Incidental Mutation 'R8464:Kif5b'
| ID |
656729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5b
|
| Ensembl Gene |
ENSMUSG00000006740 |
| Gene Name |
kinesin family member 5B |
| Synonyms |
kinesin heavy chain, Khc |
| MMRRC Submission |
067908-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6225381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 216
(N216K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
[ENSMUST00000163210]
|
| AlphaFold |
Q61768 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025083
AA Change: N216K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: N216K
| 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 damaging
Transcript: ENSMUST00000163210
AA Change: N216K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: N216K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,934 (GRCm39) |
R1344G |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,315,649 (GRCm39) |
D246E |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,674,985 (GRCm39) |
K191* |
probably null |
Het |
| Bptf |
T |
C |
11: 107,022,168 (GRCm39) |
D194G |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,389,206 (GRCm39) |
V223A |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,649,824 (GRCm39) |
K208E |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,465 (GRCm39) |
V813A |
probably benign |
Het |
| Chst14 |
T |
C |
2: 118,757,524 (GRCm39) |
V131A |
probably benign |
Het |
| Ctla4 |
A |
G |
1: 60,951,686 (GRCm39) |
T72A |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,949,635 (GRCm39) |
S531P |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,348,785 (GRCm39) |
I531V |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,605,102 (GRCm39) |
M488K |
probably benign |
Het |
| Foxa1 |
C |
A |
12: 57,589,246 (GRCm39) |
A325S |
probably benign |
Het |
| Ighv8-5 |
C |
T |
12: 115,031,309 (GRCm39) |
D77N |
probably benign |
Het |
| Itga3 |
C |
A |
11: 94,953,566 (GRCm39) |
A259S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,648,010 (GRCm39) |
N118D |
probably damaging |
Het |
| Lipo2 |
C |
T |
19: 33,726,023 (GRCm39) |
M76I |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,820,772 (GRCm39) |
A657T |
possibly damaging |
Het |
| Mms19 |
A |
C |
19: 41,935,522 (GRCm39) |
D831E |
probably damaging |
Het |
| Muc21 |
T |
G |
17: 35,933,098 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,554,453 (GRCm39) |
A808S |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,095,757 (GRCm39) |
W1834R |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,966,977 (GRCm39) |
K900* |
probably null |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,968,947 (GRCm39) |
H179N |
possibly damaging |
Het |
| Or4k40 |
A |
G |
2: 111,251,192 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,558,783 (GRCm39) |
I210N |
possibly damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,299 (GRCm39) |
T154A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,263,384 (GRCm39) |
Y82* |
probably null |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,348 (GRCm39) |
Y104H |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,332,726 (GRCm39) |
S857G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,396,625 (GRCm39) |
I89M |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,431 (GRCm39) |
H145R |
probably benign |
Het |
| Selenov |
C |
T |
7: 27,987,897 (GRCm39) |
R260Q |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,580,898 (GRCm39) |
E483G |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,345,079 (GRCm39) |
Y1021* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,180,924 (GRCm39) |
E219G |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,024,925 (GRCm39) |
T7A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,423 (GRCm39) |
K111R |
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 |
|
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 |
|
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'- CCAATTCCACAAGTTCTTAAGATGC -3'
(R):5'- GACATGTCGCAGTTACAAGTAAG -3'
Sequencing Primer
(F):5'- GTTCTTAAGATGCAACAATACGTAGC -3'
(R):5'- AGTACTCACCAGGCATGTCTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation