Incidental Mutation 'R1514:Kif1c'
| ID |
168633 |
| 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 |
039561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1514 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
70591374-70622790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70596555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 257
(S257P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099614
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072187]
[ENSMUST00000094499]
[ENSMUST00000102554]
[ENSMUST00000137119]
[ENSMUST00000152618]
|
| AlphaFold |
O35071 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072187
AA Change: S257P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072048
Gene: ENSMUSG00000020821
AA Change: S257P
| 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: S257P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092075
Gene: ENSMUSG00000020821
AA Change: S257P
| 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: S257P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099614
Gene: ENSMUSG00000020821
AA Change: S257P
| 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: ENSMUST00000137119
AA Change: S257P
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000123242
Gene: ENSMUSG00000020821
AA Change: S257P
| 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: ENSMUST00000152618
AA Change: S257P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136258
Gene: ENSMUSG00000020821
AA Change: S257P
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
356 |
6.18e-175 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197857
|
| Meta Mutation Damage Score |
0.4183 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| 1700017N19Rik |
T |
A |
10: 100,448,729 (GRCm39) |
L147Q |
probably damaging |
Het |
| Aadacl4fm5 |
T |
C |
4: 144,504,329 (GRCm39) |
N274S |
probably damaging |
Het |
| Abcb1a |
A |
G |
5: 8,724,791 (GRCm39) |
T75A |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,337,597 (GRCm39) |
L495* |
probably null |
Het |
| Add1 |
T |
C |
5: 34,767,961 (GRCm39) |
I240T |
probably benign |
Het |
| Adgra2 |
C |
A |
8: 27,611,306 (GRCm39) |
S870* |
probably null |
Het |
| Amer3 |
G |
A |
1: 34,618,408 (GRCm39) |
|
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,792,670 (GRCm39) |
V486D |
probably benign |
Het |
| Bcorl1 |
T |
A |
X: 47,494,821 (GRCm39) |
D1697E |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,338 (GRCm39) |
D282G |
possibly damaging |
Het |
| Cep112 |
A |
G |
11: 108,362,880 (GRCm39) |
D200G |
probably damaging |
Het |
| Clec4a4 |
C |
T |
6: 122,967,401 (GRCm39) |
P26S |
probably benign |
Het |
| Crygf |
A |
C |
1: 65,967,197 (GRCm39) |
R102S |
possibly damaging |
Het |
| Cyp2b19 |
A |
T |
7: 26,466,585 (GRCm39) |
E404D |
probably benign |
Het |
| Dcdc2a |
A |
G |
13: 25,245,237 (GRCm39) |
I105V |
probably benign |
Het |
| Dus4l |
T |
C |
12: 31,690,938 (GRCm39) |
M238V |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,114,031 (GRCm39) |
M326I |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,661 (GRCm39) |
T1010A |
probably benign |
Het |
| Fam124b |
T |
C |
1: 80,178,148 (GRCm39) |
T284A |
possibly damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,680,420 (GRCm39) |
|
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,298 (GRCm39) |
|
probably null |
Het |
| Gm4952 |
T |
A |
19: 12,604,278 (GRCm39) |
M230K |
probably damaging |
Het |
| Gm5828 |
C |
A |
1: 16,839,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ifna16 |
T |
A |
4: 88,594,979 (GRCm39) |
T39S |
possibly damaging |
Het |
| Kcnc3 |
G |
A |
7: 44,245,027 (GRCm39) |
G439D |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,898,510 (GRCm39) |
K456E |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,801,414 (GRCm39) |
L142P |
probably damaging |
Het |
| Lratd1 |
C |
T |
12: 14,199,864 (GRCm39) |
V288M |
probably damaging |
Het |
| Med23 |
A |
G |
10: 24,768,565 (GRCm39) |
|
probably benign |
Het |
| Mks1 |
A |
T |
11: 87,751,937 (GRCm39) |
D369V |
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,576,734 (GRCm39) |
Y114N |
probably damaging |
Het |
| Npas2 |
A |
G |
1: 39,350,935 (GRCm39) |
D126G |
possibly damaging |
Het |
| Oga |
A |
G |
19: 45,765,370 (GRCm39) |
S146P |
probably damaging |
Het |
| Onecut2 |
T |
C |
18: 64,474,651 (GRCm39) |
F401L |
possibly damaging |
Het |
| Or10n1 |
T |
C |
9: 39,524,992 (GRCm39) |
I43T |
probably damaging |
Het |
| Or10v1 |
A |
G |
19: 11,873,978 (GRCm39) |
T198A |
probably benign |
Het |
| Or4f61 |
T |
C |
2: 111,922,381 (GRCm39) |
I222V |
probably benign |
Het |
| Parp11 |
T |
A |
6: 127,451,256 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,572 (GRCm39) |
H580Y |
probably damaging |
Het |
| Pde3b |
A |
G |
7: 114,130,001 (GRCm39) |
H852R |
probably damaging |
Het |
| Pira1 |
G |
A |
7: 3,742,639 (GRCm39) |
T23I |
possibly damaging |
Het |
| Pou2af1 |
A |
G |
9: 51,144,508 (GRCm39) |
T141A |
probably benign |
Het |
| Rgs22 |
A |
C |
15: 36,013,246 (GRCm39) |
V1190G |
probably benign |
Het |
| Rnf112 |
T |
C |
11: 61,341,236 (GRCm39) |
S450G |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,378 (GRCm39) |
I893N |
probably damaging |
Het |
| Rps3a1 |
A |
G |
3: 86,045,834 (GRCm39) |
V210A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,046,224 (GRCm39) |
A114T |
possibly damaging |
Het |
| Sardh |
A |
G |
2: 27,087,702 (GRCm39) |
V723A |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Secisbp2 |
A |
G |
13: 51,836,131 (GRCm39) |
S742G |
possibly damaging |
Het |
| Selenow |
G |
T |
7: 15,654,223 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,531,334 (GRCm39) |
V226A |
probably damaging |
Het |
| Sntb2 |
A |
G |
8: 107,718,164 (GRCm39) |
N291D |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,222,866 (GRCm39) |
T190A |
probably damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,817,829 (GRCm39) |
T68S |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,047,358 (GRCm39) |
L909H |
probably damaging |
Het |
| Sprr1b |
T |
C |
3: 92,344,414 (GRCm39) |
*154W |
probably null |
Het |
| Taar4 |
T |
A |
10: 23,836,510 (GRCm39) |
M40K |
possibly damaging |
Het |
| Ubr2 |
A |
T |
17: 47,311,749 (GRCm39) |
L34H |
probably damaging |
Het |
| Ubxn6 |
T |
C |
17: 56,376,003 (GRCm39) |
K386R |
probably benign |
Het |
| Vmn2r112 |
A |
T |
17: 22,821,825 (GRCm39) |
T168S |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,344,667 (GRCm39) |
R2303* |
probably null |
Het |
| Zbtb14 |
C |
A |
17: 69,695,497 (GRCm39) |
F398L |
probably damaging |
Het |
| Zfp13 |
G |
T |
17: 23,795,386 (GRCm39) |
T395K |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,435 (GRCm39) |
N471S |
probably benign |
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 |
|
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 |
|
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'- GGGGATGAGAAACCAAGCACCTTAC -3'
(R):5'- CAAATCTGCCAGGGCTGAGATCAC -3'
Sequencing Primer
(F):5'- ACCAAGCACCTTACTCTCCTG -3'
(R):5'- CAAGCGTAGTCAGGGACTTATTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation