Incidental Mutation 'R2083:Klhl22'
ID |
230171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl22
|
Ensembl Gene |
ENSMUSG00000022750 |
Gene Name |
kelch-like 22 |
Synonyms |
2610318I18Rik, Kelchl |
MMRRC Submission |
040088-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.203)
|
Stock # |
R2083 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
17577485-17611246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 17594389 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 173
(T173A)
|
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 benign
Transcript: ENSMUST00000117192
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000114115 Gene: ENSMUSG00000022750 AA Change: T173A
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: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112412 Gene: ENSMUSG00000022750 AA Change: T173A
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 benign
Transcript: ENSMUST00000165790
AA Change: T173A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127227 Gene: ENSMUSG00000022750 AA Change: T173A
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
T |
A |
5: 146,121,681 (GRCm39) |
M73L |
possibly damaging |
Het |
AA986860 |
A |
T |
1: 130,668,806 (GRCm39) |
I58F |
probably damaging |
Het |
Acsl3 |
A |
T |
1: 78,677,528 (GRCm39) |
K507N |
probably damaging |
Het |
Adcy3 |
T |
C |
12: 4,223,512 (GRCm39) |
Y245H |
probably damaging |
Het |
Adgra1 |
T |
C |
7: 139,455,547 (GRCm39) |
S392P |
probably damaging |
Het |
Ahnak |
C |
T |
19: 8,988,921 (GRCm39) |
P3402S |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,596,945 (GRCm39) |
I12N |
possibly damaging |
Het |
Atp10b |
A |
G |
11: 43,103,250 (GRCm39) |
T545A |
probably benign |
Het |
Atxn2 |
G |
T |
5: 121,922,069 (GRCm39) |
A638S |
probably benign |
Het |
Cd109 |
T |
C |
9: 78,574,575 (GRCm39) |
S520P |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,709,733 (GRCm39) |
D1821G |
unknown |
Het |
Cyp4a10 |
T |
C |
4: 115,382,505 (GRCm39) |
V265A |
possibly damaging |
Het |
Dmrtb1 |
C |
T |
4: 107,540,809 (GRCm39) |
R184Q |
possibly damaging |
Het |
Dnah7b |
A |
T |
1: 46,280,227 (GRCm39) |
I2719F |
possibly damaging |
Het |
En2 |
T |
C |
5: 28,372,071 (GRCm39) |
S183P |
probably damaging |
Het |
Etfb |
A |
G |
7: 43,105,924 (GRCm39) |
T101A |
probably benign |
Het |
Etl4 |
T |
A |
2: 20,748,360 (GRCm39) |
S364T |
probably damaging |
Het |
Gm17728 |
C |
A |
17: 9,641,121 (GRCm39) |
S77Y |
possibly damaging |
Het |
Golga4 |
A |
G |
9: 118,361,658 (GRCm39) |
E221G |
probably damaging |
Het |
Gpr37 |
T |
C |
6: 25,688,416 (GRCm39) |
N227S |
possibly damaging |
Het |
Insyn2b |
A |
G |
11: 34,352,141 (GRCm39) |
D61G |
probably benign |
Het |
Kctd1 |
A |
T |
18: 15,107,112 (GRCm39) |
N784K |
possibly damaging |
Het |
Ly6e |
T |
A |
15: 74,830,168 (GRCm39) |
C41S |
probably damaging |
Het |
Mapkbp1 |
T |
C |
2: 119,845,963 (GRCm39) |
L444P |
possibly damaging |
Het |
Mkx |
A |
T |
18: 6,992,855 (GRCm39) |
I143K |
probably damaging |
Het |
Mlh3 |
A |
G |
12: 85,315,815 (GRCm39) |
F124L |
probably benign |
Het |
Nlrp1a |
A |
T |
11: 71,015,046 (GRCm39) |
L68H |
possibly damaging |
Het |
Obscn |
A |
C |
11: 58,964,457 (GRCm39) |
Y726* |
probably null |
Het |
Or4f59 |
C |
T |
2: 111,872,898 (GRCm39) |
V160I |
probably benign |
Het |
Or8d1 |
T |
G |
9: 38,766,637 (GRCm39) |
V93G |
probably benign |
Het |
Peak1 |
G |
A |
9: 56,166,233 (GRCm39) |
S565L |
probably damaging |
Het |
Pter |
T |
A |
2: 12,983,247 (GRCm39) |
L84Q |
probably damaging |
Het |
Ptpn4 |
A |
G |
1: 119,615,489 (GRCm39) |
L555P |
possibly damaging |
Het |
Rpp40 |
A |
T |
13: 36,082,975 (GRCm39) |
M171K |
probably benign |
Het |
Sacs |
A |
G |
14: 61,443,955 (GRCm39) |
I2000M |
possibly damaging |
Het |
Scn5a |
T |
C |
9: 119,321,189 (GRCm39) |
I1458V |
probably benign |
Het |
Slc38a4 |
T |
C |
15: 96,906,874 (GRCm39) |
D288G |
probably benign |
Het |
Slc8a2 |
T |
G |
7: 15,868,440 (GRCm39) |
V224G |
probably damaging |
Het |
Sptbn4 |
T |
C |
7: 27,127,681 (GRCm39) |
E173G |
probably benign |
Het |
Tas1r1 |
T |
A |
4: 152,112,848 (GRCm39) |
H735L |
probably benign |
Het |
Trps1 |
G |
T |
15: 50,685,701 (GRCm39) |
Q155K |
probably damaging |
Het |
Tspyl5 |
T |
C |
15: 33,686,892 (GRCm39) |
H351R |
probably damaging |
Het |
Ttf2 |
A |
T |
3: 100,876,817 (GRCm39) |
D21E |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,635,859 (GRCm39) |
R398G |
possibly damaging |
Het |
Tubgcp6 |
A |
T |
15: 89,006,579 (GRCm39) |
Y148N |
probably damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,325 (GRCm39) |
H125Q |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,223 (GRCm39) |
T2794A |
possibly damaging |
Het |
Zfp27 |
T |
C |
7: 29,594,208 (GRCm39) |
I586V |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,660,770 (GRCm39) |
D13G |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATATTCAGATGCAGTCCTCCAG -3'
(R):5'- AAAGCGCACAGTCTCTAGGAG -3'
Sequencing Primer
(F):5'- AGTCCTCCAGCTAAGACTTGAGTG -3'
(R):5'- CATTCAGTGAGATCTGGTCAGCC -3'
|
Posted On |
2014-09-18 |