Incidental Mutation 'R5302:Klhl12'
| ID |
404280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl12
|
| Ensembl Gene |
ENSMUSG00000026455 |
| Gene Name |
kelch-like 12 |
| Synonyms |
C3ip1 |
| MMRRC Submission |
042885-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5302 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134383240-134418618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 134417189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 540
(E540G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027725]
[ENSMUST00000112232]
[ENSMUST00000116528]
|
| AlphaFold |
Q8BZM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027725
AA Change: E567G
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: E567G
| 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 |
possibly damaging
Transcript: ENSMUST00000112232
AA Change: E540G
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: E540G
| 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: E567G
PolyPhen 2
Score 0.328 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: E567G
| 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 |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,323,111 (GRCm39) |
V1657A |
possibly damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Acot5 |
A |
G |
12: 84,120,215 (GRCm39) |
Y190C |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,583,873 (GRCm39) |
Y941N |
probably benign |
Het |
| BC035947 |
A |
T |
1: 78,488,599 (GRCm39) |
M1K |
probably null |
Het |
| C2cd5 |
A |
G |
6: 143,019,482 (GRCm39) |
C278R |
probably benign |
Het |
| Cd200r1 |
G |
T |
16: 44,613,172 (GRCm39) |
L259F |
possibly damaging |
Het |
| Clcn4 |
A |
G |
7: 7,297,050 (GRCm39) |
V136A |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,085,300 (GRCm39) |
S413P |
probably benign |
Het |
| Corin |
T |
A |
5: 72,473,441 (GRCm39) |
E748D |
probably benign |
Het |
| Crtc2 |
G |
T |
3: 90,168,325 (GRCm39) |
G356V |
probably damaging |
Het |
| D1Pas1 |
T |
A |
1: 186,701,642 (GRCm39) |
Y524N |
probably damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,602,818 (GRCm39) |
S147P |
probably damaging |
Het |
| Eif1ad16 |
T |
A |
12: 87,985,316 (GRCm39) |
I76F |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,527,288 (GRCm39) |
I633N |
probably benign |
Het |
| Gm3095 |
A |
G |
14: 15,170,367 (GRCm39) |
D72G |
probably null |
Het |
| Gm5449 |
C |
T |
13: 53,679,787 (GRCm39) |
|
noncoding transcript |
Het |
| Gpx7 |
T |
C |
4: 108,258,111 (GRCm39) |
T161A |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,855,982 (GRCm39) |
L236P |
probably damaging |
Het |
| H2-Q2 |
G |
T |
17: 35,563,885 (GRCm39) |
R255S |
probably damaging |
Het |
| Il17rc |
G |
T |
6: 113,459,997 (GRCm39) |
A648S |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,012,181 (GRCm39) |
I135V |
probably benign |
Het |
| Mrps26 |
C |
A |
2: 130,406,087 (GRCm39) |
T100K |
probably benign |
Het |
| Nid2 |
A |
G |
14: 19,829,769 (GRCm39) |
T687A |
probably benign |
Het |
| Npas3 |
A |
T |
12: 54,115,619 (GRCm39) |
D829V |
probably damaging |
Het |
| Ocln |
T |
C |
13: 100,642,807 (GRCm39) |
D176G |
probably damaging |
Het |
| Or11h6 |
A |
G |
14: 50,879,776 (GRCm39) |
|
probably null |
Het |
| Pax3 |
A |
C |
1: 78,098,249 (GRCm39) |
M380R |
possibly damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,081,208 (GRCm39) |
E650G |
probably damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,096,083 (GRCm39) |
H668N |
probably damaging |
Het |
| Polr3b |
T |
C |
10: 84,535,264 (GRCm39) |
Y858H |
possibly damaging |
Het |
| Pus10 |
T |
C |
11: 23,617,416 (GRCm39) |
|
probably null |
Het |
| Raver1 |
T |
C |
9: 20,986,677 (GRCm39) |
D739G |
probably damaging |
Het |
| Skic3 |
G |
A |
13: 76,295,886 (GRCm39) |
E1050K |
possibly damaging |
Het |
| Slc26a11 |
T |
C |
11: 119,254,276 (GRCm39) |
L198P |
probably damaging |
Het |
| Slc44a3 |
A |
G |
3: 121,303,962 (GRCm39) |
V258A |
probably damaging |
Het |
| Socs7 |
T |
A |
11: 97,280,025 (GRCm39) |
I524N |
probably damaging |
Het |
| Steap4 |
T |
A |
5: 8,025,547 (GRCm39) |
L36* |
probably null |
Het |
| Svep1 |
G |
C |
4: 58,096,183 (GRCm39) |
T1479S |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,547,619 (GRCm39) |
V32184F |
probably damaging |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,960 (GRCm39) |
N6D |
possibly damaging |
Het |
|
| Other mutations in Klhl12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00944:Klhl12
|
APN |
1 |
134,411,491 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTATGTAAAGTGATGGAGACC -3'
(R):5'- GGTTTCCCACATCCAAACGTG -3'
Sequencing Primer
(F):5'- AGTGATGGAGACCTCATTTCTTTC -3'
(R):5'- CTTCTGAGCAAGATGACCAGTGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation