Incidental Mutation 'R5290:Kif5b'
ID |
424687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif5b
|
Ensembl Gene |
ENSMUSG00000006740 |
Gene Name |
kinesin family member 5B |
Synonyms |
kinesin heavy chain, Khc |
MMRRC Submission |
042873-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5290 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6234882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 49
(D49E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
[ENSMUST00000163210]
|
AlphaFold |
Q61768 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000025083
AA Change: D49E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000025083 Gene: ENSMUSG00000006740 AA Change: D49E
Domain | Start | End | E-Value | Type |
KISc
|
6 |
333 |
4.48e-172 |
SMART |
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
coiled coil region
|
412 |
564 |
N/A |
INTRINSIC |
coiled coil region
|
596 |
802 |
N/A |
INTRINSIC |
coiled coil region
|
825 |
914 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163210
AA Change: D49E
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130750 Gene: ENSMUSG00000006740 AA Change: D49E
Domain | Start | End | E-Value | Type |
KISc
|
6 |
333 |
4.48e-172 |
SMART |
low complexity region
|
341 |
352 |
N/A |
INTRINSIC |
coiled coil region
|
412 |
564 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9507 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
97% (70/72) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos during organogenesis, exhibit growth retardation and fail to turn during gastrulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110008E08Rik |
A |
T |
16: 90,351,098 (GRCm39) |
|
noncoding transcript |
Het |
2700049A03Rik |
C |
A |
12: 71,235,565 (GRCm39) |
P1172T |
probably benign |
Het |
Abi3bp |
T |
A |
16: 56,462,838 (GRCm39) |
|
probably null |
Het |
Apod |
T |
A |
16: 31,129,884 (GRCm39) |
H24L |
probably damaging |
Het |
Arfgef3 |
T |
C |
10: 18,476,208 (GRCm39) |
E1537G |
probably damaging |
Het |
B020004C17Rik |
T |
C |
14: 57,254,036 (GRCm39) |
V53A |
possibly damaging |
Het |
Ccdc113 |
C |
A |
8: 96,267,424 (GRCm39) |
|
probably null |
Het |
Cd7 |
T |
G |
11: 120,928,936 (GRCm39) |
D105A |
probably damaging |
Het |
Celsr3 |
C |
T |
9: 108,720,357 (GRCm39) |
T2550M |
probably benign |
Het |
Cibar1 |
T |
C |
4: 12,171,195 (GRCm39) |
Q86R |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,823,282 (GRCm39) |
G25D |
unknown |
Het |
Cps1 |
A |
G |
1: 67,211,868 (GRCm39) |
M679V |
probably benign |
Het |
Dnai4 |
A |
T |
4: 102,906,730 (GRCm39) |
D694E |
probably benign |
Het |
Dync1h1 |
A |
T |
12: 110,581,502 (GRCm39) |
T316S |
probably benign |
Het |
Edrf1 |
T |
C |
7: 133,252,295 (GRCm39) |
Y449H |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Flg2 |
A |
T |
3: 93,127,873 (GRCm39) |
I2262L |
unknown |
Het |
Flnc |
T |
C |
6: 29,457,553 (GRCm39) |
L2417P |
probably damaging |
Het |
Gabrp |
A |
T |
11: 33,517,310 (GRCm39) |
Y121N |
probably damaging |
Het |
Gdpd4 |
A |
G |
7: 97,615,543 (GRCm39) |
T123A |
possibly damaging |
Het |
Gpr162 |
C |
A |
6: 124,838,232 (GRCm39) |
M139I |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,186,484 (GRCm39) |
S410N |
probably benign |
Het |
Gtf2f2 |
T |
C |
14: 76,135,089 (GRCm39) |
Y212C |
probably damaging |
Het |
Hao2 |
C |
T |
3: 98,784,493 (GRCm39) |
A291T |
probably damaging |
Het |
Igkv1-133 |
A |
G |
6: 67,702,563 (GRCm39) |
T94A |
possibly damaging |
Het |
Irf2bp1 |
G |
A |
7: 18,738,923 (GRCm39) |
A188T |
possibly damaging |
Het |
Itpr1 |
T |
C |
6: 108,383,106 (GRCm39) |
V1478A |
possibly damaging |
Het |
Kdm5b |
T |
C |
1: 134,549,837 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
A |
G |
15: 98,810,123 (GRCm39) |
W113R |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,343,698 (GRCm39) |
D887G |
probably damaging |
Het |
Lrrc14 |
T |
A |
15: 76,598,143 (GRCm39) |
M291K |
probably benign |
Het |
Lypd11 |
T |
C |
7: 24,422,836 (GRCm39) |
E79G |
probably benign |
Het |
Mgarp |
G |
A |
3: 51,296,387 (GRCm39) |
A205V |
possibly damaging |
Het |
Msl2 |
T |
C |
9: 100,978,606 (GRCm39) |
|
probably null |
Het |
Nfix |
G |
A |
8: 85,440,406 (GRCm39) |
Q487* |
probably null |
Het |
Notch4 |
T |
C |
17: 34,784,263 (GRCm39) |
V22A |
probably benign |
Het |
Npc1l1 |
T |
A |
11: 6,172,221 (GRCm39) |
Q823L |
probably benign |
Het |
Obox3 |
T |
C |
7: 15,360,774 (GRCm39) |
K122E |
probably benign |
Het |
Or10ab5 |
C |
T |
7: 108,245,755 (GRCm39) |
M9I |
probably benign |
Het |
Or2a12 |
A |
G |
6: 42,904,972 (GRCm39) |
K269R |
probably damaging |
Het |
Or8s10 |
T |
C |
15: 98,336,213 (GRCm39) |
Y288H |
probably damaging |
Het |
Plekhh3 |
T |
A |
11: 101,057,397 (GRCm39) |
M287L |
possibly damaging |
Het |
Prpf3 |
A |
T |
3: 95,760,857 (GRCm39) |
I15K |
probably benign |
Het |
Rpl12-ps1 |
G |
T |
1: 36,997,423 (GRCm39) |
|
noncoding transcript |
Het |
Rps8 |
G |
C |
4: 117,012,352 (GRCm39) |
|
probably benign |
Het |
Setd2 |
T |
C |
9: 110,446,899 (GRCm39) |
V2489A |
probably damaging |
Het |
Slfn10-ps |
T |
A |
11: 82,919,851 (GRCm39) |
|
noncoding transcript |
Het |
Smad2 |
C |
T |
18: 76,395,795 (GRCm39) |
P78L |
probably damaging |
Het |
Spen |
G |
A |
4: 141,201,127 (GRCm39) |
T2500I |
probably damaging |
Het |
Stmnd1 |
A |
G |
13: 46,453,074 (GRCm39) |
D250G |
probably benign |
Het |
Tjp2 |
T |
G |
19: 24,108,568 (GRCm39) |
E181D |
probably benign |
Het |
Tmem131l |
T |
C |
3: 83,806,572 (GRCm39) |
D1478G |
probably benign |
Het |
Trim72 |
G |
T |
7: 127,609,176 (GRCm39) |
R326L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,727,584 (GRCm39) |
|
probably benign |
Het |
Vmn1r177 |
A |
T |
7: 23,565,498 (GRCm39) |
M126K |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,224,319 (GRCm39) |
I281M |
probably damaging |
Het |
Vmn2r108 |
C |
A |
17: 20,691,665 (GRCm39) |
R286L |
probably benign |
Het |
Wdr25 |
T |
C |
12: 108,863,968 (GRCm39) |
S38P |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,080,229 (GRCm39) |
Y86* |
probably null |
Het |
Zfr2 |
CTCAGACTGGTGTCAGAC |
CTCAGAC |
10: 81,082,544 (GRCm39) |
|
probably null |
Het |
Zswim1 |
C |
T |
2: 164,667,845 (GRCm39) |
H366Y |
probably damaging |
Het |
|
Other mutations in Kif5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00787:Kif5b
|
APN |
18 |
6,226,973 (GRCm39) |
splice site |
probably benign |
|
IGL01697:Kif5b
|
APN |
18 |
6,226,871 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01759:Kif5b
|
APN |
18 |
6,211,019 (GRCm39) |
unclassified |
probably benign |
|
IGL01759:Kif5b
|
APN |
18 |
6,225,647 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02027:Kif5b
|
APN |
18 |
6,209,089 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02553:Kif5b
|
APN |
18 |
6,220,914 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03327:Kif5b
|
APN |
18 |
6,222,767 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03346:Kif5b
|
APN |
18 |
6,222,767 (GRCm39) |
missense |
probably damaging |
0.96 |
e-enhancer
|
UTSW |
18 |
6,213,272 (GRCm39) |
missense |
probably benign |
0.00 |
R0440:Kif5b
|
UTSW |
18 |
6,226,980 (GRCm39) |
splice site |
probably benign |
|
R0743:Kif5b
|
UTSW |
18 |
6,209,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R1241:Kif5b
|
UTSW |
18 |
6,214,044 (GRCm39) |
missense |
probably benign |
0.07 |
R1386:Kif5b
|
UTSW |
18 |
6,226,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R1720:Kif5b
|
UTSW |
18 |
6,213,427 (GRCm39) |
missense |
probably benign |
|
R1964:Kif5b
|
UTSW |
18 |
6,209,059 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2061:Kif5b
|
UTSW |
18 |
6,226,377 (GRCm39) |
splice site |
probably null |
|
R2091:Kif5b
|
UTSW |
18 |
6,213,248 (GRCm39) |
nonsense |
probably null |
|
R4510:Kif5b
|
UTSW |
18 |
6,214,011 (GRCm39) |
missense |
probably benign |
0.01 |
R4511:Kif5b
|
UTSW |
18 |
6,214,011 (GRCm39) |
missense |
probably benign |
0.01 |
R4515:Kif5b
|
UTSW |
18 |
6,208,257 (GRCm39) |
missense |
probably benign |
|
R4517:Kif5b
|
UTSW |
18 |
6,213,272 (GRCm39) |
missense |
probably benign |
0.00 |
R4690:Kif5b
|
UTSW |
18 |
6,216,759 (GRCm39) |
missense |
probably benign |
|
R4838:Kif5b
|
UTSW |
18 |
6,216,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R4865:Kif5b
|
UTSW |
18 |
6,222,912 (GRCm39) |
intron |
probably benign |
|
R4906:Kif5b
|
UTSW |
18 |
6,220,930 (GRCm39) |
missense |
probably benign |
0.00 |
R5260:Kif5b
|
UTSW |
18 |
6,211,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R5517:Kif5b
|
UTSW |
18 |
6,220,954 (GRCm39) |
missense |
probably benign |
0.00 |
R5588:Kif5b
|
UTSW |
18 |
6,225,787 (GRCm39) |
missense |
probably benign |
0.03 |
R5621:Kif5b
|
UTSW |
18 |
6,226,883 (GRCm39) |
missense |
probably benign |
0.41 |
R6269:Kif5b
|
UTSW |
18 |
6,223,558 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6377:Kif5b
|
UTSW |
18 |
6,212,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R6955:Kif5b
|
UTSW |
18 |
6,211,070 (GRCm39) |
missense |
probably benign |
0.09 |
R7256:Kif5b
|
UTSW |
18 |
6,225,340 (GRCm39) |
missense |
probably damaging |
0.99 |
R7536:Kif5b
|
UTSW |
18 |
6,216,235 (GRCm39) |
missense |
probably benign |
0.05 |
R7892:Kif5b
|
UTSW |
18 |
6,212,517 (GRCm39) |
missense |
probably benign |
0.02 |
R7962:Kif5b
|
UTSW |
18 |
6,241,040 (GRCm39) |
missense |
probably benign |
0.02 |
R8238:Kif5b
|
UTSW |
18 |
6,227,619 (GRCm39) |
missense |
probably damaging |
1.00 |
R8444:Kif5b
|
UTSW |
18 |
6,213,245 (GRCm39) |
missense |
probably benign |
0.00 |
R8464:Kif5b
|
UTSW |
18 |
6,225,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R8670:Kif5b
|
UTSW |
18 |
6,214,631 (GRCm39) |
missense |
probably benign |
0.01 |
R8691:Kif5b
|
UTSW |
18 |
6,225,787 (GRCm39) |
missense |
probably benign |
0.38 |
R8796:Kif5b
|
UTSW |
18 |
6,226,965 (GRCm39) |
missense |
probably benign |
0.01 |
R8897:Kif5b
|
UTSW |
18 |
6,225,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R8989:Kif5b
|
UTSW |
18 |
6,209,021 (GRCm39) |
missense |
probably damaging |
0.98 |
R9003:Kif5b
|
UTSW |
18 |
6,224,047 (GRCm39) |
missense |
probably benign |
0.33 |
R9015:Kif5b
|
UTSW |
18 |
6,216,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R9047:Kif5b
|
UTSW |
18 |
6,208,261 (GRCm39) |
missense |
probably benign |
|
R9369:Kif5b
|
UTSW |
18 |
6,223,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R9622:Kif5b
|
UTSW |
18 |
6,225,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTAATTAATGTAGGTGAAAGCAGGC -3'
(R):5'- ACTTGTCGGAGTATAGCCTGC -3'
Sequencing Primer
(F):5'- ACACGGCTACAGTGTACTTAG -3'
(R):5'- TATAGCCTGCGGTGCACTGAG -3'
|
Posted On |
2016-08-04 |