Incidental Mutation 'R1806:Hook3'
| ID |
203469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook3
|
| Ensembl Gene |
ENSMUSG00000037234 |
| Gene Name |
hook microtubule tethering protein 3 |
| Synonyms |
E330005F07Rik, 5830454D03Rik |
| MMRRC Submission |
039835-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1806 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
26511449-26609252 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26558687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 59
(L59Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037182]
[ENSMUST00000147613]
|
| AlphaFold |
Q8BUK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037182
AA Change: L378Q
PolyPhen 2
Score 0.547 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046788
Gene: ENSMUSG00000037234
AA Change: L378Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
12 |
710 |
N/A |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147613
AA Change: L59Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115008
Gene: ENSMUSG00000037234
AA Change: L59Q
| 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: ENSMUST00000210389
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210860
|
| Meta Mutation Damage Score |
0.8695 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
96% (77/80) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,784,571 (GRCm39) |
L348P |
probably damaging |
Het |
| Adamts15 |
C |
A |
9: 30,816,111 (GRCm39) |
C616F |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,158,099 (GRCm39) |
N116S |
probably damaging |
Het |
| Add2 |
C |
T |
6: 86,095,639 (GRCm39) |
S437L |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,388,069 (GRCm39) |
R495S |
probably benign |
Het |
| Agk |
C |
T |
6: 40,364,429 (GRCm39) |
T309I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,992,133 (GRCm39) |
Y81C |
probably damaging |
Het |
| Bak1 |
G |
A |
17: 27,240,242 (GRCm39) |
Q142* |
probably null |
Het |
| Bckdha |
A |
G |
7: 25,330,845 (GRCm39) |
V307A |
probably damaging |
Het |
| Camk2n2 |
C |
A |
16: 20,438,948 (GRCm39) |
G72V |
probably benign |
Het |
| Cd276 |
A |
T |
9: 58,434,845 (GRCm39) |
|
probably benign |
Het |
| Cd2ap |
G |
A |
17: 43,149,649 (GRCm39) |
Q122* |
probably null |
Het |
| Cdan1 |
T |
A |
2: 120,561,907 (GRCm39) |
|
probably benign |
Het |
| Cdh3 |
T |
C |
8: 107,263,547 (GRCm39) |
S156P |
probably benign |
Het |
| Chil4 |
T |
A |
3: 106,117,959 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
| Fcrlb |
T |
C |
1: 170,735,096 (GRCm39) |
T344A |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,861,829 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,912,835 (GRCm39) |
V3380F |
possibly damaging |
Het |
| Galnt9 |
A |
G |
5: 110,767,119 (GRCm39) |
D530G |
possibly damaging |
Het |
| Gja10 |
A |
T |
4: 32,601,135 (GRCm39) |
S416R |
probably benign |
Het |
| Gm10549 |
T |
A |
18: 33,603,841 (GRCm39) |
V108E |
unknown |
Het |
| Hpf1 |
T |
A |
8: 61,353,154 (GRCm39) |
D178E |
probably benign |
Het |
| Hsd17b7 |
T |
C |
1: 169,788,698 (GRCm39) |
N173S |
possibly damaging |
Het |
| Hsph1 |
A |
G |
5: 149,553,454 (GRCm39) |
F236L |
probably damaging |
Het |
| Kcnk12 |
G |
T |
17: 88,053,537 (GRCm39) |
T375K |
probably benign |
Het |
| Klra3 |
A |
T |
6: 130,304,033 (GRCm39) |
S220T |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,414,967 (GRCm39) |
L12Q |
probably damaging |
Het |
| Lnx1 |
A |
G |
5: 74,766,710 (GRCm39) |
L468P |
probably damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,803,970 (GRCm39) |
C827* |
probably null |
Het |
| Mical1 |
C |
T |
10: 41,354,210 (GRCm39) |
A53V |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,506,502 (GRCm39) |
H326L |
probably benign |
Het |
| Mpl |
A |
T |
4: 118,300,729 (GRCm39) |
M600K |
possibly damaging |
Het |
| Muc5b |
T |
A |
7: 141,419,230 (GRCm39) |
D4004E |
possibly damaging |
Het |
| Myo5b |
A |
T |
18: 74,710,680 (GRCm39) |
H98L |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,323,251 (GRCm39) |
T2110A |
probably damaging |
Het |
| Nedd4l |
C |
A |
18: 65,345,862 (GRCm39) |
R825S |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or4k35 |
A |
T |
2: 111,100,622 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or52e19 |
T |
A |
7: 102,959,432 (GRCm39) |
L168Q |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,940,361 (GRCm39) |
|
probably null |
Het |
| Parp2 |
T |
A |
14: 51,056,836 (GRCm39) |
L320H |
probably damaging |
Het |
| Poglut3 |
T |
C |
9: 53,307,150 (GRCm39) |
Y365H |
probably damaging |
Het |
| Pola2 |
C |
T |
19: 5,993,250 (GRCm39) |
|
probably null |
Het |
| Poln |
A |
T |
5: 34,264,494 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,131,680 (GRCm39) |
V123E |
probably damaging |
Het |
| Prom2 |
T |
C |
2: 127,374,802 (GRCm39) |
Y578C |
probably damaging |
Het |
| Prss23 |
T |
C |
7: 89,159,599 (GRCm39) |
T157A |
probably damaging |
Het |
| Sdk1 |
T |
A |
5: 141,598,950 (GRCm39) |
V205E |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,147,681 (GRCm39) |
K1771R |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,102,234 (GRCm39) |
S309T |
possibly damaging |
Het |
| Sirpa |
T |
A |
2: 129,457,432 (GRCm39) |
F169I |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,955,916 (GRCm39) |
N374S |
probably damaging |
Het |
| Sp110 |
C |
T |
1: 85,523,831 (GRCm39) |
|
probably null |
Het |
| Stard9 |
A |
G |
2: 120,509,934 (GRCm39) |
|
probably null |
Het |
| Synpr |
A |
G |
14: 13,563,082 (GRCm38) |
N105S |
probably damaging |
Het |
| Tbc1d16 |
T |
C |
11: 119,046,927 (GRCm39) |
Y440C |
probably damaging |
Het |
| Trabd |
A |
G |
15: 88,969,824 (GRCm39) |
I313V |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Trim50 |
A |
G |
5: 135,387,743 (GRCm39) |
E145G |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,862,624 (GRCm39) |
F105I |
probably damaging |
Het |
| Uba3 |
A |
G |
6: 97,176,230 (GRCm39) |
V92A |
possibly damaging |
Het |
| Uhmk1 |
T |
C |
1: 170,038,628 (GRCm39) |
K153R |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,194,810 (GRCm39) |
K8R |
possibly damaging |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,893 (GRCm39) |
M269L |
probably benign |
Het |
| Xpot |
G |
T |
10: 121,443,543 (GRCm39) |
|
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,624,949 (GRCm39) |
Y439C |
probably benign |
Het |
| Zfy1 |
T |
A |
Y: 725,620 (GRCm39) |
H715L |
possibly damaging |
Het |
| Zmym1 |
A |
C |
4: 126,941,872 (GRCm39) |
L839V |
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 |
|
|
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'- AGTCAGAAATGAGGTATATTCCAGC -3'
(R):5'- AGGATCTTCATATACCTGTAGACGAG -3'
Sequencing Primer
(F):5'- GCCTTAATTTCTGCACTCTGAGAAAC -3'
(R):5'- TCATATACCTGTAGACGAGATTGATG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation