Incidental Mutation 'R7856:Hook3'
ID |
607237 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hook3
|
Ensembl Gene |
ENSMUSG00000037234 |
Gene Name |
hook microtubule tethering protein 3 |
Synonyms |
E330005F07Rik, 5830454D03Rik |
MMRRC Submission |
045909-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7856 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 26525249 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 619
(D619G)
|
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: D619G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046788 Gene: ENSMUSG00000037234 AA Change: D619G
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 |
probably benign
Transcript: ENSMUST00000211683
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (36/36) |
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 |
Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
Ces3b |
A |
G |
8: 105,819,894 (GRCm39) |
*572W |
probably null |
Het |
Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
|
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 |
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'- GGCACTAACAATGTATTTCTCCTCC -3'
(R):5'- TCTATAGCTGTGTACACGTTAGC -3'
Sequencing Primer
(F):5'- TCTTTCTGAAGCATAACCACATG -3'
(R):5'- ACCTAGGGCCCCATGTGTATTAG -3'
|
Posted On |
2019-12-20 |