Incidental Mutation 'R9246:Hook3'
| ID |
701300 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26021421-26119224 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26072291 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 249
(T249A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037182
AA Change: T249A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: T249A
| 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 |
noncoding transcript
Transcript: ENSMUST00000209996
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210172
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211292
|
| Meta Mutation Damage Score |
0.0655 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,580,536 (GRCm38) |
T314I |
probably benign |
Het |
| Abca7 |
G |
A |
10: 80,002,701 (GRCm38) |
S603N |
probably damaging |
Het |
| Abcc2 |
T |
C |
19: 43,798,443 (GRCm38) |
F168L |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 46,124,865 (GRCm38) |
T764A |
probably benign |
Het |
| Acot4 |
A |
C |
12: 84,043,323 (GRCm38) |
I265L |
probably benign |
Het |
| Adrb2 |
C |
A |
18: 62,179,155 (GRCm38) |
A200S |
probably damaging |
Het |
| Atp2c2 |
G |
T |
8: 119,730,250 (GRCm38) |
R197L |
probably damaging |
Het |
| Bmpr1a |
T |
C |
14: 34,434,707 (GRCm38) |
T121A |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 96,002,816 (GRCm38) |
S2051R |
probably benign |
Het |
| Card10 |
T |
C |
15: 78,788,836 (GRCm38) |
E547G |
possibly damaging |
Het |
| Cbln1 |
A |
T |
8: 87,470,420 (GRCm38) |
I139N |
probably damaging |
Het |
| Ccdc86 |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA |
19: 10,948,798 (GRCm38) |
|
probably benign |
Het |
| Cdh16 |
C |
T |
8: 104,617,970 (GRCm38) |
D510N |
probably benign |
Het |
| Cdh2 |
G |
A |
18: 16,648,597 (GRCm38) |
Q146* |
probably null |
Het |
| Cdhr1 |
T |
G |
14: 37,079,697 (GRCm38) |
K763T |
possibly damaging |
Het |
| Cfl1 |
G |
C |
19: 5,493,606 (GRCm38) |
G204R |
probably damaging |
Het |
| Clcn6 |
A |
T |
4: 148,029,409 (GRCm38) |
V64E |
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,453,235 (GRCm38) |
P1649S |
unknown |
Het |
| Ctnna1 |
T |
A |
18: 35,223,509 (GRCm38) |
N410K |
probably benign |
Het |
| Dhx34 |
A |
G |
7: 16,203,237 (GRCm38) |
F845S |
probably damaging |
Het |
| Dnah7c |
T |
G |
1: 46,532,774 (GRCm38) |
N802K |
possibly damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,899,204 (GRCm38) |
S492P |
probably damaging |
Het |
| Fhit |
C |
A |
14: 10,421,494 (GRCm38) |
|
probably null |
Het |
| Fzd2 |
A |
T |
11: 102,605,923 (GRCm38) |
I398F |
possibly damaging |
Het |
| Gm9195 |
A |
G |
14: 72,472,874 (GRCm38) |
S457P |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 93,950,339 (GRCm38) |
K211E |
|
Het |
| Gzme |
T |
C |
14: 56,118,741 (GRCm38) |
D100G |
probably benign |
Het |
| Hoxd4 |
G |
A |
2: 74,728,403 (GRCm38) |
C190Y |
possibly damaging |
Het |
| Hr |
T |
A |
14: 70,571,475 (GRCm38) |
V1097E |
probably damaging |
Het |
| Iqca1l |
T |
G |
5: 24,548,971 (GRCm38) |
E430A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,808,427 (GRCm38) |
K524* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,333,474 (GRCm38) |
T723A |
probably benign |
Het |
| Kif1a |
A |
G |
1: 93,077,779 (GRCm38) |
V91A |
probably damaging |
Het |
| Krtap19-2 |
AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA |
AAAGCCTCCA |
16: 88,873,971 (GRCm38) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,577,902 (GRCm38) |
V1559M |
probably damaging |
Het |
| Maco1 |
A |
G |
4: 134,837,931 (GRCm38) |
V47A |
possibly damaging |
Het |
| Msto1 |
A |
T |
3: 88,912,104 (GRCm38) |
I160N |
probably damaging |
Het |
| Muc5ac |
C |
A |
7: 141,810,478 (GRCm38) |
Q2509K |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,294,509 (GRCm38) |
R163C |
possibly damaging |
Het |
| Nos1 |
G |
C |
5: 117,879,337 (GRCm38) |
R255P |
probably benign |
Het |
| Nup98 |
C |
A |
7: 102,138,830 (GRCm38) |
R1011L |
probably benign |
Het |
| Or1ad8 |
T |
A |
11: 51,007,064 (GRCm38) |
F31I |
probably damaging |
Het |
| Or2ag2b |
C |
T |
7: 106,818,731 (GRCm38) |
T216I |
probably benign |
Het |
| Or52ad1 |
C |
T |
7: 103,346,701 (GRCm38) |
V76I |
probably damaging |
Het |
| Or7e170 |
T |
C |
9: 19,884,390 (GRCm38) |
|
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,314,878 (GRCm38) |
M136K |
probably damaging |
Het |
| Pik3c3 |
C |
A |
18: 30,333,311 (GRCm38) |
A805D |
probably damaging |
Het |
| Pnn |
A |
G |
12: 59,070,143 (GRCm38) |
Q167R |
probably damaging |
Het |
| Pogk |
G |
T |
1: 166,398,811 (GRCm38) |
H590Q |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,605,475 (GRCm38) |
L251P |
probably damaging |
Het |
| Prrc1 |
T |
A |
18: 57,363,136 (GRCm38) |
V53E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 105,618,890 (GRCm38) |
F856S |
unknown |
Het |
| Rnf31 |
G |
A |
14: 55,596,241 (GRCm38) |
A569T |
probably benign |
Het |
| Robo1 |
T |
A |
16: 72,972,290 (GRCm38) |
D532E |
probably benign |
Het |
| Sh2d6 |
T |
A |
6: 72,520,611 (GRCm38) |
K3* |
probably null |
Het |
| Slc22a27 |
T |
C |
19: 7,896,844 (GRCm38) |
T289A |
probably benign |
Het |
| Speg |
T |
C |
1: 75,384,854 (GRCm38) |
S171P |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,888,276 (GRCm38) |
F622I |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,789,574 (GRCm38) |
D589G |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,305,706 (GRCm38) |
I2391M |
probably benign |
Het |
| Sytl2 |
A |
G |
7: 90,358,176 (GRCm38) |
M49V |
probably benign |
Het |
| Tmem185b |
T |
C |
1: 119,526,638 (GRCm38) |
V43A |
probably damaging |
Het |
| Trappc8 |
A |
T |
18: 20,860,533 (GRCm38) |
M499K |
possibly damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,660,168 (GRCm38) |
S159R |
possibly damaging |
Het |
| Vmn1r62 |
A |
G |
7: 5,675,629 (GRCm38) |
Y103C |
probably damaging |
Het |
| Vmn1r65 |
C |
T |
7: 6,008,770 (GRCm38) |
C155Y |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,605,107 (GRCm38) |
V448I |
probably benign |
Het |
| Zfp592 |
A |
T |
7: 81,041,781 (GRCm38) |
D1236V |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,076,503 (GRCm38) |
V568A |
possibly damaging |
Het |
| Zscan4-ps3 |
A |
T |
7: 11,612,393 (GRCm38) |
I147F |
probably damaging |
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 |
|
R6124:Hook3
|
UTSW |
8 |
26,059,272 (GRCm38) |
missense |
probably benign |
0.20 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGTCTATCTGTGTGCGTCAG -3'
(R):5'- CAAGAGTTTGAGTTGGATAACCAC -3'
Sequencing Primer
(F):5'- GCGTCAGAGTTAGCTAATATCTGC -3'
(R):5'- TGAGTTGGATAACCACAGTCC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation