Incidental Mutation 'R6124:Hook3'
| ID |
485877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
044271-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6124 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26021421-26119224 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26059272 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 181
(N181K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037182
AA Change: N500K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: N500K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147613
AA Change: N181K
PolyPhen 2
Score 0.200 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: N181K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
1 |
194 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210389
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310050C09Rik |
G |
T |
3: 92,869,058 (GRCm38) |
P106Q |
probably damaging |
Het |
| 2900026A02Rik |
T |
C |
5: 113,183,756 (GRCm38) |
N864S |
probably benign |
Het |
| Ank2 |
C |
T |
3: 127,248,151 (GRCm38) |
V35M |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,306,351 (GRCm38) |
M368T |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,529,681 (GRCm38) |
T413M |
probably damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,589,660 (GRCm38) |
L86P |
probably damaging |
Het |
| Cyfip1 |
A |
G |
7: 55,897,943 (GRCm38) |
Y598C |
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,030,045 (GRCm38) |
N2428D |
probably benign |
Het |
| Fastkd3 |
C |
T |
13: 68,590,218 (GRCm38) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,645,329 (GRCm38) |
A24T |
probably benign |
Het |
| Gm156 |
A |
T |
6: 129,768,135 (GRCm38) |
F166Y |
probably benign |
Het |
| Gm5422 |
A |
G |
10: 31,249,400 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9913 |
T |
A |
2: 125,506,473 (GRCm38) |
|
probably benign |
Het |
| Hgfac |
A |
G |
5: 35,044,384 (GRCm38) |
N287S |
probably benign |
Het |
| Hormad1 |
A |
G |
3: 95,576,302 (GRCm38) |
T142A |
probably benign |
Het |
| Lonrf1 |
T |
A |
8: 36,229,200 (GRCm38) |
N565I |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 84,925,307 (GRCm38) |
S349P |
probably benign |
Het |
| Mcee |
T |
A |
7: 64,400,275 (GRCm38) |
N51K |
probably damaging |
Het |
| Mfsd6 |
A |
C |
1: 52,708,252 (GRCm38) |
F485V |
probably damaging |
Het |
| Mptx2 |
G |
A |
1: 173,274,847 (GRCm38) |
L92F |
probably benign |
Het |
| Nlrp6 |
T |
A |
7: 140,923,247 (GRCm38) |
V422E |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,386,026 (GRCm38) |
S23P |
probably damaging |
Het |
| Nsd2 |
T |
A |
5: 33,843,266 (GRCm38) |
H42Q |
probably benign |
Het |
| Obscn |
A |
T |
11: 59,079,044 (GRCm38) |
S91T |
probably benign |
Het |
| Olfr1337 |
C |
A |
4: 118,782,195 (GRCm38) |
C130F |
probably damaging |
Het |
| Olfr215 |
T |
C |
6: 116,582,485 (GRCm38) |
I154V |
probably benign |
Het |
| Olfr418 |
T |
A |
1: 173,270,279 (GRCm38) |
Y35N |
probably damaging |
Het |
| Olfr497 |
A |
T |
7: 108,423,518 (GRCm38) |
|
probably null |
Het |
| Olfr53 |
A |
T |
7: 140,652,594 (GRCm38) |
D205V |
probably damaging |
Het |
| Olfr811 |
C |
A |
10: 129,801,821 (GRCm38) |
A235S |
probably damaging |
Het |
| Olfr811 |
G |
A |
10: 129,801,820 (GRCm38) |
A235V |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,637,128 (GRCm38) |
N81K |
probably damaging |
Het |
| Plekhn1 |
A |
G |
4: 156,225,239 (GRCm38) |
I147T |
possibly damaging |
Het |
| Ptgfrn |
C |
T |
3: 101,073,089 (GRCm38) |
E312K |
probably damaging |
Het |
| Serpinb1b |
T |
C |
13: 33,093,813 (GRCm38) |
V343A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,953,211 (GRCm38) |
N261S |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,297,252 (GRCm38) |
N310S |
probably damaging |
Het |
| Slco3a1 |
C |
T |
7: 74,318,506 (GRCm38) |
D489N |
probably benign |
Het |
| Snrnp48 |
T |
A |
13: 38,216,463 (GRCm38) |
I182N |
possibly damaging |
Het |
| Tppp2 |
A |
T |
14: 51,919,480 (GRCm38) |
T105S |
probably benign |
Het |
| Vav3 |
C |
T |
3: 109,664,365 (GRCm38) |
T201M |
probably damaging |
Het |
| Vmn1r19 |
A |
C |
6: 57,404,617 (GRCm38) |
M52L |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,244,059 (GRCm38) |
R656S |
probably benign |
Het |
|
| Other mutations in Hook3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00695:Hook3
|
APN |
8 |
26,059,250 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL01066:Hook3
|
APN |
8 |
26,048,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01145:Hook3
|
APN |
8 |
26,059,344 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01514:Hook3
|
APN |
8 |
26,088,189 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
IGL01727:Hook3
|
APN |
8 |
26,070,159 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01832:Hook3
|
APN |
8 |
26,072,365 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL01874:Hook3
|
APN |
8 |
26,039,732 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL01931:Hook3
|
APN |
8 |
26,088,055 (GRCm38) |
splice site |
probably benign |
|
|
IGL01948:Hook3
|
APN |
8 |
26,059,312 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02209:Hook3
|
APN |
8 |
26,070,265 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02675:Hook3
|
APN |
8 |
26,061,434 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
IGL02750:Hook3
|
APN |
8 |
26,095,754 (GRCm38) |
splice site |
probably benign |
|
|
Rufio
|
UTSW |
8 |
26,034,940 (GRCm38) |
nonsense |
probably null |
|
|
R0384:Hook3
|
UTSW |
8 |
26,044,235 (GRCm38) |
splice site |
probably null |
|
|
R0600:Hook3
|
UTSW |
8 |
26,118,986 (GRCm38) |
missense |
probably benign |
|
|
R1037:Hook3
|
UTSW |
8 |
26,072,350 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1413:Hook3
|
UTSW |
8 |
26,038,106 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1563:Hook3
|
UTSW |
8 |
26,110,752 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1767:Hook3
|
UTSW |
8 |
26,071,056 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1806:Hook3
|
UTSW |
8 |
26,068,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2025:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2026:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2027:Hook3
|
UTSW |
8 |
26,038,098 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2091:Hook3
|
UTSW |
8 |
26,059,394 (GRCm38) |
splice site |
probably benign |
|
|
R2153:Hook3
|
UTSW |
8 |
26,070,197 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2184:Hook3
|
UTSW |
8 |
26,118,983 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4586:Hook3
|
UTSW |
8 |
26,032,011 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4863:Hook3
|
UTSW |
8 |
26,038,029 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4971:Hook3
|
UTSW |
8 |
26,082,579 (GRCm38) |
missense |
probably benign |
0.22 |
|
R5023:Hook3
|
UTSW |
8 |
26,032,019 (GRCm38) |
frame shift |
probably null |
|
|
R5026:Hook3
|
UTSW |
8 |
26,110,757 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5068:Hook3
|
UTSW |
8 |
26,095,757 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5253:Hook3
|
UTSW |
8 |
26,072,291 (GRCm38) |
missense |
probably benign |
|
|
R5383:Hook3
|
UTSW |
8 |
26,118,989 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5437:Hook3
|
UTSW |
8 |
26,061,422 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5528:Hook3
|
UTSW |
8 |
26,072,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5551:Hook3
|
UTSW |
8 |
26,068,611 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R5846:Hook3
|
UTSW |
8 |
26,044,327 (GRCm38) |
intron |
probably benign |
|
|
R5907:Hook3
|
UTSW |
8 |
26,044,278 (GRCm38) |
intron |
probably benign |
|
|
R6082:Hook3
|
UTSW |
8 |
26,110,785 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6301:Hook3
|
UTSW |
8 |
26,034,940 (GRCm38) |
nonsense |
probably null |
|
|
R6314:Hook3
|
UTSW |
8 |
26,088,108 (GRCm38) |
missense |
probably benign |
|
|
R6448:Hook3
|
UTSW |
8 |
26,093,664 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6810:Hook3
|
UTSW |
8 |
26,032,422 (GRCm38) |
splice site |
probably null |
|
|
R7168:Hook3
|
UTSW |
8 |
26,071,086 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7856:Hook3
|
UTSW |
8 |
26,035,221 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7988:Hook3
|
UTSW |
8 |
26,073,647 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8079:Hook3
|
UTSW |
8 |
26,088,058 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9121:Hook3
|
UTSW |
8 |
26,035,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9223:Hook3
|
UTSW |
8 |
26,032,524 (GRCm38) |
missense |
|
|
|
R9244:Hook3
|
UTSW |
8 |
26,071,056 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9246:Hook3
|
UTSW |
8 |
26,072,291 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAAATCAGAACTGTTGTAATT -3'
(R):5'- GGCACTGAATTTCTTACAGGCAC -3'
Sequencing Primer
(F):5'- TTATTCTCAACAAATGAATCCCAAGC -3'
(R):5'- GGCACTGAATTTTTCATTTGTATCC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation