Incidental Mutation 'R5158:Kif3a'
| ID |
396842 |
| 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 |
042740-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5158 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
53458206-53492794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53479578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 430
(F430L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057330]
[ENSMUST00000118353]
[ENSMUST00000120613]
[ENSMUST00000173744]
|
| AlphaFold |
P28741 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057330
|
| SMART Domains |
Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
9.79e-187 |
SMART |
|
coiled coil region
|
416 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118353
AA Change: F430L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: F430L
| 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 |
probably benign
Transcript: ENSMUST00000120613
|
| SMART Domains |
Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
| 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 |
probably benign
Transcript: ENSMUST00000132653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173744
|
| SMART Domains |
Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
| 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: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
| Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
| Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
| Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
| Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
| Ctdspl2 |
T |
A |
2: 121,811,774 (GRCm39) |
V205E |
probably benign |
Het |
| Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
| Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
| Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
| Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
| Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
| Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
| Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
| Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
| Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
| Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
| Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
| Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
| Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
| Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
| Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
| Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
| Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
| Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
| Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly damaging |
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 |
|
R4553:Kif3a
|
UTSW |
11 |
53,469,745 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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'- AGTCGCGCTTGAATGCAAAG -3'
(R):5'- TCTCCCACTGTCTCAAACATAGG -3'
Sequencing Primer
(F):5'- CGCTTGAATGCAAAGCTTCAGTG -3'
(R):5'- ACTGTCTCAAACATAGGCTCTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation