Incidental Mutation 'IGL02098:Kif6'
ID |
279682 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif6
|
Ensembl Gene |
ENSMUSG00000023999 |
Gene Name |
kinesin family member 6 |
Synonyms |
D130084M03Rik, D130004B10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.135)
|
Stock # |
IGL02098
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
49922164-50216875 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 50177922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 602
(G602D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162854]
|
AlphaFold |
E9PX57 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000162854
AA Change: G602D
PolyPhen 2
Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000124674 Gene: ENSMUSG00000023999 AA Change: G602D
Domain | Start | End | E-Value | Type |
KISc
|
3 |
353 |
1.67e-121 |
SMART |
coiled coil region
|
358 |
385 |
N/A |
INTRINSIC |
Blast:KISc
|
400 |
606 |
1e-85 |
BLAST |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
C |
T |
8: 41,208,680 (GRCm39) |
P649S |
probably benign |
Het |
Ano3 |
T |
A |
2: 110,496,786 (GRCm39) |
R788* |
probably null |
Het |
Ccdc18 |
A |
G |
5: 108,349,977 (GRCm39) |
E1043G |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,250,655 (GRCm39) |
H691Q |
probably damaging |
Het |
Cts7 |
G |
T |
13: 61,504,343 (GRCm39) |
F73L |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Eef1a2 |
G |
T |
2: 180,794,582 (GRCm39) |
P206T |
probably benign |
Het |
Gcsh |
G |
T |
8: 117,715,875 (GRCm39) |
S69R |
probably damaging |
Het |
Gm9989 |
T |
A |
3: 81,829,528 (GRCm39) |
|
noncoding transcript |
Het |
Igkv6-25 |
C |
T |
6: 70,192,719 (GRCm39) |
T42I |
probably damaging |
Het |
Iqca1 |
T |
C |
1: 89,975,663 (GRCm39) |
Y684C |
probably damaging |
Het |
Klb |
C |
A |
5: 65,537,228 (GRCm39) |
R853S |
probably benign |
Het |
Mad1l1 |
A |
C |
5: 140,296,344 (GRCm39) |
|
probably benign |
Het |
Magi1 |
T |
C |
6: 93,655,768 (GRCm39) |
N1077D |
probably damaging |
Het |
Med12l |
T |
A |
3: 59,183,276 (GRCm39) |
S1858T |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,407,952 (GRCm39) |
E984G |
possibly damaging |
Het |
Necab1 |
T |
A |
4: 14,955,892 (GRCm39) |
|
probably benign |
Het |
Nexn |
G |
A |
3: 151,949,540 (GRCm39) |
R253* |
probably null |
Het |
Npc1l1 |
A |
G |
11: 6,164,581 (GRCm39) |
L1156P |
probably damaging |
Het |
Or2y1 |
T |
A |
11: 49,386,224 (GRCm39) |
I288N |
probably damaging |
Het |
Or5ac15 |
A |
T |
16: 58,940,433 (GRCm39) |
|
probably benign |
Het |
Or5b99 |
A |
G |
19: 12,976,937 (GRCm39) |
I196V |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,187 (GRCm39) |
S217P |
probably damaging |
Het |
Pramel25 |
T |
A |
4: 143,520,248 (GRCm39) |
|
probably null |
Het |
Rassf7 |
T |
C |
7: 140,798,203 (GRCm39) |
S381P |
possibly damaging |
Het |
Rdh7 |
G |
T |
10: 127,720,607 (GRCm39) |
T255K |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,520,544 (GRCm39) |
I119F |
possibly damaging |
Het |
Slc15a3 |
T |
A |
19: 10,826,042 (GRCm39) |
F244L |
probably damaging |
Het |
Syde1 |
T |
C |
10: 78,425,205 (GRCm39) |
S269G |
probably damaging |
Het |
Teddm2 |
C |
T |
1: 153,726,081 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,729,611 (GRCm39) |
D1465G |
possibly damaging |
Het |
Zkscan2 |
A |
T |
7: 123,099,064 (GRCm39) |
S43T |
probably benign |
Het |
|
Other mutations in Kif6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01793:Kif6
|
APN |
17 |
49,931,521 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02259:Kif6
|
APN |
17 |
50,202,919 (GRCm39) |
splice site |
probably benign |
|
IGL03003:Kif6
|
APN |
17 |
50,060,899 (GRCm39) |
nonsense |
probably null |
|
PIT4280001:Kif6
|
UTSW |
17 |
50,062,148 (GRCm39) |
missense |
probably benign |
0.32 |
R0044:Kif6
|
UTSW |
17 |
50,139,284 (GRCm39) |
splice site |
probably benign |
|
R1180:Kif6
|
UTSW |
17 |
50,139,284 (GRCm39) |
splice site |
probably benign |
|
R1432:Kif6
|
UTSW |
17 |
49,927,728 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Kif6
|
UTSW |
17 |
50,021,141 (GRCm39) |
missense |
probably damaging |
0.99 |
R1760:Kif6
|
UTSW |
17 |
49,922,311 (GRCm39) |
missense |
probably benign |
0.00 |
R1770:Kif6
|
UTSW |
17 |
50,210,677 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1809:Kif6
|
UTSW |
17 |
50,208,812 (GRCm39) |
missense |
probably benign |
0.00 |
R1854:Kif6
|
UTSW |
17 |
50,208,799 (GRCm39) |
missense |
probably benign |
0.25 |
R2176:Kif6
|
UTSW |
17 |
50,062,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R3766:Kif6
|
UTSW |
17 |
50,065,671 (GRCm39) |
splice site |
probably benign |
|
R4620:Kif6
|
UTSW |
17 |
50,208,324 (GRCm39) |
missense |
probably benign |
|
R4661:Kif6
|
UTSW |
17 |
50,060,909 (GRCm39) |
missense |
probably benign |
0.21 |
R4972:Kif6
|
UTSW |
17 |
50,014,647 (GRCm39) |
missense |
probably damaging |
1.00 |
R5735:Kif6
|
UTSW |
17 |
50,139,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R5950:Kif6
|
UTSW |
17 |
50,022,116 (GRCm39) |
missense |
probably damaging |
0.99 |
R6364:Kif6
|
UTSW |
17 |
49,927,651 (GRCm39) |
missense |
probably benign |
0.01 |
R7604:Kif6
|
UTSW |
17 |
49,978,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R7879:Kif6
|
UTSW |
17 |
50,139,214 (GRCm39) |
missense |
probably benign |
0.08 |
R7966:Kif6
|
UTSW |
17 |
49,993,453 (GRCm39) |
missense |
probably damaging |
0.98 |
R8246:Kif6
|
UTSW |
17 |
50,065,542 (GRCm39) |
nonsense |
probably null |
|
R8487:Kif6
|
UTSW |
17 |
49,978,164 (GRCm39) |
missense |
probably damaging |
1.00 |
X0067:Kif6
|
UTSW |
17 |
50,139,195 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Kif6
|
UTSW |
17 |
50,022,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |