Incidental Mutation 'R1080:Klhdc8b'
| ID |
85830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc8b
|
| Ensembl Gene |
ENSMUSG00000032609 |
| Gene Name |
kelch domain containing 8B |
| Synonyms |
4931406O17Rik |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108324835-108338780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108326837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 175
(N175S)
|
| 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: N175S
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: N175S
| 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: N175S
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: N175S
| 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: N175S
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: N175S
| 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 |
noncoding transcript
Transcript: ENSMUST00000194559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194633
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195435
|
| SMART Domains |
Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Nkd1 |
T |
A |
8: 89,318,647 (GRCm39) |
M428K |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
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 |
|
R0552:Klhdc8b
|
UTSW |
9 |
108,326,422 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- GCACTGAATGTGATTTTCCAACCCC -3'
(R):5'- TCCTAGCTCCAACTTCAGACAGGC -3'
Sequencing Primer
(F):5'- CAGTTGGGCCACCAAGGAG -3'
(R):5'- GATAAACACAAGGGTTTCCTTCC -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation