Incidental Mutation 'R2027:Hook3'
| ID |
220800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
040035-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26528126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 588
(E588G)
|
| 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: E588G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: E588G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147613
AA Change: E228G
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: E228G
| 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
|
| Meta Mutation Damage Score |
0.0713 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (70/70) |
| 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 |
|---|
| A4gnt |
T |
C |
9: 99,502,254 (GRCm39) |
V138A |
possibly damaging |
Het |
| Aatk |
A |
G |
11: 119,900,143 (GRCm39) |
S1291P |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,743,301 (GRCm39) |
V67M |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,298 (GRCm39) |
V300M |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,438 (GRCm39) |
V112E |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,110 (GRCm39) |
|
probably benign |
Het |
| Cabp2 |
T |
A |
19: 4,137,126 (GRCm39) |
M166K |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,828,538 (GRCm39) |
V1062A |
possibly damaging |
Het |
| Cap1 |
T |
G |
4: 122,756,686 (GRCm39) |
|
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,779,385 (GRCm39) |
Y141H |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,892,522 (GRCm39) |
Y181C |
probably damaging |
Het |
| Ccdc107 |
T |
C |
4: 43,495,874 (GRCm39) |
V259A |
probably benign |
Het |
| Ccn4 |
A |
G |
15: 66,789,258 (GRCm39) |
E248G |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,634,619 (GRCm39) |
|
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,171,216 (GRCm39) |
D79V |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,553,075 (GRCm39) |
|
probably null |
Het |
| Cuzd1 |
T |
C |
7: 130,921,820 (GRCm39) |
T61A |
possibly damaging |
Het |
| Dbp |
C |
A |
7: 45,357,700 (GRCm39) |
D89E |
probably benign |
Het |
| Dhps |
A |
T |
8: 85,799,240 (GRCm39) |
N140Y |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,330,974 (GRCm39) |
L158* |
probably null |
Het |
| Dnah9 |
T |
G |
11: 65,846,164 (GRCm39) |
N2958T |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,986,056 (GRCm39) |
Y849N |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,716,061 (GRCm39) |
|
probably benign |
Het |
| Efemp1 |
A |
T |
11: 28,864,696 (GRCm39) |
Y250F |
possibly damaging |
Het |
| Faxc |
T |
C |
4: 21,958,439 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
G |
T |
8: 81,421,966 (GRCm39) |
C2122F |
possibly damaging |
Het |
| Gan |
T |
C |
8: 117,914,238 (GRCm39) |
|
probably null |
Het |
| Gnl1 |
A |
G |
17: 36,293,850 (GRCm39) |
N274D |
probably benign |
Het |
| Itpr1 |
C |
A |
6: 108,363,814 (GRCm39) |
S812Y |
possibly damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,317,075 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,265,711 (GRCm39) |
A4821T |
probably damaging |
Het |
| Mepe |
T |
C |
5: 104,474,957 (GRCm39) |
S13P |
possibly damaging |
Het |
| Msantd5f6 |
A |
G |
4: 73,321,295 (GRCm39) |
I154T |
possibly damaging |
Het |
| Myh11 |
A |
G |
16: 14,050,532 (GRCm39) |
Y478H |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,118,013 (GRCm39) |
V871A |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,365,862 (GRCm39) |
M466K |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,406 (GRCm39) |
I312T |
probably benign |
Het |
| Or52r1b |
A |
T |
7: 102,690,731 (GRCm39) |
H15L |
probably benign |
Het |
| Or5aq1b |
T |
A |
2: 86,901,897 (GRCm39) |
N194Y |
possibly damaging |
Het |
| Or5m13 |
A |
C |
2: 85,749,114 (GRCm39) |
S282R |
probably damaging |
Het |
| Or9k2 |
A |
G |
10: 129,998,604 (GRCm39) |
I197T |
probably benign |
Het |
| Or9s23 |
A |
T |
1: 92,501,489 (GRCm39) |
T199S |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,578,358 (GRCm39) |
T97A |
probably benign |
Het |
| Peli2 |
G |
A |
14: 48,493,602 (GRCm39) |
E275K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,950,057 (GRCm39) |
Y1320C |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,398,007 (GRCm39) |
V795A |
probably damaging |
Het |
| Pramel5 |
A |
G |
4: 143,998,274 (GRCm39) |
L323P |
probably damaging |
Het |
| Prr5 |
A |
T |
15: 84,585,580 (GRCm39) |
R183W |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,237,620 (GRCm39) |
D231G |
possibly damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rc3h1 |
C |
T |
1: 160,782,507 (GRCm39) |
P662L |
probably benign |
Het |
| Rpl7a-ps5 |
G |
T |
17: 58,146,090 (GRCm39) |
Q47K |
probably benign |
Het |
| Sclt1 |
G |
A |
3: 41,685,323 (GRCm39) |
T45I |
probably benign |
Het |
| Slc22a17 |
A |
G |
14: 55,145,543 (GRCm39) |
I202T |
probably damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,073,487 (GRCm39) |
L457S |
probably damaging |
Het |
| Slc44a3 |
T |
C |
3: 121,257,059 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
G |
A |
7: 35,153,562 (GRCm39) |
V188M |
probably damaging |
Het |
| Spata31d1e |
A |
G |
13: 59,890,401 (GRCm39) |
M55T |
possibly damaging |
Het |
| Tmem161a |
T |
A |
8: 70,630,170 (GRCm39) |
F119I |
probably damaging |
Het |
| Tmem240 |
A |
G |
4: 155,819,892 (GRCm39) |
D32G |
possibly damaging |
Het |
| Tmtc4 |
T |
C |
14: 123,158,677 (GRCm39) |
N682S |
probably benign |
Het |
| Uqcrc1 |
G |
A |
9: 108,776,083 (GRCm39) |
V262M |
probably benign |
Het |
| Vmn1r87 |
G |
A |
7: 12,865,823 (GRCm39) |
R155C |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,334 (GRCm39) |
Q236L |
probably benign |
Het |
| Vmn2r97 |
T |
A |
17: 19,149,944 (GRCm39) |
I444N |
unknown |
Het |
| Yif1a |
A |
T |
19: 5,139,900 (GRCm39) |
H115L |
probably damaging |
Het |
| Zfp280b |
T |
C |
10: 75,874,328 (GRCm39) |
L69S |
probably damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,520 (GRCm39) |
E464* |
probably null |
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 |
|
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'- TGCTTAGAAGGCTTCTTTGATGA -3'
(R):5'- CACCTGGAGCTGCTTCTG -3'
Sequencing Primer
(F):5'- CTTAGAAGGCTTCTTTGATGATTTTC -3'
(R):5'- CTGAAGGCAGCTACAGTGTACTTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation