Incidental Mutation 'R5819:Klhdc8b'
| ID |
449230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc8b
|
| Ensembl Gene |
ENSMUSG00000032609 |
| Gene Name |
kelch domain containing 8B |
| Synonyms |
4931406O17Rik |
| MMRRC Submission |
043399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R5819 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
108324835-108338780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108328261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 64
(P64S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035232]
[ENSMUST00000057265]
[ENSMUST00000193895]
[ENSMUST00000193286]
[ENSMUST00000195435]
|
| AlphaFold |
Q9D2D9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035232
AA Change: P64S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035232
Gene: ENSMUSG00000032609
AA Change: P64S
| 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: ENSMUST00000192196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192210
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192245
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193895
AA Change: P64S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
AA Change: P64S
| 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: ENSMUST00000193286
AA Change: P64S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
AA Change: P64S
| 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: P64S
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000141558
Gene: ENSMUSG00000032609
AA Change: P64S
| 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: ENSMUST00000193331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193911
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
| Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,621,701 (GRCm39) |
H420L |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
| Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
| Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
| Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
| Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
| Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,073,269 (GRCm39) |
M854L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
| Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
| Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
| Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
| Rgl3 |
A |
T |
9: 21,892,898 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
| Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,966 (GRCm39) |
M244L |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,014,522 (GRCm39) |
E395K |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
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 |
|
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 |
|
|
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'- GGGATGTTCTAAGCCACTCAC -3'
(R):5'- TGAGCAGATACTATGGCCTACC -3'
Sequencing Primer
(F):5'- GGATGTTCTAAGCCACTCACCTCTC -3'
(R):5'- TGAGCGAGTACCATGGCTG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation