Incidental Mutation 'IGL02698:Kif23'
ID |
304003 |
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 # |
IGL02698
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 61832283 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 620
(T620I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034815
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034815]
[ENSMUST00000214295]
|
AlphaFold |
E9Q5G3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034815
AA Change: T620I
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034815 Gene: ENSMUSG00000032254 AA Change: T620I
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: ENSMUST00000213159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213595
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214295
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214940
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215319
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215965
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216746
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpp21 |
T |
A |
9: 112,014,812 (GRCm39) |
|
probably benign |
Het |
Car8 |
A |
T |
4: 8,185,598 (GRCm39) |
I186N |
probably benign |
Het |
Ccdc174 |
G |
A |
6: 91,867,834 (GRCm39) |
S183N |
probably benign |
Het |
Ccdc66 |
T |
A |
14: 27,212,749 (GRCm39) |
K525* |
probably null |
Het |
Cebpz |
A |
G |
17: 79,243,003 (GRCm39) |
V217A |
probably benign |
Het |
Cfap36 |
C |
A |
11: 29,197,014 (GRCm39) |
|
probably null |
Het |
Cpne4 |
T |
C |
9: 104,909,984 (GRCm39) |
V527A |
probably damaging |
Het |
Crh |
T |
G |
3: 19,748,354 (GRCm39) |
D96A |
possibly damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcp1a |
A |
T |
14: 30,227,499 (GRCm39) |
|
probably benign |
Het |
Ddhd1 |
A |
T |
14: 45,842,663 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
C |
T |
1: 86,976,551 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
C |
9: 86,406,412 (GRCm39) |
|
probably benign |
Het |
Etv3 |
A |
G |
3: 87,443,885 (GRCm39) |
T490A |
possibly damaging |
Het |
Fastkd2 |
A |
G |
1: 63,787,158 (GRCm39) |
T531A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,476,201 (GRCm39) |
A1749V |
probably benign |
Het |
Fgfr1 |
T |
A |
8: 26,063,624 (GRCm39) |
L761* |
probably null |
Het |
Gcc2 |
A |
G |
10: 58,107,112 (GRCm39) |
K683E |
possibly damaging |
Het |
Gm5117 |
C |
T |
8: 32,229,767 (GRCm39) |
|
noncoding transcript |
Het |
Hif1a |
T |
C |
12: 73,977,545 (GRCm39) |
|
probably null |
Het |
Inha |
A |
G |
1: 75,486,527 (GRCm39) |
E274G |
probably damaging |
Het |
Itih2 |
G |
T |
2: 10,135,312 (GRCm39) |
P26H |
probably damaging |
Het |
Klhl30 |
T |
C |
1: 91,281,429 (GRCm39) |
F10S |
probably damaging |
Het |
Kmt2b |
T |
C |
7: 30,278,118 (GRCm39) |
|
probably benign |
Het |
Lmf2 |
A |
C |
15: 89,238,357 (GRCm39) |
L174R |
probably damaging |
Het |
Med13l |
T |
C |
5: 118,900,894 (GRCm39) |
L2216P |
probably damaging |
Het |
Mmp1b |
T |
A |
9: 7,384,877 (GRCm39) |
L257F |
probably damaging |
Het |
Net1 |
A |
G |
13: 3,937,569 (GRCm39) |
|
probably null |
Het |
Nfasc |
A |
G |
1: 132,562,475 (GRCm39) |
V100A |
probably benign |
Het |
Nr4a2 |
A |
G |
2: 56,998,172 (GRCm39) |
F535S |
probably damaging |
Het |
Ntn4 |
G |
T |
10: 93,480,521 (GRCm39) |
A45S |
probably benign |
Het |
Or2y1c |
T |
A |
11: 49,361,690 (GRCm39) |
F237L |
probably benign |
Het |
Or4a27 |
T |
A |
2: 88,559,815 (GRCm39) |
I43F |
probably damaging |
Het |
Or52a20 |
T |
C |
7: 103,366,485 (GRCm39) |
V228A |
probably damaging |
Het |
Or5w17 |
T |
A |
2: 87,584,188 (GRCm39) |
K50* |
probably null |
Het |
Or8c9 |
A |
G |
9: 38,241,506 (GRCm39) |
T208A |
probably benign |
Het |
Pappa |
A |
T |
4: 65,099,257 (GRCm39) |
E592V |
probably damaging |
Het |
Pate10 |
T |
C |
9: 35,652,416 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,109,032 (GRCm39) |
I1630N |
probably damaging |
Het |
Ptprb |
A |
G |
10: 116,199,185 (GRCm39) |
D1997G |
probably benign |
Het |
Rc3h2 |
A |
T |
2: 37,295,312 (GRCm39) |
S235T |
probably damaging |
Het |
S1pr1 |
T |
A |
3: 115,505,746 (GRCm39) |
K283* |
probably null |
Het |
Scn5a |
T |
A |
9: 119,350,163 (GRCm39) |
T904S |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,495,643 (GRCm39) |
L30P |
possibly damaging |
Het |
Slc26a7 |
A |
C |
4: 14,593,867 (GRCm39) |
S83A |
possibly damaging |
Het |
Slco1a6 |
C |
A |
6: 142,048,737 (GRCm39) |
G348* |
probably null |
Het |
Srgap3 |
C |
T |
6: 112,723,889 (GRCm39) |
V524I |
probably damaging |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,688 (GRCm39) |
|
noncoding transcript |
Het |
Sv2b |
C |
T |
7: 74,790,726 (GRCm39) |
|
probably null |
Het |
Sympk |
T |
C |
7: 18,779,559 (GRCm39) |
I663T |
probably benign |
Het |
Ttn |
C |
A |
2: 76,775,115 (GRCm39) |
V1976L |
probably damaging |
Het |
Uqcrc1 |
T |
C |
9: 108,777,011 (GRCm39) |
|
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
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 |
IGL01680:Kif23
|
APN |
9 |
61,839,096 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02450:Kif23
|
APN |
9 |
61,831,239 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |