Incidental Mutation 'R4459:Klhl26'
| ID |
330061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl26
|
| Ensembl Gene |
ENSMUSG00000055707 |
| Gene Name |
kelch-like 26 |
| Synonyms |
C630013N10Rik |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70902869-70929618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70904194 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 538
(Y538C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147385
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066597]
[ENSMUST00000166976]
[ENSMUST00000209415]
[ENSMUST00000209567]
[ENSMUST00000210250]
|
| AlphaFold |
Q8BGY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066597
AA Change: Y572C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: Y572C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
19 |
N/A |
INTRINSIC |
|
BTB
|
54 |
151 |
1.56e-26 |
SMART |
|
BACK
|
156 |
257 |
1.62e-28 |
SMART |
|
Blast:Kelch
|
301 |
352 |
4e-27 |
BLAST |
|
Kelch
|
353 |
404 |
1.44e0 |
SMART |
|
Kelch
|
405 |
451 |
2.86e-4 |
SMART |
|
Kelch
|
452 |
499 |
1.21e-2 |
SMART |
|
Kelch
|
500 |
550 |
4.27e-3 |
SMART |
|
Kelch
|
551 |
597 |
4.93e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166976
AA Change: Y511C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: Y511C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
19 |
89 |
1.7e-13 |
PFAM |
|
BACK
|
95 |
196 |
1.62e-28 |
SMART |
|
Blast:Kelch
|
240 |
291 |
4e-27 |
BLAST |
|
Kelch
|
292 |
343 |
1.44e0 |
SMART |
|
Kelch
|
344 |
390 |
2.86e-4 |
SMART |
|
Kelch
|
391 |
438 |
1.21e-2 |
SMART |
|
Kelch
|
439 |
489 |
4.27e-3 |
SMART |
|
Kelch
|
490 |
536 |
4.93e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209415
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209567
AA Change: Y491C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210250
AA Change: Y538C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9440 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or14j9 |
G |
A |
17: 37,874,365 (GRCm39) |
T279I |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Klhl26 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Klhl26
|
APN |
8 |
70,904,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02508:Klhl26
|
APN |
8 |
70,905,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Klhl26
|
APN |
8 |
70,908,283 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03144:Klhl26
|
APN |
8 |
70,905,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Klhl26
|
UTSW |
8 |
70,904,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0408:Klhl26
|
UTSW |
8 |
70,905,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Klhl26
|
UTSW |
8 |
70,904,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Klhl26
|
UTSW |
8 |
70,904,383 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1940:Klhl26
|
UTSW |
8 |
70,904,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3902:Klhl26
|
UTSW |
8 |
70,905,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4458:Klhl26
|
UTSW |
8 |
70,905,342 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4460:Klhl26
|
UTSW |
8 |
70,904,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:Klhl26
|
UTSW |
8 |
70,904,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Klhl26
|
UTSW |
8 |
70,905,368 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5334:Klhl26
|
UTSW |
8 |
70,904,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5342:Klhl26
|
UTSW |
8 |
70,908,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5711:Klhl26
|
UTSW |
8 |
70,904,974 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5724:Klhl26
|
UTSW |
8 |
70,904,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5965:Klhl26
|
UTSW |
8 |
70,905,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Klhl26
|
UTSW |
8 |
70,905,592 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7390:Klhl26
|
UTSW |
8 |
70,905,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8917:Klhl26
|
UTSW |
8 |
70,905,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9115:Klhl26
|
UTSW |
8 |
70,904,896 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9386:Klhl26
|
UTSW |
8 |
70,904,156 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9471:Klhl26
|
UTSW |
8 |
70,904,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9545:Klhl26
|
UTSW |
8 |
70,904,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Klhl26
|
UTSW |
8 |
70,904,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATGGCACCTAAACCTTG -3'
(R):5'- TGCAGTGCTATGATCCAGC -3'
Sequencing Primer
(F):5'- ATGGCACCTAAACCTTGGGGAC -3'
(R):5'- TGCTATGATCCAGCAGCCGAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation