Incidental Mutation 'R0552:Klhdc8b'
ID |
45244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc8b
|
Ensembl Gene |
ENSMUSG00000032609 |
Gene Name |
kelch domain containing 8B |
Synonyms |
4931406O17Rik |
MMRRC Submission |
038744-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
R0552 (G1)
|
Quality Score |
210 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
108324835-108338780 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 108326422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 158
(R158G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035232]
[ENSMUST00000057265]
[ENSMUST00000193286]
[ENSMUST00000193895]
[ENSMUST00000195435]
|
AlphaFold |
Q9D2D9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035232
AA Change: R204G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035232 Gene: ENSMUSG00000032609 AA Change: R204G
Domain | Start | End | E-Value | Type |
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
Kelch
|
239 |
281 |
8.33e0 |
SMART |
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057265
|
SMART Domains |
Protein: ENSMUSP00000059069 Gene: ENSMUSG00000050641
Domain | Start | End | E-Value | Type |
Pfam:HDNR
|
3 |
156 |
1.7e-22 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192160
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192245
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192955
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193159
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194633
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193286
AA Change: R204G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000142325 Gene: ENSMUSG00000032609 AA Change: R204G
Domain | Start | End | E-Value | Type |
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
Kelch
|
239 |
281 |
8.33e0 |
SMART |
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000193895
AA Change: R204G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141453 Gene: ENSMUSG00000032609 AA Change: R204G
Domain | Start | End | E-Value | Type |
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
Kelch
|
239 |
281 |
8.33e0 |
SMART |
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000195435
AA Change: R158G
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000141558 Gene: ENSMUSG00000032609 AA Change: R158G
Domain | Start | End | E-Value | Type |
Kelch
|
32 |
79 |
7e-9 |
SMART |
Kelch
|
80 |
127 |
6.3e-4 |
SMART |
Kelch
|
128 |
176 |
1.5e-8 |
SMART |
Kelch
|
193 |
235 |
2.8e-2 |
SMART |
Kelch
|
236 |
283 |
1.3e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193911
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194559
|
Meta Mutation Damage Score |
0.1858 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam9 |
A |
T |
8: 25,453,026 (GRCm39) |
N760K |
probably benign |
Het |
Ahcyl |
T |
A |
16: 45,974,955 (GRCm39) |
T141S |
probably benign |
Het |
Akr1b10 |
A |
G |
6: 34,369,920 (GRCm39) |
T216A |
possibly damaging |
Het |
Arsj |
A |
G |
3: 126,232,993 (GRCm39) |
R580G |
probably benign |
Het |
C9 |
A |
T |
15: 6,474,918 (GRCm39) |
I26F |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,533,041 (GRCm39) |
E578G |
probably damaging |
Het |
Clca4b |
C |
T |
3: 144,622,536 (GRCm39) |
V510I |
probably benign |
Het |
Dab2 |
C |
T |
15: 6,464,895 (GRCm39) |
T561I |
possibly damaging |
Het |
Golga5 |
A |
T |
12: 102,450,752 (GRCm39) |
E12D |
possibly damaging |
Het |
Hsd17b12 |
A |
T |
2: 93,874,280 (GRCm39) |
F208I |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,579,008 (GRCm39) |
|
probably benign |
Het |
Kcnh3 |
T |
A |
15: 99,127,337 (GRCm39) |
W378R |
probably damaging |
Het |
Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
Lcn3 |
T |
C |
2: 25,656,421 (GRCm39) |
|
probably null |
Het |
Mppe1 |
A |
G |
18: 67,370,419 (GRCm39) |
|
probably null |
Het |
Muc20 |
G |
A |
16: 32,614,300 (GRCm39) |
A359V |
probably damaging |
Het |
Myh14 |
T |
C |
7: 44,263,105 (GRCm39) |
D1765G |
probably damaging |
Het |
Or10j2 |
T |
C |
1: 173,098,372 (GRCm39) |
M210T |
probably benign |
Het |
Or4c10b |
C |
T |
2: 89,711,235 (GRCm39) |
Q22* |
probably null |
Het |
Or5p58 |
A |
G |
7: 107,693,985 (GRCm39) |
M264T |
probably benign |
Het |
Pbrm1 |
T |
A |
14: 30,757,916 (GRCm39) |
L182Q |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,967,095 (GRCm39) |
N412S |
probably benign |
Het |
Phyh |
A |
G |
2: 4,940,912 (GRCm39) |
T271A |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,352,942 (GRCm39) |
S258P |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,291,463 (GRCm39) |
E2G |
probably benign |
Het |
Ralgapa1 |
G |
T |
12: 55,723,550 (GRCm39) |
Q2115K |
probably benign |
Het |
Rufy3 |
A |
G |
5: 88,732,129 (GRCm39) |
E44G |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,395,721 (GRCm39) |
N712I |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,095,985 (GRCm39) |
M303T |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,052,509 (GRCm39) |
I154T |
probably benign |
Het |
Syne2 |
A |
G |
12: 75,977,778 (GRCm39) |
K1409E |
probably benign |
Het |
Tfap2b |
T |
C |
1: 19,304,449 (GRCm39) |
Y420H |
probably damaging |
Het |
Tlr5 |
A |
G |
1: 182,803,261 (GRCm39) |
|
probably null |
Het |
Tmprss15 |
C |
T |
16: 78,821,637 (GRCm39) |
|
probably null |
Het |
Tns1 |
A |
T |
1: 73,959,722 (GRCm39) |
I418N |
probably damaging |
Het |
Txlna |
A |
T |
4: 129,522,984 (GRCm39) |
V452D |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
Zfp764l1 |
A |
T |
7: 126,991,504 (GRCm39) |
I161N |
possibly damaging |
Het |
|
Other mutations in Klhdc8b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Klhdc8b
|
APN |
9 |
108,326,105 (GRCm39) |
missense |
probably benign |
0.41 |
R0537:Klhdc8b
|
UTSW |
9 |
108,326,422 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1080:Klhdc8b
|
UTSW |
9 |
108,326,837 (GRCm39) |
missense |
probably benign |
0.29 |
R1595:Klhdc8b
|
UTSW |
9 |
108,328,362 (GRCm39) |
missense |
probably damaging |
0.99 |
R4976:Klhdc8b
|
UTSW |
9 |
108,328,386 (GRCm39) |
missense |
probably damaging |
1.00 |
R5024:Klhdc8b
|
UTSW |
9 |
108,326,184 (GRCm39) |
intron |
probably benign |
|
R5056:Klhdc8b
|
UTSW |
9 |
108,326,184 (GRCm39) |
intron |
probably benign |
|
R5327:Klhdc8b
|
UTSW |
9 |
108,326,241 (GRCm39) |
intron |
probably benign |
|
R5819:Klhdc8b
|
UTSW |
9 |
108,328,261 (GRCm39) |
missense |
probably benign |
0.20 |
R6265:Klhdc8b
|
UTSW |
9 |
108,325,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R7420:Klhdc8b
|
UTSW |
9 |
108,326,317 (GRCm39) |
missense |
possibly damaging |
0.59 |
R8871:Klhdc8b
|
UTSW |
9 |
108,326,871 (GRCm39) |
missense |
probably damaging |
0.99 |
R9139:Klhdc8b
|
UTSW |
9 |
108,326,927 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Klhdc8b
|
UTSW |
9 |
108,325,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACACAGACATATGCAGATGCAAG -3'
(R):5'- GCCCAACTGGGGTTGGAAAATCAC -3'
Sequencing Primer
(F):5'- acgcacgcacTCCCTTC -3'
(R):5'- CATGGTTACTCCATGAGCAGG -3'
|
Posted On |
2013-06-11 |