Incidental Mutation 'R4949:Kifc5b'
| ID |
383685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifc5b
|
| Ensembl Gene |
ENSMUSG00000024301 |
| Gene Name |
kinesin family member C5B |
| Synonyms |
kinesin family c-terminal 5B |
| MMRRC Submission |
042546-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
R4949 (G1)
|
| Quality Score |
219 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27136065-27151553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27144488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 536
(R536S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078961]
|
| AlphaFold |
E9PUA5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078961
AA Change: R536S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301
AA Change: R536S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
240 |
N/A |
INTRINSIC |
|
KISc
|
307 |
670 |
1.34e-143 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184919
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,769,450 (GRCm39) |
V692A |
probably benign |
Het |
| Bcl2l13 |
G |
T |
6: 120,864,191 (GRCm39) |
G382W |
probably damaging |
Het |
| Cdhr5 |
T |
A |
7: 140,852,557 (GRCm39) |
N353I |
probably damaging |
Het |
| Chil4 |
A |
G |
3: 106,113,408 (GRCm39) |
S170P |
possibly damaging |
Het |
| Clp1 |
A |
C |
2: 84,554,086 (GRCm39) |
M361R |
possibly damaging |
Het |
| Cylc2 |
A |
G |
4: 51,229,804 (GRCm39) |
K382R |
unknown |
Het |
| Dsg2 |
T |
A |
18: 20,723,241 (GRCm39) |
D422E |
probably damaging |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Gm14295 |
A |
C |
2: 176,501,469 (GRCm39) |
T320P |
probably damaging |
Het |
| Ido2 |
T |
G |
8: 25,023,970 (GRCm39) |
|
probably null |
Het |
| Ift140 |
T |
A |
17: 25,313,639 (GRCm39) |
S1357T |
probably benign |
Het |
| Insr |
T |
G |
8: 3,235,059 (GRCm39) |
E145A |
probably benign |
Het |
| Itpripl1 |
A |
G |
2: 126,983,327 (GRCm39) |
M265T |
probably benign |
Het |
| Kcnb1 |
G |
T |
2: 166,947,521 (GRCm39) |
N442K |
probably damaging |
Het |
| Klf6 |
A |
T |
13: 5,914,947 (GRCm39) |
S129C |
probably benign |
Het |
| Lpin2 |
C |
G |
17: 71,538,334 (GRCm39) |
P327A |
probably damaging |
Het |
| Lsm1 |
T |
C |
8: 26,292,065 (GRCm39) |
V114A |
probably benign |
Het |
| Map7d1 |
C |
T |
4: 126,128,846 (GRCm39) |
W218* |
probably null |
Het |
| N4bp2 |
T |
A |
5: 65,979,142 (GRCm39) |
|
probably null |
Het |
| Nt5el |
T |
A |
13: 105,246,214 (GRCm39) |
S258R |
probably damaging |
Het |
| Rheb |
A |
T |
5: 25,008,729 (GRCm39) |
I163K |
possibly damaging |
Het |
| Rph3a |
T |
C |
5: 121,101,897 (GRCm39) |
D113G |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,927,663 (GRCm39) |
N1381D |
probably damaging |
Het |
| Sdsl |
T |
A |
5: 120,597,870 (GRCm39) |
N208Y |
possibly damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,591 (GRCm39) |
N8S |
possibly damaging |
Het |
| Sox18 |
G |
A |
2: 181,313,017 (GRCm39) |
Q100* |
probably null |
Het |
| Taar8b |
C |
T |
10: 23,967,825 (GRCm39) |
C123Y |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,731,858 (GRCm39) |
I56V |
possibly damaging |
Het |
| Tes |
C |
A |
6: 17,100,359 (GRCm39) |
H331N |
probably benign |
Het |
| Tmbim1 |
T |
G |
1: 74,334,524 (GRCm39) |
D12A |
probably damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,086,841 (GRCm39) |
I307V |
possibly damaging |
Het |
| Ttll1 |
A |
T |
15: 83,386,374 (GRCm39) |
M77K |
probably null |
Het |
| Ttpal |
G |
A |
2: 163,455,671 (GRCm39) |
R220Q |
probably damaging |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,625 (GRCm39) |
H271Q |
probably benign |
Het |
| Vmn2r32 |
A |
G |
7: 7,467,083 (GRCm39) |
I815T |
probably benign |
Het |
|
| Other mutations in Kifc5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01337:Kifc5b
|
APN |
17 |
27,143,718 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01886:Kifc5b
|
APN |
17 |
27,151,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
FR4449:Kifc5b
|
UTSW |
17 |
27,143,191 (GRCm39) |
missense |
probably benign |
|
|
R0394:Kifc5b
|
UTSW |
17 |
27,142,056 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0800:Kifc5b
|
UTSW |
17 |
27,142,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0890:Kifc5b
|
UTSW |
17 |
27,141,996 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1122:Kifc5b
|
UTSW |
17 |
27,143,035 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1651:Kifc5b
|
UTSW |
17 |
27,144,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Kifc5b
|
UTSW |
17 |
27,136,264 (GRCm39) |
splice site |
probably null |
|
|
R1955:Kifc5b
|
UTSW |
17 |
27,145,271 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2279:Kifc5b
|
UTSW |
17 |
27,144,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4921:Kifc5b
|
UTSW |
17 |
27,139,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5044:Kifc5b
|
UTSW |
17 |
27,143,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6144:Kifc5b
|
UTSW |
17 |
27,140,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6393:Kifc5b
|
UTSW |
17 |
27,140,816 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6484:Kifc5b
|
UTSW |
17 |
27,143,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7075:Kifc5b
|
UTSW |
17 |
27,144,872 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7385:Kifc5b
|
UTSW |
17 |
27,144,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Kifc5b
|
UTSW |
17 |
27,143,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Kifc5b
|
UTSW |
17 |
27,139,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9661:Kifc5b
|
UTSW |
17 |
27,140,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9765:Kifc5b
|
UTSW |
17 |
27,142,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACACACTCACTCTGTTGC -3'
(R):5'- CCTACCTTATTGCTCAGGGC -3'
Sequencing Primer
(F):5'- ACTCTGTTGCTCTGCGGC -3'
(R):5'- TATTGCTCAGGGCCATTATGACCAG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation