Incidental Mutation 'R9137:Kif23'
| ID |
694089 |
| 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 |
068932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.972)
|
| Stock # |
R9137 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
61824559-61854078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 61834713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 397
(F397I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034815]
[ENSMUST00000214295]
|
| AlphaFold |
E9Q5G3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034815
AA Change: F397I
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000034815
Gene: ENSMUSG00000032254
AA Change: F397I
| 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 damaging
Transcript: ENSMUST00000214295
AA Change: F411I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
G |
16: 4,685,312 (GRCm39) |
K299R |
probably benign |
Het |
| Abca12 |
T |
G |
1: 71,298,525 (GRCm39) |
I2366L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,688,133 (GRCm39) |
V1749A |
probably damaging |
Het |
| Ano9 |
C |
T |
7: 140,684,028 (GRCm39) |
V546M |
probably damaging |
Het |
| Atad5 |
A |
T |
11: 79,986,481 (GRCm39) |
S523C |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,996,744 (GRCm39) |
D115V |
possibly damaging |
Het |
| Ccdc18 |
T |
G |
5: 108,296,856 (GRCm39) |
C220G |
probably damaging |
Het |
| Cfap61 |
A |
C |
2: 146,042,685 (GRCm39) |
K1153Q |
probably benign |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,601,203 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,172 (GRCm39) |
K144R |
unknown |
Het |
| Cr2 |
A |
G |
1: 194,850,640 (GRCm39) |
|
probably null |
Het |
| Cyp3a16 |
A |
C |
5: 145,406,413 (GRCm39) |
V13G |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,109 (GRCm39) |
N72D |
unknown |
Het |
| Enah |
A |
G |
1: 181,739,160 (GRCm39) |
|
probably null |
Het |
| Fezf1 |
T |
A |
6: 23,246,511 (GRCm39) |
|
probably benign |
Het |
| Gabrr2 |
T |
A |
4: 33,095,571 (GRCm39) |
S487T |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,315,894 (GRCm39) |
T275M |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,496,238 (GRCm39) |
K3877E |
possibly damaging |
Het |
| Hhla1 |
G |
T |
15: 65,795,761 (GRCm39) |
Q482K |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,004,712 (GRCm39) |
T437A |
probably benign |
Het |
| Iars1 |
C |
T |
13: 49,855,350 (GRCm39) |
T259M |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,540,291 (GRCm39) |
E264G |
probably benign |
Het |
| Katnb1 |
G |
A |
8: 95,824,320 (GRCm39) |
M501I |
possibly damaging |
Het |
| Kcna10 |
G |
A |
3: 107,102,497 (GRCm39) |
G376E |
probably damaging |
Het |
| Klf14 |
A |
T |
6: 30,934,855 (GRCm39) |
C260S |
probably damaging |
Het |
| Lgi2 |
T |
A |
5: 52,695,361 (GRCm39) |
S533C |
probably damaging |
Het |
| Marveld1 |
A |
G |
19: 42,136,440 (GRCm39) |
D118G |
probably benign |
Het |
| Msln |
C |
T |
17: 25,969,084 (GRCm39) |
A434T |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,502 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
T |
3: 87,878,651 (GRCm39) |
G48W |
probably damaging |
Het |
| Or5k3 |
T |
A |
16: 58,969,635 (GRCm39) |
C141S |
probably benign |
Het |
| Osmr |
T |
A |
15: 6,856,709 (GRCm39) |
E479D |
probably benign |
Het |
| Otop3 |
A |
G |
11: 115,235,868 (GRCm39) |
H500R |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Phldb3 |
C |
T |
7: 24,310,723 (GRCm39) |
|
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,021,794 (GRCm39) |
I369F |
possibly damaging |
Het |
| Rarres1 |
T |
A |
3: 67,422,801 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
G |
11: 106,214,736 (GRCm39) |
V1287A |
probably damaging |
Het |
| Sertad2 |
A |
T |
11: 20,598,425 (GRCm39) |
E207V |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,072,647 (GRCm39) |
C498* |
probably null |
Het |
| Smtn |
T |
G |
11: 3,472,838 (GRCm39) |
K278T |
possibly damaging |
Het |
| Sp140 |
T |
C |
1: 85,570,297 (GRCm39) |
S405P |
probably damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,724,715 (GRCm39) |
I155N |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,433 (GRCm39) |
V77A |
probably benign |
Het |
| St8sia2 |
T |
G |
7: 73,610,654 (GRCm39) |
I210L |
probably benign |
Het |
| Stkld1 |
T |
C |
2: 26,840,572 (GRCm39) |
I418T |
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,695,990 (GRCm39) |
F88L |
probably damaging |
Het |
| Trim66 |
C |
T |
7: 109,074,330 (GRCm39) |
V644M |
probably damaging |
Het |
| Ttc41 |
T |
C |
10: 86,612,486 (GRCm39) |
I1253T |
probably benign |
Het |
| Vmn2r86 |
T |
C |
10: 130,282,409 (GRCm39) |
N736D |
probably damaging |
Het |
| Zfat |
T |
A |
15: 68,051,794 (GRCm39) |
T667S |
probably benign |
Het |
| Zfp874a |
T |
C |
13: 67,590,841 (GRCm39) |
E281G |
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 |
|
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'- ACCTATCCTTCTTTATGGAGGGC -3'
(R):5'- ACATGCATGGAGGTCCTGAG -3'
Sequencing Primer
(F):5'- ATGGAGGGCTAAATAGTTCATCTGC -3'
(R):5'- TCCTGAGAGAGAACCAGACGTATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation