Incidental Mutation 'IGL02553:Kif5b'
ID |
298553 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kif5b
|
Ensembl Gene |
ENSMUSG00000006740 |
Gene Name |
kinesin family member 5B |
Synonyms |
kinesin heavy chain, Khc |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02553
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6220914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 398
(I398N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
[ENSMUST00000163210]
|
AlphaFold |
Q61768 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025083
AA Change: I398N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000025083 Gene: ENSMUSG00000006740 AA Change: I398N
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 |
probably benign
Transcript: ENSMUST00000163210
AA Change: I398N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000130750 Gene: ENSMUSG00000006740 AA Change: I398N
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164426
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168187
|
Coding Region Coverage |
|
Validation Efficiency |
|
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 |
Abcc3 |
A |
G |
11: 94,242,750 (GRCm39) |
S1326P |
probably damaging |
Het |
Alpk1 |
A |
T |
3: 127,466,970 (GRCm39) |
L1103Q |
probably damaging |
Het |
Arhgap11a |
A |
C |
2: 113,667,906 (GRCm39) |
|
probably benign |
Het |
Arl6ip6 |
A |
G |
2: 53,082,226 (GRCm39) |
Y31C |
possibly damaging |
Het |
Arpin |
G |
T |
7: 79,577,395 (GRCm39) |
D217E |
possibly damaging |
Het |
Atp13a4 |
C |
T |
16: 29,241,521 (GRCm39) |
V735I |
probably benign |
Het |
Ccdc146 |
A |
T |
5: 21,502,631 (GRCm39) |
F753L |
probably benign |
Het |
Cdh3 |
T |
A |
8: 107,270,880 (GRCm39) |
L511* |
probably null |
Het |
Chrna1 |
A |
T |
2: 73,397,206 (GRCm39) |
I361N |
possibly damaging |
Het |
Clk2 |
G |
A |
3: 89,083,020 (GRCm39) |
R432H |
probably damaging |
Het |
Col9a1 |
T |
C |
1: 24,261,018 (GRCm39) |
|
probably benign |
Het |
Cstf1 |
G |
T |
2: 172,219,774 (GRCm39) |
R295L |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,725,467 (GRCm39) |
D526G |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,577 (GRCm39) |
H593Q |
probably benign |
Het |
Dysf |
T |
C |
6: 84,107,109 (GRCm39) |
Y1171H |
possibly damaging |
Het |
Erbb4 |
A |
G |
1: 68,345,023 (GRCm39) |
L566P |
probably benign |
Het |
Fam185a |
T |
A |
5: 21,660,829 (GRCm39) |
D281E |
probably damaging |
Het |
Fam185a |
T |
A |
5: 21,634,839 (GRCm39) |
|
probably benign |
Het |
Fam91a1 |
T |
A |
15: 58,304,831 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,202,109 (GRCm39) |
W322R |
probably damaging |
Het |
Fbxw8 |
T |
A |
5: 118,204,125 (GRCm39) |
|
probably benign |
Het |
Ganc |
A |
G |
2: 120,288,615 (GRCm39) |
T874A |
probably benign |
Het |
Gm3543 |
T |
C |
14: 41,802,048 (GRCm39) |
I145M |
probably benign |
Het |
Gtf2i |
G |
A |
5: 134,274,015 (GRCm39) |
T712I |
probably damaging |
Het |
Hk1 |
A |
G |
10: 62,131,552 (GRCm39) |
S268P |
possibly damaging |
Het |
Hmcn1 |
A |
G |
1: 150,868,774 (GRCm39) |
V10A |
probably benign |
Het |
Hsd17b4 |
C |
T |
18: 50,295,164 (GRCm39) |
|
probably benign |
Het |
Ighv1-75 |
A |
T |
12: 115,797,725 (GRCm39) |
W66R |
probably damaging |
Het |
Kif21b |
G |
T |
1: 136,081,859 (GRCm39) |
D636Y |
probably damaging |
Het |
Metap2 |
T |
C |
10: 93,701,311 (GRCm39) |
M165V |
probably damaging |
Het |
Mterf2 |
A |
C |
10: 84,956,331 (GRCm39) |
L98V |
probably damaging |
Het |
Muc16 |
A |
G |
9: 18,409,849 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 69,925,568 (GRCm39) |
M12V |
probably benign |
Het |
Nat10 |
C |
A |
2: 103,583,013 (GRCm39) |
R136I |
probably damaging |
Het |
Nsd2 |
T |
G |
5: 34,003,542 (GRCm39) |
S231A |
probably damaging |
Het |
Or4a71 |
T |
C |
2: 89,358,275 (GRCm39) |
T160A |
probably benign |
Het |
Or4k37 |
A |
T |
2: 111,159,333 (GRCm39) |
M190L |
probably benign |
Het |
Pcdhb14 |
T |
A |
18: 37,581,071 (GRCm39) |
L59* |
probably null |
Het |
Pias4 |
A |
G |
10: 80,999,621 (GRCm39) |
L144P |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,433,746 (GRCm39) |
N598K |
probably benign |
Het |
Polq |
A |
G |
16: 36,862,130 (GRCm39) |
Y550C |
probably damaging |
Het |
Pot1b |
T |
A |
17: 56,002,024 (GRCm39) |
|
probably benign |
Het |
Proz |
T |
C |
8: 13,115,260 (GRCm39) |
V92A |
probably benign |
Het |
Rab4a |
T |
C |
8: 124,550,561 (GRCm39) |
F14L |
probably benign |
Het |
Riok3 |
T |
A |
18: 12,276,073 (GRCm39) |
C256* |
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,279,451 (GRCm39) |
|
probably benign |
Het |
Socs5 |
C |
T |
17: 87,442,419 (GRCm39) |
T453M |
probably damaging |
Het |
Spata3 |
T |
C |
1: 85,952,211 (GRCm39) |
L135P |
probably damaging |
Het |
Spata46 |
A |
G |
1: 170,139,534 (GRCm39) |
K178E |
probably damaging |
Het |
Spr |
T |
C |
6: 85,114,430 (GRCm39) |
N100D |
probably damaging |
Het |
Srrm4 |
C |
T |
5: 116,582,624 (GRCm39) |
|
probably benign |
Het |
Stard3 |
T |
C |
11: 98,267,389 (GRCm39) |
F169S |
possibly damaging |
Het |
Tbx1 |
T |
A |
16: 18,402,847 (GRCm39) |
D222V |
probably damaging |
Het |
Trbv23 |
C |
T |
6: 41,193,279 (GRCm39) |
Q56* |
probably null |
Het |
Tsc22d1 |
A |
G |
14: 76,654,838 (GRCm39) |
N357S |
possibly damaging |
Het |
Ugt1a6a |
C |
T |
1: 88,066,811 (GRCm39) |
P206S |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,600,657 (GRCm39) |
V19A |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,646,447 (GRCm39) |
N1517S |
probably benign |
Het |
Washc2 |
T |
C |
6: 116,218,571 (GRCm39) |
I672T |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |