Incidental Mutation 'R5919:Kif17'
| ID |
462556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif17
|
| Ensembl Gene |
ENSMUSG00000028758 |
| Gene Name |
kinesin family member 17 |
| Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
| MMRRC Submission |
044116-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5919 (G1)
|
| Quality Score |
153 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137997202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 42
(I42F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101444
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
| AlphaFold |
Q99PW8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030539
AA Change: I142F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
AA Change: I142F
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
343 |
4.57e-178 |
SMART |
|
coiled coil region
|
400 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
806 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105818
AA Change: I42F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
AA Change: I42F
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
1 |
151 |
1.46e-13 |
SMART |
|
coiled coil region
|
208 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
coiled coil region
|
615 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000105820
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105821
AA Change: I142F
|
| SMART Domains |
Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758
AA Change: I142F
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
343 |
4.57e-178 |
SMART |
|
low complexity region
|
486 |
499 |
N/A |
INTRINSIC |
|
coiled coil region
|
569 |
615 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9391 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (68/68) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired anterograde neuron transport, reduced NMDA-mediated synaptic currents, impaired synaptic plasticity, impaired long term object recognition memory, impaired spatial learning, and impaired contextual conditioning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
C |
1: 151,791,249 (GRCm39) |
D104G |
probably damaging |
Het |
| 6030458C11Rik |
A |
T |
15: 12,823,754 (GRCm39) |
H40Q |
probably damaging |
Het |
| Abcc3 |
A |
G |
11: 94,248,132 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Adgrl1 |
G |
T |
8: 84,659,239 (GRCm39) |
D648Y |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,417 (GRCm39) |
D547E |
probably benign |
Het |
| Aebp1 |
A |
T |
11: 5,821,421 (GRCm39) |
M607L |
probably benign |
Het |
| Angptl1 |
T |
C |
1: 156,686,116 (GRCm39) |
Y401H |
probably damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,962 (GRCm39) |
T163A |
probably benign |
Het |
| Bltp2 |
A |
T |
11: 78,180,176 (GRCm39) |
N2152I |
probably damaging |
Het |
| Camk2b |
A |
G |
11: 5,929,718 (GRCm39) |
S331P |
probably damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,231,692 (GRCm39) |
|
probably null |
Het |
| Ccdc168 |
T |
C |
1: 44,096,146 (GRCm39) |
N1651D |
probably benign |
Het |
| Ccdc38 |
A |
T |
10: 93,414,700 (GRCm39) |
I370F |
possibly damaging |
Het |
| Clstn1 |
A |
T |
4: 149,719,703 (GRCm39) |
H416L |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,509,580 (GRCm39) |
R3030H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,147,294 (GRCm39) |
V540E |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,925,991 (GRCm39) |
R710H |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,983 (GRCm39) |
I851V |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,344,146 (GRCm39) |
V642A |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,486 (GRCm39) |
L1139P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,479,910 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,822,953 (GRCm39) |
N6229D |
possibly damaging |
Het |
| Garin5b |
T |
C |
7: 4,773,385 (GRCm39) |
E144G |
possibly damaging |
Het |
| Gas2l3 |
G |
A |
10: 89,252,917 (GRCm39) |
R243W |
probably damaging |
Het |
| Hectd1 |
G |
A |
12: 51,815,855 (GRCm39) |
R1406W |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,976,249 (GRCm39) |
H180R |
probably damaging |
Het |
| Ift172 |
T |
A |
5: 31,418,006 (GRCm39) |
Q1261L |
possibly damaging |
Het |
| Il17rd |
T |
C |
14: 26,818,001 (GRCm39) |
V230A |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,477 (GRCm39) |
K799E |
possibly damaging |
Het |
| Lrp4 |
A |
T |
2: 91,303,552 (GRCm39) |
I84F |
probably damaging |
Het |
| Mplkipl1 |
T |
C |
19: 61,163,907 (GRCm39) |
Y176C |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,551,509 (GRCm39) |
|
probably null |
Het |
| Ms4a14 |
C |
A |
19: 11,291,661 (GRCm39) |
V13F |
possibly damaging |
Het |
| Muc2 |
T |
A |
7: 141,281,171 (GRCm39) |
V445D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,227,837 (GRCm39) |
M1317K |
possibly damaging |
Het |
| Myof |
T |
A |
19: 38,012,818 (GRCm39) |
D39V |
possibly damaging |
Het |
| Ndufaf1 |
A |
C |
2: 119,490,709 (GRCm39) |
V117G |
possibly damaging |
Het |
| Ndufs1 |
C |
G |
1: 63,182,991 (GRCm39) |
*728S |
probably null |
Het |
| Nup188 |
A |
T |
2: 30,229,906 (GRCm39) |
N1375Y |
probably damaging |
Het |
| Oasl1 |
T |
A |
5: 115,066,329 (GRCm39) |
I149N |
probably damaging |
Het |
| Or9i16 |
A |
G |
19: 13,865,209 (GRCm39) |
Y122H |
probably damaging |
Het |
| Pelo |
C |
A |
13: 115,225,845 (GRCm39) |
C204F |
possibly damaging |
Het |
| Phf11d |
A |
C |
14: 59,593,712 (GRCm39) |
|
probably benign |
Het |
| Rars2 |
T |
C |
4: 34,657,232 (GRCm39) |
L526P |
probably damaging |
Het |
| Rrp1 |
A |
G |
10: 78,241,422 (GRCm39) |
L177P |
probably damaging |
Het |
| S100a9 |
A |
G |
3: 90,602,495 (GRCm39) |
L33P |
probably damaging |
Het |
| Slc4a7 |
A |
G |
14: 14,791,092 (GRCm38) |
D1045G |
probably benign |
Het |
| Slc9a3 |
C |
T |
13: 74,306,859 (GRCm39) |
T328I |
probably damaging |
Het |
| Spata6 |
A |
G |
4: 111,636,405 (GRCm39) |
D232G |
probably damaging |
Het |
| Taar6 |
A |
T |
10: 23,861,168 (GRCm39) |
I126N |
probably damaging |
Het |
| Tmeff2 |
C |
A |
1: 51,171,311 (GRCm39) |
C182* |
probably null |
Het |
| Tmem178 |
T |
A |
17: 81,297,187 (GRCm39) |
C190S |
probably damaging |
Het |
| Trerf1 |
T |
G |
17: 47,634,208 (GRCm39) |
|
noncoding transcript |
Het |
| Trgv6 |
A |
G |
13: 19,374,782 (GRCm39) |
Y16C |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,423 (GRCm39) |
I1046V |
possibly damaging |
Het |
| Vmn1r221 |
A |
T |
13: 23,401,466 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r2 |
T |
C |
3: 64,044,723 (GRCm39) |
N141S |
probably benign |
Het |
| Zfp64 |
T |
A |
2: 168,768,419 (GRCm39) |
N398Y |
probably benign |
Het |
| Zfp787 |
T |
G |
7: 6,135,834 (GRCm39) |
Q139P |
probably damaging |
Het |
|
| Other mutations in Kif17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Kif17
|
APN |
4 |
137,990,019 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL00973:Kif17
|
APN |
4 |
138,002,368 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01527:Kif17
|
APN |
4 |
137,996,397 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01559:Kif17
|
APN |
4 |
138,021,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01736:Kif17
|
APN |
4 |
138,013,876 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02671:Kif17
|
APN |
4 |
138,015,372 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02976:Kif17
|
APN |
4 |
137,996,374 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03051:Kif17
|
APN |
4 |
138,016,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03285:Kif17
|
APN |
4 |
137,996,301 (GRCm39) |
missense |
probably damaging |
0.97 |
|
easy_company
|
UTSW |
4 |
138,015,643 (GRCm39) |
nonsense |
probably null |
|
|
fiddle
|
UTSW |
4 |
138,013,791 (GRCm39) |
missense |
probably benign |
0.18 |
|
fidget
|
UTSW |
4 |
137,997,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A5278:Kif17
|
UTSW |
4 |
138,015,261 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0012:Kif17
|
UTSW |
4 |
138,021,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0012:Kif17
|
UTSW |
4 |
138,021,059 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0133:Kif17
|
UTSW |
4 |
138,005,556 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0627:Kif17
|
UTSW |
4 |
138,015,798 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0670:Kif17
|
UTSW |
4 |
137,989,810 (GRCm39) |
unclassified |
probably benign |
|
|
R0894:Kif17
|
UTSW |
4 |
138,025,542 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1367:Kif17
|
UTSW |
4 |
138,005,305 (GRCm39) |
nonsense |
probably null |
|
|
R1648:Kif17
|
UTSW |
4 |
137,997,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Kif17
|
UTSW |
4 |
138,028,569 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1700:Kif17
|
UTSW |
4 |
137,990,009 (GRCm39) |
nonsense |
probably null |
|
|
R1855:Kif17
|
UTSW |
4 |
138,015,582 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2137:Kif17
|
UTSW |
4 |
137,989,978 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2170:Kif17
|
UTSW |
4 |
138,015,682 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3008:Kif17
|
UTSW |
4 |
138,005,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3855:Kif17
|
UTSW |
4 |
138,018,821 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4591:Kif17
|
UTSW |
4 |
138,005,110 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4789:Kif17
|
UTSW |
4 |
138,008,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Kif17
|
UTSW |
4 |
138,025,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Kif17
|
UTSW |
4 |
138,018,744 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5901:Kif17
|
UTSW |
4 |
138,025,643 (GRCm39) |
splice site |
probably null |
|
|
R6119:Kif17
|
UTSW |
4 |
138,015,643 (GRCm39) |
nonsense |
probably null |
|
|
R6312:Kif17
|
UTSW |
4 |
138,015,504 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6693:Kif17
|
UTSW |
4 |
138,013,791 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6774:Kif17
|
UTSW |
4 |
138,002,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Kif17
|
UTSW |
4 |
138,005,710 (GRCm39) |
splice site |
probably null |
|
|
R6863:Kif17
|
UTSW |
4 |
137,997,195 (GRCm39) |
nonsense |
probably null |
|
|
R7205:Kif17
|
UTSW |
4 |
138,021,077 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7307:Kif17
|
UTSW |
4 |
137,989,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7336:Kif17
|
UTSW |
4 |
138,025,617 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7594:Kif17
|
UTSW |
4 |
138,005,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Kif17
|
UTSW |
4 |
138,015,507 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8019:Kif17
|
UTSW |
4 |
138,023,536 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8306:Kif17
|
UTSW |
4 |
138,005,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9461:Kif17
|
UTSW |
4 |
138,005,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kif17
|
UTSW |
4 |
138,015,241 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGTAACATGGCTTGGAG -3'
(R):5'- TACATGATCCCAGCACTAGGG -3'
Sequencing Primer
(F):5'- GGAAGGTTTACCAGGTCAGAC -3'
(R):5'- TGATCCCAGCACTAGGGAAACTG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation