Incidental Mutation 'R5597:Hook2'
| ID |
437879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook2
|
| Ensembl Gene |
ENSMUSG00000052566 |
| Gene Name |
hook microtubule tethering protein 2 |
| Synonyms |
A630054I03Rik |
| MMRRC Submission |
043149-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R5597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85717232-85729978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 85720657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 166
(N166S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064495]
[ENSMUST00000209764]
[ENSMUST00000210326]
|
| AlphaFold |
Q7TMK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064495
AA Change: N166S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: N166S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
8 |
703 |
2.3e-277 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209652
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209764
AA Change: N166S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210326
AA Change: N166S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (55/55) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,927,363 (GRCm39) |
T1330I |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,816,487 (GRCm39) |
V322A |
probably benign |
Het |
| Anks3 |
T |
A |
16: 4,771,793 (GRCm39) |
H77L |
possibly damaging |
Het |
| Bsn |
A |
T |
9: 107,992,131 (GRCm39) |
M1207K |
probably benign |
Het |
| Btla |
A |
G |
16: 45,064,599 (GRCm39) |
T183A |
probably benign |
Het |
| Cdca8 |
G |
A |
4: 124,812,793 (GRCm39) |
R286W |
probably damaging |
Het |
| Cnot6l |
T |
C |
5: 96,278,978 (GRCm39) |
D80G |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,952,097 (GRCm39) |
D93G |
probably damaging |
Het |
| Ctsk |
T |
C |
3: 95,409,007 (GRCm39) |
V130A |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,591 (GRCm39) |
E2294G |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,386,817 (GRCm39) |
S436R |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,573,611 (GRCm39) |
L1792H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,231,794 (GRCm39) |
V3307A |
probably benign |
Het |
| Frrs1 |
C |
T |
3: 116,671,887 (GRCm39) |
|
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,667,698 (GRCm39) |
L151P |
probably damaging |
Het |
| Hp1bp3 |
A |
T |
4: 137,948,939 (GRCm39) |
M1L |
possibly damaging |
Het |
| Igkv4-56 |
T |
A |
6: 69,564,467 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm6b |
C |
T |
11: 69,296,900 (GRCm39) |
A456T |
probably damaging |
Het |
| Lamc1 |
A |
G |
1: 153,127,716 (GRCm39) |
C396R |
probably damaging |
Het |
| Lars2 |
A |
T |
9: 123,284,047 (GRCm39) |
D745V |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,433,570 (GRCm39) |
|
probably benign |
Het |
| Mapk4 |
T |
A |
18: 74,070,341 (GRCm39) |
Y184F |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,325,303 (GRCm39) |
Y390C |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,030,789 (GRCm39) |
S889P |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,382,978 (GRCm39) |
S100P |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,878,506 (GRCm39) |
H154L |
probably benign |
Het |
| Olig2 |
A |
T |
16: 91,023,768 (GRCm39) |
M161L |
probably benign |
Het |
| Or2ah1 |
T |
C |
2: 85,653,804 (GRCm39) |
L163P |
probably damaging |
Het |
| Or5h24 |
A |
T |
16: 58,918,710 (GRCm39) |
V215D |
unknown |
Het |
| Or6c214 |
T |
C |
10: 129,590,755 (GRCm39) |
D188G |
probably damaging |
Het |
| Palmd |
T |
A |
3: 116,717,225 (GRCm39) |
D424V |
probably damaging |
Het |
| Pdzk1ip1 |
A |
G |
4: 114,950,689 (GRCm39) |
N164D |
probably damaging |
Het |
| Prkag1 |
A |
G |
15: 98,713,789 (GRCm39) |
S14P |
probably damaging |
Het |
| Prss12 |
C |
T |
3: 123,258,389 (GRCm39) |
P161L |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,573,422 (GRCm39) |
V168A |
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,024 (GRCm39) |
D79G |
probably damaging |
Het |
| Rgs3 |
A |
T |
4: 62,542,082 (GRCm39) |
I19F |
probably damaging |
Het |
| Slc30a10 |
C |
A |
1: 185,194,897 (GRCm39) |
H236Q |
probably damaging |
Het |
| Slco3a1 |
C |
A |
7: 73,934,210 (GRCm39) |
R654L |
probably benign |
Het |
| Smad4 |
A |
C |
18: 73,795,898 (GRCm39) |
F165L |
probably benign |
Het |
| Swsap1 |
G |
T |
9: 21,867,242 (GRCm39) |
R62M |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,202,724 (GRCm39) |
M113K |
probably benign |
Het |
| Tmem225 |
A |
G |
9: 40,060,726 (GRCm39) |
N95S |
possibly damaging |
Het |
| Tnni3k |
A |
T |
3: 154,577,765 (GRCm39) |
L658H |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,840 (GRCm39) |
V202I |
probably benign |
Het |
| Tyw1 |
C |
T |
5: 130,303,498 (GRCm39) |
L289F |
probably benign |
Het |
| Vcam1 |
T |
A |
3: 115,919,651 (GRCm39) |
D205V |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,073 (GRCm39) |
D377G |
probably benign |
Het |
| Yy1 |
A |
G |
12: 108,781,436 (GRCm39) |
D367G |
probably damaging |
Het |
| Zfp11 |
A |
T |
5: 129,734,166 (GRCm39) |
C432S |
probably benign |
Het |
|
| Other mutations in Hook2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Hook2
|
APN |
8 |
85,729,126 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01161:Hook2
|
APN |
8 |
85,721,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01535:Hook2
|
APN |
8 |
85,729,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01668:Hook2
|
APN |
8 |
85,720,207 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01749:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01750:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01753:Hook2
|
APN |
8 |
85,719,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01900:Hook2
|
APN |
8 |
85,727,940 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02157:Hook2
|
APN |
8 |
85,727,779 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02175:Hook2
|
APN |
8 |
85,718,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02350:Hook2
|
APN |
8 |
85,721,614 (GRCm39) |
nonsense |
probably null |
|
|
IGL02357:Hook2
|
APN |
8 |
85,721,614 (GRCm39) |
nonsense |
probably null |
|
|
IGL03377:Hook2
|
APN |
8 |
85,727,964 (GRCm39) |
nonsense |
probably null |
|
|
R0399:Hook2
|
UTSW |
8 |
85,720,196 (GRCm39) |
splice site |
probably benign |
|
|
R1133:Hook2
|
UTSW |
8 |
85,722,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Hook2
|
UTSW |
8 |
85,729,320 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2277:Hook2
|
UTSW |
8 |
85,729,560 (GRCm39) |
nonsense |
probably null |
|
|
R2398:Hook2
|
UTSW |
8 |
85,717,928 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3406:Hook2
|
UTSW |
8 |
85,720,613 (GRCm39) |
splice site |
probably benign |
|
|
R4752:Hook2
|
UTSW |
8 |
85,729,349 (GRCm39) |
nonsense |
probably null |
|
|
R5014:Hook2
|
UTSW |
8 |
85,718,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Hook2
|
UTSW |
8 |
85,720,028 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5195:Hook2
|
UTSW |
8 |
85,721,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5360:Hook2
|
UTSW |
8 |
85,728,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Hook2
|
UTSW |
8 |
85,729,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5843:Hook2
|
UTSW |
8 |
85,717,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5931:Hook2
|
UTSW |
8 |
85,722,375 (GRCm39) |
nonsense |
probably null |
|
|
R5942:Hook2
|
UTSW |
8 |
85,721,409 (GRCm39) |
splice site |
probably null |
|
|
R6120:Hook2
|
UTSW |
8 |
85,724,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6167:Hook2
|
UTSW |
8 |
85,721,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Hook2
|
UTSW |
8 |
85,729,627 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6992:Hook2
|
UTSW |
8 |
85,729,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7058:Hook2
|
UTSW |
8 |
85,724,040 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7101:Hook2
|
UTSW |
8 |
85,723,680 (GRCm39) |
missense |
probably benign |
|
|
R7177:Hook2
|
UTSW |
8 |
85,718,046 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8072:Hook2
|
UTSW |
8 |
85,721,120 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCAGAATCCAGCAGCC -3'
(R):5'- TAATCTCAGCTACAAGCCAGG -3'
Sequencing Primer
(F):5'- CAGCCTCAAAAGTTGTGGTC -3'
(R):5'- CAGGCAGTCCCAGGAGAATC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation