Incidental Mutation 'R4517:Kif5b'
| ID |
332970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif5b
|
| Ensembl Gene |
ENSMUSG00000006740 |
| Gene Name |
kinesin family member 5B |
| Synonyms |
kinesin heavy chain, Khc |
| MMRRC Submission |
041761-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4517 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
6201005-6241524 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6213272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 707
(S707G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025083]
[ENSMUST00000163210]
|
| AlphaFold |
Q61768 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025083
AA Change: S707G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025083
Gene: ENSMUSG00000006740
AA Change: S707G
| 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
|
| SMART Domains |
Protein: ENSMUSP00000130750
Gene: ENSMUSG00000006740
| 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: ENSMUST00000168031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168187
|
| Meta Mutation Damage Score |
0.0841 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
95% (39/41) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank |
A |
G |
15: 27,562,835 (GRCm39) |
H181R |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,635 (GRCm39) |
K408E |
probably damaging |
Het |
| Cd209a |
T |
A |
8: 3,795,525 (GRCm39) |
D123V |
probably damaging |
Het |
| Cyp4f37 |
A |
G |
17: 32,850,566 (GRCm39) |
I340V |
probably benign |
Het |
| Echs1 |
A |
G |
7: 139,692,409 (GRCm39) |
S113P |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,361,059 (GRCm39) |
I391V |
probably benign |
Het |
| Glb1l |
C |
T |
1: 75,185,347 (GRCm39) |
C121Y |
probably damaging |
Het |
| Glod4 |
T |
A |
11: 76,134,397 (GRCm39) |
D25V |
probably damaging |
Het |
| Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Ibsp |
C |
A |
5: 104,453,863 (GRCm39) |
S67* |
probably null |
Het |
| Ifit1bl2 |
C |
T |
19: 34,607,164 (GRCm39) |
|
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,800,569 (GRCm39) |
|
probably null |
Het |
| Kcnma1 |
A |
G |
14: 23,387,097 (GRCm39) |
S982P |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,589,323 (GRCm39) |
I437V |
probably benign |
Het |
| Mapkbp1 |
T |
C |
2: 119,855,545 (GRCm39) |
|
probably benign |
Het |
| Mcu |
T |
C |
10: 59,303,456 (GRCm39) |
Y127C |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,007,870 (GRCm39) |
N204T |
probably benign |
Het |
| Or13a26 |
A |
G |
7: 140,285,004 (GRCm39) |
Y280C |
probably damaging |
Het |
| Or7a42 |
T |
A |
10: 78,791,877 (GRCm39) |
Y279* |
probably null |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcf11 |
T |
C |
7: 92,295,696 (GRCm39) |
Y1451C |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,309,988 (GRCm39) |
S109G |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,047,097 (GRCm39) |
S920P |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Tas2r135 |
A |
T |
6: 42,383,013 (GRCm39) |
H184L |
probably benign |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,475 (GRCm39) |
Y534C |
probably damaging |
Het |
| Wdr62 |
A |
G |
7: 29,969,683 (GRCm39) |
V259A |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,379,517 (GRCm39) |
|
probably null |
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 |
|
|
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'- TATGAGGATGCCTGTCCATCAG -3'
(R):5'- CTCAGGAATCTTAAGAGTCACTTTG -3'
Sequencing Primer
(F):5'- CCATCAGGATCTCTTGTCTGAAG -3'
(R):5'- CTCTTACTCTCATGTACAAAACAGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation