Incidental Mutation 'R6448:Hook3'
| ID |
519251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6448 (G1)
|
| Quality Score |
156.008 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26583692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 87
(N87I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037182
AA Change: N87I
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: N87I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144750
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209542
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
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 |
|
|
R6810:Hook3
|
UTSW |
8 |
26,522,450 (GRCm39) |
splice site |
probably null |
|
|
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'- CCTTTACAAGCATAGGGTGAAAGG -3'
(R):5'- TTCAGCCCACTTGAGACGTC -3'
Sequencing Primer
(F):5'- TCATATTACTGACCTGCTCAACAC -3'
(R):5'- CCCACTTGAGACGTCAGAGAAGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation