Incidental Mutation 'R2002:Kif23'
| ID |
223210 |
| 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 |
040012-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R2002 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 61834666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 426
(C426*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149553
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034815]
[ENSMUST00000214295]
|
| AlphaFold |
E9Q5G3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034815
AA Change: C412*
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: C412*
| 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 null
Transcript: ENSMUST00000214295
AA Change: C426*
|
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.6%
|
| Validation Efficiency |
97% (72/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930548G14Rik |
T |
C |
15: 46,489,002 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
A |
5: 8,955,989 (GRCm39) |
S98T |
probably benign |
Het |
| Acan |
T |
C |
7: 78,750,541 (GRCm39) |
S1771P |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Ak2 |
T |
A |
4: 128,902,022 (GRCm39) |
S232T |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,657,564 (GRCm39) |
|
probably benign |
Het |
| Ano7 |
T |
C |
1: 93,328,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,086,300 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Apaf1 |
A |
G |
10: 90,897,676 (GRCm39) |
V269A |
possibly damaging |
Het |
| Apba2 |
A |
T |
7: 64,383,290 (GRCm39) |
I368F |
probably damaging |
Het |
| Armc3 |
A |
G |
2: 19,293,747 (GRCm39) |
M513V |
probably benign |
Het |
| Asb5 |
G |
A |
8: 55,036,655 (GRCm39) |
V116M |
probably damaging |
Het |
| Atg16l2 |
A |
G |
7: 100,944,127 (GRCm39) |
S280P |
possibly damaging |
Het |
| Atp6v0c |
G |
T |
17: 24,383,835 (GRCm39) |
T40K |
probably damaging |
Het |
| Cdk2ap2 |
A |
G |
19: 4,147,903 (GRCm39) |
M57V |
possibly damaging |
Het |
| Cip2a |
T |
C |
16: 48,826,214 (GRCm39) |
|
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,704 (GRCm39) |
N172S |
probably benign |
Het |
| Ddx55 |
T |
A |
5: 124,704,503 (GRCm39) |
V370E |
probably damaging |
Het |
| Ddx6 |
A |
G |
9: 44,518,831 (GRCm39) |
T48A |
probably benign |
Het |
| Dnah10 |
C |
T |
5: 124,911,052 (GRCm39) |
R4490W |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,326,425 (GRCm39) |
S929R |
unknown |
Het |
| Erbb3 |
T |
C |
10: 128,422,094 (GRCm39) |
Y50C |
probably benign |
Het |
| Fam209 |
C |
A |
2: 172,314,689 (GRCm39) |
N59K |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,449,931 (GRCm39) |
E106G |
probably benign |
Het |
| Frmd4a |
A |
C |
2: 4,577,176 (GRCm39) |
K344T |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,325,814 (GRCm39) |
E617G |
probably damaging |
Het |
| Gm5089 |
T |
A |
14: 122,673,686 (GRCm39) |
I12F |
unknown |
Het |
| Gm7052 |
T |
A |
17: 22,258,920 (GRCm39) |
|
probably benign |
Het |
| Gria1 |
A |
T |
11: 56,902,930 (GRCm39) |
N24I |
possibly damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,243 (GRCm39) |
E1101G |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
C |
14: 23,387,097 (GRCm39) |
S982A |
probably damaging |
Het |
| Khdrbs3 |
T |
A |
15: 68,885,328 (GRCm39) |
|
probably benign |
Het |
| Lmo7 |
G |
T |
14: 102,124,497 (GRCm39) |
A319S |
probably benign |
Het |
| Ly6c1 |
T |
A |
15: 74,920,342 (GRCm39) |
T7S |
possibly damaging |
Het |
| Magel2 |
G |
A |
7: 62,028,844 (GRCm39) |
V583I |
unknown |
Het |
| Mamdc4 |
A |
T |
2: 25,457,244 (GRCm39) |
W548R |
probably damaging |
Het |
| Mfsd2a |
C |
T |
4: 122,850,609 (GRCm39) |
R88Q |
probably damaging |
Het |
| Mkrn1 |
T |
C |
6: 39,382,737 (GRCm39) |
T158A |
probably benign |
Het |
| Mroh2b |
G |
T |
15: 4,955,166 (GRCm39) |
D720Y |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,485,839 (GRCm39) |
V1041A |
probably damaging |
Het |
| Ncam2 |
A |
T |
16: 81,386,586 (GRCm39) |
H655L |
possibly damaging |
Het |
| Npas2 |
T |
C |
1: 39,377,276 (GRCm39) |
V546A |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 90,299,089 (GRCm39) |
A400T |
probably damaging |
Het |
| Oog3 |
G |
T |
4: 143,884,675 (GRCm39) |
H420Q |
possibly damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,865 (GRCm39) |
S78R |
possibly damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,744 (GRCm39) |
V316E |
probably benign |
Het |
| Or8k28 |
T |
C |
2: 86,285,817 (GRCm39) |
H266R |
probably benign |
Het |
| Pak5 |
T |
A |
2: 135,958,557 (GRCm39) |
H177L |
probably benign |
Het |
| Pcca |
A |
G |
14: 123,124,477 (GRCm39) |
I683V |
probably benign |
Het |
| Pea15a |
T |
C |
1: 172,026,252 (GRCm39) |
I90V |
probably benign |
Het |
| Plagl1 |
C |
A |
10: 13,004,402 (GRCm39) |
|
probably benign |
Het |
| Prmt1 |
A |
G |
7: 44,628,148 (GRCm39) |
V237A |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,027,833 (GRCm39) |
Y910* |
probably null |
Het |
| Rasal3 |
T |
A |
17: 32,612,585 (GRCm39) |
T757S |
probably damaging |
Het |
| Rbbp8 |
T |
C |
18: 11,860,223 (GRCm39) |
|
probably benign |
Het |
| S1pr1 |
A |
G |
3: 115,506,544 (GRCm39) |
S17P |
probably benign |
Het |
| Scel |
G |
A |
14: 103,779,421 (GRCm39) |
V131M |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,512,427 (GRCm39) |
R188Q |
probably null |
Het |
| Snap29 |
T |
A |
16: 17,224,190 (GRCm39) |
Y68* |
probably null |
Het |
| Spdl1 |
T |
C |
11: 34,713,473 (GRCm39) |
T199A |
probably benign |
Het |
| Srbd1 |
T |
C |
17: 86,449,828 (GRCm39) |
N14D |
probably benign |
Het |
| Ston1 |
G |
A |
17: 88,942,957 (GRCm39) |
G121D |
probably benign |
Het |
| Syt16 |
G |
A |
12: 74,281,977 (GRCm39) |
G367E |
possibly damaging |
Het |
| Tdpoz1 |
T |
C |
3: 93,578,710 (GRCm39) |
T25A |
possibly damaging |
Het |
| Tmem182 |
T |
A |
1: 40,845,355 (GRCm39) |
Y77N |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,687,627 (GRCm39) |
|
probably benign |
Het |
| Trp73 |
T |
C |
4: 154,165,902 (GRCm39) |
T56A |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,959,947 (GRCm39) |
K1194R |
probably damaging |
Het |
| Ttc39c |
T |
A |
18: 12,830,935 (GRCm39) |
|
probably null |
Het |
| Ube4b |
T |
C |
4: 149,468,254 (GRCm39) |
D174G |
probably benign |
Het |
| Vmn1r211 |
A |
T |
13: 23,035,953 (GRCm39) |
M238K |
probably damaging |
Het |
| Wsb2 |
T |
A |
5: 117,508,798 (GRCm39) |
N77K |
probably benign |
Het |
| Xkr4 |
C |
T |
1: 3,741,318 (GRCm39) |
R85Q |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,739,514 (GRCm39) |
|
probably null |
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 |
|
|
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'- AGAGCCTGTAAAAGCAAGCC -3'
(R):5'- GAGAACCAGACGTATGGCAC -3'
Sequencing Primer
(F):5'- ACCTATCCTTCTTTATGGAGGGC -3'
(R):5'- ACGTATGGCACTAACAAGGTAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation