Incidental Mutation 'R6851:Klhdc3'
| ID |
534991 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhdc3
|
| Ensembl Gene |
ENSMUSG00000063576 |
| Gene Name |
kelch domain containing 3 |
| Synonyms |
Peas, 1300011D16Rik |
| MMRRC Submission |
044955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.909)
|
| Stock # |
R6851 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46985476-46991840 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46989218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 48
(I48N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002839]
[ENSMUST00000002845]
[ENSMUST00000024766]
[ENSMUST00000071841]
[ENSMUST00000165007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002839
|
| SMART Domains |
Protein: ENSMUSP00000002839
Gene: ENSMUSG00000059409
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
59 |
N/A |
INTRINSIC |
|
Pfam:B56
|
95 |
505 |
6.2e-201 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002845
|
| SMART Domains |
Protein: ENSMUSP00000002845
Gene: ENSMUSG00000002768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MEA1
|
1 |
174 |
1.6e-121 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024766
|
| SMART Domains |
Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF947
|
55 |
219 |
7.6e-53 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071841
AA Change: I48N
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
AA Change: I48N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
1.6e-8 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_4
|
13 |
65 |
3.8e-8 |
PFAM |
|
Pfam:Kelch_6
|
13 |
67 |
9.6e-11 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3.1e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
117 |
1.9e-7 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.7e-9 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
77 |
125 |
4.6e-11 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
1.3e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
172 |
1.5e-10 |
PFAM |
|
Pfam:Kelch_6
|
127 |
173 |
2e-10 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.3e-10 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_1
|
180 |
233 |
5.8e-9 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
7.3e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
1.2e-11 |
PFAM |
|
Pfam:Kelch_1
|
238 |
284 |
2.7e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.4e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
4.2e-10 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165007
AA Change: I48N
PolyPhen 2
Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
AA Change: I48N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
9.9e-10 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_6
|
13 |
66 |
7.5e-11 |
PFAM |
|
Pfam:Kelch_4
|
13 |
71 |
1.4e-8 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
118 |
2.6e-8 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.1e-10 |
PFAM |
|
Pfam:Kelch_4
|
76 |
126 |
2e-11 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
7.7e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
170 |
1.2e-8 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_6
|
179 |
239 |
2.5e-9 |
PFAM |
|
Pfam:Kelch_1
|
180 |
232 |
3.4e-8 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
5.7e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
4.3e-10 |
PFAM |
|
Pfam:Kelch_1
|
238 |
285 |
9.3e-10 |
PFAM |
|
Pfam:Kelch_4
|
238 |
291 |
9.9e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.5e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
1.1e-9 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7405 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains six repeated kelch motifs that are structurally similar to recombination activating gene 2, a protein involved in the activation of the V(D)J recombination. In mouse, this gene is found to be expressed specifically in testis. Its expression in pachytene spermatocytes is localized to cytoplasma and meiotic chromatin, suggesting that this gene may be involved in meiotic recombination. [provided by RefSeq, Jun 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,623,345 (GRCm39) |
C856S |
probably benign |
Het |
| Arrdc2 |
T |
C |
8: 71,291,369 (GRCm39) |
E153G |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,764,739 (GRCm39) |
D2033G |
probably damaging |
Het |
| Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
| Cracr2a |
A |
T |
6: 127,585,679 (GRCm39) |
D159V |
probably damaging |
Het |
| Defa35 |
T |
C |
8: 21,555,146 (GRCm39) |
I22T |
possibly damaging |
Het |
| Dgke |
T |
C |
11: 88,943,309 (GRCm39) |
T227A |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,896,521 (GRCm39) |
R4290K |
probably benign |
Het |
| Firrm |
G |
A |
1: 163,792,336 (GRCm39) |
R554C |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,656,458 (GRCm39) |
R214Q |
probably damaging |
Het |
| Gpr180 |
T |
C |
14: 118,391,037 (GRCm39) |
Y189H |
probably damaging |
Het |
| Hadh |
A |
G |
3: 131,065,620 (GRCm39) |
S13P |
possibly damaging |
Het |
| Hcn2 |
T |
A |
10: 79,564,947 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
T |
C |
11: 58,110,641 (GRCm39) |
S123P |
possibly damaging |
Het |
| Kcnv1 |
T |
A |
15: 44,972,594 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif13b |
G |
A |
14: 65,010,514 (GRCm39) |
C1271Y |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,841 (GRCm39) |
W1182R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,497,630 (GRCm39) |
|
probably null |
Het |
| Or12e1 |
T |
A |
2: 87,022,813 (GRCm39) |
S261T |
probably benign |
Het |
| Or1j11 |
T |
A |
2: 36,311,832 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8b51 |
A |
G |
9: 38,569,481 (GRCm39) |
V69A |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,611 (GRCm39) |
T64A |
possibly damaging |
Het |
| Or9m1b |
T |
A |
2: 87,836,300 (GRCm39) |
H265L |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,479 (GRCm39) |
Y295* |
probably null |
Het |
| Pex5 |
A |
G |
6: 124,380,113 (GRCm39) |
S275P |
possibly damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Sele |
G |
T |
1: 163,881,521 (GRCm39) |
G543C |
probably damaging |
Het |
| Serpina3k |
A |
C |
12: 104,311,625 (GRCm39) |
Y401S |
probably benign |
Het |
| Slc13a4 |
A |
G |
6: 35,278,668 (GRCm39) |
S74P |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,851,725 (GRCm39) |
L114P |
unknown |
Het |
| Syne1 |
G |
T |
10: 5,212,703 (GRCm39) |
C3295* |
probably null |
Het |
| Tepsin |
G |
T |
11: 119,987,787 (GRCm39) |
H44N |
probably damaging |
Het |
| Tpp1 |
A |
T |
7: 105,398,919 (GRCm39) |
V170E |
probably damaging |
Het |
| Trav3-1 |
T |
C |
14: 52,818,428 (GRCm39) |
V34A |
probably damaging |
Het |
| Tsbp1 |
A |
T |
17: 34,679,146 (GRCm39) |
Y303F |
possibly damaging |
Het |
| Ush2a |
T |
C |
1: 188,265,402 (GRCm39) |
V1642A |
probably benign |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,845 (GRCm39) |
I70T |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,800 (GRCm39) |
M237V |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,862,587 (GRCm39) |
E802G |
probably benign |
Het |
| Zan |
G |
A |
5: 137,394,453 (GRCm39) |
T4462I |
unknown |
Het |
|
| Other mutations in Klhdc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02491:Klhdc3
|
APN |
17 |
46,988,226 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
pinto
|
UTSW |
17 |
46,988,972 (GRCm39) |
missense |
probably benign |
0.36 |
|
shetland
|
UTSW |
17 |
46,989,218 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0667:Klhdc3
|
UTSW |
17 |
46,988,151 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0960:Klhdc3
|
UTSW |
17 |
46,987,444 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1254:Klhdc3
|
UTSW |
17 |
46,988,993 (GRCm39) |
missense |
probably benign |
|
|
R1263:Klhdc3
|
UTSW |
17 |
46,987,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1954:Klhdc3
|
UTSW |
17 |
46,988,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Klhdc3
|
UTSW |
17 |
46,988,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3808:Klhdc3
|
UTSW |
17 |
46,988,858 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3809:Klhdc3
|
UTSW |
17 |
46,988,858 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4409:Klhdc3
|
UTSW |
17 |
46,987,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Klhdc3
|
UTSW |
17 |
46,988,226 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5807:Klhdc3
|
UTSW |
17 |
46,988,391 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5958:Klhdc3
|
UTSW |
17 |
46,986,028 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6152:Klhdc3
|
UTSW |
17 |
46,988,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6295:Klhdc3
|
UTSW |
17 |
46,988,972 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6521:Klhdc3
|
UTSW |
17 |
46,988,687 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7524:Klhdc3
|
UTSW |
17 |
46,989,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8790:Klhdc3
|
UTSW |
17 |
46,991,626 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1177:Klhdc3
|
UTSW |
17 |
46,987,677 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATACAGCTCTCCTCAGC -3'
(R):5'- TGGCACCGATTTGTGTACAG -3'
Sequencing Primer
(F):5'- TCTCCTCAGCCCTGGGAAC -3'
(R):5'- CACCGATTTGTGTACAGGTAGCAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation