Incidental Mutation 'R6437:Kifap3'
| ID |
518797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifap3
|
| Ensembl Gene |
ENSMUSG00000026585 |
| Gene Name |
kinesin-associated protein 3 |
| Synonyms |
KAP3 |
| MMRRC Submission |
044575-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6437 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163607152-163744678 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 163685095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 483
(L483Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027877]
[ENSMUST00000077642]
|
| AlphaFold |
P70188 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027877
AA Change: L483Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000027877
Gene: ENSMUSG00000026585
AA Change: L483Q
| Domain | Start | End | E-Value | Type |
|---|
|
KAP
|
13 |
720 |
N/A |
SMART |
|
ARM
|
333 |
373 |
1.21e-3 |
SMART |
|
ARM
|
374 |
412 |
9.68e0 |
SMART |
|
ARM
|
578 |
620 |
1.28e-2 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077642
AA Change: L483Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076830
Gene: ENSMUSG00000026585
AA Change: L483Q
| Domain | Start | End | E-Value | Type |
|---|
|
KAP
|
13 |
720 |
N/A |
SMART |
|
ARM
|
333 |
373 |
1.21e-3 |
SMART |
|
ARM
|
374 |
412 |
9.68e0 |
SMART |
|
ARM
|
578 |
620 |
1.28e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is the non-motor subunit of kinesin-2 complex, and forms a heterotrimer with two members of the kinesin superfamily of proteins that together form a microtubule plus-end directed translocator that plays an important role in intracellular transport, mitosis, and cell-cell adhesion. This protein contains multiple armadillo repeats involved in protein binding, and may serve as an adaptor to regulate binding of cargo with the motor proteins. Conditional disruption of this gene in mouse neural precursor cells caused a tumor-like phenotype and defective organization of the neuroepithelium thought to be the result of altered N-cadherin subcellular localization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
PHENOTYPE: About 70% of homozygotes for a knock-out mutation die of heart failure shortly after birth due to massive cardiomyocyte apoptosis triggered by cardiovascular overload. Neonatal thymocytes and developing neuronal cells undergo apoptosis while cultured thymocytes are susceptible to apoptotic inducers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg2a |
T |
A |
3: 37,582,347 (GRCm39) |
V794E |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,261,235 (GRCm39) |
V514I |
probably damaging |
Het |
| Atg16l1 |
T |
C |
1: 87,718,370 (GRCm39) |
L545P |
probably damaging |
Het |
| Ces3b |
T |
A |
8: 105,819,238 (GRCm39) |
D431E |
probably damaging |
Het |
| Cracr2a |
A |
G |
6: 127,608,794 (GRCm39) |
D291G |
probably damaging |
Het |
| Csmd2 |
T |
G |
4: 127,881,893 (GRCm39) |
C11G |
probably benign |
Het |
| Cstdc3 |
A |
G |
16: 36,132,999 (GRCm39) |
E92G |
probably damaging |
Het |
| Dido1 |
A |
G |
2: 180,316,806 (GRCm39) |
I127T |
probably damaging |
Het |
| Dpp8 |
A |
T |
9: 64,981,860 (GRCm39) |
Y714F |
probably benign |
Het |
| Efcab5 |
G |
A |
11: 77,028,728 (GRCm39) |
A201V |
probably benign |
Het |
| Eif3h |
C |
T |
15: 51,662,660 (GRCm39) |
V129I |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fars2 |
G |
A |
13: 36,388,846 (GRCm39) |
V112I |
probably benign |
Het |
| Fbn2 |
T |
G |
18: 58,246,435 (GRCm39) |
D489A |
probably damaging |
Het |
| Frmd4b |
G |
T |
6: 97,273,228 (GRCm39) |
S675R |
probably damaging |
Het |
| Fsip2 |
C |
T |
2: 82,813,836 (GRCm39) |
S3385F |
possibly damaging |
Het |
| Gtpbp10 |
A |
G |
5: 5,607,406 (GRCm39) |
Y12H |
probably damaging |
Het |
| Kcng3 |
A |
G |
17: 83,938,558 (GRCm39) |
S164P |
probably damaging |
Het |
| Klk10 |
A |
G |
7: 43,432,241 (GRCm39) |
H58R |
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,907,754 (GRCm39) |
W452G |
probably damaging |
Het |
| Krt87 |
C |
T |
15: 101,336,273 (GRCm39) |
D127N |
possibly damaging |
Het |
| Ldaf1 |
A |
T |
7: 119,715,584 (GRCm39) |
|
probably null |
Het |
| Lipm |
A |
G |
19: 34,098,657 (GRCm39) |
Y377C |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,240,669 (GRCm39) |
R1453H |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,388 (GRCm39) |
F255L |
possibly damaging |
Het |
| Neb |
C |
T |
2: 52,147,569 (GRCm39) |
|
probably null |
Het |
| Nek5 |
T |
A |
8: 22,575,476 (GRCm39) |
D491V |
possibly damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,227 (GRCm39) |
S1445P |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,921,678 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
C |
T |
7: 139,980,434 (GRCm39) |
C175Y |
probably damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,568,557 (GRCm39) |
T391A |
probably benign |
Het |
| Pcdhb7 |
T |
C |
18: 37,475,743 (GRCm39) |
L293P |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,513,576 (GRCm39) |
T292S |
probably benign |
Het |
| Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,525,768 (GRCm39) |
Q986R |
possibly damaging |
Het |
| Rrp9 |
G |
T |
9: 106,360,150 (GRCm39) |
R186L |
probably benign |
Het |
| Samm50 |
T |
A |
15: 84,088,298 (GRCm39) |
|
probably null |
Het |
| Scoc |
T |
C |
8: 84,164,616 (GRCm39) |
D7G |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,693,505 (GRCm39) |
P145S |
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Snrk |
A |
G |
9: 121,995,879 (GRCm39) |
R553G |
probably damaging |
Het |
| Srcap |
T |
A |
7: 127,127,722 (GRCm39) |
|
probably null |
Het |
| Syne2 |
T |
A |
12: 76,037,188 (GRCm39) |
V3789E |
possibly damaging |
Het |
| Thsd7b |
T |
C |
1: 129,744,419 (GRCm39) |
I769T |
probably damaging |
Het |
| Ttc7 |
A |
G |
17: 87,637,534 (GRCm39) |
K430E |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,124,525 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r37 |
G |
T |
7: 9,220,850 (GRCm39) |
Q338K |
probably damaging |
Het |
| Yod1 |
T |
C |
1: 130,646,885 (GRCm39) |
V254A |
probably damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,962,793 (GRCm39) |
S152P |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,140,461 (GRCm39) |
L100H |
probably damaging |
Het |
|
| Other mutations in Kifap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00737:Kifap3
|
APN |
1 |
163,624,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01655:Kifap3
|
APN |
1 |
163,623,618 (GRCm39) |
splice site |
probably benign |
|
|
IGL02385:Kifap3
|
APN |
1 |
163,693,013 (GRCm39) |
nonsense |
probably null |
|
|
IGL02517:Kifap3
|
APN |
1 |
163,653,440 (GRCm39) |
splice site |
probably benign |
|
|
IGL02756:Kifap3
|
APN |
1 |
163,689,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03034:Kifap3
|
APN |
1 |
163,715,846 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03230:Kifap3
|
APN |
1 |
163,653,293 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03270:Kifap3
|
APN |
1 |
163,676,302 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03340:Kifap3
|
APN |
1 |
163,656,718 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0207:Kifap3
|
UTSW |
1 |
163,710,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0333:Kifap3
|
UTSW |
1 |
163,624,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Kifap3
|
UTSW |
1 |
163,693,121 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Kifap3
|
UTSW |
1 |
163,656,689 (GRCm39) |
splice site |
probably benign |
|
|
R1482:Kifap3
|
UTSW |
1 |
163,653,428 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1547:Kifap3
|
UTSW |
1 |
163,621,655 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1704:Kifap3
|
UTSW |
1 |
163,656,765 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1724:Kifap3
|
UTSW |
1 |
163,610,666 (GRCm39) |
nonsense |
probably null |
|
|
R1982:Kifap3
|
UTSW |
1 |
163,689,591 (GRCm39) |
nonsense |
probably null |
|
|
R2233:Kifap3
|
UTSW |
1 |
163,683,634 (GRCm39) |
missense |
probably benign |
|
|
R2273:Kifap3
|
UTSW |
1 |
163,696,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2274:Kifap3
|
UTSW |
1 |
163,696,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2275:Kifap3
|
UTSW |
1 |
163,696,327 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3420:Kifap3
|
UTSW |
1 |
163,621,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3421:Kifap3
|
UTSW |
1 |
163,621,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3422:Kifap3
|
UTSW |
1 |
163,621,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4194:Kifap3
|
UTSW |
1 |
163,743,394 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4260:Kifap3
|
UTSW |
1 |
163,689,597 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4464:Kifap3
|
UTSW |
1 |
163,645,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4635:Kifap3
|
UTSW |
1 |
163,642,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Kifap3
|
UTSW |
1 |
163,683,645 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5426:Kifap3
|
UTSW |
1 |
163,607,440 (GRCm39) |
start codon destroyed |
probably null |
0.30 |
|
R5868:Kifap3
|
UTSW |
1 |
163,693,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Kifap3
|
UTSW |
1 |
163,696,338 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6744:Kifap3
|
UTSW |
1 |
163,676,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7051:Kifap3
|
UTSW |
1 |
163,621,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Kifap3
|
UTSW |
1 |
163,683,609 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7143:Kifap3
|
UTSW |
1 |
163,653,428 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7216:Kifap3
|
UTSW |
1 |
163,623,558 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7467:Kifap3
|
UTSW |
1 |
163,643,402 (GRCm39) |
missense |
probably benign |
|
|
R7564:Kifap3
|
UTSW |
1 |
163,743,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7939:Kifap3
|
UTSW |
1 |
163,643,427 (GRCm39) |
nonsense |
probably null |
|
|
R8108:Kifap3
|
UTSW |
1 |
163,624,931 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8496:Kifap3
|
UTSW |
1 |
163,656,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9009:Kifap3
|
UTSW |
1 |
163,696,291 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9212:Kifap3
|
UTSW |
1 |
163,610,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9228:Kifap3
|
UTSW |
1 |
163,689,666 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9350:Kifap3
|
UTSW |
1 |
163,610,630 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9652:Kifap3
|
UTSW |
1 |
163,689,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Kifap3
|
UTSW |
1 |
163,610,604 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
Z1177:Kifap3
|
UTSW |
1 |
163,689,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGGGTTACACAGCACGG -3'
(R):5'- GAGCTAAGTGCATGAGGATTCTC -3'
Sequencing Primer
(F):5'- ACACAGCACGGATGTTTGTC -3'
(R):5'- ATTCTCACAAGGCAAGAGGTGTTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation