Incidental Mutation 'R0890:Kifc5b'
| ID |
83485 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kifc5b
|
| Ensembl Gene |
ENSMUSG00000024301 |
| Gene Name |
kinesin family member C5B |
| Synonyms |
kinesin family c-terminal 5B |
| MMRRC Submission |
039053-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.394)
|
| Stock # |
R0890 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
27136065-27151553 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27141996 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 158
(T158M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077984
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078961]
|
| AlphaFold |
E9PUA5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078961
AA Change: T158M
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077984
Gene: ENSMUSG00000024301
AA Change: T158M
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,972,936 (GRCm39) |
S837P |
probably benign |
Het |
| Cdh24 |
A |
G |
14: 54,870,051 (GRCm39) |
V240A |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,291,964 (GRCm39) |
T556A |
possibly damaging |
Het |
| Coa7 |
G |
A |
4: 108,195,583 (GRCm39) |
A171T |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,684 (GRCm39) |
S381R |
probably damaging |
Het |
| Col9a3 |
C |
T |
2: 180,251,856 (GRCm39) |
P335L |
probably benign |
Het |
| Dcxr |
T |
A |
11: 120,617,297 (GRCm39) |
N82I |
probably damaging |
Het |
| Dhdh |
T |
C |
7: 45,131,395 (GRCm39) |
D146G |
possibly damaging |
Het |
| Dhrs13 |
T |
A |
11: 77,925,176 (GRCm39) |
L99Q |
probably null |
Het |
| Dnai1 |
C |
T |
4: 41,604,253 (GRCm39) |
T220M |
possibly damaging |
Het |
| Gapvd1 |
T |
A |
2: 34,602,329 (GRCm39) |
D606V |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,717,852 (GRCm39) |
C246G |
possibly damaging |
Het |
| Gdf10 |
A |
G |
14: 33,654,113 (GRCm39) |
K207E |
possibly damaging |
Het |
| Gucy2d |
T |
C |
7: 98,122,472 (GRCm39) |
V1046A |
probably benign |
Het |
| Itpr3 |
C |
A |
17: 27,307,985 (GRCm39) |
Y257* |
probably null |
Het |
| Klra7 |
C |
T |
6: 130,195,916 (GRCm39) |
D251N |
probably benign |
Het |
| Mesp1 |
T |
C |
7: 79,442,683 (GRCm39) |
D198G |
probably benign |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,777 (GRCm39) |
C149* |
probably null |
Het |
| Nphp4 |
C |
A |
4: 152,582,677 (GRCm39) |
L169I |
possibly damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,586 (GRCm39) |
T173S |
probably benign |
Het |
| Or52p2 |
C |
A |
7: 102,237,408 (GRCm39) |
E181* |
probably null |
Het |
| Or5h17 |
T |
A |
16: 58,820,150 (GRCm39) |
I34K |
possibly damaging |
Het |
| Pcgf5 |
A |
T |
19: 36,389,544 (GRCm39) |
H7L |
probably benign |
Het |
| Polr3b |
A |
C |
10: 84,550,200 (GRCm39) |
K970T |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,009,382 (GRCm39) |
D93G |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,321,312 (GRCm39) |
K1256E |
possibly damaging |
Het |
| Scn9a |
T |
C |
2: 66,314,079 (GRCm39) |
T1869A |
probably damaging |
Het |
| Setdb2 |
A |
G |
14: 59,656,669 (GRCm39) |
V232A |
possibly damaging |
Het |
| Sh3d21 |
T |
C |
4: 126,044,945 (GRCm39) |
E578G |
probably damaging |
Het |
| Tmem168 |
A |
T |
6: 13,603,271 (GRCm39) |
S32T |
probably damaging |
Het |
| Vmn1r38 |
T |
G |
6: 66,753,514 (GRCm39) |
I201L |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,132,888 (GRCm39) |
W130C |
probably damaging |
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 |
|
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 |
|
R4949:Kifc5b
|
UTSW |
17 |
27,144,488 (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'- CCTGGCAGTACGTGGCATATAAACC -3'
(R):5'- AAGCTCCTGAAGCAGCCTTTCC -3'
Sequencing Primer
(F):5'- CTATCTTCCTGTCAGGAGAGGAAAG -3'
(R):5'- GTACCCAGACATTCCTCCAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation