Incidental Mutation 'R1417:Klhl11'
| ID |
159866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl11
|
| Ensembl Gene |
ENSMUSG00000048732 |
| Gene Name |
kelch-like 11 |
| Synonyms |
|
| MMRRC Submission |
039473-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R1417 (G1)
|
| Quality Score |
138 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100353440-100363567 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100363115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 147
(E147G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054963
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007131]
[ENSMUST00000056665]
[ENSMUST00000107389]
[ENSMUST00000165111]
|
| AlphaFold |
Q8CE33 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007131
|
| SMART Domains |
Protein: ENSMUSP00000007131
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
|
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
|
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056665
AA Change: E147G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000054963
Gene: ENSMUSG00000048732
AA Change: E147G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
BTB
|
95 |
201 |
2.69e-21 |
SMART |
|
BACK
|
206 |
308 |
9.54e-26 |
SMART |
|
Kelch
|
361 |
408 |
4.1e0 |
SMART |
|
Kelch
|
409 |
454 |
2.61e-1 |
SMART |
|
Kelch
|
455 |
502 |
2.17e-1 |
SMART |
|
Kelch
|
611 |
662 |
1.39e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107389
|
| SMART Domains |
Protein: ENSMUSP00000103012
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Citrate_bind
|
244 |
421 |
1.7e-94 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
494 |
600 |
6.6e-15 |
PFAM |
|
Pfam:Ligase_CoA
|
660 |
785 |
2.1e-16 |
PFAM |
|
Pfam:Citrate_synt
|
879 |
1085 |
2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154151
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165111
|
| SMART Domains |
Protein: ENSMUSP00000127632
Gene: ENSMUSG00000020917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP-grasp_2
|
6 |
207 |
2.4e-8 |
PFAM |
|
low complexity region
|
441 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
475 |
N/A |
INTRINSIC |
|
Pfam:CoA_binding
|
484 |
590 |
3.9e-14 |
PFAM |
|
Pfam:Ligase_CoA
|
650 |
775 |
1.2e-16 |
PFAM |
|
Pfam:Citrate_synt
|
868 |
1076 |
4.8e-22 |
PFAM |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.8%
- 20x: 87.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
A |
G |
16: 29,117,053 (GRCm39) |
V565A |
probably benign |
Het |
| Atp6v1b1 |
T |
C |
6: 83,730,862 (GRCm39) |
S196P |
probably damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
| Ces1a |
C |
T |
8: 93,749,044 (GRCm39) |
D456N |
probably benign |
Het |
| Clu |
T |
A |
14: 66,212,420 (GRCm39) |
Y124* |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,162 (GRCm39) |
E658G |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,846,573 (GRCm39) |
E2913G |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,614,487 (GRCm39) |
|
probably null |
Het |
| Enox1 |
C |
T |
14: 77,723,445 (GRCm39) |
|
probably benign |
Het |
| G6pc2 |
T |
C |
2: 69,053,312 (GRCm39) |
V122A |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,652 (GRCm39) |
S453G |
possibly damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,669 (GRCm39) |
V608G |
probably damaging |
Het |
| Hbq1a |
A |
G |
11: 32,250,722 (GRCm39) |
D135G |
probably benign |
Het |
| Hspg2 |
A |
G |
4: 137,244,947 (GRCm39) |
T891A |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,413,993 (GRCm39) |
Y1445C |
probably damaging |
Het |
| Ipo8 |
C |
T |
6: 148,719,550 (GRCm39) |
D132N |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,764,311 (GRCm39) |
V41D |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,894,653 (GRCm39) |
I2306V |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,636,425 (GRCm39) |
V1514A |
probably benign |
Het |
| Lrrtm2 |
A |
T |
18: 35,347,011 (GRCm39) |
I97N |
probably damaging |
Het |
| Mtmr3 |
C |
A |
11: 4,437,923 (GRCm39) |
V844L |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,197,011 (GRCm39) |
E1832G |
probably damaging |
Het |
| Or4n5 |
T |
A |
14: 50,133,020 (GRCm39) |
R80* |
probably null |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,180 (GRCm39) |
T47A |
probably benign |
Het |
| Pfkp |
T |
C |
13: 6,655,755 (GRCm39) |
K293E |
probably benign |
Het |
| Phlpp2 |
G |
T |
8: 110,667,313 (GRCm39) |
E1281* |
probably null |
Het |
| Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
| Slc8a1 |
T |
G |
17: 81,715,709 (GRCm39) |
M775L |
probably damaging |
Het |
| Stx12 |
A |
G |
4: 132,587,853 (GRCm39) |
|
probably null |
Het |
| Syt11 |
A |
T |
3: 88,669,289 (GRCm39) |
I201N |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,783,327 (GRCm39) |
N543S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,037,812 (GRCm39) |
N764S |
probably benign |
Het |
| Xylb |
A |
G |
9: 119,193,606 (GRCm39) |
D100G |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,500,284 (GRCm39) |
|
probably null |
Het |
| Zkscan16 |
T |
C |
4: 58,952,377 (GRCm39) |
V225A |
probably benign |
Het |
|
| Other mutations in Klhl11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Klhl11
|
APN |
11 |
100,354,031 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02334:Klhl11
|
APN |
11 |
100,354,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02886:Klhl11
|
APN |
11 |
100,363,047 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0372:Klhl11
|
UTSW |
11 |
100,354,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0583:Klhl11
|
UTSW |
11 |
100,355,150 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0608:Klhl11
|
UTSW |
11 |
100,363,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0609:Klhl11
|
UTSW |
11 |
100,354,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1629:Klhl11
|
UTSW |
11 |
100,355,012 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1643:Klhl11
|
UTSW |
11 |
100,353,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1985:Klhl11
|
UTSW |
11 |
100,354,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3844:Klhl11
|
UTSW |
11 |
100,363,133 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4746:Klhl11
|
UTSW |
11 |
100,355,176 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5053:Klhl11
|
UTSW |
11 |
100,363,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Klhl11
|
UTSW |
11 |
100,354,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5731:Klhl11
|
UTSW |
11 |
100,354,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Klhl11
|
UTSW |
11 |
100,355,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6874:Klhl11
|
UTSW |
11 |
100,363,031 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7295:Klhl11
|
UTSW |
11 |
100,363,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7426:Klhl11
|
UTSW |
11 |
100,355,178 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7554:Klhl11
|
UTSW |
11 |
100,354,774 (GRCm39) |
missense |
probably benign |
|
|
R7960:Klhl11
|
UTSW |
11 |
100,354,805 (GRCm39) |
missense |
probably benign |
|
|
R8125:Klhl11
|
UTSW |
11 |
100,354,811 (GRCm39) |
missense |
probably benign |
|
|
R8145:Klhl11
|
UTSW |
11 |
100,354,740 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8192:Klhl11
|
UTSW |
11 |
100,354,922 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8202:Klhl11
|
UTSW |
11 |
100,354,150 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9649:Klhl11
|
UTSW |
11 |
100,363,506 (GRCm39) |
missense |
probably benign |
0.18 |
|
Z1177:Klhl11
|
UTSW |
11 |
100,354,792 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTCTTGCCACTGCGAAGCTG -3'
(R):5'- TGTTCTGCGACATCACCCTGTG -3'
Sequencing Primer
(F):5'- TGTCATCATCACAGGAGTCG -3'
(R):5'- GACATCACCCTGTGCTTCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation