Incidental Mutation 'R5805:Kifc2'
ID |
448467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kifc2
|
Ensembl Gene |
ENSMUSG00000004187 |
Gene Name |
kinesin family member C2 |
Synonyms |
|
MMRRC Submission |
043212-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5805 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 76546353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 245
(A245V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004294
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000177359]
[ENSMUST00000230451]
[ENSMUST00000231152]
[ENSMUST00000230964]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004294
AA Change: A245V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000004294 Gene: ENSMUSG00000004187 AA Change: A245V
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: ENSMUST00000066677
|
SMART Domains |
Protein: ENSMUSP00000063317 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081291
|
SMART Domains |
Protein: ENSMUSP00000080043 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177359
|
SMART Domains |
Protein: ENSMUSP00000135505 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229513
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230451
AA Change: A160V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
C |
T |
11: 110,170,216 (GRCm39) |
C1293Y |
probably benign |
Het |
Adam8 |
T |
A |
7: 139,565,794 (GRCm39) |
D611V |
probably damaging |
Het |
Arhgap33 |
T |
C |
7: 30,225,839 (GRCm39) |
T576A |
probably benign |
Het |
Atf7 |
A |
T |
15: 102,466,022 (GRCm39) |
|
probably null |
Het |
Baiap3 |
T |
A |
17: 25,466,489 (GRCm39) |
T464S |
probably benign |
Het |
Ccdc40 |
T |
C |
11: 119,136,906 (GRCm39) |
|
probably null |
Het |
Celf2 |
T |
C |
2: 6,558,598 (GRCm39) |
E430G |
probably damaging |
Het |
Chia1 |
A |
G |
3: 106,035,792 (GRCm39) |
T211A |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,257,408 (GRCm39) |
F151S |
probably damaging |
Het |
Dnm2 |
A |
G |
9: 21,378,965 (GRCm39) |
T175A |
probably damaging |
Het |
Doc2b |
A |
G |
11: 75,663,364 (GRCm39) |
S363P |
probably damaging |
Het |
Garem1 |
C |
T |
18: 21,281,492 (GRCm39) |
R288H |
probably benign |
Het |
Gpr132 |
G |
A |
12: 112,816,416 (GRCm39) |
R137C |
probably damaging |
Het |
Helz2 |
C |
A |
2: 180,882,301 (GRCm39) |
C164F |
probably damaging |
Het |
Itfg1 |
A |
T |
8: 86,493,601 (GRCm39) |
S293T |
probably benign |
Het |
Kcnn2 |
T |
A |
18: 45,816,198 (GRCm39) |
D336E |
probably damaging |
Het |
Krt18 |
T |
A |
15: 101,939,735 (GRCm39) |
I311N |
probably benign |
Het |
Lypla1 |
T |
C |
1: 4,900,517 (GRCm39) |
M7T |
possibly damaging |
Het |
Mef2a |
T |
C |
7: 66,901,416 (GRCm39) |
M285V |
possibly damaging |
Het |
Micu1 |
A |
C |
10: 59,663,128 (GRCm39) |
K353Q |
possibly damaging |
Het |
Mpv17l |
A |
G |
16: 13,760,013 (GRCm39) |
|
probably benign |
Het |
Ntrk1 |
G |
A |
3: 87,687,479 (GRCm39) |
R652W |
probably damaging |
Het |
Or13a28 |
T |
A |
7: 140,218,384 (GRCm39) |
F257I |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,855,152 (GRCm39) |
I281T |
probably benign |
Het |
Or4c107 |
G |
A |
2: 88,788,985 (GRCm39) |
M58I |
possibly damaging |
Het |
Pcdh15 |
C |
A |
10: 74,066,091 (GRCm39) |
T252K |
probably damaging |
Het |
Pcsk5 |
T |
C |
19: 17,434,193 (GRCm39) |
M1392V |
probably benign |
Het |
Phf20 |
T |
A |
2: 156,149,214 (GRCm39) |
V964E |
probably damaging |
Het |
Pira13 |
G |
A |
7: 3,825,622 (GRCm39) |
L416F |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,325,234 (GRCm39) |
|
probably null |
Het |
Rnf10 |
A |
T |
5: 115,382,127 (GRCm39) |
C693S |
probably benign |
Het |
Rnf19b |
A |
G |
4: 128,952,617 (GRCm39) |
Y185C |
probably damaging |
Het |
Ros1 |
G |
T |
10: 51,999,385 (GRCm39) |
D1167E |
probably damaging |
Het |
Sidt2 |
G |
A |
9: 45,853,497 (GRCm39) |
S701L |
probably damaging |
Het |
Slc66a2 |
C |
T |
18: 80,306,658 (GRCm39) |
P76L |
probably damaging |
Het |
Spag1 |
T |
C |
15: 36,200,430 (GRCm39) |
I345T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,141,211 (GRCm39) |
S1603T |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,678,831 (GRCm39) |
Y251N |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,776,330 (GRCm39) |
N33S |
probably benign |
Het |
Tnrc6a |
T |
C |
7: 122,769,299 (GRCm39) |
L363P |
probably damaging |
Het |
U2surp |
C |
T |
9: 95,361,357 (GRCm39) |
R591H |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,041,109 (GRCm39) |
N1863S |
possibly damaging |
Het |
Vmn2r15 |
T |
C |
5: 109,434,806 (GRCm39) |
I633V |
possibly damaging |
Het |
Zfp979 |
T |
C |
4: 147,698,067 (GRCm39) |
D214G |
probably damaging |
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 |
R3086:Kifc2
|
UTSW |
15 |
76,551,452 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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'- GAGCTGAGTAGACTTCGTCTGG -3'
(R):5'- TCCTGAGGTTTCACAGAGAGAC -3'
Sequencing Primer
(F):5'- AGTAGACTTCGTCTGGGAGTG -3'
(R):5'- GTTCATAGTTAGAGATGGCCCCCAC -3'
|
Posted On |
2016-12-15 |