Incidental Mutation 'R9533:Kif23'
| ID |
719567 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R9533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61832924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 535
(S535L)
|
| 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: S535L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: S535L
| 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 |
probably benign
Transcript: ENSMUST00000214295
AA Change: S549L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
| Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
| Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
| C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
| Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
| Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
| Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
| Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
| Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,519,808 (GRCm39) |
D125G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
| Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
| Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
| P3h2 |
T |
C |
16: 25,789,725 (GRCm39) |
Y514C |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
| Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
| Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,327,034 (GRCm39) |
V209A |
unknown |
Het |
| Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
| Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
| Tspan1 |
T |
A |
4: 116,020,211 (GRCm39) |
M233L |
probably benign |
Het |
| Zfp574 |
G |
A |
7: 24,780,379 (GRCm39) |
G467D |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
| Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
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 |
|
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 |
|
Z1177:Kif23
|
UTSW |
9 |
61,831,445 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGCTGTTCTGAGAGCAC -3'
(R):5'- CTCCTATAGGTTCAAGAGTCAAACTC -3'
Sequencing Primer
(F):5'- TTCTGAGAGCACTGCCGAAC -3'
(R):5'- GGTTCAAGAGTCAAACTCCTAATTTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation