Incidental Mutation 'R6428:Klhdc10'
| ID |
518390 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc10
|
| Ensembl Gene |
ENSMUSG00000029775 |
| Gene Name |
kelch domain containing 10 |
| Synonyms |
2410127E18Rik |
| MMRRC Submission |
044421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R6428 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
30401867-30455178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30439855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 13
(S13P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068240]
[ENSMUST00000068259]
[ENSMUST00000123494]
[ENSMUST00000132581]
[ENSMUST00000135566]
[ENSMUST00000144272]
|
| AlphaFold |
Q6PAR0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068240
AA Change: S124P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: S124P
| 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: S153P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: S153P
| 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 damaging
Transcript: ENSMUST00000123494
AA Change: S13P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775
AA Change: S13P
| 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 |
silent
Transcript: ENSMUST00000132581
|
| SMART Domains |
Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
| 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: ENSMUST00000135566
AA Change: S13P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144878
Gene: ENSMUSG00000029775
AA Change: S13P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:Kelch
|
1 |
21 |
4e-6 |
BLAST |
|
SCOP:d1k3ia3
|
7 |
51 |
1e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144272
AA Change: S13P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: S13P
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
G |
13: 61,344,237 (GRCm39) |
N272H |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,332,324 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,359,167 (GRCm39) |
D175G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,488,508 (GRCm39) |
K3600E |
possibly damaging |
Het |
| Hspa13 |
A |
T |
16: 75,554,874 (GRCm39) |
L404Q |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,219,343 (GRCm39) |
D475G |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,637,295 (GRCm39) |
T728I |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,963,960 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC |
CATCTTTACCATCATGTCAAGTATCTTTACC |
X: 70,983,126 (GRCm39) |
|
probably benign |
Homo |
| Phb2 |
A |
G |
6: 124,692,954 (GRCm39) |
D276G |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,116,508 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,100 (GRCm39) |
K604R |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,269,838 (GRCm39) |
M1808K |
possibly damaging |
Het |
| Setd3 |
T |
C |
12: 108,079,597 (GRCm39) |
D302G |
probably damaging |
Het |
| Slc38a10 |
T |
A |
11: 119,996,298 (GRCm39) |
Q933L |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,871,416 (GRCm39) |
L250S |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,003,039 (GRCm39) |
I150V |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,710,262 (GRCm39) |
R662C |
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 |
|
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'- TCTTTAGGCCACAGACCTCC -3'
(R):5'- AACGCAGCGATTCAGAGTCATTAC -3'
Sequencing Primer
(F):5'- CACCGTTGTGTGGCAGACAATAC -3'
(R):5'- CATTACACTGTATTATCACCACAGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation