Incidental Mutation 'IGL00501:Klhdc8b'
| ID |
6138 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhdc8b
|
| Ensembl Gene |
ENSMUSG00000032609 |
| Gene Name |
kelch domain containing 8B |
| Synonyms |
4931406O17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
IGL00501
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
108324835-108338780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108326105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 263
(R263H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035232]
[ENSMUST00000057265]
[ENSMUST00000193286]
[ENSMUST00000193895]
[ENSMUST00000195435]
|
| AlphaFold |
Q9D2D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035232
AA Change: R263H
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: R263H
| 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 |
probably benign
Transcript: ENSMUST00000193286
AA Change: R263H
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: R263H
| 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: ENSMUST00000193895
AA Change: R263H
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: R263H
| 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: ENSMUST00000195435
AA Change: R217H
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609
AA Change: R217H
| 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: ENSMUST00000194559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193911
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,493,895 (GRCm39) |
I409V |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,335,192 (GRCm39) |
N26S |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,760,806 (GRCm39) |
A834T |
possibly damaging |
Het |
| Agpat5 |
T |
C |
8: 18,926,148 (GRCm39) |
|
probably null |
Het |
| Ano8 |
A |
C |
8: 71,931,793 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
A |
10: 127,950,494 (GRCm39) |
M476K |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,869 (GRCm39) |
A311V |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,988,345 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,910,195 (GRCm39) |
I113N |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,094 (GRCm39) |
T146A |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,826,288 (GRCm39) |
M434L |
probably damaging |
Het |
| Gba2 |
G |
A |
4: 43,568,477 (GRCm39) |
A663V |
probably damaging |
Het |
| Gja10 |
T |
C |
4: 32,601,230 (GRCm39) |
T385A |
possibly damaging |
Het |
| Gm42878 |
A |
C |
5: 121,671,406 (GRCm39) |
I209R |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,457,835 (GRCm39) |
V245E |
probably damaging |
Het |
| H2az1 |
T |
C |
3: 137,571,357 (GRCm39) |
V53A |
probably damaging |
Het |
| Hycc1 |
A |
G |
5: 24,190,843 (GRCm39) |
|
probably benign |
Het |
| Kctd16 |
G |
A |
18: 40,390,440 (GRCm39) |
|
probably benign |
Het |
| Lcn8 |
T |
C |
2: 25,545,119 (GRCm39) |
|
probably benign |
Het |
| Ldlr |
T |
C |
9: 21,646,657 (GRCm39) |
|
probably null |
Het |
| Lrrc40 |
T |
C |
3: 157,766,919 (GRCm39) |
F458S |
probably damaging |
Het |
| Lypla1 |
T |
A |
1: 4,898,810 (GRCm39) |
H35Q |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,494,638 (GRCm39) |
T273I |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,185,356 (GRCm39) |
F959L |
probably benign |
Het |
| Nedd4l |
A |
T |
18: 65,341,163 (GRCm39) |
D704V |
probably damaging |
Het |
| Peak1 |
C |
T |
9: 56,134,610 (GRCm39) |
E1274K |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,378,858 (GRCm39) |
|
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,359,558 (GRCm39) |
N40K |
probably damaging |
Het |
| Serpinb1c |
T |
C |
13: 33,067,958 (GRCm39) |
K213E |
probably damaging |
Het |
| Spink5 |
A |
G |
18: 44,110,806 (GRCm39) |
T126A |
probably damaging |
Het |
| Tanc2 |
T |
C |
11: 105,814,046 (GRCm39) |
V1830A |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,763 (GRCm39) |
I433T |
probably damaging |
Het |
| Trim10 |
G |
A |
17: 37,187,939 (GRCm39) |
R385K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,965,606 (GRCm39) |
I339V |
possibly damaging |
Het |
|
| Other mutations in Klhdc8b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0537:Klhdc8b
|
UTSW |
9 |
108,326,422 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0552: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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation