Incidental Mutation 'R2026:Hook3'
ID |
220626 |
Institutional Source |
Beutler Lab
|
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 # |
R2026 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26528126 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 588
(E588G)
|
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: E588G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000046788 Gene: ENSMUSG00000037234 AA Change: E588G
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147613
AA Change: E228G
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115008 Gene: ENSMUSG00000037234 AA Change: E228G
Domain | Start | End | E-Value | Type |
Pfam:HOOK
|
1 |
194 |
1.1e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152144
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211683
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211777
|
Meta Mutation Damage Score |
0.0713 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
A |
G |
8: 120,880,205 (GRCm39) |
K269R |
probably benign |
Het |
Abcc12 |
A |
G |
8: 87,284,862 (GRCm39) |
V251A |
probably benign |
Het |
Avil |
G |
A |
10: 126,847,742 (GRCm39) |
G556S |
probably damaging |
Het |
C3 |
T |
C |
17: 57,525,562 (GRCm39) |
Y898C |
probably damaging |
Het |
Cacng2 |
A |
G |
15: 77,879,720 (GRCm39) |
F201L |
possibly damaging |
Het |
Casp7 |
T |
A |
19: 56,424,830 (GRCm39) |
I183N |
probably damaging |
Het |
Cntn3 |
A |
T |
6: 102,397,388 (GRCm39) |
W62R |
probably damaging |
Het |
Ctrb1 |
T |
C |
8: 112,415,317 (GRCm39) |
N119S |
probably benign |
Het |
Cyp3a59 |
G |
A |
5: 146,033,098 (GRCm39) |
V157M |
probably damaging |
Het |
Dhfr |
G |
T |
13: 92,502,279 (GRCm39) |
G117* |
probably null |
Het |
Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
Dlg2 |
C |
A |
7: 91,614,931 (GRCm39) |
P290Q |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,638,629 (GRCm39) |
Q1240L |
probably damaging |
Het |
Exd1 |
A |
T |
2: 119,350,786 (GRCm39) |
S492T |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,760,445 (GRCm39) |
I415M |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,819,788 (GRCm39) |
T5174A |
possibly damaging |
Het |
Fuca2 |
T |
G |
10: 13,388,391 (GRCm39) |
V389G |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,008,898 (GRCm39) |
H50Q |
possibly damaging |
Het |
Gm5129 |
G |
A |
5: 29,940,732 (GRCm39) |
|
probably benign |
Het |
Hif3a |
T |
C |
7: 16,778,322 (GRCm39) |
R437G |
possibly damaging |
Het |
Hs1bp3 |
A |
G |
12: 8,387,738 (GRCm39) |
E301G |
probably benign |
Het |
Icam2 |
A |
G |
11: 106,273,268 (GRCm39) |
F15L |
probably benign |
Het |
Ice2 |
T |
C |
9: 69,323,607 (GRCm39) |
S701P |
probably benign |
Het |
Igf2bp1 |
A |
G |
11: 95,864,996 (GRCm39) |
V151A |
possibly damaging |
Het |
Lig4 |
A |
T |
8: 10,022,436 (GRCm39) |
L448Q |
probably damaging |
Het |
Man2b1 |
G |
C |
8: 85,821,964 (GRCm39) |
W726C |
probably damaging |
Het |
Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
Msh6 |
C |
T |
17: 88,297,771 (GRCm39) |
H1264Y |
probably damaging |
Het |
Ncoa1 |
A |
T |
12: 4,317,647 (GRCm39) |
S1228R |
probably benign |
Het |
Ndufa10 |
A |
G |
1: 92,367,614 (GRCm39) |
Y339H |
probably damaging |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Nutm2 |
A |
G |
13: 50,628,856 (GRCm39) |
H640R |
probably benign |
Het |
Or11i1 |
T |
C |
3: 106,729,027 (GRCm39) |
I283V |
probably benign |
Het |
Or2t1 |
T |
C |
14: 14,328,891 (GRCm38) |
V260A |
probably benign |
Het |
Or51ac3 |
T |
A |
7: 103,214,084 (GRCm39) |
Y134F |
probably damaging |
Het |
Or5b123 |
T |
A |
19: 13,596,945 (GRCm39) |
C140S |
probably damaging |
Het |
Or5w1b |
G |
T |
2: 87,475,753 (GRCm39) |
A238E |
probably damaging |
Het |
Or6c211 |
T |
A |
10: 129,506,334 (GRCm39) |
D18V |
probably damaging |
Het |
Pde1c |
C |
T |
6: 56,157,175 (GRCm39) |
V162I |
probably damaging |
Het |
Pdss2 |
A |
T |
10: 43,269,871 (GRCm39) |
N238I |
possibly damaging |
Het |
Pfas |
C |
T |
11: 68,884,783 (GRCm39) |
G473E |
probably damaging |
Het |
Pkn1 |
A |
G |
8: 84,398,007 (GRCm39) |
V795A |
probably damaging |
Het |
Polq |
A |
G |
16: 36,883,107 (GRCm39) |
D1757G |
possibly damaging |
Het |
Popdc3 |
T |
C |
10: 45,190,951 (GRCm39) |
W21R |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rfc1 |
G |
T |
5: 65,445,372 (GRCm39) |
T412K |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,831,627 (GRCm39) |
S706P |
possibly damaging |
Het |
Scgn |
T |
C |
13: 24,175,047 (GRCm39) |
|
probably benign |
Het |
Smad7 |
T |
C |
18: 75,527,225 (GRCm39) |
V357A |
probably damaging |
Het |
Snrnp48 |
G |
T |
13: 38,393,862 (GRCm39) |
A56S |
possibly damaging |
Het |
Sptbn1 |
G |
T |
11: 30,054,559 (GRCm39) |
A2178E |
probably benign |
Het |
Syn2 |
C |
T |
6: 115,255,212 (GRCm39) |
T508I |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
Trpm7 |
T |
C |
2: 126,654,658 (GRCm39) |
K1427E |
probably benign |
Het |
Trrap |
A |
G |
5: 144,739,854 (GRCm39) |
I1118V |
possibly damaging |
Het |
Tslp |
A |
T |
18: 32,948,725 (GRCm39) |
I37L |
probably benign |
Het |
Ttll3 |
G |
A |
6: 113,375,731 (GRCm39) |
V297M |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,540,713 (GRCm39) |
D34091G |
possibly damaging |
Het |
Txndc11 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 10,952,338 (GRCm39) |
|
probably benign |
Het |
Ube3a |
T |
C |
7: 58,953,474 (GRCm39) |
F803L |
probably damaging |
Het |
Ubn1 |
A |
G |
16: 4,882,514 (GRCm39) |
E325G |
probably damaging |
Het |
Wfikkn2 |
A |
G |
11: 94,129,779 (GRCm39) |
W121R |
possibly damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
Het |
Zfp616 |
A |
T |
11: 73,974,413 (GRCm39) |
L227F |
possibly damaging |
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 |
|
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 |
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'- GCTTAGAAGGCTTCTTTGATGATTT -3'
(R):5'- TCACCTGGAGCTGCTTCT -3'
Sequencing Primer
(F):5'- GAAGGCTTCTTTGATGATTTTCTATG -3'
(R):5'- CTGAAGGCAGCTACAGTGTACTTAC -3'
|
Posted On |
2014-08-25 |