Incidental Mutation 'IGL01697:Kif5b'
| ID |
104305 |
| 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 # |
IGL01697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6226871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 129
(H129R)
|
| 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: H129R
PolyPhen 2
Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: H129R
| 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: H129R
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: H129R
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430015G10Rik |
T |
A |
4: 156,203,613 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
A |
C |
15: 96,259,453 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
C |
A |
9: 47,761,622 (GRCm39) |
D435E |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,248,562 (GRCm39) |
F33L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,245,459 (GRCm39) |
H199R |
probably benign |
Het |
| F5 |
T |
A |
1: 164,021,621 (GRCm39) |
N1365K |
probably benign |
Het |
| Gipc2 |
T |
G |
3: 151,843,245 (GRCm39) |
I131L |
probably benign |
Het |
| Gpc1 |
C |
T |
1: 92,786,132 (GRCm39) |
S507F |
possibly damaging |
Het |
| Grid1 |
A |
G |
14: 35,031,214 (GRCm39) |
D269G |
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,573 (GRCm39) |
M1K |
probably null |
Het |
| Lipo3 |
A |
T |
19: 33,536,965 (GRCm39) |
C252S |
probably damaging |
Het |
| Mast4 |
A |
C |
13: 102,904,401 (GRCm39) |
N645K |
probably damaging |
Het |
| Megf9 |
T |
A |
4: 70,351,709 (GRCm39) |
T471S |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,953,477 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ninl |
A |
T |
2: 150,781,867 (GRCm39) |
L1206Q |
probably damaging |
Het |
| Oog2 |
T |
A |
4: 143,921,754 (GRCm39) |
N221K |
possibly damaging |
Het |
| Or13a17 |
T |
C |
7: 140,271,565 (GRCm39) |
V249A |
possibly damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,831 (GRCm39) |
T37S |
probably benign |
Het |
| Or6c8b |
C |
A |
10: 128,882,371 (GRCm39) |
C187F |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,018 (GRCm39) |
A365V |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,356,972 (GRCm39) |
E181G |
probably benign |
Het |
| Scaf11 |
A |
C |
15: 96,321,504 (GRCm39) |
|
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,276,852 (GRCm39) |
L479F |
probably benign |
Het |
| Skint7 |
T |
A |
4: 111,837,654 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
C |
9: 99,757,716 (GRCm39) |
I8V |
probably benign |
Het |
| Spata31f3 |
T |
A |
4: 42,874,163 (GRCm39) |
M2L |
probably benign |
Het |
| Stim1 |
A |
T |
7: 102,075,176 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
C |
6: 113,376,690 (GRCm39) |
S357P |
probably benign |
Het |
| Vmn1r178 |
T |
A |
7: 23,593,114 (GRCm39) |
I54N |
probably damaging |
Het |
| Zdhhc2 |
T |
C |
8: 40,920,460 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation