Incidental Mutation 'R4428:Klhdc1'
ID |
328287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhdc1
|
Ensembl Gene |
ENSMUSG00000051890 |
Gene Name |
kelch domain containing 1 |
Synonyms |
|
MMRRC Submission |
041698-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4428 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
69287950-69331406 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to A
at 69315000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134180
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063445]
[ENSMUST00000173419]
|
AlphaFold |
Q80YG3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000063445
|
SMART Domains |
Protein: ENSMUSP00000068046 Gene: ENSMUSG00000051890
Domain | Start | End | E-Value | Type |
Pfam:Kelch_5
|
11 |
54 |
4.4e-11 |
PFAM |
Pfam:Kelch_4
|
67 |
122 |
4.4e-7 |
PFAM |
Pfam:Kelch_6
|
67 |
124 |
1.7e-7 |
PFAM |
Pfam:Kelch_3
|
79 |
125 |
1.8e-8 |
PFAM |
Pfam:Kelch_3
|
170 |
205 |
2.5e-7 |
PFAM |
Pfam:Kelch_2
|
196 |
235 |
2.8e-8 |
PFAM |
Pfam:Kelch_1
|
196 |
236 |
1.4e-6 |
PFAM |
Pfam:Kelch_4
|
196 |
245 |
5.5e-7 |
PFAM |
Pfam:Kelch_3
|
206 |
256 |
3.9e-8 |
PFAM |
Pfam:Kelch_4
|
247 |
295 |
5.3e-10 |
PFAM |
Pfam:Kelch_3
|
258 |
307 |
1.7e-7 |
PFAM |
low complexity region
|
364 |
376 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124326
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173419
|
SMART Domains |
Protein: ENSMUSP00000134180 Gene: ENSMUSG00000051890
Domain | Start | End | E-Value | Type |
Pfam:Kelch_5
|
11 |
54 |
4.7e-11 |
PFAM |
Pfam:Kelch_4
|
67 |
123 |
1.7e-8 |
PFAM |
Pfam:Kelch_6
|
67 |
124 |
5.6e-8 |
PFAM |
Pfam:Kelch_1
|
68 |
116 |
3.2e-6 |
PFAM |
Pfam:Kelch_3
|
78 |
126 |
3.1e-9 |
PFAM |
Pfam:Kelch_3
|
165 |
205 |
2.8e-8 |
PFAM |
Pfam:Kelch_5
|
193 |
237 |
2.7e-6 |
PFAM |
Pfam:Kelch_2
|
196 |
235 |
1.8e-8 |
PFAM |
Pfam:Kelch_6
|
196 |
237 |
2.6e-8 |
PFAM |
Pfam:Kelch_4
|
196 |
245 |
2e-7 |
PFAM |
Pfam:Kelch_3
|
206 |
256 |
2.1e-7 |
PFAM |
Pfam:Kelch_5
|
245 |
285 |
2.4e-6 |
PFAM |
Pfam:Kelch_4
|
247 |
299 |
3.5e-11 |
PFAM |
Pfam:Kelch_6
|
247 |
299 |
3.2e-8 |
PFAM |
Pfam:Kelch_3
|
258 |
301 |
1.2e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Abcc1 |
T |
A |
16: 14,263,164 (GRCm39) |
V708E |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc18 |
A |
G |
5: 108,283,943 (GRCm39) |
Y82C |
probably benign |
Het |
Cd82 |
T |
C |
2: 93,250,214 (GRCm39) |
Y266C |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Cmpk1 |
T |
C |
4: 114,820,559 (GRCm39) |
E180G |
probably benign |
Het |
Dock8 |
T |
C |
19: 25,177,863 (GRCm39) |
I2066T |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fgf3 |
T |
C |
7: 144,394,444 (GRCm39) |
V86A |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,561,759 (GRCm39) |
I916T |
probably benign |
Het |
Gsk3b |
T |
A |
16: 38,014,298 (GRCm39) |
L252Q |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,118,466 (GRCm39) |
T94A |
probably damaging |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,055 (GRCm39) |
D701G |
possibly damaging |
Het |
Mbd5 |
A |
T |
2: 49,169,776 (GRCm39) |
Q47L |
possibly damaging |
Het |
Nrcam |
A |
G |
12: 44,623,558 (GRCm39) |
D1049G |
possibly damaging |
Het |
Olfml2a |
G |
T |
2: 38,831,755 (GRCm39) |
M111I |
probably damaging |
Het |
Or3a1c |
T |
C |
11: 74,046,025 (GRCm39) |
F15S |
probably damaging |
Het |
Pld2 |
A |
T |
11: 70,432,160 (GRCm39) |
H93L |
probably damaging |
Het |
Pomgnt2 |
T |
C |
9: 121,811,320 (GRCm39) |
E487G |
possibly damaging |
Het |
Psg17 |
G |
T |
7: 18,550,717 (GRCm39) |
N379K |
probably benign |
Het |
Rfk |
T |
A |
19: 17,375,959 (GRCm39) |
H84Q |
possibly damaging |
Het |
Scn8a |
A |
G |
15: 100,881,784 (GRCm39) |
Y617C |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,498,087 (GRCm39) |
F31S |
probably benign |
Het |
Shq1 |
T |
C |
6: 100,647,889 (GRCm39) |
Y45C |
probably damaging |
Het |
Siglecg |
C |
T |
7: 43,067,350 (GRCm39) |
P639L |
possibly damaging |
Het |
Skp2 |
A |
T |
15: 9,117,034 (GRCm39) |
N325K |
probably benign |
Het |
Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,938 (GRCm39) |
S264R |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,220,230 (GRCm39) |
|
probably benign |
Het |
Tardbp |
A |
G |
4: 148,709,659 (GRCm39) |
V54A |
possibly damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Tmem68 |
A |
T |
4: 3,569,534 (GRCm39) |
I52K |
probably benign |
Het |
Trhde |
A |
T |
10: 114,339,028 (GRCm39) |
L594Q |
probably damaging |
Het |
Umps |
A |
C |
16: 33,781,956 (GRCm39) |
V322G |
probably damaging |
Het |
Vmn2r109 |
T |
C |
17: 20,773,286 (GRCm39) |
D445G |
probably benign |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,322,590 (GRCm39) |
G43E |
probably damaging |
Het |
|
Other mutations in Klhdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Klhdc1
|
APN |
12 |
69,288,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL01432:Klhdc1
|
APN |
12 |
69,298,751 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02086:Klhdc1
|
APN |
12 |
69,329,958 (GRCm39) |
missense |
probably benign |
0.18 |
IGL02212:Klhdc1
|
APN |
12 |
69,297,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02548:Klhdc1
|
APN |
12 |
69,300,492 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02861:Klhdc1
|
APN |
12 |
69,298,225 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0446:Klhdc1
|
UTSW |
12 |
69,330,082 (GRCm39) |
missense |
probably benign |
|
R0656:Klhdc1
|
UTSW |
12 |
69,304,804 (GRCm39) |
missense |
probably benign |
|
R1528:Klhdc1
|
UTSW |
12 |
69,309,972 (GRCm39) |
missense |
probably benign |
0.02 |
R3001:Klhdc1
|
UTSW |
12 |
69,302,983 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3002:Klhdc1
|
UTSW |
12 |
69,302,983 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4738:Klhdc1
|
UTSW |
12 |
69,329,907 (GRCm39) |
missense |
probably benign |
0.07 |
R5009:Klhdc1
|
UTSW |
12 |
69,298,712 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5366:Klhdc1
|
UTSW |
12 |
69,329,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R5619:Klhdc1
|
UTSW |
12 |
69,304,919 (GRCm39) |
splice site |
probably null |
|
R5662:Klhdc1
|
UTSW |
12 |
69,329,939 (GRCm39) |
missense |
probably benign |
0.07 |
R5911:Klhdc1
|
UTSW |
12 |
69,303,025 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5995:Klhdc1
|
UTSW |
12 |
69,297,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R6708:Klhdc1
|
UTSW |
12 |
69,306,304 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6992:Klhdc1
|
UTSW |
12 |
69,300,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:Klhdc1
|
UTSW |
12 |
69,309,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R7597:Klhdc1
|
UTSW |
12 |
69,316,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R7833:Klhdc1
|
UTSW |
12 |
69,329,942 (GRCm39) |
missense |
probably benign |
0.12 |
R8826:Klhdc1
|
UTSW |
12 |
69,305,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R8828:Klhdc1
|
UTSW |
12 |
69,298,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R8880:Klhdc1
|
UTSW |
12 |
69,298,817 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8939:Klhdc1
|
UTSW |
12 |
69,300,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Klhdc1
|
UTSW |
12 |
69,309,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R9114:Klhdc1
|
UTSW |
12 |
69,288,783 (GRCm39) |
missense |
probably damaging |
0.99 |
R9270:Klhdc1
|
UTSW |
12 |
69,309,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTATCAGATAAAGGGCTGACC -3'
(R):5'- TCCAGACAACACTTCTGGTCC -3'
Sequencing Primer
(F):5'- CCAAGGCTGGGTTCTGAG -3'
(R):5'- GTGCTCTGCAGTTACCATAGCAAC -3'
|
Posted On |
2015-07-07 |