Incidental Mutation 'R6810:Hook3'
| ID |
543623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
044923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6810 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
splice site (6 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 26522450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 |
probably null
Transcript: ENSMUST00000211683
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg5 |
A |
T |
8: 95,660,570 (GRCm39) |
T70S |
probably damaging |
Het |
| Adora1 |
T |
C |
1: 134,161,777 (GRCm39) |
Y106C |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,180,590 (GRCm39) |
N250K |
probably benign |
Het |
| Ap2b1 |
A |
T |
11: 83,226,317 (GRCm39) |
Y238F |
possibly damaging |
Het |
| Birc6 |
G |
A |
17: 74,919,215 (GRCm39) |
S2015N |
possibly damaging |
Het |
| C7 |
A |
G |
15: 5,037,136 (GRCm39) |
F581L |
probably damaging |
Het |
| Cd27 |
A |
T |
6: 125,210,627 (GRCm39) |
H203Q |
probably damaging |
Het |
| Cdk2 |
A |
G |
10: 128,535,456 (GRCm39) |
V274A |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,949,583 (GRCm39) |
T1351A |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,839,523 (GRCm39) |
L1353P |
probably damaging |
Het |
| Dcc |
C |
T |
18: 71,503,764 (GRCm39) |
V945M |
probably damaging |
Het |
| Dio1 |
A |
G |
4: 107,154,922 (GRCm39) |
V118A |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,251,379 (GRCm39) |
T1818M |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,971,672 (GRCm39) |
M165K |
probably benign |
Het |
| Eif5b |
A |
G |
1: 38,085,741 (GRCm39) |
I929V |
probably benign |
Het |
| F5 |
T |
A |
1: 164,014,471 (GRCm39) |
S581T |
probably damaging |
Het |
| Fanca |
A |
C |
8: 124,013,216 (GRCm39) |
I761S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,173,067 (GRCm39) |
T2549A |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,299,929 (GRCm39) |
L281P |
probably damaging |
Het |
| Gm19410 |
C |
A |
8: 36,239,733 (GRCm39) |
A143E |
probably damaging |
Het |
| Gm5431 |
T |
C |
11: 48,779,803 (GRCm39) |
D651G |
probably damaging |
Het |
| Ivd |
G |
T |
2: 118,700,242 (GRCm39) |
V90L |
probably benign |
Het |
| Klhdc7b |
A |
G |
15: 89,272,559 (GRCm39) |
Y1147C |
possibly damaging |
Het |
| Mlh1 |
G |
A |
9: 111,070,626 (GRCm39) |
T363M |
possibly damaging |
Het |
| Ndufa3 |
A |
T |
7: 3,622,476 (GRCm39) |
I45F |
probably damaging |
Het |
| Nell2 |
T |
C |
15: 95,139,468 (GRCm39) |
D588G |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,360,996 (GRCm39) |
N253S |
probably benign |
Het |
| Nlrp4c |
T |
A |
7: 6,069,754 (GRCm39) |
F552I |
probably damaging |
Het |
| Or51g1 |
A |
C |
7: 102,634,042 (GRCm39) |
S110A |
probably damaging |
Het |
| Or5j3 |
G |
A |
2: 86,128,267 (GRCm39) |
A36T |
probably benign |
Het |
| Pcdhga12 |
T |
C |
18: 37,900,232 (GRCm39) |
S355P |
probably benign |
Het |
| Pcdhga7 |
A |
T |
18: 37,848,926 (GRCm39) |
Y311F |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,088 (GRCm39) |
|
probably null |
Het |
| Plscr4 |
G |
A |
9: 92,365,889 (GRCm39) |
V120I |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,287,457 (GRCm39) |
V480A |
probably benign |
Het |
| Psrc1 |
A |
T |
3: 108,292,664 (GRCm39) |
K152N |
possibly damaging |
Het |
| Ptcd3 |
A |
C |
6: 71,862,516 (GRCm39) |
V473G |
probably damaging |
Het |
| Rab11fip1 |
ACTCT |
ACT |
8: 27,642,760 (GRCm39) |
|
probably null |
Het |
| Semp2l2b |
C |
T |
10: 21,942,616 (GRCm39) |
G455R |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,805,577 (GRCm39) |
|
probably null |
Het |
| Slc24a1 |
A |
G |
9: 64,855,605 (GRCm39) |
V434A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,668,609 (GRCm39) |
V432E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,989,659 (GRCm39) |
T1847M |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tes |
C |
A |
6: 17,104,651 (GRCm39) |
N377K |
probably benign |
Het |
| Tfip11 |
T |
A |
5: 112,481,463 (GRCm39) |
I452N |
probably benign |
Het |
| Tgfbi |
T |
C |
13: 56,785,016 (GRCm39) |
S658P |
probably benign |
Het |
| Tmx4 |
A |
C |
2: 134,462,594 (GRCm39) |
D112E |
probably damaging |
Het |
| Tnn |
G |
T |
1: 159,932,412 (GRCm39) |
D1367E |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,850,815 (GRCm39) |
N323S |
possibly damaging |
Het |
| Usp40 |
T |
C |
1: 87,908,755 (GRCm39) |
D582G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,600,296 (GRCm39) |
K440R |
probably benign |
Het |
| Zfp707 |
T |
A |
15: 75,846,748 (GRCm39) |
L193Q |
probably damaging |
Het |
| Zfp748 |
T |
C |
13: 67,689,844 (GRCm39) |
Y472C |
probably 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 |
|
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 |
|
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'- AGCTAGTCTGTCTTCAGCCG -3'
(R):5'- AAGGCAGTAGGTGATCTTTCTGC -3'
Sequencing Primer
(F):5'- CAGCCGCCTTTTTATGTAGAG -3'
(R):5'- CTGCTTTCATGGAGAGGTCGC -3'
|
| Posted On |
2019-04-04 |
Incidental Mutation