Incidental Mutation 'R7989:Klhl12'
| ID |
651627 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl12
|
| Ensembl Gene |
ENSMUSG00000026455 |
| Gene Name |
kelch-like 12 |
| Synonyms |
C3ip1 |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
134383240-134418618 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 134417143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 552
(S552P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027725]
[ENSMUST00000112232]
[ENSMUST00000116528]
|
| AlphaFold |
Q8BZM0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027725
AA Change: S552P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027725
Gene: ENSMUSG00000026455
AA Change: S552P
| 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: S525P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107851
Gene: ENSMUSG00000026455
AA Change: S525P
| 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: S552P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112227
Gene: ENSMUSG00000026455
AA Change: S552P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Grhpr |
C |
T |
4: 44,989,008 (GRCm39) |
P275S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Igtp |
A |
C |
11: 58,097,205 (GRCm39) |
K125N |
probably damaging |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Pphln1 |
C |
A |
15: 93,386,960 (GRCm39) |
H353N |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Skp2 |
C |
T |
15: 9,127,979 (GRCm39) |
R129H |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Tmem200a |
C |
A |
10: 25,869,955 (GRCm39) |
V105F |
probably benign |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
probably 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 |
|
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 |
|
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'- TGGGCTAGAATCATGTATCCAAGG -3'
(R):5'- TGCGAAGGAGAGTGTGCATC -3'
Sequencing Primer
(F):5'- TCCAAGGCAAGAAAGAATCCATTTG -3'
(R):5'- GTACAATCATCATCTCAGCACTGGTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation