Incidental Mutation 'IGL01341:Kifc2'
| ID |
74866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kifc2
|
| Ensembl Gene |
ENSMUSG00000004187 |
| Gene Name |
kinesin family member C2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 76547098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155536
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000177359]
[ENSMUST00000231152]
[ENSMUST00000230964]
[ENSMUST00000230451]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004294
|
| SMART Domains |
Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
| 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: ENSMUST00000231152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230451
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,989,067 (GRCm39) |
H3450Q |
probably benign |
Het |
| Arcn1 |
A |
G |
9: 44,668,489 (GRCm39) |
I249T |
possibly damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,260,925 (GRCm39) |
R1450H |
probably damaging |
Het |
| Cdh26 |
A |
T |
2: 178,099,240 (GRCm39) |
D113V |
probably damaging |
Het |
| Cnot4 |
A |
G |
6: 35,047,189 (GRCm39) |
V141A |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Ctsll3 |
C |
T |
13: 60,946,813 (GRCm39) |
D269N |
probably benign |
Het |
| Dnttip2 |
T |
C |
3: 122,070,261 (GRCm39) |
I492T |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,635,701 (GRCm39) |
S489G |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,107,562 (GRCm39) |
D46G |
probably damaging |
Het |
| Gm7094 |
A |
G |
1: 21,343,107 (GRCm39) |
|
noncoding transcript |
Het |
| Gmps |
T |
C |
3: 63,922,861 (GRCm39) |
I608T |
probably damaging |
Het |
| Gzma |
A |
G |
13: 113,230,418 (GRCm39) |
|
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,601,978 (GRCm39) |
V280E |
probably damaging |
Het |
| Jak1 |
C |
T |
4: 101,032,290 (GRCm39) |
G439S |
probably damaging |
Het |
| Kars1 |
T |
C |
8: 112,721,606 (GRCm39) |
I556V |
probably benign |
Het |
| Kit |
T |
C |
5: 75,767,734 (GRCm39) |
I39T |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,975,371 (GRCm39) |
R702L |
possibly damaging |
Het |
| Marveld3 |
T |
A |
8: 110,675,049 (GRCm39) |
T256S |
possibly damaging |
Het |
| Nkd1 |
G |
A |
8: 89,318,180 (GRCm39) |
|
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,643 (GRCm39) |
I33L |
probably benign |
Het |
| Or6c212 |
G |
A |
10: 129,558,747 (GRCm39) |
T222I |
possibly damaging |
Het |
| Pax2 |
A |
G |
19: 44,779,127 (GRCm39) |
S167G |
probably damaging |
Het |
| Pdlim3 |
T |
A |
8: 46,368,277 (GRCm39) |
D258E |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,173,691 (GRCm39) |
C393* |
probably null |
Het |
| Pxdn |
T |
C |
12: 30,052,486 (GRCm39) |
S888P |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
| Reln |
T |
A |
5: 22,174,077 (GRCm39) |
I2009F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,653 (GRCm39) |
S627P |
probably benign |
Het |
| Slc2a8 |
T |
A |
2: 32,866,003 (GRCm39) |
Q39L |
probably damaging |
Het |
| Tmem143 |
T |
C |
7: 45,565,558 (GRCm39) |
Y340H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,663 (GRCm39) |
V29246A |
probably damaging |
Het |
| Wdr81 |
T |
C |
11: 75,336,427 (GRCm39) |
D1654G |
probably damaging |
Het |
| Zbtb11 |
T |
G |
16: 55,811,294 (GRCm39) |
L484R |
possibly damaging |
Het |
| Zcchc8 |
A |
G |
5: 123,842,632 (GRCm39) |
V367A |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation