Incidental Mutation 'R2243:Klhdc10'
| ID |
240720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc10
|
| Ensembl Gene |
ENSMUSG00000029775 |
| Gene Name |
kelch domain containing 10 |
| Synonyms |
2410127E18Rik |
| MMRRC Submission |
040243-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R2243 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30401867-30455178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30449558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 207
(T207A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068240]
[ENSMUST00000068259]
[ENSMUST00000123494]
[ENSMUST00000132581]
[ENSMUST00000144272]
|
| AlphaFold |
Q6PAR0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068240
AA Change: T318A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: T318A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
|
Pfam:Kelch_5
|
56 |
107 |
3.6e-7 |
PFAM |
|
Pfam:Kelch_1
|
59 |
114 |
5.6e-8 |
PFAM |
|
Pfam:Kelch_4
|
59 |
120 |
1.8e-7 |
PFAM |
|
Pfam:Kelch_6
|
59 |
120 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
173 |
222 |
9.8e-9 |
PFAM |
|
Pfam:Kelch_6
|
173 |
225 |
3.9e-9 |
PFAM |
|
Pfam:Kelch_2
|
174 |
218 |
1.2e-7 |
PFAM |
|
Pfam:Kelch_1
|
174 |
219 |
9.4e-8 |
PFAM |
|
Kelch
|
239 |
294 |
4.93e0 |
SMART |
|
Kelch
|
295 |
342 |
9.96e-4 |
SMART |
|
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068259
AA Change: T347A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: T347A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
35 |
N/A |
INTRINSIC |
|
Pfam:Kelch_5
|
85 |
135 |
1.2e-7 |
PFAM |
|
Pfam:Kelch_1
|
88 |
143 |
2.6e-8 |
PFAM |
|
Pfam:Kelch_4
|
88 |
149 |
1.5e-6 |
PFAM |
|
Pfam:Kelch_6
|
88 |
150 |
3.1e-8 |
PFAM |
|
Pfam:Kelch_6
|
202 |
255 |
4.6e-9 |
PFAM |
|
Pfam:Kelch_2
|
203 |
247 |
1.4e-7 |
PFAM |
|
Pfam:Kelch_1
|
203 |
248 |
2.6e-6 |
PFAM |
|
Kelch
|
268 |
323 |
4.93e0 |
SMART |
|
Kelch
|
324 |
371 |
9.96e-4 |
SMART |
|
low complexity region
|
402 |
413 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123494
|
| SMART Domains |
Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_4
|
62 |
110 |
1.2e-4 |
PFAM |
|
Pfam:Kelch_6
|
62 |
115 |
5.2e-8 |
PFAM |
|
Pfam:Kelch_2
|
63 |
107 |
1.6e-6 |
PFAM |
|
Pfam:Kelch_1
|
63 |
108 |
3.1e-5 |
PFAM |
|
Pfam:Kelch_1
|
116 |
157 |
2.1e-6 |
PFAM |
|
Pfam:Kelch_6
|
116 |
157 |
8.8e-6 |
PFAM |
|
Pfam:Kelch_4
|
122 |
157 |
3.7e-4 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132581
AA Change: T265A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: T265A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
35 |
N/A |
INTRINSIC |
|
Pfam:Kelch_2
|
121 |
165 |
1.1e-6 |
PFAM |
|
Pfam:Kelch_6
|
121 |
173 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_1
|
123 |
166 |
2.1e-5 |
PFAM |
|
Pfam:Kelch_4
|
123 |
168 |
9.8e-5 |
PFAM |
|
Kelch
|
186 |
241 |
1.7e-2 |
SMART |
|
Kelch
|
242 |
289 |
3.3e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144272
AA Change: T207A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: T207A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_4
|
62 |
110 |
3.5e-4 |
PFAM |
|
Pfam:Kelch_6
|
62 |
115 |
1.6e-7 |
PFAM |
|
Pfam:Kelch_2
|
63 |
107 |
4.8e-6 |
PFAM |
|
Pfam:Kelch_1
|
63 |
108 |
9.1e-5 |
PFAM |
|
Kelch
|
128 |
183 |
1.7e-2 |
SMART |
|
Kelch
|
184 |
231 |
3.3e-6 |
SMART |
|
low complexity region
|
262 |
273 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150854
|
| Meta Mutation Damage Score |
0.2994 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
G |
A |
4: 144,503,991 (GRCm39) |
R387C |
probably benign |
Het |
| Agbl1 |
A |
T |
7: 76,068,470 (GRCm39) |
E93D |
possibly damaging |
Het |
| Akap10 |
C |
A |
11: 61,806,327 (GRCm39) |
V134F |
possibly damaging |
Het |
| Bnc1 |
T |
C |
7: 81,623,821 (GRCm39) |
I469V |
possibly damaging |
Het |
| Bod1l |
T |
A |
5: 41,978,888 (GRCm39) |
I809L |
possibly damaging |
Het |
| Dicer1 |
T |
A |
12: 104,696,447 (GRCm39) |
E118V |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,648,292 (GRCm39) |
F274S |
probably benign |
Het |
| Dnaaf2 |
T |
G |
12: 69,243,418 (GRCm39) |
T548P |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Fchsd2 |
A |
G |
7: 100,883,092 (GRCm39) |
N240S |
probably benign |
Het |
| Foxb1 |
T |
C |
9: 69,667,146 (GRCm39) |
Y128C |
probably damaging |
Het |
| Fxr2 |
A |
T |
11: 69,532,896 (GRCm39) |
K158M |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,385,972 (GRCm39) |
D1031E |
probably benign |
Het |
| Hbb-bs |
T |
C |
7: 103,477,018 (GRCm39) |
D22G |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,001 (GRCm39) |
M119K |
probably benign |
Het |
| Kif18a |
C |
A |
2: 109,128,452 (GRCm39) |
H369Q |
probably damaging |
Het |
| Lig4 |
A |
G |
8: 10,022,161 (GRCm39) |
C540R |
possibly damaging |
Het |
| Lilrb4b |
A |
T |
10: 51,357,704 (GRCm39) |
N133Y |
possibly damaging |
Het |
| Lrrc31 |
T |
A |
3: 30,739,179 (GRCm39) |
|
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myof |
C |
T |
19: 37,889,767 (GRCm39) |
R2009H |
probably damaging |
Het |
| Nlrp2 |
C |
T |
7: 5,338,597 (GRCm39) |
V99I |
probably benign |
Het |
| Or2w3b |
G |
A |
11: 58,623,271 (GRCm39) |
T240M |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 81,965,479 (GRCm39) |
S549P |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,323 (GRCm39) |
F2610S |
probably damaging |
Het |
| S100a14 |
A |
G |
3: 90,435,114 (GRCm39) |
T42A |
possibly damaging |
Het |
| Serpina6 |
T |
A |
12: 103,613,187 (GRCm39) |
Y371F |
probably benign |
Het |
| Slc43a3 |
T |
C |
2: 84,778,782 (GRCm39) |
|
probably benign |
Het |
| Taldo1 |
C |
A |
7: 140,972,217 (GRCm39) |
T28K |
probably damaging |
Het |
| Tatdn3 |
T |
C |
1: 190,785,097 (GRCm39) |
Y184C |
probably damaging |
Het |
| Tep1 |
G |
C |
14: 51,091,667 (GRCm39) |
R625G |
probably benign |
Het |
| Timm44 |
A |
T |
8: 4,317,871 (GRCm39) |
I179N |
possibly damaging |
Het |
| Uimc1 |
A |
T |
13: 55,198,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r68 |
A |
T |
7: 10,262,089 (GRCm39) |
V3E |
probably damaging |
Het |
| Zer1 |
A |
T |
2: 29,991,139 (GRCm39) |
F683L |
probably damaging |
Het |
|
| Other mutations in Klhdc10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Klhdc10
|
APN |
6 |
30,441,933 (GRCm39) |
splice site |
probably null |
|
|
IGL02313:Klhdc10
|
APN |
6 |
30,439,865 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03353:Klhdc10
|
APN |
6 |
30,447,991 (GRCm39) |
splice site |
probably benign |
|
|
PIT4378001:Klhdc10
|
UTSW |
6 |
30,447,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0379:Klhdc10
|
UTSW |
6 |
30,450,669 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0390:Klhdc10
|
UTSW |
6 |
30,447,411 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1199:Klhdc10
|
UTSW |
6 |
30,449,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Klhdc10
|
UTSW |
6 |
30,444,461 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2861:Klhdc10
|
UTSW |
6 |
30,402,139 (GRCm39) |
missense |
unknown |
|
|
R5007:Klhdc10
|
UTSW |
6 |
30,450,640 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5574:Klhdc10
|
UTSW |
6 |
30,439,864 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6428:Klhdc10
|
UTSW |
6 |
30,439,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Klhdc10
|
UTSW |
6 |
30,446,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6842:Klhdc10
|
UTSW |
6 |
30,439,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6879:Klhdc10
|
UTSW |
6 |
30,449,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Klhdc10
|
UTSW |
6 |
30,450,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Klhdc10
|
UTSW |
6 |
30,441,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Klhdc10
|
UTSW |
6 |
30,447,989 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7988:Klhdc10
|
UTSW |
6 |
30,446,690 (GRCm39) |
missense |
probably benign |
|
|
R9192:Klhdc10
|
UTSW |
6 |
30,449,499 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9747:Klhdc10
|
UTSW |
6 |
30,439,859 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATGTCCCAGGTGTGTTG -3'
(R):5'- AAGGGTGACATCATTCTGCTCTC -3'
Sequencing Primer
(F):5'- CAGGTGTGTTGTGGAATGACCC -3'
(R):5'- AAACTTGGATGTGACTGTGTTTCCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation