Incidental Mutation 'IGL01680:Kif23'
| ID |
103762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif23
|
| Ensembl Gene |
ENSMUSG00000032254 |
| Gene Name |
kinesin family member 23 |
| Synonyms |
Knsl5, CHO1, C87313, MKLP-1, 3110001D19Rik, MKLP1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
IGL01680
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61839096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 319
(D319G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034815]
[ENSMUST00000214295]
|
| AlphaFold |
E9Q5G3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034815
AA Change: D319G
PolyPhen 2
Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: D319G
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
23 |
444 |
6.56e-147 |
SMART |
|
Blast:KISc
|
524 |
607 |
8e-20 |
BLAST |
|
low complexity region
|
661 |
678 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
728 |
N/A |
INTRINSIC |
|
Pfam:MKLP1_Arf_bdg
|
796 |
899 |
9.2e-47 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213595
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214295
AA Change: D333G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216717
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of kinesin-like protein family. This family includes microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. This protein has been shown to cross-bridge antiparallel microtubules and drive microtubule movement in vitro. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,709,620 (GRCm39) |
W121R |
unknown |
Het |
| Adprh |
C |
T |
16: 38,270,578 (GRCm39) |
G76S |
possibly damaging |
Het |
| Arhgap31 |
T |
C |
16: 38,423,976 (GRCm39) |
T697A |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,680,705 (GRCm39) |
M489T |
probably benign |
Het |
| Clec5a |
A |
G |
6: 40,561,314 (GRCm39) |
Y44H |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,833,426 (GRCm39) |
H950R |
probably damaging |
Het |
| Dennd10 |
A |
G |
19: 60,805,972 (GRCm39) |
T86A |
possibly damaging |
Het |
| Dgkz |
G |
T |
2: 91,766,210 (GRCm39) |
P784T |
probably benign |
Het |
| Dok1 |
T |
C |
6: 83,008,293 (GRCm39) |
D463G |
possibly damaging |
Het |
| Eif4a2 |
C |
A |
16: 22,927,941 (GRCm39) |
Q94K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,055,956 (GRCm39) |
L1710P |
probably damaging |
Het |
| Fign |
A |
G |
2: 63,808,988 (GRCm39) |
|
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,137 (GRCm39) |
|
probably null |
Het |
| Gga2 |
G |
T |
7: 121,597,299 (GRCm39) |
D363E |
probably benign |
Het |
| Glis2 |
T |
A |
16: 4,429,195 (GRCm39) |
F133I |
possibly damaging |
Het |
| Isg20 |
A |
G |
7: 78,566,333 (GRCm39) |
D94G |
probably damaging |
Het |
| Lbr |
C |
A |
1: 181,663,759 (GRCm39) |
R87L |
probably damaging |
Het |
| Map3k9 |
T |
C |
12: 81,771,513 (GRCm39) |
T715A |
probably benign |
Het |
| Mapk14 |
T |
C |
17: 28,944,820 (GRCm39) |
|
probably null |
Het |
| Mpp4 |
A |
C |
1: 59,169,226 (GRCm39) |
C341W |
probably benign |
Het |
| Mroh9 |
C |
T |
1: 162,875,551 (GRCm39) |
|
probably null |
Het |
| Myo16 |
T |
C |
8: 10,322,630 (GRCm39) |
V20A |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,249 (GRCm39) |
S154P |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,436 (GRCm39) |
C171* |
probably null |
Het |
| Or7c19 |
A |
T |
8: 85,957,308 (GRCm39) |
L61F |
probably benign |
Het |
| Pofut2 |
C |
T |
10: 77,099,127 (GRCm39) |
R186W |
probably damaging |
Het |
| Ppp1r1b |
T |
A |
11: 98,241,392 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
A |
G |
5: 53,218,218 (GRCm39) |
I166V |
probably damaging |
Het |
| Slc4a2 |
A |
G |
5: 24,637,928 (GRCm39) |
T375A |
probably benign |
Het |
| Slitrk5 |
C |
A |
14: 111,916,432 (GRCm39) |
H19N |
probably benign |
Het |
| Sptb |
T |
A |
12: 76,677,456 (GRCm39) |
Q126L |
probably damaging |
Het |
| Stoml1 |
T |
C |
9: 58,163,996 (GRCm39) |
V105A |
probably damaging |
Het |
| Stt3b |
C |
A |
9: 115,075,329 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
T |
C |
13: 92,913,488 (GRCm39) |
E144G |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,498,937 (GRCm39) |
Y49H |
probably damaging |
Het |
| Vmn2r87 |
C |
T |
10: 130,315,586 (GRCm39) |
W160* |
probably null |
Het |
| Zfp647 |
T |
A |
15: 76,801,968 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Kif23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Kif23
|
APN |
9 |
61,833,750 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL00814:Kif23
|
APN |
9 |
61,844,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01295:Kif23
|
APN |
9 |
61,839,411 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01521:Kif23
|
APN |
9 |
61,827,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01583:Kif23
|
APN |
9 |
61,842,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Kif23
|
APN |
9 |
61,831,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02698:Kif23
|
APN |
9 |
61,832,283 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL03152:Kif23
|
APN |
9 |
61,837,058 (GRCm39) |
splice site |
probably benign |
|
|
IGL03233:Kif23
|
APN |
9 |
61,833,735 (GRCm39) |
missense |
probably benign |
0.05 |
|
H8562:Kif23
|
UTSW |
9 |
61,831,347 (GRCm39) |
missense |
probably benign |
|
|
R0225:Kif23
|
UTSW |
9 |
61,832,976 (GRCm39) |
splice site |
probably benign |
|
|
R0419:Kif23
|
UTSW |
9 |
61,833,687 (GRCm39) |
nonsense |
probably null |
|
|
R0512:Kif23
|
UTSW |
9 |
61,826,257 (GRCm39) |
splice site |
probably benign |
|
|
R0731:Kif23
|
UTSW |
9 |
61,832,314 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0980:Kif23
|
UTSW |
9 |
61,844,046 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1315:Kif23
|
UTSW |
9 |
61,831,270 (GRCm39) |
splice site |
probably null |
|
|
R1347:Kif23
|
UTSW |
9 |
61,834,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1347:Kif23
|
UTSW |
9 |
61,834,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1451:Kif23
|
UTSW |
9 |
61,832,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Kif23
|
UTSW |
9 |
61,832,982 (GRCm39) |
splice site |
probably null |
|
|
R1820:Kif23
|
UTSW |
9 |
61,833,720 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1867:Kif23
|
UTSW |
9 |
61,826,243 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1937:Kif23
|
UTSW |
9 |
61,853,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2001:Kif23
|
UTSW |
9 |
61,834,666 (GRCm39) |
nonsense |
probably null |
|
|
R2002:Kif23
|
UTSW |
9 |
61,834,666 (GRCm39) |
nonsense |
probably null |
|
|
R2310:Kif23
|
UTSW |
9 |
61,831,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Kif23
|
UTSW |
9 |
61,844,758 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3196:Kif23
|
UTSW |
9 |
61,839,193 (GRCm39) |
nonsense |
probably null |
|
|
R3774:Kif23
|
UTSW |
9 |
61,832,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3775:Kif23
|
UTSW |
9 |
61,832,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3776:Kif23
|
UTSW |
9 |
61,832,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4349:Kif23
|
UTSW |
9 |
61,839,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Kif23
|
UTSW |
9 |
61,852,641 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4981:Kif23
|
UTSW |
9 |
61,839,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Kif23
|
UTSW |
9 |
61,843,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5685:Kif23
|
UTSW |
9 |
61,852,691 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5721:Kif23
|
UTSW |
9 |
61,851,498 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6903:Kif23
|
UTSW |
9 |
61,834,436 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7067:Kif23
|
UTSW |
9 |
61,832,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7103:Kif23
|
UTSW |
9 |
61,827,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7456:Kif23
|
UTSW |
9 |
61,844,402 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7468:Kif23
|
UTSW |
9 |
61,844,457 (GRCm39) |
nonsense |
probably null |
|
|
R8357:Kif23
|
UTSW |
9 |
61,834,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8457:Kif23
|
UTSW |
9 |
61,834,317 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8716:Kif23
|
UTSW |
9 |
61,844,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Kif23
|
UTSW |
9 |
61,834,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9028:Kif23
|
UTSW |
9 |
61,828,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9137:Kif23
|
UTSW |
9 |
61,834,713 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9283:Kif23
|
UTSW |
9 |
61,852,651 (GRCm39) |
missense |
probably benign |
|
|
R9430:Kif23
|
UTSW |
9 |
61,834,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Kif23
|
UTSW |
9 |
61,851,507 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9533:Kif23
|
UTSW |
9 |
61,832,924 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Kif23
|
UTSW |
9 |
61,831,445 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2014-01-21 |
Incidental Mutation