Incidental Mutation 'R6863:Kif17'
ID |
535738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif17
|
Ensembl Gene |
ENSMUSG00000028758 |
Gene Name |
kinesin family member 17 |
Synonyms |
5930435E01Rik, Kif17b, N-4 kinesin |
MMRRC Submission |
044963-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.214)
|
Stock # |
R6863 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
137989562-138029284 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 137997195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 139
(Y139*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105821]
|
AlphaFold |
Q99PW8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030539
AA Change: Y139*
|
SMART Domains |
Protein: ENSMUSP00000030539 Gene: ENSMUSG00000028758 AA Change: Y139*
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 null
Transcript: ENSMUST00000105818
AA Change: Y39*
|
SMART Domains |
Protein: ENSMUSP00000101444 Gene: ENSMUSG00000028758 AA Change: Y39*
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 |
probably null
Transcript: ENSMUST00000105821
AA Change: Y139*
|
SMART Domains |
Protein: ENSMUSP00000101447 Gene: ENSMUSG00000028758 AA Change: Y139*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (56/56) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
A |
T |
15: 94,277,627 (GRCm39) |
Y278* |
probably null |
Het |
Agap3 |
A |
T |
5: 24,657,461 (GRCm39) |
Y86F |
possibly damaging |
Het |
Agap3 |
C |
A |
5: 24,657,462 (GRCm39) |
Y86* |
probably null |
Het |
Ahnak |
T |
C |
19: 8,989,729 (GRCm39) |
|
probably benign |
Het |
Arhgap45 |
G |
T |
10: 79,853,616 (GRCm39) |
E43D |
probably benign |
Het |
Cacna1d |
A |
C |
14: 29,797,809 (GRCm39) |
I1426S |
probably damaging |
Het |
Calhm5 |
C |
A |
10: 33,968,451 (GRCm39) |
A201S |
probably benign |
Het |
Cdkn2a |
T |
C |
4: 89,193,003 (GRCm39) |
E159G |
probably benign |
Het |
Cep85l |
C |
A |
10: 53,225,214 (GRCm39) |
W125L |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,043,647 (GRCm39) |
V431M |
possibly damaging |
Het |
Csmd1 |
G |
A |
8: 17,584,929 (GRCm39) |
A21V |
possibly damaging |
Het |
Ctsc |
T |
A |
7: 87,951,486 (GRCm39) |
Y243* |
probably null |
Het |
Ctu1 |
A |
G |
7: 43,326,046 (GRCm39) |
E235G |
probably damaging |
Het |
Degs2 |
T |
C |
12: 108,668,457 (GRCm39) |
Y14C |
probably damaging |
Het |
Dnaaf5 |
T |
C |
5: 139,137,351 (GRCm39) |
F235L |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,942,290 (GRCm39) |
S5P |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,618,614 (GRCm39) |
I3288T |
probably benign |
Het |
Ebpl |
A |
T |
14: 61,597,751 (GRCm39) |
L30Q |
probably damaging |
Het |
Eif1ad15 |
T |
C |
12: 88,287,968 (GRCm39) |
Y95C |
probably damaging |
Het |
Etaa1 |
T |
A |
11: 17,903,794 (GRCm39) |
M1L |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,811,120 (GRCm39) |
T1068A |
probably benign |
Het |
Eya1 |
C |
A |
1: 14,341,199 (GRCm39) |
|
probably null |
Het |
Fat1 |
G |
T |
8: 45,497,501 (GRCm39) |
V4329L |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,691,165 (GRCm39) |
Q127L |
probably benign |
Het |
Gm1110 |
T |
G |
9: 26,792,360 (GRCm39) |
Y590S |
probably damaging |
Het |
Gm14410 |
G |
A |
2: 176,885,860 (GRCm39) |
Q135* |
probably null |
Het |
Greb1 |
A |
T |
12: 16,734,421 (GRCm39) |
V1523D |
probably damaging |
Het |
Hmg20b |
T |
C |
10: 81,182,854 (GRCm39) |
N210S |
probably damaging |
Het |
Kcnh7 |
T |
C |
2: 62,618,029 (GRCm39) |
K487E |
possibly damaging |
Het |
Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
Klhl2 |
A |
T |
8: 65,275,743 (GRCm39) |
N53K |
probably benign |
Het |
Lrit2 |
G |
T |
14: 36,793,901 (GRCm39) |
G322C |
probably damaging |
Het |
Macir |
T |
C |
1: 97,574,030 (GRCm39) |
T12A |
probably benign |
Het |
Matcap1 |
T |
C |
8: 106,012,435 (GRCm39) |
D4G |
probably damaging |
Het |
Mgam |
A |
T |
6: 40,705,943 (GRCm39) |
Q4L |
probably benign |
Het |
Mst1r |
A |
G |
9: 107,797,225 (GRCm39) |
T1365A |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Mydgf |
C |
A |
17: 56,490,789 (GRCm39) |
V35L |
probably damaging |
Het |
Nmt2 |
T |
A |
2: 3,306,341 (GRCm39) |
|
probably null |
Het |
Or10s1 |
A |
G |
9: 39,986,110 (GRCm39) |
Y173C |
probably damaging |
Het |
Or52ad1 |
C |
T |
7: 102,996,123 (GRCm39) |
C4Y |
possibly damaging |
Het |
Pik3r2 |
T |
C |
8: 71,223,058 (GRCm39) |
Y454C |
probably damaging |
Het |
Rad54l |
T |
C |
4: 115,956,866 (GRCm39) |
Y485C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,437,206 (GRCm39) |
S50T |
probably benign |
Het |
Scaf11 |
T |
C |
15: 96,317,300 (GRCm39) |
S755G |
probably damaging |
Het |
Shb |
A |
G |
4: 45,458,163 (GRCm39) |
W135R |
probably damaging |
Het |
Slc1a4 |
T |
C |
11: 20,264,001 (GRCm39) |
K239E |
probably damaging |
Het |
Slc44a4 |
T |
A |
17: 35,142,798 (GRCm39) |
V248D |
probably benign |
Het |
Smpdl3a |
T |
A |
10: 57,684,107 (GRCm39) |
Y288* |
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,096,777 (GRCm39) |
M267V |
possibly damaging |
Het |
Taok2 |
C |
T |
7: 126,471,109 (GRCm39) |
R661Q |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,397,030 (GRCm39) |
I819F |
probably damaging |
Het |
Themis2 |
A |
T |
4: 132,516,907 (GRCm39) |
W198R |
probably damaging |
Het |
Timd4 |
C |
G |
11: 46,706,270 (GRCm39) |
S24* |
probably null |
Het |
Tnrc18 |
T |
C |
5: 142,800,952 (GRCm39) |
D2G |
probably damaging |
Het |
Wdr35 |
A |
G |
12: 9,040,047 (GRCm39) |
D384G |
probably damaging |
Het |
Zfp560 |
C |
A |
9: 20,259,795 (GRCm39) |
V356F |
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 |
|
R5919:Kif17
|
UTSW |
4 |
137,997,202 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- CAGATGGCTGTAACATGGCTTG -3'
(R):5'- GATCCCAGCACTAGGGAAACTG -3'
Sequencing Primer
(F):5'- CCAGAGAGGAAGGTTTACCAGGTC -3'
(R):5'- TGAGTCCACAGGATGCTGAGTC -3'
|
Posted On |
2018-10-18 |