Incidental Mutation 'R5685:Kif23'
| ID |
443292 |
| 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 # |
R5685 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61852691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 8
(T8A)
|
| 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: T8A
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: T8A
| 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: T8A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215404
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028J19Rik |
T |
A |
7: 43,879,974 (GRCm39) |
|
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,896,348 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
G |
T |
17: 31,317,260 (GRCm39) |
E191* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,218,250 (GRCm39) |
Y1263H |
possibly damaging |
Het |
| Amer2 |
T |
A |
14: 60,617,026 (GRCm39) |
L281* |
probably null |
Het |
| Anxa6 |
T |
C |
11: 54,887,196 (GRCm39) |
N361D |
probably benign |
Het |
| Ap1g1 |
A |
T |
8: 110,564,415 (GRCm39) |
N320I |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,746 (GRCm39) |
D208G |
possibly damaging |
Het |
| Arnt2 |
T |
C |
7: 83,912,473 (GRCm39) |
T545A |
probably benign |
Het |
| Aspm |
G |
A |
1: 139,415,026 (GRCm39) |
V2701I |
probably benign |
Het |
| Atad2 |
A |
G |
15: 57,980,194 (GRCm39) |
V106A |
possibly damaging |
Het |
| Bbs2 |
A |
C |
8: 94,814,061 (GRCm39) |
F186V |
probably damaging |
Het |
| Catsperg2 |
G |
A |
7: 29,400,613 (GRCm39) |
P247L |
probably damaging |
Het |
| Cfap57 |
G |
T |
4: 118,426,656 (GRCm39) |
Q1098K |
probably benign |
Het |
| Cxcr6 |
A |
G |
9: 123,639,811 (GRCm39) |
T271A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,374,091 (GRCm39) |
E579G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,421,932 (GRCm39) |
T2111A |
probably damaging |
Het |
| Galnt1 |
A |
T |
18: 24,397,586 (GRCm39) |
D229V |
possibly damaging |
Het |
| Gbp2b |
A |
C |
3: 142,313,919 (GRCm39) |
M400L |
probably benign |
Het |
| Gm1123 |
T |
A |
9: 98,891,486 (GRCm39) |
|
probably null |
Het |
| Gtpbp6 |
T |
C |
5: 110,252,805 (GRCm39) |
H349R |
probably damaging |
Het |
| Hyal5 |
A |
G |
6: 24,876,691 (GRCm39) |
K188R |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,707,803 (GRCm39) |
|
probably null |
Het |
| Kcnn1 |
A |
T |
8: 71,305,374 (GRCm39) |
C322S |
probably damaging |
Het |
| Kdelr1 |
GTCTA |
G |
7: 45,531,041 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,687,504 (GRCm39) |
R2198* |
probably null |
Het |
| Mcl1 |
T |
G |
3: 95,567,109 (GRCm39) |
D177E |
possibly damaging |
Het |
| Mrps11 |
A |
T |
7: 78,441,628 (GRCm39) |
T137S |
probably benign |
Het |
| Mtbp |
A |
G |
15: 55,426,168 (GRCm39) |
Y90C |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nxt1 |
G |
T |
2: 148,517,673 (GRCm39) |
W138L |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,139 (GRCm39) |
T192A |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,709 (GRCm39) |
F220L |
probably benign |
Het |
| Or5t17 |
T |
A |
2: 86,832,621 (GRCm39) |
S103T |
probably benign |
Het |
| Osbpl7 |
C |
A |
11: 96,951,103 (GRCm39) |
P478H |
probably damaging |
Het |
| Phf8-ps |
T |
A |
17: 33,285,746 (GRCm39) |
H352L |
probably benign |
Het |
| Pitpna |
T |
A |
11: 75,511,095 (GRCm39) |
F222I |
probably damaging |
Het |
| Plekhh2 |
A |
T |
17: 84,877,310 (GRCm39) |
R552W |
probably damaging |
Het |
| Plxnb2 |
C |
T |
15: 89,051,235 (GRCm39) |
R328H |
probably damaging |
Het |
| Pmaip1 |
C |
T |
18: 66,594,055 (GRCm39) |
T65I |
probably benign |
Het |
| Ppil4 |
T |
G |
10: 7,674,186 (GRCm39) |
I110S |
probably damaging |
Het |
| Prpf38a |
A |
G |
4: 108,427,351 (GRCm39) |
|
probably null |
Het |
| Psme4 |
G |
A |
11: 30,759,837 (GRCm39) |
G320D |
probably damaging |
Het |
| Rab17 |
C |
A |
1: 90,886,679 (GRCm39) |
R191L |
probably benign |
Het |
| Rhag |
A |
T |
17: 41,142,222 (GRCm39) |
M222L |
possibly damaging |
Het |
| Rims2 |
A |
T |
15: 39,300,602 (GRCm39) |
H111L |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,061,292 (GRCm39) |
Y2234H |
probably damaging |
Het |
| Slc2a8 |
T |
C |
2: 32,871,801 (GRCm39) |
I51V |
possibly damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,549,085 (GRCm39) |
|
probably null |
Het |
| Slf1 |
T |
C |
13: 77,231,598 (GRCm39) |
T594A |
possibly damaging |
Het |
| Sox6 |
A |
T |
7: 115,178,392 (GRCm39) |
|
probably null |
Het |
| Spata13 |
C |
T |
14: 60,928,652 (GRCm39) |
S70L |
probably benign |
Het |
| Stard13 |
A |
G |
5: 150,986,592 (GRCm39) |
I188T |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,535,803 (GRCm39) |
D4020G |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,868,611 (GRCm39) |
K255R |
possibly damaging |
Het |
| Tns2 |
G |
T |
15: 102,015,538 (GRCm39) |
A124S |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,413,666 (GRCm38) |
W1045R |
probably damaging |
Het |
| Trav12-2 |
T |
C |
14: 53,854,122 (GRCm39) |
V32A |
probably damaging |
Het |
| Vps13c |
G |
T |
9: 67,870,455 (GRCm39) |
R3198L |
possibly damaging |
Het |
| Wee1 |
TCCCC |
TCCC |
7: 109,723,776 (GRCm39) |
|
probably null |
Het |
| Zfp52 |
T |
A |
17: 21,782,013 (GRCm39) |
S620R |
probably benign |
Het |
| Zfp62 |
T |
A |
11: 49,107,044 (GRCm39) |
C378* |
probably null |
Het |
| Zfp638 |
C |
A |
6: 83,906,969 (GRCm39) |
P378H |
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 |
|
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'- CAGTGCATCGGTTTAACTGCG -3'
(R):5'- CAAAAGTTCCACTGAGTACTAATGG -3'
Sequencing Primer
(F):5'- GCATCGGTTTAACTGCGTGCTC -3'
(R):5'- CATATACCACATTTCTCGAGTACAG -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation