Incidental Mutation 'R8072:Hook2'
| ID |
620290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook2
|
| Ensembl Gene |
ENSMUSG00000052566 |
| Gene Name |
hook microtubule tethering protein 2 |
| Synonyms |
A630054I03Rik |
| MMRRC Submission |
067507-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R8072 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
85717232-85729978 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85721120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 184
(V184M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064495]
[ENSMUST00000209764]
[ENSMUST00000210326]
|
| AlphaFold |
Q7TMK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064495
AA Change: V184M
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000067752
Gene: ENSMUSG00000052566
AA Change: V184M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
8 |
703 |
2.3e-277 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209764
AA Change: V184M
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210326
AA Change: V184M
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,244,574 (GRCm39) |
S2146P |
probably benign |
Het |
| Acad9 |
G |
A |
3: 36,129,404 (GRCm39) |
V160I |
probably benign |
Het |
| Ace |
T |
C |
11: 105,863,785 (GRCm39) |
V411A |
probably damaging |
Het |
| Ankrd66 |
T |
C |
17: 43,854,526 (GRCm39) |
E2G |
possibly damaging |
Het |
| Apol6 |
A |
T |
15: 76,935,303 (GRCm39) |
T191S |
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,531,004 (GRCm39) |
T352S |
probably benign |
Het |
| Atad2 |
C |
T |
15: 57,963,374 (GRCm39) |
R1081Q |
possibly damaging |
Het |
| Atg3 |
G |
T |
16: 45,008,048 (GRCm39) |
V297F |
probably damaging |
Het |
| Atp9b |
A |
C |
18: 80,808,276 (GRCm39) |
S663A |
|
Het |
| Col10a1 |
G |
T |
10: 34,266,663 (GRCm39) |
V16F |
unknown |
Het |
| Col3a1 |
G |
A |
1: 45,360,734 (GRCm39) |
V55I |
unknown |
Het |
| Ctns |
T |
C |
11: 73,082,572 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,365,431 (GRCm39) |
I468N |
probably damaging |
Het |
| Dcbld2 |
G |
A |
16: 58,283,460 (GRCm39) |
W565* |
probably null |
Het |
| Esco2 |
A |
T |
14: 66,070,130 (GRCm39) |
N16K |
probably benign |
Het |
| Fggy |
A |
G |
4: 95,732,394 (GRCm39) |
N462D |
possibly damaging |
Het |
| Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
T |
C |
1: 166,322,241 (GRCm39) |
T109A |
probably benign |
Het |
| H2-M11 |
G |
T |
17: 36,859,026 (GRCm39) |
V189L |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,532,256 (GRCm39) |
T3175S |
possibly damaging |
Het |
| Hspa4l |
A |
T |
3: 40,741,178 (GRCm39) |
D730V |
probably damaging |
Het |
| Igkv4-68 |
C |
T |
6: 69,282,113 (GRCm39) |
M19I |
probably benign |
Het |
| Igsf9b |
C |
A |
9: 27,228,660 (GRCm39) |
T140N |
possibly damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,308,593 (GRCm39) |
R339Q |
probably damaging |
Het |
| Lcn8 |
T |
G |
2: 25,545,184 (GRCm39) |
L118W |
probably damaging |
Het |
| Lin28a |
A |
G |
4: 133,745,453 (GRCm39) |
F47L |
possibly damaging |
Het |
| Loxl4 |
T |
C |
19: 42,596,021 (GRCm39) |
E144G |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrgprb1 |
C |
A |
7: 48,097,895 (GRCm39) |
E6* |
probably null |
Het |
| Mthfsd |
A |
C |
8: 121,825,555 (GRCm39) |
Y339D |
probably damaging |
Het |
| Mup11 |
A |
T |
4: 60,615,777 (GRCm39) |
F153L |
probably damaging |
Het |
| Pcdhac2 |
G |
A |
18: 37,278,717 (GRCm39) |
V566M |
probably benign |
Het |
| Plpp7 |
G |
T |
2: 31,986,121 (GRCm39) |
A100S |
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,774 (GRCm39) |
T300A |
possibly damaging |
Het |
| Ptprd |
A |
G |
4: 76,004,273 (GRCm39) |
F161L |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,007,930 (GRCm39) |
A875V |
possibly damaging |
Het |
| Rhd |
A |
G |
4: 134,611,460 (GRCm39) |
T207A |
possibly damaging |
Het |
| Sh2d3c |
C |
T |
2: 32,643,150 (GRCm39) |
R778C |
probably damaging |
Het |
| Slc34a3 |
A |
C |
2: 25,119,289 (GRCm39) |
V527G |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,420,022 (GRCm39) |
|
probably null |
Het |
| Sp110 |
GTACT |
GTACTACT |
1: 85,515,207 (GRCm39) |
|
probably benign |
Het |
| Spata21 |
C |
T |
4: 140,839,317 (GRCm39) |
Q611* |
probably null |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tial1 |
T |
C |
7: 128,044,194 (GRCm39) |
T107A |
unknown |
Het |
| Ubxn6 |
C |
A |
17: 56,380,195 (GRCm39) |
R42L |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,947,142 (GRCm39) |
N473I |
probably damaging |
Het |
| Ythdc1 |
T |
A |
5: 86,969,133 (GRCm39) |
Y351* |
probably null |
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 |
|
R5597:Hook2
|
UTSW |
8 |
85,720,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTCTTAGGACCCCAGCCCAG -3'
(R):5'- CTAGCTGTGACTGCAGAAGC -3'
Sequencing Primer
(F):5'- CCAGTCTTAAATCCTGGGGC -3'
(R):5'- CTTCTTAGCTGTGAGGCCCG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation