Incidental Mutation 'R4515:Kif5b'
ID |
332886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif5b
|
Ensembl Gene |
ENSMUSG00000006740 |
Gene Name |
kinesin family member 5B |
Synonyms |
kinesin heavy chain, Khc |
MMRRC Submission |
041589-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4515 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6208257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 947
(V947A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
|
AlphaFold |
Q61768 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025083
AA Change: V947A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025083 Gene: ENSMUSG00000006740 AA Change: V947A
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 |
noncoding transcript
Transcript: ENSMUST00000168031
|
Meta Mutation Damage Score |
0.0676 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
96% (65/68) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
T |
5: 138,646,006 (GRCm39) |
K630N |
probably damaging |
Het |
Acss2 |
C |
A |
2: 155,398,283 (GRCm39) |
L335I |
probably benign |
Het |
Alg6 |
A |
T |
4: 99,641,023 (GRCm39) |
|
probably benign |
Het |
Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
Bsn |
G |
T |
9: 107,981,277 (GRCm39) |
|
probably null |
Het |
Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
Cdhr4 |
G |
A |
9: 107,870,150 (GRCm39) |
E52K |
probably benign |
Het |
Ces1a |
T |
A |
8: 93,747,532 (GRCm39) |
N500Y |
probably damaging |
Het |
Chd3 |
G |
T |
11: 69,240,703 (GRCm39) |
R1579S |
probably benign |
Het |
Chrnb3 |
T |
C |
8: 27,875,118 (GRCm39) |
L39P |
probably damaging |
Het |
Ckm |
A |
G |
7: 19,154,209 (GRCm39) |
K319E |
probably damaging |
Het |
Cnot6 |
C |
T |
11: 49,593,363 (GRCm39) |
|
probably null |
Het |
Copg1 |
A |
G |
6: 87,884,528 (GRCm39) |
|
probably benign |
Het |
Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
Dnah2 |
A |
G |
11: 69,356,457 (GRCm39) |
S2135P |
possibly damaging |
Het |
Dsg2 |
C |
A |
18: 20,734,444 (GRCm39) |
D807E |
probably benign |
Het |
Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
Hemgn |
T |
C |
4: 46,396,477 (GRCm39) |
E253G |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,696,537 (GRCm39) |
V47M |
probably damaging |
Het |
Kif9 |
A |
G |
9: 110,318,935 (GRCm39) |
H133R |
probably benign |
Het |
Lce1l |
T |
C |
3: 92,757,781 (GRCm39) |
T26A |
unknown |
Het |
Macf1 |
T |
C |
4: 123,387,781 (GRCm39) |
E1172G |
probably damaging |
Het |
Nkx3-2 |
C |
T |
5: 41,921,281 (GRCm39) |
V3M |
probably damaging |
Het |
Nr2e1 |
G |
A |
10: 42,454,187 (GRCm39) |
T49I |
probably benign |
Het |
Oc90 |
A |
G |
15: 65,764,242 (GRCm39) |
L138P |
probably damaging |
Het |
Or7g12 |
T |
G |
9: 18,899,278 (GRCm39) |
|
probably null |
Het |
Or8g34 |
C |
T |
9: 39,373,527 (GRCm39) |
R264* |
probably null |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
Paqr3 |
T |
A |
5: 97,251,220 (GRCm39) |
N168I |
possibly damaging |
Het |
Pcdhac1 |
T |
A |
18: 37,224,432 (GRCm39) |
I415N |
probably damaging |
Het |
Pdik1l |
T |
C |
4: 134,006,207 (GRCm39) |
N75S |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
Prkch |
A |
G |
12: 73,749,612 (GRCm39) |
T402A |
possibly damaging |
Het |
Ptger4 |
C |
A |
15: 5,271,860 (GRCm39) |
R253L |
probably damaging |
Het |
Rabac1 |
A |
T |
7: 24,669,585 (GRCm39) |
Y173* |
probably null |
Het |
Rapsn |
G |
A |
2: 90,873,557 (GRCm39) |
V288M |
possibly damaging |
Het |
Rnf26rt |
C |
T |
6: 76,473,792 (GRCm39) |
V275I |
probably benign |
Het |
Sec31a |
A |
G |
5: 100,513,817 (GRCm39) |
S993P |
probably damaging |
Het |
Septin4 |
A |
G |
11: 87,458,883 (GRCm39) |
H419R |
probably benign |
Het |
Serpina9 |
T |
A |
12: 103,967,553 (GRCm39) |
M281L |
probably benign |
Het |
Serpine1 |
G |
A |
5: 137,098,322 (GRCm39) |
A117V |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,120,764 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
Slc6a12 |
T |
A |
6: 121,330,489 (GRCm39) |
|
probably null |
Het |
Stk11 |
A |
G |
10: 79,952,435 (GRCm39) |
|
probably benign |
Het |
Tcaf3 |
A |
G |
6: 42,566,930 (GRCm39) |
Y720H |
probably damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Tmprss11a |
C |
T |
5: 86,568,055 (GRCm39) |
R224K |
probably damaging |
Het |
Tmprss15 |
C |
T |
16: 78,754,244 (GRCm39) |
S988N |
probably benign |
Het |
Txn2 |
A |
T |
15: 77,799,643 (GRCm39) |
|
probably null |
Het |
Ugt1a10 |
T |
A |
1: 87,983,919 (GRCm39) |
V239E |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,603,466 (GRCm39) |
D548V |
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 |
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 |
R5290:Kif5b
|
UTSW |
18 |
6,234,882 (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'- GGCATACCCATTGTGTAGGATAC -3'
(R):5'- CTAAACACTGAGGAATGGTTAGTG -3'
Sequencing Primer
(F):5'- CTGAGGACAGCTACAGTGTACTTAC -3'
(R):5'- CACTGAGGAATGGTTAGTGAATAGG -3'
|
Posted On |
2015-08-18 |