (GRCm39) |
I308K |
possibly damaging |
Het |
Phf14 |
A |
G |
6: 11,997,019 (GRCm39) |
|
probably benign |
Het |
Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
Prdm2 |
T |
C |
4: 142,862,258 (GRCm39) |
E344G |
probably benign |
Het |
Psmd12 |
T |
C |
11: 107,376,547 (GRCm39) |
V61A |
probably benign |
Het |
Relt |
T |
C |
7: 100,496,712 (GRCm39) |
D385G |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,266 (GRCm39) |
I446F |
probably benign |
Het |
Sema3b |
G |
A |
9: 107,478,165 (GRCm39) |
L407F |
probably damaging |
Het |
Slc25a13 |
A |
T |
6: 6,042,600 (GRCm39) |
Y601* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,700,885 (GRCm39) |
V270I |
probably benign |
Het |
Tex52 |
A |
G |
6: 128,356,496 (GRCm39) |
Y63C |
probably damaging |
Het |
Tmem138 |
A |
G |
19: 10,552,186 (GRCm39) |
|
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,582,163 (GRCm39) |
|
probably null |
Het |
Tspoap1 |
A |
T |
11: 87,657,280 (GRCm39) |
Q364L |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,599,811 (GRCm39) |
L1037P |
probably damaging |
Het |
Ugcg |
T |
A |
4: 59,220,387 (GRCm39) |
D393E |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,967,076 (GRCm39) |
I274T |
probably benign |
Het |
Vmn2r27 |
A |
G |
6: 124,200,871 (GRCm39) |
V362A |
probably benign |
Het |
Vmn2r87 |
T |
A |
10: 130,307,712 (GRCm39) |
Y842F |
probably benign |
Het |
Vps8 |
T |
A |
16: 21,325,575 (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 |
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 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACGGAACTGATGTGTGGGC -3'
(R):5'- GGGTACTGAATCCAGGAATATTTGGGTC -3'
Sequencing Primer
(F):5'- AACTGATGTGTGGGCATTTG -3'
(R):5'- CTCTTTTATCGAAGAGGAGAAAGTTG -3'
|
Posted On |
2013-08-08 |