Incidental Mutation 'R0908:Klhl32'
| ID |
83386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl32
|
| Ensembl Gene |
ENSMUSG00000040387 |
| Gene Name |
kelch-like 32 |
| Synonyms |
6430524H05Rik, D4Ertd389e, LOC384000 |
| MMRRC Submission |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R0908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
24612554-24851124 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24682092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 197
(D197G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103853
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084781]
[ENSMUST00000108214]
[ENSMUST00000108218]
[ENSMUST00000140652]
[ENSMUST00000150920]
|
| AlphaFold |
A2AJX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084781
AA Change: D164G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000081839
Gene: ENSMUSG00000040387
AA Change: D164G
| 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 damaging
Transcript: ENSMUST00000108214
AA Change: D197G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103849
Gene: ENSMUSG00000040387
AA Change: D197G
| 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 damaging
Transcript: ENSMUST00000108218
AA Change: D197G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103853
Gene: ENSMUSG00000040387
AA Change: D197G
| 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 benign
Transcript: ENSMUST00000140652
|
| SMART Domains |
Protein: ENSMUSP00000137312
Gene: ENSMUSG00000040387
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
42 |
139 |
2.14e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150920
|
| SMART Domains |
Protein: ENSMUSP00000135917
Gene: ENSMUSG00000040387
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BTB
|
1 |
49 |
4e-19 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,469,890 (GRCm39) |
L189P |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
| Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
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 |
|
R1882:Klhl32
|
UTSW |
4 |
24,743,916 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGGTAGCCTTCAGTGACTTGCTTAAC -3'
(R):5'- GGTCCTAATACTAATGGCCCCATCCC -3'
Sequencing Primer
(F):5'- CAGTGACTTGCTTAACTAGGGAG -3'
(R):5'- CCCGTGCCTGTTATAAAAACAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation