Incidental Mutation 'R1882:Klhl32'
| ID |
209164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl32
|
| Ensembl Gene |
ENSMUSG00000040387 |
| Gene Name |
kelch-like 32 |
| Synonyms |
6430524H05Rik, D4Ertd389e, LOC384000 |
| MMRRC Submission |
039903-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R1882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
24612554-24851124 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 24743916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 17
(L17*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084781]
[ENSMUST00000108214]
[ENSMUST00000108218]
[ENSMUST00000140652]
[ENSMUST00000150920]
|
| AlphaFold |
A2AJX0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000084781
AA Change: L85*
|
| SMART Domains |
Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: L85*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
138 |
1.28e-22 |
SMART |
|
BACK
|
111 |
212 |
3.17e-22 |
SMART |
|
Kelch
|
257 |
313 |
4.07e-1 |
SMART |
|
Kelch
|
314 |
365 |
3.57e-1 |
SMART |
|
Kelch
|
366 |
413 |
3.77e-4 |
SMART |
|
Kelch
|
414 |
461 |
7.04e-4 |
SMART |
|
Kelch
|
462 |
514 |
6.47e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108213
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108214
AA Change: L85*
|
| SMART Domains |
Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: L85*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.86e-25 |
SMART |
|
BACK
|
144 |
225 |
3.31e-2 |
SMART |
|
Blast:Kelch
|
233 |
285 |
1e-31 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108218
AA Change: L85*
|
| SMART Domains |
Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: L85*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.86e-25 |
SMART |
|
BACK
|
144 |
245 |
3.17e-22 |
SMART |
|
Kelch
|
290 |
346 |
4.07e-1 |
SMART |
|
Kelch
|
347 |
398 |
3.57e-1 |
SMART |
|
Kelch
|
399 |
446 |
3.77e-4 |
SMART |
|
Kelch
|
447 |
494 |
7.04e-4 |
SMART |
|
Kelch
|
495 |
547 |
6.47e-3 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000140652
AA Change: L85*
|
| SMART Domains |
Protein: ENSMUSP00000137312
Gene: ENSMUSG00000040387
AA Change: L85*
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.14e-24 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000150920
AA Change: L17*
|
| SMART Domains |
Protein: ENSMUSP00000135917
Gene: ENSMUSG00000040387
AA Change: L17*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
1 |
49 |
4e-19 |
BLAST |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,786,945 (GRCm39) |
S189P |
probably benign |
Het |
| Adgrg3 |
G |
T |
8: 95,766,943 (GRCm39) |
V433F |
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,222,234 (GRCm39) |
W1233R |
probably damaging |
Het |
| Brf2 |
T |
C |
8: 27,618,577 (GRCm39) |
D9G |
probably damaging |
Het |
| Btrc |
G |
A |
19: 45,515,839 (GRCm39) |
R562Q |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,225 (GRCm39) |
F67L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,790 (GRCm39) |
M150T |
probably damaging |
Het |
| Cntln |
A |
G |
4: 85,019,072 (GRCm39) |
E1254G |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,166 (GRCm39) |
C332Y |
probably damaging |
Het |
| Ctla2a |
A |
G |
13: 61,083,355 (GRCm39) |
|
probably benign |
Het |
| Dusp13b |
A |
T |
14: 21,785,043 (GRCm39) |
D223E |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,188 (GRCm39) |
L620F |
probably damaging |
Het |
| H2-DMb2 |
C |
T |
17: 34,366,834 (GRCm39) |
R89C |
probably damaging |
Het |
| Lats2 |
C |
T |
14: 57,934,811 (GRCm39) |
V640M |
probably damaging |
Het |
| Lrig3 |
G |
A |
10: 125,845,694 (GRCm39) |
V708I |
possibly damaging |
Het |
| Mtcl1 |
T |
C |
17: 66,686,315 (GRCm39) |
T415A |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,670,962 (GRCm39) |
*611W |
probably null |
Het |
| Nfx1 |
A |
G |
4: 41,009,240 (GRCm39) |
T793A |
possibly damaging |
Het |
| Nlrp4d |
T |
C |
7: 10,116,604 (GRCm39) |
|
noncoding transcript |
Het |
| Nos3 |
T |
C |
5: 24,573,818 (GRCm39) |
V194A |
probably damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,167,473 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,154,150 (GRCm39) |
D589G |
probably damaging |
Het |
| Omg |
C |
T |
11: 79,392,545 (GRCm39) |
|
probably benign |
Het |
| Or10v9 |
T |
C |
19: 11,832,835 (GRCm39) |
T161A |
probably damaging |
Het |
| Or14j5 |
T |
C |
17: 38,161,839 (GRCm39) |
S119P |
probably damaging |
Het |
| Or2y17 |
A |
G |
11: 49,231,539 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,519,950 (GRCm39) |
M59K |
probably damaging |
Het |
| P2ry2 |
G |
T |
7: 100,648,058 (GRCm39) |
Y82* |
probably null |
Het |
| Pcdh1 |
T |
C |
18: 38,335,895 (GRCm39) |
T247A |
possibly damaging |
Het |
| Pecr |
A |
T |
1: 72,314,136 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
G |
9: 86,447,743 (GRCm39) |
Y167H |
possibly damaging |
Het |
| Pramel15 |
A |
T |
4: 144,103,485 (GRCm39) |
C214S |
probably benign |
Het |
| Prmt2 |
T |
C |
10: 76,058,302 (GRCm39) |
H169R |
probably benign |
Het |
| Rad51ap2 |
T |
A |
12: 11,506,251 (GRCm39) |
S58T |
possibly damaging |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Slc6a15 |
T |
C |
10: 103,230,925 (GRCm39) |
S217P |
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,363 (GRCm39) |
|
probably null |
Het |
| Snx27 |
G |
A |
3: 94,426,416 (GRCm39) |
T361I |
probably damaging |
Het |
| St7l |
A |
G |
3: 104,775,363 (GRCm39) |
T80A |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,689,031 (GRCm39) |
M98L |
possibly damaging |
Het |
| Tonsl |
C |
A |
15: 76,508,350 (GRCm39) |
A6S |
possibly damaging |
Het |
| Tpx2 |
A |
G |
2: 152,711,611 (GRCm39) |
R49G |
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,758 (GRCm39) |
K144E |
possibly damaging |
Het |
| Trpm7 |
A |
C |
2: 126,654,697 (GRCm39) |
L1414V |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,580,939 (GRCm39) |
K107E |
possibly damaging |
Het |
| Vamp3 |
A |
T |
4: 151,135,366 (GRCm39) |
|
probably benign |
Het |
| Vmn1r172 |
T |
C |
7: 23,359,651 (GRCm39) |
S179P |
probably damaging |
Het |
| Vmn1r28 |
A |
G |
6: 58,242,963 (GRCm39) |
M269V |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,464,476 (GRCm39) |
T605A |
probably benign |
Het |
| Vwce |
A |
G |
19: 10,615,520 (GRCm39) |
T134A |
possibly damaging |
Het |
| Zfp277 |
T |
C |
12: 40,495,745 (GRCm39) |
E5G |
probably benign |
Het |
|
| Other mutations in Klhl32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Klhl32
|
APN |
4 |
24,682,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02293:Klhl32
|
APN |
4 |
24,626,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Klhl32
|
APN |
4 |
24,743,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02824:Klhl32
|
APN |
4 |
24,682,237 (GRCm39) |
nonsense |
probably null |
|
|
IGL03211:Klhl32
|
APN |
4 |
24,792,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03374:Klhl32
|
APN |
4 |
24,649,533 (GRCm39) |
intron |
probably benign |
|
|
R0071:Klhl32
|
UTSW |
4 |
24,743,907 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0478:Klhl32
|
UTSW |
4 |
24,792,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0856:Klhl32
|
UTSW |
4 |
24,682,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0908:Klhl32
|
UTSW |
4 |
24,682,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1927:Klhl32
|
UTSW |
4 |
24,617,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2137:Klhl32
|
UTSW |
4 |
24,629,275 (GRCm39) |
nonsense |
probably null |
|
|
R3176:Klhl32
|
UTSW |
4 |
24,682,063 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3276:Klhl32
|
UTSW |
4 |
24,682,063 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4059:Klhl32
|
UTSW |
4 |
24,792,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4246:Klhl32
|
UTSW |
4 |
24,800,822 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4597:Klhl32
|
UTSW |
4 |
24,629,339 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4801:Klhl32
|
UTSW |
4 |
24,649,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4802:Klhl32
|
UTSW |
4 |
24,649,698 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4929:Klhl32
|
UTSW |
4 |
24,709,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Klhl32
|
UTSW |
4 |
24,800,805 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6039:Klhl32
|
UTSW |
4 |
24,792,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6039:Klhl32
|
UTSW |
4 |
24,792,615 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6362:Klhl32
|
UTSW |
4 |
24,629,195 (GRCm39) |
missense |
probably null |
1.00 |
|
R6490:Klhl32
|
UTSW |
4 |
24,711,578 (GRCm39) |
intron |
probably benign |
|
|
R6948:Klhl32
|
UTSW |
4 |
24,629,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6981:Klhl32
|
UTSW |
4 |
24,709,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8268:Klhl32
|
UTSW |
4 |
24,800,843 (GRCm39) |
start gained |
probably benign |
|
|
R8379:Klhl32
|
UTSW |
4 |
24,629,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8419:Klhl32
|
UTSW |
4 |
24,682,203 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8553:Klhl32
|
UTSW |
4 |
24,629,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9257:Klhl32
|
UTSW |
4 |
24,649,608 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9460:Klhl32
|
UTSW |
4 |
24,649,866 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9472:Klhl32
|
UTSW |
4 |
24,629,273 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCACCTGTCCATTATGTCAG -3'
(R):5'- TCTAGCTATCAGATGGGTGCAG -3'
Sequencing Primer
(F):5'- GTCAGTTATAAAACCAAACAGATGTG -3'
(R):5'- AGGTTTTTGGAAGTGTTTCAGAAACC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation