Incidental Mutation 'R2278:Hook1'
| ID |
242892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hook1
|
| Ensembl Gene |
ENSMUSG00000028572 |
| Gene Name |
hook microtubule tethering protein 1 |
| Synonyms |
abnormal spermatozoon head shape, azh, A930033L17Rik |
| MMRRC Submission |
040277-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
95855477-95913650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95886957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 188
(Q188R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102698
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030306]
[ENSMUST00000107083]
|
| AlphaFold |
Q8BIL5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030306
AA Change: Q188R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000030306
Gene: ENSMUSG00000028572
AA Change: Q188R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
14 |
720 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107083
AA Change: Q188R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102698
Gene: ENSMUSG00000028572
AA Change: Q188R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HOOK
|
7 |
219 |
2e-107 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141448
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146947
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hook family of coiled-coil proteins, which bind to microtubules and organelles through their N- and C-terminal domains, respectively. The encoded protein localizes to discrete punctuate subcellular structures, and interacts with several members of the Rab GTPase family involved in endocytosis. It is thought to link endocytic membrane trafficking to the microtubule cytoskeleton. Several alternatively spliced transcript variants have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice have abnormal ladle shaped sperm with up to 40% lacking a flagella. Nonetheless, most males breed, although litter size is reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,201,400 (GRCm39) |
D251G |
probably damaging |
Het |
| Aqp3 |
T |
C |
4: 41,093,836 (GRCm39) |
D219G |
probably damaging |
Het |
| Arhgef15 |
C |
A |
11: 68,842,517 (GRCm39) |
W404C |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
| Bmp5 |
T |
A |
9: 75,683,830 (GRCm39) |
N152K |
possibly damaging |
Het |
| Bpifb2 |
C |
T |
2: 153,720,399 (GRCm39) |
Q53* |
probably null |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Clca3a1 |
A |
G |
3: 144,463,785 (GRCm39) |
V164A |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,749,234 (GRCm39) |
I1922T |
probably damaging |
Het |
| Gnpat |
A |
G |
8: 125,603,659 (GRCm39) |
D179G |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
| Ifi44 |
T |
C |
3: 151,438,025 (GRCm39) |
N421D |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,038,025 (GRCm39) |
T801I |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,804,342 (GRCm39) |
S107P |
possibly damaging |
Het |
| Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
| Kcnk18 |
T |
C |
19: 59,223,926 (GRCm39) |
I357T |
probably damaging |
Het |
| Kcnma1 |
T |
A |
14: 23,593,151 (GRCm39) |
R120* |
probably null |
Het |
| Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
| Lypla1 |
T |
G |
1: 4,911,321 (GRCm39) |
|
probably null |
Het |
| Mknk1 |
C |
T |
4: 115,732,690 (GRCm39) |
A306V |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,249,570 (GRCm39) |
S1245T |
possibly damaging |
Het |
| Npas3 |
T |
A |
12: 53,687,285 (GRCm39) |
V122E |
possibly damaging |
Het |
| Nrxn2 |
G |
C |
19: 6,531,883 (GRCm39) |
Q789H |
probably damaging |
Het |
| Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
| Or3a1 |
T |
C |
11: 74,225,991 (GRCm39) |
E22G |
probably benign |
Het |
| Or5p69 |
T |
C |
7: 107,967,288 (GRCm39) |
V197A |
probably benign |
Het |
| Or5w12 |
A |
G |
2: 87,502,289 (GRCm39) |
C141R |
possibly damaging |
Het |
| Otog |
G |
A |
7: 45,949,468 (GRCm39) |
V2369M |
probably damaging |
Het |
| Pfkp |
T |
C |
13: 6,669,245 (GRCm39) |
|
probably null |
Het |
| Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,095,919 (GRCm39) |
I474M |
possibly damaging |
Het |
| Psg22 |
C |
A |
7: 18,460,762 (GRCm39) |
Q464K |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,418,250 (GRCm39) |
S954N |
possibly damaging |
Het |
| Rps27l |
T |
A |
9: 66,854,208 (GRCm39) |
D34E |
probably benign |
Het |
| Sae1 |
A |
C |
7: 16,104,291 (GRCm39) |
L106R |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,913,257 (GRCm39) |
Q1553L |
probably benign |
Het |
| Slc11a2 |
A |
G |
15: 100,307,962 (GRCm39) |
|
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,203,159 (GRCm39) |
M556K |
probably benign |
Het |
| Slk |
T |
G |
19: 47,608,188 (GRCm39) |
I380M |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,119,396 (GRCm39) |
N236D |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Tiam2 |
G |
A |
17: 3,477,495 (GRCm39) |
V573M |
probably damaging |
Het |
| Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
| Tmem255b |
C |
T |
8: 13,501,081 (GRCm39) |
A106V |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,846,354 (GRCm39) |
M2141V |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,634,503 (GRCm39) |
Y143H |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,246,055 (GRCm39) |
C707* |
probably null |
Het |
| Zfp668 |
A |
T |
7: 127,465,998 (GRCm39) |
N395K |
probably benign |
Het |
| Znhit6 |
G |
T |
3: 145,281,991 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Hook1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02019:Hook1
|
APN |
4 |
95,910,434 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02229:Hook1
|
APN |
4 |
95,889,488 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03338:Hook1
|
APN |
4 |
95,886,929 (GRCm39) |
splice site |
probably benign |
|
|
grin
|
UTSW |
4 |
95,901,549 (GRCm39) |
frame shift |
probably null |
|
|
toothy
|
UTSW |
4 |
95,903,042 (GRCm39) |
splice site |
probably null |
|
|
PIT4453001:Hook1
|
UTSW |
4 |
95,903,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0558:Hook1
|
UTSW |
4 |
95,881,449 (GRCm39) |
splice site |
probably benign |
|
|
R0593:Hook1
|
UTSW |
4 |
95,887,023 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0699:Hook1
|
UTSW |
4 |
95,884,077 (GRCm39) |
splice site |
probably benign |
|
|
R1004:Hook1
|
UTSW |
4 |
95,910,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Hook1
|
UTSW |
4 |
95,901,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1465:Hook1
|
UTSW |
4 |
95,901,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2140:Hook1
|
UTSW |
4 |
95,901,549 (GRCm39) |
frame shift |
probably null |
|
|
R3784:Hook1
|
UTSW |
4 |
95,877,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4500:Hook1
|
UTSW |
4 |
95,881,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4798:Hook1
|
UTSW |
4 |
95,890,794 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5200:Hook1
|
UTSW |
4 |
95,881,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Hook1
|
UTSW |
4 |
95,890,765 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6532:Hook1
|
UTSW |
4 |
95,907,993 (GRCm39) |
splice site |
probably null |
|
|
R6629:Hook1
|
UTSW |
4 |
95,889,507 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7010:Hook1
|
UTSW |
4 |
95,903,048 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7534:Hook1
|
UTSW |
4 |
95,905,834 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8236:Hook1
|
UTSW |
4 |
95,903,042 (GRCm39) |
splice site |
probably null |
|
|
R8826:Hook1
|
UTSW |
4 |
95,880,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8985:Hook1
|
UTSW |
4 |
95,910,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9288:Hook1
|
UTSW |
4 |
95,901,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9445:Hook1
|
UTSW |
4 |
95,903,049 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9445:Hook1
|
UTSW |
4 |
95,901,499 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9463:Hook1
|
UTSW |
4 |
95,910,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9481:Hook1
|
UTSW |
4 |
95,901,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9548:Hook1
|
UTSW |
4 |
95,891,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9628:Hook1
|
UTSW |
4 |
95,901,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Hook1
|
UTSW |
4 |
95,904,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0027:Hook1
|
UTSW |
4 |
95,884,048 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAAGGCAACGCATGAAG -3'
(R):5'- TCTATTAGCAGGTCACGCATTACTTAC -3'
Sequencing Primer
(F):5'- GCAACGCATGAAGACTCATTAG -3'
(R):5'- GGTCACGCATTACTTACTACAAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation