Incidental Mutation 'R6879:Klhdc10'
| ID |
536552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc10
|
| Ensembl Gene |
ENSMUSG00000029775 |
| Gene Name |
kelch domain containing 10 |
| Synonyms |
2410127E18Rik |
| MMRRC Submission |
044975-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R6879 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30401867-30455178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 30449589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 217
(M217K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068240]
[ENSMUST00000068259]
[ENSMUST00000123494]
[ENSMUST00000132581]
[ENSMUST00000144272]
|
| AlphaFold |
Q6PAR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068240
AA Change: M328K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: M328K
| 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: M357K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: M357K
| 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: M275K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: M275K
| 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: M217K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: M217K
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat3 |
A |
G |
10: 80,442,621 (GRCm39) |
D153G |
probably damaging |
Het |
| Agap1 |
A |
T |
1: 89,694,177 (GRCm39) |
I492F |
probably benign |
Het |
| Arhgap31 |
G |
A |
16: 38,422,676 (GRCm39) |
T1130I |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,301,882 (GRCm39) |
C923S |
possibly damaging |
Het |
| B3gnt8 |
C |
A |
7: 25,328,277 (GRCm39) |
Q236K |
probably benign |
Het |
| Bptf |
T |
G |
11: 106,933,516 (GRCm39) |
I261L |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,043,697 (GRCm39) |
F1592S |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,926,338 (GRCm39) |
T335S |
possibly damaging |
Het |
| Cops7a |
A |
T |
6: 124,935,748 (GRCm39) |
|
probably null |
Het |
| Defb10 |
A |
G |
8: 22,351,898 (GRCm39) |
I48V |
probably benign |
Het |
| Gabrg3 |
A |
C |
7: 57,031,387 (GRCm39) |
L51R |
probably damaging |
Het |
| Gins2 |
G |
A |
8: 121,312,850 (GRCm39) |
T96M |
probably damaging |
Het |
| Gm11568 |
A |
G |
11: 99,749,053 (GRCm39) |
Q86R |
unknown |
Het |
| Il33 |
T |
C |
19: 29,936,362 (GRCm39) |
V224A |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,136,048 (GRCm39) |
Q682K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,672,159 (GRCm39) |
I249V |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,144,087 (GRCm39) |
V1447A |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,945,179 (GRCm39) |
S18G |
unknown |
Het |
| Mical1 |
A |
T |
10: 41,360,515 (GRCm39) |
Q651H |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,266,893 (GRCm39) |
T340I |
possibly damaging |
Het |
| Or5b95 |
T |
C |
19: 12,658,135 (GRCm39) |
I221T |
probably benign |
Het |
| Or6c202 |
T |
G |
10: 128,996,848 (GRCm39) |
K2Q |
probably benign |
Het |
| Pira12 |
A |
T |
7: 3,899,961 (GRCm39) |
S214T |
probably benign |
Het |
| Plekha6 |
A |
T |
1: 133,187,793 (GRCm39) |
M105L |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,518,179 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,521,826 (GRCm39) |
N128S |
probably benign |
Het |
| Six6 |
A |
G |
12: 72,987,298 (GRCm39) |
K157E |
probably benign |
Het |
| Slc13a3 |
C |
A |
2: 165,272,221 (GRCm39) |
G274V |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,020,150 (GRCm39) |
V388E |
possibly damaging |
Het |
| Smad2 |
A |
G |
18: 76,395,725 (GRCm39) |
T55A |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spats2 |
T |
C |
15: 99,071,293 (GRCm39) |
V39A |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,647,867 (GRCm39) |
I167T |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,550,516 (GRCm39) |
C34S |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,424,836 (GRCm39) |
E812G |
unknown |
Het |
| Tlcd2 |
T |
A |
11: 75,360,514 (GRCm39) |
W186R |
probably damaging |
Het |
| Txn2 |
G |
A |
15: 77,803,922 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,239,271 (GRCm39) |
K1387R |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,115,046 (GRCm39) |
|
probably null |
Het |
| Usp21 |
T |
C |
1: 171,110,077 (GRCm39) |
D538G |
probably damaging |
Het |
| Zfp109 |
C |
T |
7: 23,928,615 (GRCm39) |
E265K |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,567,719 (GRCm39) |
H390R |
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 |
|
R2243:Klhdc10
|
UTSW |
6 |
30,449,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAGGTGTGTTGTGGAATGACCC -3'
(R):5'- CAAAGGGTGACATCATTCTGCTC -3'
Sequencing Primer
(F):5'- CACCTGTCAGCTATCACGTG -3'
(R):5'- GGTGACATCATTCTGCTCTCTAATAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation