Incidental Mutation 'R5160:Kifc2'
ID |
396959 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kifc2
|
Ensembl Gene |
ENSMUSG00000004187 |
Gene Name |
kinesin family member C2 |
Synonyms |
|
MMRRC Submission |
042742-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5160 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 76547177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 251
(L251Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000177359]
[ENSMUST00000230451]
[ENSMUST00000230964]
[ENSMUST00000231152]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004294
AA Change: L336Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004294 Gene: ENSMUSG00000004187 AA Change: L336Q
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 damaging
Transcript: ENSMUST00000230451
AA Change: L251Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aftph |
G |
A |
11: 20,662,197 (GRCm39) |
P681L |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,080,007 (GRCm39) |
R1920G |
probably damaging |
Het |
Ano9 |
G |
A |
7: 140,684,278 (GRCm39) |
R495C |
probably damaging |
Het |
Apoa5 |
A |
G |
9: 46,181,794 (GRCm39) |
Y290C |
probably damaging |
Het |
Apob |
T |
C |
12: 8,062,126 (GRCm39) |
I3536T |
possibly damaging |
Het |
Arhgap42 |
T |
G |
9: 8,997,656 (GRCm39) |
K823T |
probably damaging |
Het |
Bicc1 |
T |
C |
10: 70,768,066 (GRCm39) |
Y850C |
probably damaging |
Het |
Cdh2 |
A |
T |
18: 16,762,644 (GRCm39) |
D433E |
probably damaging |
Het |
Cfap100 |
A |
G |
6: 90,390,692 (GRCm39) |
|
probably null |
Het |
Col6a5 |
T |
C |
9: 105,808,208 (GRCm39) |
N947D |
unknown |
Het |
Col8a2 |
A |
G |
4: 126,204,205 (GRCm39) |
K72E |
possibly damaging |
Het |
Ddx18 |
A |
G |
1: 121,493,608 (GRCm39) |
|
probably null |
Het |
Dna2 |
T |
C |
10: 62,782,933 (GRCm39) |
V21A |
probably benign |
Het |
Dnaja3 |
T |
A |
16: 4,502,152 (GRCm39) |
M52K |
probably benign |
Het |
Fnip2 |
G |
A |
3: 79,396,298 (GRCm39) |
T504I |
probably damaging |
Het |
Il18 |
G |
A |
9: 50,489,193 (GRCm39) |
|
probably null |
Het |
Ina |
T |
A |
19: 47,003,519 (GRCm39) |
I109N |
probably damaging |
Het |
Katnb1 |
G |
T |
8: 95,822,098 (GRCm39) |
V275L |
probably benign |
Het |
Kdm6b |
C |
A |
11: 69,291,594 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,738,105 (GRCm39) |
|
probably benign |
Het |
Lcor |
T |
A |
19: 41,544,053 (GRCm39) |
V82E |
probably damaging |
Het |
Limk2 |
A |
C |
11: 3,300,772 (GRCm39) |
V190G |
probably damaging |
Het |
Luc7l |
A |
G |
17: 26,486,271 (GRCm39) |
D150G |
probably benign |
Het |
Magi3 |
T |
A |
3: 103,935,224 (GRCm39) |
H903L |
possibly damaging |
Het |
Mdh1b |
C |
T |
1: 63,764,804 (GRCm39) |
R33Q |
probably null |
Het |
Myo9a |
T |
C |
9: 59,779,085 (GRCm39) |
F1614L |
probably benign |
Het |
Ngly1 |
A |
G |
14: 16,281,751 (GRCm38) |
T210A |
probably damaging |
Het |
Oas1h |
A |
G |
5: 121,009,145 (GRCm39) |
Y285C |
probably damaging |
Het |
Or1l4b |
T |
A |
2: 37,036,815 (GRCm39) |
M197K |
probably benign |
Het |
Or2h1 |
T |
C |
17: 37,404,616 (GRCm39) |
D50G |
possibly damaging |
Het |
Or2y12 |
T |
C |
11: 49,426,516 (GRCm39) |
L168P |
probably damaging |
Het |
Or4a79 |
T |
C |
2: 89,551,763 (GRCm39) |
R231G |
probably damaging |
Het |
Or5ac25 |
C |
T |
16: 59,182,129 (GRCm39) |
G151R |
probably damaging |
Het |
Or9s23 |
C |
T |
1: 92,501,544 (GRCm39) |
T217I |
probably benign |
Het |
Osbpl7 |
T |
C |
11: 96,945,382 (GRCm39) |
S81P |
probably damaging |
Het |
Pcdha3 |
T |
C |
18: 37,079,480 (GRCm39) |
V74A |
probably damaging |
Het |
Pi4ka |
T |
C |
16: 17,140,917 (GRCm39) |
D68G |
probably benign |
Het |
Prkcz |
A |
T |
4: 155,377,689 (GRCm39) |
V79D |
probably benign |
Het |
Ptpn12 |
T |
A |
5: 21,202,829 (GRCm39) |
I650F |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,501,895 (GRCm39) |
|
silent |
Het |
Rnaseh2b |
T |
G |
14: 62,590,980 (GRCm39) |
Y56* |
probably null |
Het |
Ryr3 |
A |
T |
2: 112,477,272 (GRCm39) |
C4495S |
probably damaging |
Het |
Tk1 |
A |
G |
11: 117,715,572 (GRCm39) |
I45T |
possibly damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Upp1 |
T |
C |
11: 9,085,193 (GRCm39) |
S227P |
possibly damaging |
Het |
Vmn1r30 |
T |
A |
6: 58,412,368 (GRCm39) |
N155Y |
probably benign |
Het |
Wdr35 |
C |
T |
12: 9,058,487 (GRCm39) |
A548V |
probably damaging |
Het |
Zc3h3 |
A |
T |
15: 75,681,512 (GRCm39) |
M523K |
probably benign |
Het |
Zc3h4 |
T |
C |
7: 16,168,573 (GRCm39) |
L894P |
unknown |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp873 |
C |
T |
10: 81,896,876 (GRCm39) |
H536Y |
possibly damaging |
Het |
Zmym4 |
A |
T |
4: 126,763,977 (GRCm39) |
N1354K |
probably damaging |
Het |
Zscan20 |
A |
G |
4: 128,486,275 (GRCm39) |
S142P |
possibly 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 |
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'- GCCTGTTTCCTCAGTGACAG -3'
(R):5'- AACAGTAACAGAGGCTCCCCTG -3'
Sequencing Primer
(F):5'- CCTGTTTCCTCAGTGACAGAAGTG -3'
(R):5'- TGGGACAGACAGTGCACAGAC -3'
|
Posted On |
2016-06-21 |