Incidental Mutation 'R5869:Kif20a'
ID |
454360 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif20a
|
Ensembl Gene |
ENSMUSG00000003779 |
Gene Name |
kinesin family member 20A |
Synonyms |
Rabkinesin-6, Rab6kifl |
MMRRC Submission |
044077-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5869 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34757677-34766330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 34765468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 822
(A822T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025228]
[ENSMUST00000133181]
[ENSMUST00000166044]
[ENSMUST00000167161]
|
AlphaFold |
P97329 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025228
|
SMART Domains |
Protein: ENSMUSP00000025228 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
Pfam:APC8
|
22 |
152 |
1.9e-42 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133162
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133181
|
SMART Domains |
Protein: ENSMUSP00000122420 Gene: ENSMUSG00000024370
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
24 |
N/A |
INTRINSIC |
Pfam:ANAPC8
|
28 |
151 |
6.9e-31 |
PFAM |
Blast:TPR
|
175 |
202 |
4e-10 |
BLAST |
TPR
|
263 |
296 |
4.21e1 |
SMART |
TPR
|
331 |
364 |
1.74e-4 |
SMART |
TPR
|
365 |
398 |
1.83e-3 |
SMART |
TPR
|
399 |
432 |
1.37e-2 |
SMART |
TPR
|
433 |
466 |
8.97e0 |
SMART |
TPR
|
510 |
543 |
1.82e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136949
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138400
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155307
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166044
AA Change: A822T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000132659 Gene: ENSMUSG00000003779 AA Change: A822T
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167161
AA Change: A822T
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000130045 Gene: ENSMUSG00000003779 AA Change: A822T
Domain | Start | End | E-Value | Type |
KISc
|
61 |
514 |
3.95e-141 |
SMART |
coiled coil region
|
559 |
760 |
N/A |
INTRINSIC |
low complexity region
|
831 |
842 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
Validation Efficiency |
93% (68/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
T |
C |
10: 77,161,450 (GRCm39) |
|
probably benign |
Het |
Arsk |
T |
C |
13: 76,239,903 (GRCm39) |
E100G |
probably benign |
Het |
Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
Aspscr1 |
T |
C |
11: 120,579,746 (GRCm39) |
I31T |
possibly damaging |
Het |
Asz1 |
T |
C |
6: 18,074,939 (GRCm39) |
|
probably benign |
Het |
Calm5 |
T |
A |
13: 3,904,321 (GRCm39) |
|
probably benign |
Het |
Car5a |
G |
A |
8: 122,643,119 (GRCm39) |
T295I |
probably benign |
Het |
Ccdc174 |
T |
A |
6: 91,862,399 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,321,225 (GRCm39) |
A529V |
probably damaging |
Het |
Cep192 |
A |
G |
18: 67,948,935 (GRCm39) |
D252G |
probably benign |
Het |
Clcnka |
A |
G |
4: 141,122,276 (GRCm39) |
F217L |
probably benign |
Het |
Cnot3 |
A |
T |
7: 3,647,929 (GRCm39) |
|
probably benign |
Het |
Coro1c |
A |
G |
5: 113,988,907 (GRCm39) |
|
probably benign |
Het |
Cstf3 |
A |
G |
2: 104,489,585 (GRCm39) |
|
probably null |
Het |
Dcdc2a |
C |
T |
13: 25,291,713 (GRCm39) |
P233S |
probably benign |
Het |
Ddx55 |
A |
G |
5: 124,706,745 (GRCm39) |
T581A |
probably benign |
Het |
Exo1 |
T |
C |
1: 175,728,849 (GRCm39) |
S638P |
possibly damaging |
Het |
Fam135a |
T |
C |
1: 24,068,511 (GRCm39) |
E616G |
possibly damaging |
Het |
Fignl2 |
T |
C |
15: 100,951,161 (GRCm39) |
S374G |
unknown |
Het |
Gm4799 |
A |
T |
10: 82,790,283 (GRCm39) |
|
noncoding transcript |
Het |
Hectd4 |
T |
C |
5: 121,481,288 (GRCm39) |
|
probably null |
Het |
Ighv1-76 |
T |
C |
12: 115,811,658 (GRCm39) |
E65G |
probably damaging |
Het |
Igsf9b |
C |
A |
9: 27,234,531 (GRCm39) |
H465Q |
probably benign |
Het |
Itga9 |
A |
G |
9: 118,492,957 (GRCm39) |
D284G |
probably damaging |
Het |
Itpr1 |
T |
C |
6: 108,450,490 (GRCm39) |
S1940P |
probably benign |
Het |
Kcnb1 |
A |
G |
2: 167,029,991 (GRCm39) |
S185P |
probably benign |
Het |
Krt1 |
A |
T |
15: 101,758,566 (GRCm39) |
F199L |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,539,271 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
C |
2: 40,894,615 (GRCm39) |
D2204E |
probably damaging |
Het |
Mier3 |
T |
A |
13: 111,851,384 (GRCm39) |
N427K |
probably damaging |
Het |
Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
Mroh3 |
T |
A |
1: 136,113,861 (GRCm39) |
M643L |
probably benign |
Het |
Myh11 |
A |
G |
16: 14,048,664 (GRCm39) |
S548P |
probably damaging |
Het |
Nat8f6 |
A |
C |
6: 85,785,505 (GRCm39) |
L215V |
possibly damaging |
Het |
Nlrp3 |
G |
A |
11: 59,438,960 (GRCm39) |
R179Q |
probably damaging |
Het |
Nup88 |
T |
C |
11: 70,860,497 (GRCm39) |
E94G |
probably benign |
Het |
Pias1 |
A |
T |
9: 62,820,048 (GRCm39) |
D306E |
probably benign |
Het |
Pick1 |
A |
G |
15: 79,133,095 (GRCm39) |
D385G |
probably benign |
Het |
Pitx3 |
A |
T |
19: 46,125,735 (GRCm39) |
|
probably benign |
Het |
Plpp3 |
T |
A |
4: 105,052,159 (GRCm39) |
|
probably null |
Het |
Prlhr |
C |
A |
19: 60,456,059 (GRCm39) |
R169L |
probably damaging |
Het |
Ptprf |
A |
C |
4: 118,067,579 (GRCm39) |
M1872R |
probably damaging |
Het |
Ptprh |
T |
C |
7: 4,604,939 (GRCm39) |
D35G |
probably benign |
Het |
Rnf130 |
A |
G |
11: 49,976,642 (GRCm39) |
|
probably null |
Het |
Rnf17 |
A |
C |
14: 56,743,445 (GRCm39) |
E1337A |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,708 (GRCm39) |
Y734H |
probably damaging |
Het |
Slc25a10 |
C |
T |
11: 120,388,943 (GRCm39) |
T269I |
probably damaging |
Het |
Slc4a11 |
A |
C |
2: 130,526,379 (GRCm39) |
V855G |
probably benign |
Het |
Slc5a5 |
C |
A |
8: 71,344,974 (GRCm39) |
R111L |
probably damaging |
Het |
Spart |
A |
T |
3: 55,042,931 (GRCm39) |
M616L |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,954,686 (GRCm39) |
D356G |
probably damaging |
Het |
Tmem30c |
A |
G |
16: 57,086,925 (GRCm39) |
S293P |
probably damaging |
Het |
Tnfrsf14 |
C |
A |
4: 155,011,055 (GRCm39) |
|
probably null |
Het |
Tnfrsf19 |
C |
T |
14: 61,208,627 (GRCm39) |
R298H |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,787,858 (GRCm39) |
K809E |
probably benign |
Het |
Ttn |
G |
A |
2: 76,580,553 (GRCm39) |
P23447S |
probably damaging |
Het |
Uap1 |
T |
A |
1: 169,978,707 (GRCm39) |
|
probably null |
Het |
Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
Zfp523 |
T |
C |
17: 28,413,967 (GRCm39) |
I34T |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,069 (GRCm39) |
H99Q |
probably damaging |
Het |
|
Other mutations in Kif20a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02448:Kif20a
|
APN |
18 |
34,761,507 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02654:Kif20a
|
APN |
18 |
34,765,076 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02739:Kif20a
|
APN |
18 |
34,761,996 (GRCm39) |
nonsense |
probably null |
|
R0600:Kif20a
|
UTSW |
18 |
34,762,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R0748:Kif20a
|
UTSW |
18 |
34,761,241 (GRCm39) |
splice site |
probably benign |
|
R0856:Kif20a
|
UTSW |
18 |
34,764,271 (GRCm39) |
missense |
probably benign |
|
R1278:Kif20a
|
UTSW |
18 |
34,759,830 (GRCm39) |
missense |
probably benign |
0.00 |
R1752:Kif20a
|
UTSW |
18 |
34,764,634 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2036:Kif20a
|
UTSW |
18 |
34,761,515 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2143:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
R2144:Kif20a
|
UTSW |
18 |
34,758,657 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4231:Kif20a
|
UTSW |
18 |
34,765,091 (GRCm39) |
missense |
probably benign |
|
R4372:Kif20a
|
UTSW |
18 |
34,762,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R4426:Kif20a
|
UTSW |
18 |
34,764,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4584:Kif20a
|
UTSW |
18 |
34,765,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5524:Kif20a
|
UTSW |
18 |
34,763,678 (GRCm39) |
critical splice donor site |
probably null |
|
R5867:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5949:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5958:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5959:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R5967:Kif20a
|
UTSW |
18 |
34,763,580 (GRCm39) |
missense |
probably benign |
0.10 |
R5969:Kif20a
|
UTSW |
18 |
34,765,468 (GRCm39) |
missense |
probably benign |
0.01 |
R6175:Kif20a
|
UTSW |
18 |
34,761,199 (GRCm39) |
missense |
probably damaging |
0.98 |
R6490:Kif20a
|
UTSW |
18 |
34,762,543 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6694:Kif20a
|
UTSW |
18 |
34,758,579 (GRCm39) |
missense |
probably damaging |
0.98 |
R6866:Kif20a
|
UTSW |
18 |
34,761,546 (GRCm39) |
missense |
probably benign |
0.10 |
R7129:Kif20a
|
UTSW |
18 |
34,765,588 (GRCm39) |
missense |
probably benign |
0.00 |
R7217:Kif20a
|
UTSW |
18 |
34,762,613 (GRCm39) |
missense |
probably benign |
0.14 |
R7397:Kif20a
|
UTSW |
18 |
34,760,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R7585:Kif20a
|
UTSW |
18 |
34,758,591 (GRCm39) |
missense |
probably benign |
0.03 |
R8302:Kif20a
|
UTSW |
18 |
34,765,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8306:Kif20a
|
UTSW |
18 |
34,761,444 (GRCm39) |
missense |
probably benign |
0.00 |
R8325:Kif20a
|
UTSW |
18 |
34,759,975 (GRCm39) |
missense |
possibly damaging |
0.68 |
R8697:Kif20a
|
UTSW |
18 |
34,761,584 (GRCm39) |
missense |
probably benign |
0.19 |
R9022:Kif20a
|
UTSW |
18 |
34,760,898 (GRCm39) |
missense |
probably benign |
0.00 |
R9331:Kif20a
|
UTSW |
18 |
34,762,562 (GRCm39) |
nonsense |
probably null |
|
R9345:Kif20a
|
UTSW |
18 |
34,759,779 (GRCm39) |
missense |
probably benign |
0.00 |
R9716:Kif20a
|
UTSW |
18 |
34,762,228 (GRCm39) |
missense |
possibly damaging |
0.66 |
X0027:Kif20a
|
UTSW |
18 |
34,758,583 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCATTGCTAATGGTACCTGATCTC -3'
(R):5'- GGGCAACAACCATGCATCTTC -3'
Sequencing Primer
(F):5'- GCTAATGGTACCTGATCTCTTAAATG -3'
(R):5'- TTTTGCCAAAGGGAGATTTGAG -3'
|
Posted On |
2017-02-10 |