Incidental Mutation 'IGL03233:Kif23'
| ID |
413969 |
| 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 # |
IGL03233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61833735 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 489
(I489F)
|
| 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: I489F
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: I489F
| 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: I503F
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214940
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216812
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,260,357 (GRCm39) |
F856S |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,727,739 (GRCm39) |
D457G |
probably damaging |
Het |
| Ankrd26 |
G |
T |
6: 118,512,107 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,220,116 (GRCm39) |
P405T |
probably damaging |
Het |
| Asah2 |
T |
A |
19: 32,032,031 (GRCm39) |
N46I |
probably benign |
Het |
| Atg4c |
A |
T |
4: 99,117,740 (GRCm39) |
Y343F |
probably benign |
Het |
| Cab39 |
T |
A |
1: 85,770,044 (GRCm39) |
M175K |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,263,600 (GRCm39) |
E1257G |
probably benign |
Het |
| Ces1d |
A |
G |
8: 93,921,707 (GRCm39) |
Y19H |
probably benign |
Het |
| Cst6 |
T |
C |
19: 5,399,289 (GRCm39) |
D25G |
probably damaging |
Het |
| Cyp4a30b |
A |
T |
4: 115,316,167 (GRCm39) |
T298S |
probably benign |
Het |
| Dgkk |
T |
C |
X: 6,770,077 (GRCm39) |
L352P |
probably damaging |
Het |
| Dnai7 |
A |
T |
6: 145,127,611 (GRCm39) |
Y433N |
probably damaging |
Het |
| Dync2h1 |
A |
C |
9: 7,101,525 (GRCm39) |
F482V |
possibly damaging |
Het |
| Esco1 |
A |
G |
18: 10,574,877 (GRCm39) |
W208R |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,235,449 (GRCm39) |
D676G |
probably benign |
Het |
| Foxp3 |
T |
C |
X: 7,453,662 (GRCm39) |
|
probably benign |
Het |
| Gpr108 |
T |
A |
17: 57,552,042 (GRCm39) |
I123F |
probably benign |
Het |
| Gsdmc4 |
A |
T |
15: 63,774,709 (GRCm39) |
V24E |
probably damaging |
Het |
| Jam3 |
C |
A |
9: 27,013,217 (GRCm39) |
V118F |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,614,095 (GRCm39) |
V1288D |
probably damaging |
Het |
| Mark2 |
G |
T |
19: 7,262,091 (GRCm39) |
H308N |
possibly damaging |
Het |
| Mms19 |
T |
C |
19: 41,935,352 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
T |
2: 52,198,313 (GRCm39) |
I477N |
possibly damaging |
Het |
| Npm1 |
G |
T |
11: 33,106,717 (GRCm39) |
Q204K |
probably benign |
Het |
| Nsun5 |
G |
A |
5: 135,404,299 (GRCm39) |
V369M |
probably damaging |
Het |
| Or7a39 |
C |
A |
10: 78,715,406 (GRCm39) |
Y133* |
probably null |
Het |
| Pcdhb13 |
T |
A |
18: 37,577,318 (GRCm39) |
N565K |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,258,924 (GRCm39) |
F1155L |
possibly damaging |
Het |
| Pus10 |
T |
A |
11: 23,662,241 (GRCm39) |
W304R |
probably damaging |
Het |
| Rab32 |
G |
A |
10: 10,422,057 (GRCm39) |
Q221* |
probably null |
Het |
| Rlf |
A |
G |
4: 121,039,797 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
T |
16: 72,767,081 (GRCm39) |
I418F |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,259,918 (GRCm39) |
I642T |
possibly damaging |
Het |
| Ston2 |
T |
A |
12: 91,614,627 (GRCm39) |
T594S |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,229,726 (GRCm39) |
T2802A |
unknown |
Het |
| Tshz3 |
T |
A |
7: 36,469,504 (GRCm39) |
Y498N |
probably damaging |
Het |
| Zfp280b |
T |
A |
10: 75,875,603 (GRCm39) |
I494N |
probably damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,567 (GRCm39) |
Q515R |
possibly 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 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation