Incidental Mutation 'R5861:Kif1c'
| ID |
453927 |
| 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 |
044073-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5861 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70594621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 94
(F94L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000073625]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000108541]
[ENSMUST00000108542]
[ENSMUST00000108543]
[ENSMUST00000137119]
[ENSMUST00000152618]
[ENSMUST00000126114]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: F94L
| 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 benign
Transcript: ENSMUST00000073625
|
| SMART Domains |
Protein: ENSMUSP00000073311
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094499
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: F94L
| 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: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: F94L
| 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 benign
Transcript: ENSMUST00000108541
|
| SMART Domains |
Protein: ENSMUSP00000104181
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108542
|
| SMART Domains |
Protein: ENSMUSP00000104182
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
12 |
187 |
7.7e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108543
|
| SMART Domains |
Protein: ENSMUSP00000104183
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
1 |
152 |
1.5e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137119
AA Change: F94L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: F94L
| 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 |
possibly damaging
Transcript: ENSMUST00000152618
AA Change: F94L
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000136258
Gene: ENSMUSG00000020821
AA Change: F94L
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197857
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126114
|
| SMART Domains |
Protein: ENSMUSP00000118761
Gene: ENSMUSG00000057054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:INCA1
|
12 |
187 |
8.4e-91 |
PFAM |
|
| Meta Mutation Damage Score |
0.4872 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
98% (81/83) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
T |
16: 20,218,644 (GRCm39) |
T246N |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,446,626 (GRCm39) |
D143G |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 78,037,393 (GRCm39) |
A612T |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,454,014 (GRCm39) |
F407I |
probably damaging |
Het |
| Asxl1 |
C |
A |
2: 153,241,310 (GRCm39) |
A620D |
probably damaging |
Het |
| C2cd3 |
A |
G |
7: 100,093,682 (GRCm39) |
|
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,267,359 (GRCm39) |
V92I |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,264,617 (GRCm39) |
F332S |
probably damaging |
Het |
| Crhbp |
G |
A |
13: 95,580,333 (GRCm39) |
A82V |
probably damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,434,040 (GRCm39) |
V90A |
possibly damaging |
Het |
| Dennd4c |
A |
T |
4: 86,709,589 (GRCm39) |
M397L |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,088 (GRCm39) |
D208G |
possibly damaging |
Het |
| Ecm1 |
G |
C |
3: 95,643,909 (GRCm39) |
L230V |
probably damaging |
Het |
| Ercc2 |
G |
C |
7: 19,128,066 (GRCm39) |
A696P |
possibly damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm13035 |
A |
G |
4: 146,009,859 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28042 |
T |
C |
2: 119,865,116 (GRCm39) |
V247A |
probably damaging |
Het |
| Gm28455 |
T |
A |
7: 39,148,003 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr150 |
A |
T |
13: 76,204,192 (GRCm39) |
V251D |
possibly damaging |
Het |
| Grip1 |
C |
T |
10: 119,765,875 (GRCm39) |
S69L |
probably damaging |
Het |
| Hs6st3 |
A |
G |
14: 119,376,265 (GRCm39) |
I147V |
possibly damaging |
Het |
| Il5 |
G |
A |
11: 53,614,743 (GRCm39) |
E102K |
probably benign |
Het |
| Lrrc63 |
T |
C |
14: 75,344,806 (GRCm39) |
E427G |
possibly damaging |
Het |
| Man1b1 |
A |
G |
2: 25,238,066 (GRCm39) |
T384A |
probably benign |
Het |
| Mapk15 |
C |
A |
15: 75,868,208 (GRCm39) |
|
probably benign |
Het |
| Mfsd10 |
T |
C |
5: 34,791,588 (GRCm39) |
|
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,315,129 (GRCm39) |
A285E |
probably damaging |
Het |
| Mroh4 |
T |
A |
15: 74,478,456 (GRCm39) |
|
probably benign |
Het |
| Myf5 |
A |
T |
10: 107,320,069 (GRCm39) |
C194S |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,226,347 (GRCm39) |
V431A |
possibly damaging |
Het |
| Nadsyn1 |
A |
C |
7: 143,364,964 (GRCm39) |
M247R |
possibly damaging |
Het |
| Nipsnap3b |
A |
G |
4: 53,021,177 (GRCm39) |
D166G |
probably damaging |
Het |
| Nqo2 |
A |
T |
13: 34,156,413 (GRCm39) |
L42F |
probably damaging |
Het |
| Nt5dc3 |
A |
T |
10: 86,651,738 (GRCm39) |
D180V |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,658,494 (GRCm39) |
|
probably null |
Het |
| Olfm3 |
T |
A |
3: 114,916,052 (GRCm39) |
L328Q |
probably damaging |
Het |
| Or4e1 |
T |
C |
14: 52,700,953 (GRCm39) |
Y171C |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,922 (GRCm39) |
N138K |
probably benign |
Het |
| Or7a37 |
A |
T |
10: 78,805,765 (GRCm39) |
Y94F |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,514,992 (GRCm39) |
N217S |
possibly damaging |
Het |
| Pcmtd2 |
C |
A |
2: 181,484,268 (GRCm39) |
T26K |
probably damaging |
Het |
| Pld5 |
T |
G |
1: 175,917,571 (GRCm39) |
N59H |
probably damaging |
Het |
| Ppm1d |
T |
C |
11: 85,202,674 (GRCm39) |
S126P |
possibly damaging |
Het |
| Ppp1r21 |
T |
C |
17: 88,889,937 (GRCm39) |
L727P |
probably damaging |
Het |
| Pramel20 |
G |
T |
4: 143,297,810 (GRCm39) |
V77L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,627,870 (GRCm39) |
R202H |
probably damaging |
Het |
| Rara |
T |
A |
11: 98,858,987 (GRCm39) |
C148* |
probably null |
Het |
| Rexo2 |
A |
T |
9: 48,386,481 (GRCm39) |
I83N |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,203 (GRCm39) |
R4501G |
probably damaging |
Het |
| Rps5 |
T |
A |
7: 12,659,501 (GRCm39) |
F97L |
probably damaging |
Het |
| Sigirr |
G |
A |
7: 140,671,292 (GRCm39) |
R397W |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,014 (GRCm39) |
Y318H |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,570 (GRCm39) |
T174A |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,632,116 (GRCm39) |
|
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,868,337 (GRCm39) |
E348G |
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,120,644 (GRCm39) |
T209A |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,492,424 (GRCm39) |
|
probably benign |
Het |
| Tmed6 |
G |
T |
8: 107,790,786 (GRCm39) |
T87K |
probably damaging |
Het |
| Trim5 |
G |
T |
7: 103,928,726 (GRCm39) |
H72N |
probably benign |
Het |
| Trim5 |
A |
C |
7: 103,928,728 (GRCm39) |
L71R |
probably benign |
Het |
| Uevld |
A |
T |
7: 46,576,104 (GRCm39) |
S461T |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,463,454 (GRCm39) |
N460I |
probably benign |
Het |
| Ylpm1 |
C |
T |
12: 85,087,660 (GRCm39) |
P1148L |
probably damaging |
Het |
| Zfp316 |
T |
C |
5: 143,249,095 (GRCm39) |
Y180C |
unknown |
Het |
| Zfp941 |
A |
G |
7: 140,392,052 (GRCm39) |
S436P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,697,966 (GRCm39) |
Q248* |
probably null |
Het |
| Zscan29 |
G |
T |
2: 120,994,518 (GRCm39) |
T489N |
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 |
|
R1708: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 |
|
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'- ACATCAGACCTTTGGGCAGTC -3'
(R):5'- GTTGCAGCCAAGCCTTATATC -3'
Sequencing Primer
(F):5'- AGACCTTTGGGCAGTCAGAGC -3'
(R):5'- TCTATCTCATTTCCAGTCACAAACAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation