Incidental Mutation 'IGL02115:Klhl22'
| ID |
280317 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Klhl22
|
| Ensembl Gene |
ENSMUSG00000022750 |
| Gene Name |
kelch-like 22 |
| Synonyms |
2610318I18Rik, Kelchl |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
IGL02115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17577485-17611246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17594459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 196
(V196A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127227
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117192]
[ENSMUST00000120488]
[ENSMUST00000126600]
[ENSMUST00000129199]
[ENSMUST00000129299]
[ENSMUST00000140306]
[ENSMUST00000165790]
|
| AlphaFold |
Q99JN2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117192
AA Change: V196A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: V196A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
147 |
3.58e-26 |
SMART |
|
BACK
|
152 |
258 |
2.14e-19 |
SMART |
|
Kelch
|
299 |
349 |
8.12e0 |
SMART |
|
Kelch
|
350 |
399 |
8.09e-4 |
SMART |
|
Kelch
|
400 |
446 |
1.69e-6 |
SMART |
|
Kelch
|
447 |
493 |
1.53e-4 |
SMART |
|
Kelch
|
494 |
544 |
7.59e-2 |
SMART |
|
Kelch
|
545 |
593 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120488
AA Change: V196A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: V196A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
147 |
3.58e-26 |
SMART |
|
BACK
|
152 |
258 |
2.14e-19 |
SMART |
|
Kelch
|
299 |
349 |
8.12e0 |
SMART |
|
Kelch
|
350 |
399 |
8.09e-4 |
SMART |
|
Kelch
|
400 |
446 |
1.69e-6 |
SMART |
|
Kelch
|
447 |
493 |
1.53e-4 |
SMART |
|
Kelch
|
494 |
544 |
7.59e-2 |
SMART |
|
Kelch
|
545 |
593 |
1.04e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126600
|
| SMART Domains |
Protein: ENSMUSP00000118696
Gene: ENSMUSG00000022750
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
40 |
115 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129199
|
| SMART Domains |
Protein: ENSMUSP00000119191
Gene: ENSMUSG00000022750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
117 |
3.1e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140306
|
| SMART Domains |
Protein: ENSMUSP00000122145
Gene: ENSMUSG00000022750
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
130 |
5.11e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144116
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000165790
AA Change: V196A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: V196A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
50 |
147 |
3.58e-26 |
SMART |
|
BACK
|
152 |
258 |
2.14e-19 |
SMART |
|
Kelch
|
299 |
349 |
8.12e0 |
SMART |
|
Kelch
|
350 |
399 |
8.09e-4 |
SMART |
|
Kelch
|
400 |
446 |
1.69e-6 |
SMART |
|
Kelch
|
447 |
493 |
1.53e-4 |
SMART |
|
Kelch
|
494 |
544 |
7.59e-2 |
SMART |
|
Kelch
|
545 |
593 |
1.04e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,462 (GRCm39) |
C104F |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,623 (GRCm39) |
V153I |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
| Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
| Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
| Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
| Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
| Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
| Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
| Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
| Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
| Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
| Ppfibp2 |
G |
A |
7: 107,338,525 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
C |
4: 43,426,136 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,159,708 (GRCm39) |
D426G |
unknown |
Het |
| Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
probably damaging |
Het |
|
| Other mutations in Klhl22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01958:Klhl22
|
APN |
16 |
17,594,326 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01973:Klhl22
|
APN |
16 |
17,610,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02383:Klhl22
|
APN |
16 |
17,594,762 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03381:Klhl22
|
APN |
16 |
17,610,591 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0562:Klhl22
|
UTSW |
16 |
17,610,488 (GRCm39) |
missense |
probably benign |
|
|
R0811:Klhl22
|
UTSW |
16 |
17,610,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0812:Klhl22
|
UTSW |
16 |
17,610,453 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1661:Klhl22
|
UTSW |
16 |
17,594,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1665:Klhl22
|
UTSW |
16 |
17,594,352 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1732:Klhl22
|
UTSW |
16 |
17,594,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Klhl22
|
UTSW |
16 |
17,589,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2042:Klhl22
|
UTSW |
16 |
17,610,284 (GRCm39) |
unclassified |
probably benign |
|
|
R2083:Klhl22
|
UTSW |
16 |
17,594,389 (GRCm39) |
missense |
probably benign |
|
|
R4368:Klhl22
|
UTSW |
16 |
17,607,137 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4860:Klhl22
|
UTSW |
16 |
17,594,880 (GRCm39) |
synonymous |
silent |
|
|
R6413:Klhl22
|
UTSW |
16 |
17,607,181 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7031:Klhl22
|
UTSW |
16 |
17,594,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Klhl22
|
UTSW |
16 |
17,610,614 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7378:Klhl22
|
UTSW |
16 |
17,594,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Klhl22
|
UTSW |
16 |
17,607,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8051:Klhl22
|
UTSW |
16 |
17,610,443 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8153:Klhl22
|
UTSW |
16 |
17,610,414 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8670:Klhl22
|
UTSW |
16 |
17,594,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8732:Klhl22
|
UTSW |
16 |
17,589,690 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9003:Klhl22
|
UTSW |
16 |
17,589,612 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9168:Klhl22
|
UTSW |
16 |
17,602,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Klhl22
|
UTSW |
16 |
17,594,617 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9487:Klhl22
|
UTSW |
16 |
17,589,663 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9603:Klhl22
|
UTSW |
16 |
17,594,915 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1088:Klhl22
|
UTSW |
16 |
17,594,407 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1176:Klhl22
|
UTSW |
16 |
17,594,560 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation