Incidental Mutation 'R6269:Kif5b'
| ID |
507252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5b
|
| Ensembl Gene |
ENSMUSG00000006740 |
| Gene Name |
kinesin family member 5B |
| Synonyms |
kinesin heavy chain, Khc |
| MMRRC Submission |
044440-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6269 (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 G
at 6223558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 317
(L317P)
|
| 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: L317P
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: L317P
| 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: L317P
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
AA Change: L317P
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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 |
|---|
| Aak1 |
T |
A |
6: 86,941,033 (GRCm39) |
I609N |
unknown |
Het |
| Ano10 |
A |
T |
9: 122,090,308 (GRCm39) |
I277N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,237,499 (GRCm39) |
D483G |
probably damaging |
Het |
| As3mt |
T |
A |
19: 46,708,391 (GRCm39) |
F226Y |
probably damaging |
Het |
| Atp10a |
G |
A |
7: 58,453,487 (GRCm39) |
R855H |
possibly damaging |
Het |
| Bin3 |
T |
A |
14: 70,374,611 (GRCm39) |
H213Q |
probably benign |
Het |
| Bora |
T |
C |
14: 99,311,103 (GRCm39) |
C512R |
probably damaging |
Het |
| Camk2b |
T |
A |
11: 5,928,497 (GRCm39) |
D414V |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,122,179 (GRCm39) |
L233Q |
unknown |
Het |
| Ccdc73 |
T |
C |
2: 104,737,978 (GRCm39) |
S25P |
probably damaging |
Het |
| Cenpf |
G |
A |
1: 189,392,117 (GRCm39) |
H572Y |
probably benign |
Het |
| Chil4 |
A |
G |
3: 106,111,487 (GRCm39) |
V209A |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,728,524 (GRCm39) |
V650A |
probably benign |
Het |
| Cox6a2 |
T |
A |
7: 127,805,437 (GRCm39) |
S11C |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,656,317 (GRCm39) |
E238G |
probably benign |
Het |
| Cyp2c23 |
T |
A |
19: 44,017,626 (GRCm39) |
M1L |
unknown |
Het |
| Cyp4a10 |
T |
A |
4: 115,381,509 (GRCm39) |
M191K |
probably damaging |
Het |
| Cyp4a14 |
A |
G |
4: 115,348,328 (GRCm39) |
V383A |
possibly damaging |
Het |
| D130052B06Rik |
T |
G |
11: 33,573,916 (GRCm39) |
V171G |
possibly damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,872,369 (GRCm39) |
T617A |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,863,690 (GRCm39) |
I351F |
probably damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,585 (GRCm39) |
V94A |
probably benign |
Het |
| Fam111a |
A |
G |
19: 12,565,807 (GRCm39) |
T519A |
probably benign |
Het |
| Gdpd4 |
A |
G |
7: 97,623,669 (GRCm39) |
S314G |
probably damaging |
Het |
| Gm9758 |
T |
A |
5: 14,962,274 (GRCm39) |
K111N |
possibly damaging |
Het |
| Gpr137b |
A |
T |
13: 13,538,096 (GRCm39) |
V285E |
probably damaging |
Het |
| Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
| Itgal |
T |
A |
7: 126,929,389 (GRCm39) |
L1102Q |
probably null |
Het |
| Kctd19 |
T |
A |
8: 106,121,992 (GRCm39) |
Y185F |
possibly damaging |
Het |
| Klhl42 |
C |
A |
6: 146,993,805 (GRCm39) |
A259E |
probably damaging |
Het |
| Lrrc2 |
A |
G |
9: 110,810,017 (GRCm39) |
D351G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,135,243 (GRCm39) |
E797G |
probably damaging |
Het |
| Mink1 |
A |
G |
11: 70,489,813 (GRCm39) |
E63G |
probably damaging |
Het |
| Nek9 |
T |
C |
12: 85,379,103 (GRCm39) |
|
probably null |
Het |
| Or12e8 |
A |
T |
2: 87,677,218 (GRCm39) |
H201L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,557,295 (GRCm39) |
V627I |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,572,108 (GRCm39) |
Q498* |
probably null |
Het |
| Pdlim5 |
T |
C |
3: 142,018,086 (GRCm39) |
T170A |
possibly damaging |
Het |
| Pgap1 |
A |
T |
1: 54,587,167 (GRCm39) |
Y136* |
probably null |
Het |
| Pgghg |
T |
A |
7: 140,526,097 (GRCm39) |
N563K |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,044,916 (GRCm39) |
M1143T |
probably benign |
Het |
| Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,959,175 (GRCm39) |
R381Q |
probably damaging |
Het |
| Psph |
A |
T |
5: 129,843,529 (GRCm39) |
I175N |
probably damaging |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,305 (GRCm39) |
K131* |
probably null |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Sde2 |
G |
A |
1: 180,683,371 (GRCm39) |
V42I |
probably benign |
Het |
| Slc25a3 |
G |
A |
10: 90,952,963 (GRCm39) |
R314* |
probably null |
Het |
| Spag9 |
A |
G |
11: 93,935,333 (GRCm39) |
N48S |
probably benign |
Het |
| Srp54b |
T |
C |
12: 55,302,757 (GRCm39) |
M351T |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,604,342 (GRCm39) |
L679P |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,944 (GRCm39) |
N815K |
probably benign |
Het |
| Usp17la |
A |
T |
7: 104,509,557 (GRCm39) |
Q54L |
possibly damaging |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,036 (GRCm39) |
I125K |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,566,679 (GRCm39) |
Y732H |
probably damaging |
Het |
| Zfp131 |
A |
G |
13: 120,227,941 (GRCm39) |
S603P |
possibly damaging |
Het |
| Zfp28 |
G |
T |
7: 6,396,612 (GRCm39) |
S349I |
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 |
|
|
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 |
|
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'- TCAAGTGCATCAGTGAGCTTC -3'
(R):5'- TCTGATCACAATGCTTGAGGC -3'
Sequencing Primer
(F):5'- AGCTTCACATAGGCTCATATATCTG -3'
(R):5'- CAGGATGACCAAGAGTTATACAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation