Incidental Mutation 'R1413:Hook3'
| ID |
159701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
039469-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26528134 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 585
(E585D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037182
AA Change: E585D
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E585D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147613
AA Change: E225D
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: E225D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
1 |
194 |
1.1e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211777
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 91.2%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,573,245 (GRCm39) |
N1051D |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,536,222 (GRCm39) |
V1504A |
probably damaging |
Het |
| Actr6 |
A |
T |
10: 89,564,019 (GRCm39) |
Y84* |
probably null |
Het |
| Adgrl3 |
T |
C |
5: 81,841,366 (GRCm39) |
Y816H |
probably damaging |
Het |
| Ahcyl2 |
T |
C |
6: 29,768,586 (GRCm39) |
|
probably benign |
Het |
| Amd1 |
A |
T |
10: 40,166,404 (GRCm39) |
C157* |
probably null |
Het |
| Ank1 |
G |
A |
8: 23,609,393 (GRCm39) |
E1362K |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,391 (GRCm39) |
Q1018R |
probably benign |
Het |
| Atp1a2 |
G |
A |
1: 172,106,911 (GRCm39) |
T803I |
probably damaging |
Het |
| Atr |
T |
G |
9: 95,814,495 (GRCm39) |
L2064R |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,264 (GRCm39) |
L229Q |
probably damaging |
Het |
| Ccl25 |
A |
G |
8: 4,403,892 (GRCm39) |
*54W |
probably null |
Het |
| Cdc45 |
A |
T |
16: 18,627,491 (GRCm39) |
N111K |
possibly damaging |
Het |
| Cfap61 |
T |
A |
2: 145,805,363 (GRCm39) |
S154T |
probably benign |
Het |
| Cyp2c37 |
T |
A |
19: 39,982,542 (GRCm39) |
S127T |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,892,913 (GRCm39) |
D309E |
probably benign |
Het |
| D6Ertd527e |
A |
G |
6: 87,088,335 (GRCm39) |
D166G |
unknown |
Het |
| Dmbt1 |
T |
A |
7: 130,651,944 (GRCm39) |
D395E |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,370,555 (GRCm39) |
S2832G |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fah |
T |
C |
7: 84,242,420 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83g |
A |
G |
11: 61,593,504 (GRCm39) |
N346S |
probably damaging |
Het |
| Fgl1 |
T |
A |
8: 41,644,638 (GRCm39) |
T289S |
possibly damaging |
Het |
| Fmo1 |
A |
C |
1: 162,661,431 (GRCm39) |
L284R |
probably damaging |
Het |
| Frem3 |
T |
A |
8: 81,395,430 (GRCm39) |
M1819K |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,818,762 (GRCm39) |
L4832M |
possibly damaging |
Het |
| Fut1 |
T |
C |
7: 45,268,852 (GRCm39) |
W269R |
probably damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,723,955 (GRCm39) |
Y638H |
probably damaging |
Het |
| Gp2 |
T |
A |
7: 119,050,853 (GRCm39) |
I293F |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,929,580 (GRCm39) |
N20S |
probably benign |
Het |
| Gxylt1 |
C |
T |
15: 93,152,273 (GRCm39) |
R222H |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,091 (GRCm39) |
K382E |
possibly damaging |
Het |
| Irf6 |
G |
A |
1: 192,851,613 (GRCm39) |
M401I |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,085,529 (GRCm39) |
T2259A |
probably damaging |
Het |
| Lactb |
T |
A |
9: 66,878,201 (GRCm39) |
R209S |
probably damaging |
Het |
| Lonp2 |
A |
G |
8: 87,368,212 (GRCm39) |
D342G |
probably damaging |
Het |
| Mmachc |
T |
C |
4: 116,563,194 (GRCm39) |
S54G |
probably damaging |
Het |
| Mpp7 |
C |
A |
18: 7,350,977 (GRCm39) |
W573C |
probably damaging |
Het |
| Or13e8 |
T |
A |
4: 43,697,011 (GRCm39) |
H54L |
possibly damaging |
Het |
| Or5w1b |
T |
A |
2: 87,476,182 (GRCm39) |
Y95F |
probably benign |
Het |
| Or6b2b |
A |
T |
1: 92,418,610 (GRCm39) |
I289N |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,764,124 (GRCm39) |
D462E |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,416,496 (GRCm39) |
F210I |
probably damaging |
Het |
| Ppp1r12c |
A |
G |
7: 4,487,443 (GRCm39) |
|
probably null |
Het |
| Prkce |
T |
A |
17: 86,803,446 (GRCm39) |
D448E |
possibly damaging |
Het |
| Ptprb |
C |
A |
10: 116,175,584 (GRCm39) |
T1193K |
probably damaging |
Het |
| Qrfpr |
T |
A |
3: 36,236,809 (GRCm39) |
E197D |
possibly damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,568 (GRCm39) |
C625S |
probably benign |
Het |
| Shcbp1 |
T |
G |
8: 4,791,968 (GRCm39) |
|
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spag5 |
T |
A |
11: 78,196,143 (GRCm39) |
C449* |
probably null |
Het |
| Stpg3 |
T |
C |
2: 25,103,862 (GRCm39) |
D158G |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,989,590 (GRCm39) |
Y1423C |
probably benign |
Het |
| Tiprl |
C |
T |
1: 165,043,359 (GRCm39) |
E256K |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,631 (GRCm39) |
V934D |
probably damaging |
Het |
| Topors |
A |
G |
4: 40,261,982 (GRCm39) |
V434A |
probably benign |
Het |
| Usp11 |
A |
G |
X: 20,584,946 (GRCm39) |
Y731C |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,513,387 (GRCm39) |
I419L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,139,422 (GRCm39) |
R72L |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,426,201 (GRCm39) |
D2525G |
unknown |
Het |
| Zfp280c |
A |
G |
X: 47,652,715 (GRCm39) |
V285A |
probably benign |
Het |
| Zfp511 |
T |
A |
7: 139,617,528 (GRCm39) |
F177I |
probably damaging |
Het |
| Zfp964 |
A |
G |
8: 70,115,720 (GRCm39) |
M107V |
unknown |
Het |
| Zmynd11 |
A |
G |
13: 9,760,256 (GRCm39) |
Y122H |
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 |
|
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 |
|
|
R6448:Hook3
|
UTSW |
8 |
26,583,692 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- ATACTTCCAGGCTAGAGGACAGCATCG -3'
(R):5'- TGAGCCTCACACTGCCCACC -3'
Sequencing Primer
(F):5'- AGGACAGCATCGCTGGG -3'
(R):5'- acaaccatccgtaacaagacc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation