Incidental Mutation 'R0731:Kif23'
ID |
67568 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif23
|
Ensembl Gene |
ENSMUSG00000032254 |
Gene Name |
kinesin family member 23 |
Synonyms |
Knsl5, CHO1, C87313, MKLP-1, 3110001D19Rik, MKLP1 |
MMRRC Submission |
038912-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.972)
|
Stock # |
R0731 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61832314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 610
(R610G)
|
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: R610G
PolyPhen 2
Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000034815 Gene: ENSMUSG00000032254 AA Change: R610G
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: ENSMUST00000215965
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216812
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215743
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216717
|
Meta Mutation Damage Score |
0.1412 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
97% (73/75) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
A |
T |
7: 119,367,247 (GRCm39) |
R27* |
probably null |
Het |
Actg1 |
A |
G |
11: 120,237,775 (GRCm39) |
F255S |
probably damaging |
Het |
Ahdc1 |
T |
A |
4: 132,790,262 (GRCm39) |
V501E |
possibly damaging |
Het |
Alpk2 |
A |
T |
18: 65,438,461 (GRCm39) |
D1444E |
probably damaging |
Het |
Btaf1 |
T |
G |
19: 36,974,895 (GRCm39) |
|
probably null |
Het |
Cacnb2 |
A |
G |
2: 14,990,517 (GRCm39) |
H489R |
possibly damaging |
Het |
Ccdc162 |
C |
A |
10: 41,455,139 (GRCm39) |
K398N |
probably damaging |
Het |
Cd79b |
G |
T |
11: 106,203,259 (GRCm39) |
S145R |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,394,651 (GRCm39) |
N264Y |
probably damaging |
Het |
Celsr1 |
T |
C |
15: 85,785,798 (GRCm39) |
D2892G |
probably benign |
Het |
Chuk |
A |
G |
19: 44,092,205 (GRCm39) |
|
probably benign |
Het |
Clk3 |
T |
C |
9: 57,658,409 (GRCm39) |
|
probably benign |
Het |
Dcaf8 |
A |
T |
1: 172,000,076 (GRCm39) |
D78V |
possibly damaging |
Het |
Dctn1 |
A |
G |
6: 83,160,071 (GRCm39) |
T87A |
probably damaging |
Het |
Ddx50 |
T |
C |
10: 62,452,028 (GRCm39) |
N732D |
unknown |
Het |
Dnah5 |
A |
T |
15: 28,311,289 (GRCm39) |
Y1756F |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,847,055 (GRCm39) |
V858E |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,865,990 (GRCm39) |
F1566S |
probably benign |
Het |
Fpr-rs7 |
T |
C |
17: 20,334,116 (GRCm39) |
I125V |
probably benign |
Het |
Fuca2 |
C |
T |
10: 13,381,771 (GRCm39) |
P228L |
probably benign |
Het |
Galntl6 |
A |
G |
8: 58,989,018 (GRCm39) |
F57L |
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,335,449 (GRCm39) |
|
probably benign |
Het |
Gm16505 |
A |
T |
13: 3,411,329 (GRCm39) |
|
noncoding transcript |
Het |
Gm4781 |
T |
C |
10: 100,232,639 (GRCm39) |
|
noncoding transcript |
Het |
Gm9956 |
T |
A |
10: 56,621,639 (GRCm39) |
Y100* |
probably null |
Het |
Gpr137c |
T |
A |
14: 45,483,806 (GRCm39) |
C178S |
probably damaging |
Het |
Gpr83 |
A |
G |
9: 14,779,940 (GRCm39) |
R331G |
probably benign |
Het |
Hlcs |
T |
A |
16: 93,932,711 (GRCm39) |
H851L |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,476,107 (GRCm39) |
S615G |
probably benign |
Het |
Kbtbd6 |
C |
A |
14: 79,689,324 (GRCm39) |
Y6* |
probably null |
Het |
Kifc3 |
G |
A |
8: 95,832,361 (GRCm39) |
T487I |
probably damaging |
Het |
Klra5 |
A |
C |
6: 129,885,759 (GRCm39) |
D133E |
possibly damaging |
Het |
Klra6 |
T |
C |
6: 129,999,668 (GRCm39) |
E100G |
probably damaging |
Het |
Klre1 |
T |
A |
6: 129,562,531 (GRCm39) |
|
probably benign |
Het |
Lancl1 |
C |
T |
1: 67,049,069 (GRCm39) |
|
probably null |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Man1b1 |
A |
G |
2: 25,228,167 (GRCm39) |
I146V |
possibly damaging |
Het |
Map4k5 |
T |
A |
12: 69,921,038 (GRCm39) |
|
probably benign |
Het |
Mast3 |
A |
G |
8: 71,233,965 (GRCm39) |
S178P |
probably damaging |
Het |
Mau2 |
A |
G |
8: 70,476,262 (GRCm39) |
|
probably null |
Het |
Mgat4f |
A |
C |
1: 134,317,713 (GRCm39) |
M162L |
probably benign |
Het |
Mkrn2 |
A |
T |
6: 115,591,612 (GRCm39) |
N312Y |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,093,359 (GRCm39) |
E150G |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,094,878 (GRCm39) |
|
probably null |
Het |
Nyap1 |
A |
G |
5: 137,733,560 (GRCm39) |
V491A |
probably damaging |
Het |
Or10a3 |
A |
T |
7: 108,480,740 (GRCm39) |
N24K |
probably damaging |
Het |
Or4g17 |
A |
G |
2: 111,209,638 (GRCm39) |
M98V |
probably damaging |
Het |
Or5p60 |
T |
C |
7: 107,723,941 (GRCm39) |
I176M |
probably benign |
Het |
Or8g34 |
T |
C |
9: 39,372,828 (GRCm39) |
F34L |
probably damaging |
Het |
Oxsm |
A |
T |
14: 16,240,893 (GRCm38) |
H385Q |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,892,590 (GRCm39) |
S242P |
probably damaging |
Het |
Pdzd7 |
T |
C |
19: 45,017,744 (GRCm39) |
Y675C |
probably damaging |
Het |
Pnkd |
T |
A |
1: 74,390,700 (GRCm39) |
H266Q |
probably damaging |
Het |
Rbfox2 |
A |
G |
15: 76,983,479 (GRCm39) |
S141P |
probably benign |
Het |
Rdx |
A |
G |
9: 51,979,518 (GRCm39) |
T214A |
probably benign |
Het |
Ripor2 |
A |
T |
13: 24,864,627 (GRCm39) |
E219V |
probably damaging |
Het |
Rlig1 |
T |
C |
10: 100,422,065 (GRCm39) |
T66A |
probably damaging |
Het |
Rufy2 |
G |
A |
10: 62,847,623 (GRCm39) |
|
probably benign |
Het |
Slf2 |
T |
A |
19: 44,964,165 (GRCm39) |
|
probably benign |
Het |
Snrnp200 |
G |
T |
2: 127,068,065 (GRCm39) |
|
probably benign |
Het |
Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
Stt3a |
T |
C |
9: 36,646,808 (GRCm39) |
I602V |
probably damaging |
Het |
Tacr3 |
G |
A |
3: 134,560,761 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
C |
T |
18: 42,704,905 (GRCm39) |
T978M |
probably damaging |
Het |
Tcf7l1 |
G |
T |
6: 72,765,252 (GRCm39) |
P126Q |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,194,556 (GRCm39) |
D860G |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,281,301 (GRCm39) |
L81P |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,024,476 (GRCm39) |
|
probably benign |
Het |
Ugt2b38 |
G |
A |
5: 87,568,311 (GRCm39) |
A328V |
probably damaging |
Het |
Wfikkn1 |
T |
A |
17: 26,096,991 (GRCm39) |
R444S |
probably damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,246,537 (GRCm39) |
T875A |
probably benign |
Het |
Zfp11 |
A |
G |
5: 129,734,328 (GRCm39) |
S378P |
probably damaging |
Het |
Zfp984 |
T |
A |
4: 147,840,689 (GRCm39) |
N54I |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACGCTCCTACAGAGAGCAATGAC -3'
(R):5'- TGCAGGTGAGTGTGTCCACAAG -3'
Sequencing Primer
(F):5'- GCAATGACAACTCAGTCTACTTTAG -3'
(R):5'- AAGGGCTATTTCTTCTACAGTTAGG -3'
|
Posted On |
2013-09-03 |