Incidental Mutation 'R4553:Kif3a'
| ID |
341786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif3a
|
| Ensembl Gene |
ENSMUSG00000018395 |
| Gene Name |
kinesin family member 3A |
| Synonyms |
kinesin-II subunit, N-4 kinesin, Kif3, Kifl, Kns3 |
| MMRRC Submission |
041595-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53458206-53492794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53469745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 119
(L119I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057330]
[ENSMUST00000118353]
[ENSMUST00000120613]
[ENSMUST00000132496]
[ENSMUST00000173744]
|
| AlphaFold |
P28741 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057330
AA Change: L119I
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: L119I
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
9.79e-187 |
SMART |
|
coiled coil region
|
416 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118353
AA Change: L119I
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: L119I
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
9.79e-187 |
SMART |
|
low complexity region
|
365 |
418 |
N/A |
INTRINSIC |
|
coiled coil region
|
443 |
620 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120613
AA Change: L119I
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: L119I
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
4.6e-189 |
SMART |
|
coiled coil region
|
354 |
383 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000132496
AA Change: L118I
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000115161
Gene: ENSMUSG00000018395
AA Change: L118I
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
11 |
178 |
4.96e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140359
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173744
AA Change: L119I
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: L119I
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
9.79e-187 |
SMART |
|
low complexity region
|
365 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
526 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Nullizygous mutations result in embryonic lethality, failure to synthesize cilia in the embryonic node, randomization of left-right asymmetry and structural abnormalities of the neural tube, pericardium, branchial arches, and somites. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
| Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
| Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
| Crat |
T |
C |
2: 30,298,229 (GRCm39) |
T157A |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,345,407 (GRCm39) |
P230L |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
| Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
| Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,353,205 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
| Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
| Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
probably benign |
Het |
|
| Other mutations in Kif3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01365:Kif3a
|
APN |
11 |
53,484,350 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01862:Kif3a
|
APN |
11 |
53,461,368 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02411:Kif3a
|
APN |
11 |
53,461,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Kif3a
|
UTSW |
11 |
53,469,941 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0049:Kif3a
|
UTSW |
11 |
53,481,560 (GRCm39) |
splice site |
probably benign |
|
|
R0049:Kif3a
|
UTSW |
11 |
53,481,560 (GRCm39) |
splice site |
probably benign |
|
|
R0078:Kif3a
|
UTSW |
11 |
53,469,812 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0131:Kif3a
|
UTSW |
11 |
53,477,743 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1079:Kif3a
|
UTSW |
11 |
53,461,408 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1168:Kif3a
|
UTSW |
11 |
53,489,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Kif3a
|
UTSW |
11 |
53,489,154 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1817:Kif3a
|
UTSW |
11 |
53,489,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Kif3a
|
UTSW |
11 |
53,461,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2964:Kif3a
|
UTSW |
11 |
53,469,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Kif3a
|
UTSW |
11 |
53,488,805 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3928:Kif3a
|
UTSW |
11 |
53,461,441 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5158:Kif3a
|
UTSW |
11 |
53,479,578 (GRCm39) |
missense |
probably benign |
|
|
R5437:Kif3a
|
UTSW |
11 |
53,489,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6621:Kif3a
|
UTSW |
11 |
53,469,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Kif3a
|
UTSW |
11 |
53,477,733 (GRCm39) |
nonsense |
probably null |
|
|
R7384:Kif3a
|
UTSW |
11 |
53,469,681 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8182:Kif3a
|
UTSW |
11 |
53,485,133 (GRCm39) |
nonsense |
probably null |
|
|
R8493:Kif3a
|
UTSW |
11 |
53,489,627 (GRCm39) |
nonsense |
probably null |
|
|
R8971:Kif3a
|
UTSW |
11 |
53,474,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Kif3a
|
UTSW |
11 |
53,484,248 (GRCm39) |
small deletion |
probably benign |
|
|
R9577:Kif3a
|
UTSW |
11 |
53,475,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACATGTTGGTACTAAAGGCCAAAC -3'
(R):5'- CCTGTAAGGACAATGGTGGAAC -3'
Sequencing Primer
(F):5'- AGAGTCTTACTATGTAGCCCAGGC -3'
(R):5'- TGGAACACTCAATGTCTGAAAAGTG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation