Incidental Mutation 'R6413:Klhl22'
ID |
514831 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl22
|
Ensembl Gene |
ENSMUSG00000022750 |
Gene Name |
kelch-like 22 |
Synonyms |
2610318I18Rik, Kelchl |
MMRRC Submission |
044555-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
R6413 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
17577485-17611246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17607181 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 496
(F496L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117192]
[ENSMUST00000120488]
[ENSMUST00000165790]
|
AlphaFold |
Q99JN2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000117192
AA Change: F496L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000114115 Gene: ENSMUSG00000022750 AA Change: F496L
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: ENSMUST00000120488
AA Change: F496L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000112412 Gene: ENSMUSG00000022750 AA Change: F496L
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: ENSMUST00000165790
AA Change: F496L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000127227 Gene: ENSMUSG00000022750 AA Change: F496L
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
C |
A |
13: 119,624,647 (GRCm39) |
|
probably benign |
Het |
Agtpbp1 |
A |
G |
13: 59,647,834 (GRCm39) |
V662A |
possibly damaging |
Het |
Ambra1 |
T |
G |
2: 91,599,429 (GRCm39) |
V183G |
possibly damaging |
Het |
Amdhd2 |
A |
G |
17: 24,377,290 (GRCm39) |
S208P |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,417,654 (GRCm39) |
V133I |
probably benign |
Het |
Ankrd35 |
A |
G |
3: 96,592,129 (GRCm39) |
K805R |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,182,583 (GRCm39) |
Q270R |
probably benign |
Het |
Cabp2 |
G |
A |
19: 4,135,698 (GRCm39) |
|
probably null |
Het |
Ccnt1 |
A |
G |
15: 98,441,850 (GRCm39) |
S473P |
probably benign |
Het |
Cenpt |
G |
A |
8: 106,572,973 (GRCm39) |
P373S |
possibly damaging |
Het |
Cyp3a44 |
T |
A |
5: 145,731,254 (GRCm39) |
D182V |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,765,127 (GRCm39) |
T799A |
probably benign |
Het |
Dtna |
T |
A |
18: 23,755,071 (GRCm39) |
D464E |
probably damaging |
Het |
E030025P04Rik |
T |
C |
11: 109,030,425 (GRCm39) |
Y154C |
unknown |
Het |
Ephb2 |
C |
A |
4: 136,498,433 (GRCm39) |
E215D |
probably benign |
Het |
Eya4 |
T |
C |
10: 22,992,724 (GRCm39) |
D445G |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,683 (GRCm39) |
L2198F |
unknown |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Numa1 |
A |
T |
7: 101,639,778 (GRCm39) |
|
probably null |
Het |
Papola |
T |
C |
12: 105,772,763 (GRCm39) |
|
probably benign |
Het |
Phldb1 |
T |
C |
9: 44,607,440 (GRCm39) |
E1255G |
probably damaging |
Het |
Rgs8 |
A |
T |
1: 153,568,619 (GRCm39) |
D168V |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,004,522 (GRCm39) |
V1486A |
probably damaging |
Het |
Rpa2 |
G |
T |
4: 132,501,156 (GRCm39) |
A118S |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,953 (GRCm39) |
I110F |
probably damaging |
Het |
Serpini2 |
T |
C |
3: 75,166,921 (GRCm39) |
Y112C |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,986 (GRCm39) |
Y43H |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,963,955 (GRCm39) |
E514G |
probably damaging |
Het |
Slc44a5 |
T |
C |
3: 153,963,387 (GRCm39) |
F388S |
probably benign |
Het |
Spmip6 |
A |
T |
4: 41,505,135 (GRCm39) |
V196D |
possibly damaging |
Het |
Tmem176b |
T |
C |
6: 48,815,266 (GRCm39) |
N9S |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,851,790 (GRCm39) |
Q758L |
probably benign |
Het |
Trrap |
T |
A |
5: 144,720,856 (GRCm39) |
I231N |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,730,397 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,870,973 (GRCm39) |
N770S |
probably damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,519,544 (GRCm39) |
Y471* |
probably null |
Het |
Vmn2r8 |
T |
G |
5: 108,949,589 (GRCm39) |
E419D |
probably benign |
Het |
Wdfy4 |
C |
A |
14: 32,689,604 (GRCm39) |
L2818F |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,308,205 (GRCm39) |
Y477F |
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 |
IGL02115:Klhl22
|
APN |
16 |
17,594,459 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAACAGGTATATGCCCATGC -3'
(R):5'- AGGCACAAGGGAAACTTCTATG -3'
Sequencing Primer
(F):5'- TGCAGGCACCACACTGC -3'
(R):5'- TATGCATCATATGGAATGTGCAAGG -3'
|
Posted On |
2018-05-04 |