Incidental Mutation 'R2964:Kif3a'
| ID |
255982 |
| 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 |
040520-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53458206-53492794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53469757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 123
(I123F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133432
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057330]
[ENSMUST00000118353]
[ENSMUST00000120613]
[ENSMUST00000132496]
[ENSMUST00000173744]
|
| AlphaFold |
P28741 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057330
AA Change: I123F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056197
Gene: ENSMUSG00000018395
AA Change: I123F
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
12 |
353 |
9.79e-187 |
SMART |
|
coiled coil region
|
416 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118353
AA Change: I123F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113848
Gene: ENSMUSG00000018395
AA Change: I123F
| 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 damaging
Transcript: ENSMUST00000120613
AA Change: I123F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112782
Gene: ENSMUSG00000018395
AA Change: I123F
| 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 damaging
Transcript: ENSMUST00000132496
AA Change: I122F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115161
Gene: ENSMUSG00000018395
AA Change: I122F
| 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 |
probably damaging
Transcript: ENSMUST00000173744
AA Change: I123F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133432
Gene: ENSMUSG00000018395
AA Change: I123F
| 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 |
|
| Meta Mutation Damage Score |
0.9359 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
T |
7: 41,275,829 (GRCm39) |
R511* |
probably null |
Het |
| Acox3 |
T |
C |
5: 35,762,611 (GRCm39) |
I495T |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,672,011 (GRCm39) |
S302G |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,066,357 (GRCm39) |
D148G |
probably damaging |
Het |
| Asprv1 |
T |
A |
6: 86,605,348 (GRCm39) |
C65S |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,628,018 (GRCm39) |
S39P |
unknown |
Het |
| Chrna2 |
T |
C |
14: 66,386,817 (GRCm39) |
V321A |
possibly damaging |
Het |
| Chsy1 |
G |
A |
7: 65,821,912 (GRCm39) |
G716R |
probably damaging |
Het |
| Col13a1 |
G |
A |
10: 61,797,110 (GRCm39) |
R106W |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,154 (GRCm39) |
V2355A |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,565,679 (GRCm39) |
|
probably benign |
Het |
| Dbi |
C |
T |
1: 120,047,846 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,607,460 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fbxw21 |
A |
G |
9: 108,974,578 (GRCm39) |
I314T |
probably benign |
Het |
| Fstl3 |
T |
C |
10: 79,617,057 (GRCm39) |
V200A |
probably benign |
Het |
| Gpr45 |
G |
A |
1: 43,071,668 (GRCm39) |
D104N |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,548,085 (GRCm39) |
S184P |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,386,538 (GRCm39) |
|
probably null |
Het |
| H2-T22 |
A |
G |
17: 36,351,537 (GRCm39) |
L231S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,155,426 (GRCm39) |
C322R |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,611,641 (GRCm39) |
S26R |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,444,489 (GRCm39) |
E1127G |
probably damaging |
Het |
| Ltf |
G |
T |
9: 110,857,540 (GRCm39) |
C443F |
possibly damaging |
Het |
| Mdc1 |
A |
T |
17: 36,164,529 (GRCm39) |
Q1359L |
possibly damaging |
Het |
| Mdga1 |
A |
T |
17: 30,071,442 (GRCm39) |
I393N |
probably damaging |
Het |
| Mnd1 |
C |
A |
3: 84,041,416 (GRCm39) |
C62F |
probably benign |
Het |
| Myo3a |
T |
C |
2: 22,345,067 (GRCm39) |
V509A |
possibly damaging |
Het |
| Nav2 |
C |
T |
7: 49,206,780 (GRCm39) |
T1535I |
probably damaging |
Het |
| Nlrp4d |
G |
T |
7: 10,112,256 (GRCm39) |
S626* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,215,358 (GRCm39) |
I732K |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,738,914 (GRCm39) |
S14P |
probably damaging |
Het |
| Or1j12 |
T |
C |
2: 36,342,779 (GRCm39) |
F61L |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,419 (GRCm39) |
R236C |
probably benign |
Het |
| Or5b101 |
C |
T |
19: 13,005,412 (GRCm39) |
A94T |
probably benign |
Het |
| Pigr |
G |
A |
1: 130,769,272 (GRCm39) |
V28M |
probably damaging |
Het |
| Pnpla2 |
C |
T |
7: 141,038,391 (GRCm39) |
L215F |
probably damaging |
Het |
| Pth |
T |
C |
7: 112,985,136 (GRCm39) |
H79R |
probably benign |
Het |
| Rasal1 |
T |
A |
5: 120,809,685 (GRCm39) |
L530Q |
probably damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,937 (GRCm39) |
K616M |
possibly damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,651 (GRCm39) |
T997I |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Trav7d-4 |
C |
T |
14: 53,007,584 (GRCm39) |
Q26* |
probably null |
Het |
| Zcchc8 |
A |
G |
5: 123,858,930 (GRCm39) |
S22P |
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 |
|
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 |
|
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'- ACATGTTGGTACTAAAGGCCAAAC -3'
(R):5'- CCTGTAAGGACAATGGTGGAAC -3'
Sequencing Primer
(F):5'- AGAGTCTTACTATGTAGCCCAGGC -3'
(R):5'- TGGAACACTCAATGTCTGAAAAGTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation