Incidental Mutation 'R3086:Kifc2'
ID |
265650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kifc2
|
Ensembl Gene |
ENSMUSG00000004187 |
Gene Name |
kinesin family member C2 |
Synonyms |
|
MMRRC Submission |
040575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3086 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76551452 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 725
(F725L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004294
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000037551]
[ENSMUST00000037824]
[ENSMUST00000135388]
[ENSMUST00000230451]
[ENSMUST00000230964]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004294
AA Change: F725L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000004294 Gene: ENSMUSG00000004187 AA Change: F725L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
36 |
45 |
N/A |
INTRINSIC |
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
coiled coil region
|
195 |
235 |
N/A |
INTRINSIC |
coiled coil region
|
274 |
345 |
N/A |
INTRINSIC |
KISc
|
407 |
740 |
3.21e-141 |
SMART |
low complexity region
|
745 |
781 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037551
|
SMART Domains |
Protein: ENSMUSP00000037356 Gene: ENSMUSG00000033819
Domain | Start | End | E-Value | Type |
ANK
|
70 |
99 |
2.5e3 |
SMART |
ANK
|
103 |
132 |
3.41e-3 |
SMART |
ANK
|
136 |
165 |
2.66e-5 |
SMART |
ANK
|
231 |
260 |
2.58e-3 |
SMART |
ANK
|
264 |
293 |
4.03e-5 |
SMART |
low complexity region
|
323 |
346 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037824
|
SMART Domains |
Protein: ENSMUSP00000036591 Gene: ENSMUSG00000033837
Domain | Start | End | E-Value | Type |
FH
|
62 |
152 |
2.71e-34 |
SMART |
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
low complexity region
|
331 |
345 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135388
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230451
AA Change: F640L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230207
|
Meta Mutation Damage Score |
0.0715 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310039H08Rik |
T |
C |
17: 47,083,881 (GRCm39) |
L48P |
probably damaging |
Het |
Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
Bltp1 |
A |
G |
3: 37,065,852 (GRCm39) |
D3483G |
possibly damaging |
Het |
Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
Ces2b |
A |
T |
8: 105,559,401 (GRCm39) |
D89V |
possibly damaging |
Het |
Dhrs2 |
G |
T |
14: 55,477,301 (GRCm39) |
V179L |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,510,074 (GRCm39) |
N1585D |
possibly damaging |
Het |
Dock4 |
T |
C |
12: 40,781,862 (GRCm39) |
I689T |
probably benign |
Het |
Fgfr4 |
G |
T |
13: 55,315,205 (GRCm39) |
|
probably benign |
Het |
Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
Frzb |
T |
G |
2: 80,248,858 (GRCm39) |
I199L |
possibly damaging |
Het |
Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
Helq |
A |
G |
5: 100,921,858 (GRCm39) |
L782S |
probably benign |
Het |
Kif20b |
T |
C |
19: 34,907,115 (GRCm39) |
F128S |
probably damaging |
Het |
Lekr1 |
A |
G |
3: 65,634,581 (GRCm39) |
|
noncoding transcript |
Het |
Macf1 |
T |
A |
4: 123,328,901 (GRCm39) |
M2490L |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,948,396 (GRCm39) |
Y342C |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,437,812 (GRCm39) |
C2057R |
probably damaging |
Het |
Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,407,276 (GRCm39) |
G251S |
probably damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pcdha1 |
G |
C |
18: 37,064,001 (GRCm39) |
E222Q |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,098,777 (GRCm39) |
D1427V |
possibly damaging |
Het |
Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,443,093 (GRCm39) |
S33T |
probably benign |
Het |
Stk-ps2 |
A |
C |
1: 46,068,236 (GRCm39) |
|
noncoding transcript |
Het |
Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
Tiam2 |
A |
G |
17: 3,471,857 (GRCm39) |
K500E |
probably damaging |
Het |
Tmem131l |
G |
T |
3: 83,839,046 (GRCm39) |
R635S |
probably benign |
Het |
Tmem68 |
T |
C |
4: 3,569,594 (GRCm39) |
E32G |
possibly damaging |
Het |
Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
Zfp780b |
A |
G |
7: 27,663,055 (GRCm39) |
I500T |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Kifc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Kifc2
|
APN |
15 |
76,551,662 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01341:Kifc2
|
APN |
15 |
76,547,098 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02161:Kifc2
|
APN |
15 |
76,550,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Kifc2
|
APN |
15 |
76,547,179 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Kifc2
|
APN |
15 |
76,548,539 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0034:Kifc2
|
UTSW |
15 |
76,551,300 (GRCm39) |
missense |
probably benign |
0.18 |
R1818:Kifc2
|
UTSW |
15 |
76,550,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Kifc2
|
UTSW |
15 |
76,547,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Kifc2
|
UTSW |
15 |
76,545,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R2149:Kifc2
|
UTSW |
15 |
76,546,421 (GRCm39) |
missense |
probably benign |
0.00 |
R4704:Kifc2
|
UTSW |
15 |
76,547,177 (GRCm39) |
splice site |
probably null |
|
R4782:Kifc2
|
UTSW |
15 |
76,548,548 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4834:Kifc2
|
UTSW |
15 |
76,545,511 (GRCm39) |
start codon destroyed |
probably null |
0.48 |
R5085:Kifc2
|
UTSW |
15 |
76,545,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R5160:Kifc2
|
UTSW |
15 |
76,547,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Kifc2
|
UTSW |
15 |
76,550,481 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5543:Kifc2
|
UTSW |
15 |
76,551,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R5786:Kifc2
|
UTSW |
15 |
76,548,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5805:Kifc2
|
UTSW |
15 |
76,546,353 (GRCm39) |
missense |
probably benign |
0.00 |
R7290:Kifc2
|
UTSW |
15 |
76,544,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7311:Kifc2
|
UTSW |
15 |
76,547,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R7511:Kifc2
|
UTSW |
15 |
76,545,537 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7782:Kifc2
|
UTSW |
15 |
76,548,328 (GRCm39) |
missense |
probably benign |
0.00 |
R8816:Kifc2
|
UTSW |
15 |
76,548,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8834:Kifc2
|
UTSW |
15 |
76,551,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9010:Kifc2
|
UTSW |
15 |
76,550,885 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9574:Kifc2
|
UTSW |
15 |
76,546,397 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kifc2
|
UTSW |
15 |
76,545,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTTACGCGCCTGTTACAG -3'
(R):5'- TACATTCTCAAGCCCAGTACCAGG -3'
Sequencing Primer
(F):5'- TGTTACAGCCGGCGCTCTG -3'
(R):5'- CCCCTGGAGGTTCAAGAGTCAAG -3'
|
Posted On |
2015-02-05 |