Incidental Mutation 'R5969:Kif20a'
| ID |
470774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif20a
|
| Ensembl Gene |
ENSMUSG00000003779 |
| Gene Name |
kinesin family member 20A |
| Synonyms |
Rabkinesin-6, Rab6kifl |
| MMRRC Submission |
044152-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5969 (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: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
C |
15: 102,258,999 (GRCm39) |
Y19D |
probably damaging |
Het |
| Abca13 |
T |
A |
11: 9,242,214 (GRCm39) |
L1359* |
probably null |
Het |
| Ahi1 |
A |
T |
10: 20,860,292 (GRCm39) |
D671V |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,993,949 (GRCm39) |
S5078P |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,733,887 (GRCm39) |
T584S |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,394,195 (GRCm39) |
L568* |
probably null |
Het |
| Cenpn |
C |
A |
8: 117,667,276 (GRCm39) |
L300I |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,052 (GRCm39) |
L3012Q |
possibly damaging |
Het |
| Cnnm1 |
T |
C |
19: 43,479,911 (GRCm39) |
S819P |
probably damaging |
Het |
| Cpa6 |
A |
T |
1: 10,559,108 (GRCm39) |
S87T |
probably benign |
Het |
| Crybg2 |
T |
A |
4: 133,803,003 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
T |
A |
8: 16,121,367 (GRCm39) |
T1777S |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,811,386 (GRCm39) |
P1235Q |
probably damaging |
Het |
| Cxcr4 |
T |
A |
1: 128,517,584 (GRCm39) |
N24Y |
probably benign |
Het |
| D630003M21Rik |
G |
T |
2: 158,059,628 (GRCm39) |
H91N |
probably damaging |
Het |
| Ece1 |
T |
C |
4: 137,689,051 (GRCm39) |
|
probably null |
Het |
| Edc3 |
T |
C |
9: 57,620,711 (GRCm39) |
S11P |
probably damaging |
Het |
| Eif1ad14 |
T |
C |
12: 87,886,248 (GRCm39) |
D127G |
unknown |
Het |
| Exoc3 |
G |
A |
13: 74,320,305 (GRCm39) |
Q719* |
probably null |
Het |
| Fam13a |
A |
G |
6: 58,942,183 (GRCm39) |
M203T |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
C |
T |
19: 57,372,555 (GRCm39) |
R602* |
probably null |
Het |
| Fxyd2 |
T |
A |
9: 45,319,628 (GRCm39) |
I30N |
probably damaging |
Het |
| Gapt |
A |
G |
13: 110,490,480 (GRCm39) |
V61A |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,942 (GRCm39) |
V2A |
probably damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,244,848 (GRCm39) |
S1729P |
possibly damaging |
Het |
| Heatr5a |
T |
C |
12: 52,005,823 (GRCm39) |
T51A |
probably benign |
Het |
| Kat6b |
G |
A |
14: 21,720,860 (GRCm39) |
M1737I |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,434,409 (GRCm39) |
Y267C |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,372,086 (GRCm39) |
Y98C |
probably damaging |
Het |
| Lyst |
A |
C |
13: 13,862,398 (GRCm39) |
|
probably null |
Het |
| Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
| Mfng |
A |
T |
15: 78,648,582 (GRCm39) |
V165D |
possibly damaging |
Het |
| Mto1 |
A |
G |
9: 78,360,187 (GRCm39) |
E225G |
probably damaging |
Het |
| Notch3 |
C |
A |
17: 32,372,858 (GRCm39) |
C571F |
probably damaging |
Het |
| Nup205 |
C |
T |
6: 35,154,513 (GRCm39) |
|
probably benign |
Het |
| Or51b6 |
T |
A |
7: 103,556,117 (GRCm39) |
I157N |
probably damaging |
Het |
| P2ry14 |
T |
A |
3: 59,022,579 (GRCm39) |
I303F |
probably damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,735,563 (GRCm39) |
D421G |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,954,482 (GRCm39) |
H75R |
possibly damaging |
Het |
| Phf21a |
A |
T |
2: 92,051,956 (GRCm39) |
H17L |
probably damaging |
Het |
| Ppid |
T |
A |
3: 79,505,024 (GRCm39) |
N122K |
probably damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,009,838 (GRCm39) |
I613V |
probably benign |
Het |
| Prcp |
C |
T |
7: 92,566,974 (GRCm39) |
P229S |
probably benign |
Het |
| Ralgds |
T |
C |
2: 28,432,426 (GRCm39) |
V85A |
probably damaging |
Het |
| Rgs22 |
G |
A |
15: 36,015,782 (GRCm39) |
T1034I |
probably benign |
Het |
| Slc4a3 |
T |
C |
1: 75,526,623 (GRCm39) |
V48A |
probably damaging |
Het |
| Snx16 |
A |
T |
3: 10,503,217 (GRCm39) |
M10K |
possibly damaging |
Het |
| Svep1 |
G |
A |
4: 58,070,977 (GRCm39) |
Q2270* |
probably null |
Het |
| Tmem185b |
T |
G |
1: 119,455,193 (GRCm39) |
I318S |
probably benign |
Het |
| Tnik |
C |
T |
3: 28,675,097 (GRCm39) |
R657C |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,429 (GRCm39) |
|
probably null |
Het |
| Trim40 |
C |
T |
17: 37,193,319 (GRCm39) |
R203H |
probably benign |
Het |
| Triobp |
T |
A |
15: 78,851,740 (GRCm39) |
N631K |
probably benign |
Het |
| Ubr3 |
T |
G |
2: 69,809,730 (GRCm39) |
Y1233* |
probably null |
Het |
| Vgll3 |
A |
G |
16: 65,636,449 (GRCm39) |
D200G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,755,981 (GRCm39) |
E18K |
probably benign |
Het |
| Zfp141 |
C |
A |
7: 42,138,912 (GRCm39) |
R40L |
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 |
|
R5869: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 |
|
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'- TGGCATTTCTCATTGCTAATGG -3'
(R):5'- TTTTGCCAAAGGGAGATTTGAG -3'
Sequencing Primer
(F):5'- GCATTTCTCATTGCTAATGGTACCTG -3'
(R):5'- TTTGAGTAAAGGAGAGTGCCGTG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation