Incidental Mutation 'R3902:Klhl26'
| ID |
309239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl26
|
| Ensembl Gene |
ENSMUSG00000055707 |
| Gene Name |
kelch-like 26 |
| Synonyms |
C630013N10Rik |
| MMRRC Submission |
040811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3902 (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 70905016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 217
(D217G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147349
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066597]
[ENSMUST00000166976]
[ENSMUST00000209415]
[ENSMUST00000209567]
[ENSMUST00000210250]
|
| AlphaFold |
Q8BGY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066597
AA Change: D298G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000069077
Gene: ENSMUSG00000055707
AA Change: D298G
| 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: D237G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129607
Gene: ENSMUSG00000055707
AA Change: D237G
| 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: D217G
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210250
AA Change: D264G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atmin |
A |
G |
8: 117,683,036 (GRCm39) |
N232S |
probably benign |
Het |
| Brat1 |
A |
C |
5: 140,703,751 (GRCm39) |
D668A |
possibly damaging |
Het |
| Eif2b3 |
C |
T |
4: 116,879,404 (GRCm39) |
R15W |
probably damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| F5 |
A |
G |
1: 164,003,798 (GRCm39) |
T198A |
probably benign |
Het |
| Fbxl20 |
T |
A |
11: 97,987,861 (GRCm39) |
T61S |
probably benign |
Het |
| Fry |
A |
G |
5: 150,269,392 (GRCm39) |
E211G |
probably damaging |
Het |
| Gatd1 |
A |
G |
7: 140,989,014 (GRCm39) |
L215P |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,418,526 (GRCm39) |
M1T |
probably null |
Het |
| Hacd4 |
A |
C |
4: 88,355,738 (GRCm39) |
I49R |
probably damaging |
Het |
| Jph3 |
G |
T |
8: 122,480,158 (GRCm39) |
D279Y |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,640 (GRCm39) |
N1401S |
probably benign |
Het |
| Mettl21a |
C |
T |
1: 64,647,240 (GRCm39) |
V106I |
probably benign |
Het |
| Mpdz |
A |
G |
4: 81,225,353 (GRCm39) |
V1427A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,052,526 (GRCm39) |
D1024V |
probably damaging |
Het |
| Myl7 |
T |
A |
11: 5,848,430 (GRCm39) |
K38M |
probably damaging |
Het |
| Myl7 |
T |
G |
11: 5,848,431 (GRCm39) |
K38Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,165 (GRCm39) |
V701A |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,730 (GRCm39) |
S1021P |
possibly damaging |
Het |
| Optc |
A |
G |
1: 133,825,701 (GRCm39) |
M275T |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,762,536 (GRCm39) |
T385S |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,353,169 (GRCm39) |
N986K |
probably benign |
Het |
| Pira1 |
G |
A |
7: 3,740,276 (GRCm39) |
T315I |
probably damaging |
Het |
| Plekhn1 |
T |
A |
4: 156,310,126 (GRCm39) |
I63F |
possibly damaging |
Het |
| Pogk |
C |
T |
1: 166,231,193 (GRCm39) |
V45I |
probably damaging |
Het |
| Rassf1 |
A |
G |
9: 107,432,039 (GRCm39) |
Y21C |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,030,113 (GRCm39) |
I562F |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,349,387 (GRCm39) |
S141P |
probably damaging |
Het |
| Sntn |
T |
C |
14: 13,679,084 (GRCm38) |
L86P |
probably damaging |
Het |
| Styx-ps |
A |
G |
X: 67,865,253 (GRCm39) |
M101V |
probably benign |
Het |
| Taar4 |
T |
A |
10: 23,836,913 (GRCm39) |
N174K |
probably damaging |
Het |
| Trav12-3 |
G |
T |
14: 53,859,486 (GRCm39) |
C44F |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,643,397 (GRCm39) |
R240G |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,241 (GRCm39) |
M22T |
probably benign |
Het |
| Vmn2r7 |
C |
A |
3: 64,626,937 (GRCm39) |
Q26H |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,943 (GRCm39) |
D470G |
possibly damaging |
Het |
| Xpo6 |
A |
G |
7: 125,719,581 (GRCm39) |
Y602H |
probably damaging |
Het |
| Zfp287 |
T |
C |
11: 62,603,028 (GRCm39) |
T241A |
probably benign |
Het |
| Zfp386 |
A |
G |
12: 116,023,775 (GRCm39) |
K498E |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,799,326 (GRCm39) |
L2392P |
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 |
|
R4458:Klhl26
|
UTSW |
8 |
70,905,342 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4459:Klhl26
|
UTSW |
8 |
70,904,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CGAAGTTATCCAGCACAGCC -3'
(R):5'- GTCTTCTTTCTGCAGAGCAACC -3'
Sequencing Primer
(F):5'- TATCCAGCACAGCCACGCC -3'
(R):5'- AGATTGACCTGTTCCGCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation