Incidental Mutation 'IGL00944:Klhl12'
| ID |
26675 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl12
|
| Ensembl Gene |
ENSMUSG00000026455 |
| Gene Name |
kelch-like 12 |
| Synonyms |
C3ip1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00944
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
134383240-134418618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134411491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 280
(N280S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027725]
[ENSMUST00000112232]
[ENSMUST00000116528]
|
| AlphaFold |
Q8BZM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027725
AA Change: N280S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: N280S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.9e-30 |
SMART |
|
BACK
|
135 |
237 |
5.39e-34 |
SMART |
|
Kelch
|
282 |
329 |
1.9e-9 |
SMART |
|
Kelch
|
330 |
379 |
3.18e-11 |
SMART |
|
Kelch
|
380 |
426 |
1.85e-12 |
SMART |
|
Kelch
|
427 |
473 |
3.11e-14 |
SMART |
|
Kelch
|
474 |
520 |
1.74e-17 |
SMART |
|
Kelch
|
521 |
567 |
4.71e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112232
AA Change: N280S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: N280S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.9e-30 |
SMART |
|
BACK
|
135 |
237 |
5.39e-34 |
SMART |
|
Kelch
|
282 |
329 |
1.9e-9 |
SMART |
|
Kelch
|
330 |
379 |
3.18e-11 |
SMART |
|
Kelch
|
380 |
426 |
1.85e-12 |
SMART |
|
Kelch
|
427 |
493 |
3.39e-6 |
SMART |
|
Kelch
|
494 |
540 |
4.71e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116528
AA Change: N280S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: N280S
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
33 |
130 |
1.9e-30 |
SMART |
|
BACK
|
135 |
237 |
5.39e-34 |
SMART |
|
Kelch
|
282 |
329 |
1.9e-9 |
SMART |
|
Kelch
|
330 |
379 |
3.18e-11 |
SMART |
|
Kelch
|
380 |
426 |
1.85e-12 |
SMART |
|
Kelch
|
427 |
473 |
3.11e-14 |
SMART |
|
Kelch
|
474 |
520 |
1.74e-17 |
SMART |
|
Kelch
|
521 |
567 |
4.71e-14 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141458
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KLHL (Kelch-like) family of proteins. This protein has been identified as an autoantigen in the autoimmune disease Sjogren's syndrome and as a potential biomarker in primary biliary cirrhosis. This protein may act as a substrate adaptor of the Cullin-3 ubiquitin ligase complex to promote substrate-specific ubiquitylation. Ubiquitylation by this complex has been shown to regulate the Wnt signaling pathway as well as COPII vesicle coat size. A pseudogene has been identified on chromosome 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
| Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
| Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
| Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
| Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
| Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
| Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
| Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
| Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
| Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
| Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
| Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
| Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
| Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
| Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
| Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
| Setd7 |
T |
A |
3: 51,440,459 (GRCm39) |
D194V |
probably damaging |
Het |
| Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
| Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
| Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
| Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
| Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
| Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
| Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
| Other mutations in Klhl12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01834:Klhl12
|
APN |
1 |
134,417,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01947:Klhl12
|
APN |
1 |
134,391,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Klhl12
|
APN |
1 |
134,391,652 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02550:Klhl12
|
APN |
1 |
134,395,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0403:Klhl12
|
UTSW |
1 |
134,413,594 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1508:Klhl12
|
UTSW |
1 |
134,416,712 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1801:Klhl12
|
UTSW |
1 |
134,416,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Klhl12
|
UTSW |
1 |
134,415,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Klhl12
|
UTSW |
1 |
134,413,507 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5302:Klhl12
|
UTSW |
1 |
134,417,189 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5503:Klhl12
|
UTSW |
1 |
134,413,653 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5877:Klhl12
|
UTSW |
1 |
134,411,558 (GRCm39) |
nonsense |
probably null |
|
|
R6918:Klhl12
|
UTSW |
1 |
134,403,584 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7126:Klhl12
|
UTSW |
1 |
134,395,521 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7688:Klhl12
|
UTSW |
1 |
134,416,768 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7897:Klhl12
|
UTSW |
1 |
134,386,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7898:Klhl12
|
UTSW |
1 |
134,386,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7958:Klhl12
|
UTSW |
1 |
134,395,455 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7989:Klhl12
|
UTSW |
1 |
134,417,143 (GRCm39) |
missense |
probably benign |
|
|
R8299:Klhl12
|
UTSW |
1 |
134,416,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Klhl12
|
UTSW |
1 |
134,413,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9546:Klhl12
|
UTSW |
1 |
134,413,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation