Incidental Mutation 'R1708:Kif1c'
ID |
190244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif1c
|
Ensembl Gene |
ENSMUSG00000020821 |
Gene Name |
kinesin family member 1C |
Synonyms |
N-3 kinsin, B430105J22Rik, D11Bwg1349e, Orch3 |
MMRRC Submission |
039741-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1708 (G1)
|
Quality Score |
162 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 70619223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 953
(L953F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
|
AlphaFold |
O35071 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: L953F
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000072048 Gene: ENSMUSG00000020821 AA Change: L953F
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
673 |
N/A |
INTRINSIC |
coiled coil region
|
842 |
883 |
N/A |
INTRINSIC |
low complexity region
|
955 |
975 |
N/A |
INTRINSIC |
low complexity region
|
1009 |
1055 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1100 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094499
AA Change: L941F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092075 Gene: ENSMUSG00000020821 AA Change: L941F
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102554
AA Change: L941F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099614 Gene: ENSMUSG00000020821 AA Change: L941F
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137119
AA Change: L941F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123242 Gene: ENSMUSG00000020821 AA Change: L941F
Domain | Start | End | E-Value | Type |
KISc
|
3 |
356 |
6.18e-175 |
SMART |
low complexity region
|
402 |
418 |
N/A |
INTRINSIC |
FHA
|
522 |
575 |
1.45e-2 |
SMART |
low complexity region
|
607 |
622 |
N/A |
INTRINSIC |
coiled coil region
|
634 |
671 |
N/A |
INTRINSIC |
coiled coil region
|
830 |
871 |
N/A |
INTRINSIC |
low complexity region
|
943 |
963 |
N/A |
INTRINSIC |
low complexity region
|
997 |
1043 |
N/A |
INTRINSIC |
low complexity region
|
1060 |
1088 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0682 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014] PHENOTYPE: Mice homozygous for a reporter allele are viable, fertile and overtly normal and display normal motor-dependent retrograde Golgi apparatus-to-endoplasmic reticulum transport. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,941,732 (GRCm39) |
I4F |
probably benign |
Het |
Aadacl4fm1 |
T |
C |
4: 144,246,511 (GRCm39) |
V19A |
probably benign |
Het |
Abca8a |
A |
T |
11: 109,943,928 (GRCm39) |
S1114T |
probably damaging |
Het |
Adgre1 |
A |
T |
17: 57,708,974 (GRCm39) |
Y55F |
possibly damaging |
Het |
Alb |
A |
C |
5: 90,611,910 (GRCm39) |
D113A |
possibly damaging |
Het |
Ankrd33b |
C |
T |
15: 31,305,155 (GRCm39) |
R203Q |
probably damaging |
Het |
Aqp6 |
T |
C |
15: 99,500,543 (GRCm39) |
V156A |
possibly damaging |
Het |
AU018091 |
T |
C |
7: 3,206,184 (GRCm39) |
S616G |
probably damaging |
Het |
Cfd |
T |
A |
10: 79,727,441 (GRCm39) |
D68E |
probably benign |
Het |
Cntn2 |
C |
T |
1: 132,446,936 (GRCm39) |
A725T |
probably damaging |
Het |
Copg2 |
A |
C |
6: 30,801,312 (GRCm39) |
D373E |
probably damaging |
Het |
Cyp2d11 |
T |
C |
15: 82,274,633 (GRCm39) |
T315A |
probably benign |
Het |
Cyp2j13 |
G |
T |
4: 95,950,304 (GRCm39) |
N232K |
probably damaging |
Het |
Cyp2j8 |
A |
T |
4: 96,387,832 (GRCm39) |
F210I |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,805,980 (GRCm39) |
T3373M |
probably benign |
Het |
Eif2ak3 |
A |
G |
6: 70,864,790 (GRCm39) |
K549E |
probably damaging |
Het |
Epha3 |
C |
T |
16: 63,403,870 (GRCm39) |
V744I |
probably damaging |
Het |
Erich6 |
T |
C |
3: 58,523,868 (GRCm39) |
S669G |
probably benign |
Het |
Fam90a1a |
A |
T |
8: 22,451,464 (GRCm39) |
K108N |
probably damaging |
Het |
Fat1 |
G |
A |
8: 45,477,829 (GRCm39) |
V2292M |
probably damaging |
Het |
Fibp |
T |
C |
19: 5,513,822 (GRCm39) |
C255R |
probably null |
Het |
Fzd1 |
A |
G |
5: 4,805,791 (GRCm39) |
V597A |
possibly damaging |
Het |
Gm12790 |
G |
A |
4: 101,825,174 (GRCm39) |
A80V |
possibly damaging |
Het |
Gm2381 |
A |
T |
7: 42,469,649 (GRCm39) |
N158K |
probably benign |
Het |
Impg2 |
T |
A |
16: 56,085,441 (GRCm39) |
D940E |
probably benign |
Het |
Ints1 |
A |
T |
5: 139,748,594 (GRCm39) |
V1071E |
probably damaging |
Het |
Kat5 |
A |
T |
19: 5,659,507 (GRCm39) |
Y44* |
probably null |
Het |
Klra6 |
A |
C |
6: 129,999,677 (GRCm39) |
L97* |
probably null |
Het |
Ly6c2 |
C |
T |
15: 74,983,469 (GRCm39) |
|
probably null |
Het |
Mon1a |
G |
A |
9: 107,775,917 (GRCm39) |
E12K |
probably benign |
Het |
Myo3b |
A |
T |
2: 70,075,729 (GRCm39) |
K578* |
probably null |
Het |
Myrip |
A |
T |
9: 120,293,840 (GRCm39) |
R778S |
possibly damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,225,968 (GRCm39) |
|
noncoding transcript |
Het |
Or2w4 |
C |
T |
13: 21,795,240 (GRCm39) |
A300T |
probably damaging |
Het |
Or3a4 |
G |
A |
11: 73,944,814 (GRCm39) |
T257I |
probably damaging |
Het |
Or4c35 |
A |
G |
2: 89,808,382 (GRCm39) |
R87G |
probably benign |
Het |
Or52n4b |
T |
A |
7: 108,143,781 (GRCm39) |
F14L |
probably benign |
Het |
Or5b121 |
T |
C |
19: 13,507,277 (GRCm39) |
V80A |
probably damaging |
Het |
Panx3 |
T |
C |
9: 37,572,687 (GRCm39) |
I288V |
probably benign |
Het |
Pcdh9 |
G |
A |
14: 94,125,741 (GRCm39) |
P143L |
probably damaging |
Het |
Pigc |
T |
A |
1: 161,798,293 (GRCm39) |
S92T |
probably benign |
Het |
Pou3f2 |
C |
A |
4: 22,487,255 (GRCm39) |
V293L |
possibly damaging |
Het |
Rbm15 |
A |
G |
3: 107,238,536 (GRCm39) |
S621P |
probably damaging |
Het |
Rnf220 |
T |
C |
4: 117,347,083 (GRCm39) |
S110G |
probably benign |
Het |
Rnf38 |
A |
T |
4: 44,143,593 (GRCm39) |
V115D |
probably damaging |
Het |
Rps6ka2 |
A |
G |
17: 7,544,929 (GRCm39) |
H347R |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,602,328 (GRCm39) |
|
probably null |
Het |
Sema4f |
G |
T |
6: 82,894,975 (GRCm39) |
P407T |
probably damaging |
Het |
Setbp1 |
T |
C |
18: 78,901,682 (GRCm39) |
T662A |
probably damaging |
Het |
Slc27a1 |
C |
A |
8: 72,037,274 (GRCm39) |
|
probably null |
Het |
Slc41a2 |
T |
A |
10: 83,069,596 (GRCm39) |
I519F |
probably damaging |
Het |
Sntg2 |
C |
T |
12: 30,423,179 (GRCm39) |
S17N |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,348 (GRCm39) |
L1184P |
probably damaging |
Het |
Taf5l |
G |
A |
8: 124,736,509 (GRCm39) |
Q21* |
probably null |
Het |
Tbc1d32 |
A |
C |
10: 56,027,865 (GRCm39) |
S746A |
possibly damaging |
Het |
Tdrd1 |
T |
G |
19: 56,830,721 (GRCm39) |
S251R |
probably benign |
Het |
Thap7 |
C |
T |
16: 17,346,814 (GRCm39) |
R121Q |
probably benign |
Het |
Tmem50a |
A |
G |
4: 134,625,779 (GRCm39) |
V146A |
probably benign |
Het |
Tmprss15 |
T |
C |
16: 78,850,958 (GRCm39) |
I327V |
possibly damaging |
Het |
Tmt1a3 |
A |
G |
15: 100,233,150 (GRCm39) |
N114D |
probably damaging |
Het |
Ttc23 |
T |
C |
7: 67,316,924 (GRCm39) |
I65T |
probably damaging |
Het |
Vmn1r22 |
G |
T |
6: 57,877,481 (GRCm39) |
H165Q |
possibly damaging |
Het |
Vopp1 |
C |
T |
6: 57,739,497 (GRCm39) |
R17H |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,639,128 (GRCm39) |
K337E |
probably benign |
Het |
Wrap53 |
G |
A |
11: 69,454,761 (GRCm39) |
R203* |
probably null |
Het |
Zfp944 |
T |
C |
17: 22,558,026 (GRCm39) |
Y407C |
probably damaging |
Het |
|
Other mutations in Kif1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00775:Kif1c
|
APN |
11 |
70,614,960 (GRCm39) |
splice site |
probably null |
|
IGL00817:Kif1c
|
APN |
11 |
70,596,079 (GRCm39) |
missense |
probably benign |
0.25 |
IGL00849:Kif1c
|
APN |
11 |
70,596,953 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01988:Kif1c
|
APN |
11 |
70,595,762 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02683:Kif1c
|
APN |
11 |
70,617,278 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL03024:Kif1c
|
APN |
11 |
70,596,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R0570:Kif1c
|
UTSW |
11 |
70,595,291 (GRCm39) |
missense |
probably damaging |
0.96 |
R0647:Kif1c
|
UTSW |
11 |
70,616,967 (GRCm39) |
missense |
probably damaging |
1.00 |
R0710:Kif1c
|
UTSW |
11 |
70,617,323 (GRCm39) |
missense |
probably benign |
|
R1112:Kif1c
|
UTSW |
11 |
70,615,641 (GRCm39) |
splice site |
probably null |
|
R1199:Kif1c
|
UTSW |
11 |
70,599,427 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1514:Kif1c
|
UTSW |
11 |
70,596,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R1660:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1661:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1666:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1669:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1707:Kif1c
|
UTSW |
11 |
70,619,223 (GRCm39) |
missense |
probably damaging |
0.99 |
R1835:Kif1c
|
UTSW |
11 |
70,599,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R1861:Kif1c
|
UTSW |
11 |
70,594,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2870:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2871:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2872:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2872:Kif1c
|
UTSW |
11 |
70,614,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R2927:Kif1c
|
UTSW |
11 |
70,617,140 (GRCm39) |
missense |
probably benign |
|
R3720:Kif1c
|
UTSW |
11 |
70,594,597 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4809:Kif1c
|
UTSW |
11 |
70,617,183 (GRCm39) |
missense |
probably benign |
0.10 |
R4914:Kif1c
|
UTSW |
11 |
70,599,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R5642:Kif1c
|
UTSW |
11 |
70,599,273 (GRCm39) |
missense |
probably benign |
0.14 |
R5788:Kif1c
|
UTSW |
11 |
70,599,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5861:Kif1c
|
UTSW |
11 |
70,594,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Kif1c
|
UTSW |
11 |
70,597,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R7456:Kif1c
|
UTSW |
11 |
70,619,424 (GRCm39) |
missense |
probably benign |
0.00 |
R7857:Kif1c
|
UTSW |
11 |
70,619,103 (GRCm39) |
missense |
probably benign |
|
R8841:Kif1c
|
UTSW |
11 |
70,615,659 (GRCm39) |
missense |
probably benign |
0.02 |
R9004:Kif1c
|
UTSW |
11 |
70,615,958 (GRCm39) |
missense |
probably benign |
0.30 |
R9117:Kif1c
|
UTSW |
11 |
70,595,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R9714:Kif1c
|
UTSW |
11 |
70,615,660 (GRCm39) |
missense |
probably benign |
0.29 |
Z1177:Kif1c
|
UTSW |
11 |
70,593,719 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1186:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1187:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1188:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1189:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1190:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1191:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
Z1192:Kif1c
|
UTSW |
11 |
70,614,940 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- AATGACGAGTCTGGTTTGGTCACC -3'
(R):5'- AGTGGGCACCTTCCTCCTAACAAG -3'
Sequencing Primer
(F):5'- GCAGTAGAGGAGACAGTGCC -3'
(R):5'- ctgggctgggGCTGTTG -3'
|
Posted On |
2014-05-14 |