Incidental Mutation 'R4368:Klhl22'
| ID |
325871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl22
|
| Ensembl Gene |
ENSMUSG00000022750 |
| Gene Name |
kelch-like 22 |
| Synonyms |
2610318I18Rik, Kelchl |
| MMRRC Submission |
041115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.203)
|
| Stock # |
R4368 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
17577485-17611246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17607137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 481
(V481A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117192]
[ENSMUST00000120488]
[ENSMUST00000165790]
|
| AlphaFold |
Q99JN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117192
AA Change: V481A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114115
Gene: ENSMUSG00000022750
AA Change: V481A
| 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 |
possibly damaging
Transcript: ENSMUST00000120488
AA Change: V481A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112412
Gene: ENSMUSG00000022750
AA Change: V481A
| 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 |
possibly damaging
Transcript: ENSMUST00000165790
AA Change: V481A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127227
Gene: ENSMUSG00000022750
AA Change: V481A
| 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 |
0.0674 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
A |
G |
3: 59,754,199 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm2 |
T |
C |
3: 59,659,387 (GRCm39) |
F280S |
probably damaging |
Het |
| Adamts7 |
G |
A |
9: 90,077,904 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
C |
13: 81,641,029 (GRCm39) |
S3335R |
unknown |
Het |
| Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,296 (GRCm39) |
Q2761* |
probably null |
Het |
| Cdh19 |
G |
A |
1: 110,817,442 (GRCm39) |
Q767* |
probably null |
Het |
| Cep120 |
G |
A |
18: 53,818,957 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
| Efr3a |
T |
A |
15: 65,738,629 (GRCm39) |
F753I |
possibly damaging |
Het |
| Hspb7 |
A |
T |
4: 141,151,329 (GRCm39) |
E157V |
probably damaging |
Het |
| Irx6 |
A |
G |
8: 93,405,029 (GRCm39) |
E299G |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,828,440 (GRCm39) |
N489Y |
possibly damaging |
Het |
| Mapk13 |
A |
G |
17: 28,996,539 (GRCm39) |
|
probably null |
Het |
| Meis1 |
A |
T |
11: 18,960,656 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,797,012 (GRCm39) |
K301E |
probably benign |
Het |
| Nol10 |
T |
C |
12: 17,429,293 (GRCm39) |
Y340H |
probably damaging |
Het |
| Or2k2 |
T |
C |
4: 58,785,153 (GRCm39) |
S190G |
probably benign |
Het |
| Paqr3 |
T |
C |
5: 97,256,150 (GRCm39) |
S75G |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,972,061 (GRCm39) |
T113A |
probably damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
| Psph |
T |
G |
5: 129,848,654 (GRCm39) |
K9T |
probably benign |
Het |
| Ptpn21 |
T |
C |
12: 98,644,852 (GRCm39) |
Y1163C |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,470 (GRCm39) |
L319P |
unknown |
Het |
| Slc4a7 |
C |
T |
14: 14,733,775 (GRCm38) |
R62W |
probably damaging |
Het |
| Slc6a3 |
C |
A |
13: 73,709,031 (GRCm39) |
C318* |
probably null |
Het |
| Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
| Taf1c |
A |
C |
8: 120,326,055 (GRCm39) |
S602R |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,464,958 (GRCm39) |
D229G |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,857,382 (GRCm39) |
|
probably benign |
Het |
| Trim45 |
T |
C |
3: 100,830,502 (GRCm39) |
I92T |
probably damaging |
Het |
| Ttll8 |
G |
A |
15: 88,798,384 (GRCm39) |
P784S |
possibly damaging |
Het |
| Tubg1 |
G |
T |
11: 101,016,190 (GRCm39) |
|
probably null |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,447 (GRCm39) |
N92I |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,315,676 (GRCm39) |
V130A |
probably benign |
Het |
| Wdr46 |
A |
G |
17: 34,160,120 (GRCm39) |
|
probably benign |
Het |
| Yme1l1 |
A |
G |
2: 23,050,223 (GRCm39) |
H18R |
possibly damaging |
Het |
| Zfp263 |
T |
A |
16: 3,562,770 (GRCm39) |
|
probably benign |
Het |
| Zfp534 |
T |
C |
4: 147,760,015 (GRCm39) |
D218G |
probably benign |
Het |
| Zscan12 |
T |
C |
13: 21,553,553 (GRCm39) |
V459A |
probably benign |
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 |
|
|
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'- GCAGTCTCAGTACATTCTGCCTG -3'
(R):5'- TGCATGCATGGAACCAGAGG -3'
Sequencing Primer
(F):5'- AGTCTCAGTACATTCTGCCTGACTAC -3'
(R):5'- TGCACATCCCTTCTGTAG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation