Incidental Mutation 'R4197:Klhl31'
ID |
318601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl31
|
Ensembl Gene |
ENSMUSG00000044938 |
Gene Name |
kelch-like 31 |
Synonyms |
9830147P19Rik, Kbtbd1, D930047P17Rik |
MMRRC Submission |
041028-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4197 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
77544014-77567407 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77558091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 269
(V269A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059643
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057781]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057781
AA Change: V269A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000059643 Gene: ENSMUSG00000044938 AA Change: V269A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
BTB
|
73 |
167 |
3.39e-18 |
SMART |
BACK
|
172 |
273 |
1.91e-25 |
SMART |
Kelch
|
317 |
365 |
5.58e-1 |
SMART |
Kelch
|
366 |
419 |
4.98e-4 |
SMART |
Kelch
|
420 |
466 |
1.05e-11 |
SMART |
Kelch
|
467 |
513 |
4.01e-8 |
SMART |
Kelch
|
514 |
565 |
1.41e-3 |
SMART |
Kelch
|
566 |
614 |
1.1e0 |
SMART |
low complexity region
|
617 |
633 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.7417 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (42/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccno |
G |
A |
13: 113,125,603 (GRCm39) |
C189Y |
probably damaging |
Het |
Cd36 |
T |
A |
5: 18,018,086 (GRCm39) |
D209V |
probably damaging |
Het |
Depdc5 |
T |
A |
5: 33,148,547 (GRCm39) |
L1561Q |
possibly damaging |
Het |
Dhx34 |
G |
T |
7: 15,937,651 (GRCm39) |
H777N |
probably damaging |
Het |
Dlat |
T |
C |
9: 50,547,826 (GRCm39) |
T610A |
probably damaging |
Het |
Efcab15 |
G |
A |
11: 103,091,966 (GRCm39) |
S94L |
probably benign |
Het |
Fip1l1 |
T |
A |
5: 74,696,397 (GRCm39) |
D19E |
probably damaging |
Het |
Gm5699 |
T |
A |
1: 31,037,726 (GRCm39) |
|
noncoding transcript |
Het |
Grin2a |
A |
C |
16: 9,579,831 (GRCm39) |
F144C |
probably damaging |
Het |
Klhl18 |
A |
T |
9: 110,259,012 (GRCm39) |
|
probably null |
Het |
Lypd10 |
A |
G |
7: 24,413,119 (GRCm39) |
D146G |
probably benign |
Het |
Mmel1 |
T |
C |
4: 154,977,761 (GRCm39) |
I594T |
probably damaging |
Het |
Myo9a |
T |
A |
9: 59,802,149 (GRCm39) |
S1913T |
probably benign |
Het |
Or6a2 |
T |
C |
7: 106,600,245 (GRCm39) |
D274G |
probably damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,581,358 (GRCm39) |
K155E |
probably benign |
Het |
Pdcd10 |
A |
T |
3: 75,424,899 (GRCm39) |
N189K |
possibly damaging |
Het |
Pde3b |
T |
G |
7: 114,130,107 (GRCm39) |
|
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,041,221 (GRCm39) |
N1775S |
probably damaging |
Het |
Polr2a |
T |
C |
11: 69,626,162 (GRCm39) |
S1625G |
unknown |
Het |
Ptpn21 |
G |
T |
12: 98,646,397 (GRCm39) |
H1020Q |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,385,455 (GRCm39) |
P331S |
probably damaging |
Het |
Scel |
A |
T |
14: 103,836,836 (GRCm39) |
N475Y |
probably damaging |
Het |
Sema5a |
A |
G |
15: 32,619,064 (GRCm39) |
T531A |
probably benign |
Het |
Sf3b3 |
A |
T |
8: 111,548,197 (GRCm39) |
L679Q |
probably damaging |
Het |
Sipa1l3 |
A |
T |
7: 29,100,238 (GRCm39) |
D10E |
possibly damaging |
Het |
Slc44a4 |
G |
A |
17: 35,137,228 (GRCm39) |
V84I |
probably benign |
Het |
Slco5a1 |
G |
T |
1: 12,964,740 (GRCm39) |
S512R |
probably damaging |
Het |
Sv2c |
A |
T |
13: 96,114,636 (GRCm39) |
F517I |
probably damaging |
Het |
Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
Tnfsf11 |
A |
T |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Trav13n-4 |
C |
T |
14: 53,601,378 (GRCm39) |
T49I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,716,422 (GRCm39) |
|
probably benign |
Het |
Usp34 |
T |
C |
11: 23,394,189 (GRCm39) |
S2261P |
probably damaging |
Het |
Vmn2r87 |
G |
A |
10: 130,315,779 (GRCm39) |
P96S |
possibly damaging |
Het |
Xrcc6 |
A |
G |
15: 81,913,425 (GRCm39) |
M353V |
probably benign |
Het |
|
Other mutations in Klhl31 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01377:Klhl31
|
APN |
9 |
77,558,013 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01443:Klhl31
|
APN |
9 |
77,557,542 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL01939:Klhl31
|
APN |
9 |
77,562,488 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02806:Klhl31
|
APN |
9 |
77,563,056 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03377:Klhl31
|
APN |
9 |
77,558,345 (GRCm39) |
nonsense |
probably null |
|
itty
|
UTSW |
9 |
77,558,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R0399:Klhl31
|
UTSW |
9 |
77,557,935 (GRCm39) |
missense |
probably benign |
0.05 |
R1596:Klhl31
|
UTSW |
9 |
77,557,356 (GRCm39) |
missense |
probably damaging |
0.97 |
R1598:Klhl31
|
UTSW |
9 |
77,558,298 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2199:Klhl31
|
UTSW |
9 |
77,557,383 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Klhl31
|
UTSW |
9 |
77,557,440 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2269:Klhl31
|
UTSW |
9 |
77,557,440 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3619:Klhl31
|
UTSW |
9 |
77,562,758 (GRCm39) |
missense |
probably benign |
0.00 |
R4279:Klhl31
|
UTSW |
9 |
77,563,121 (GRCm39) |
missense |
unknown |
|
R5195:Klhl31
|
UTSW |
9 |
77,557,572 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5912:Klhl31
|
UTSW |
9 |
77,563,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Klhl31
|
UTSW |
9 |
77,558,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Klhl31
|
UTSW |
9 |
77,557,903 (GRCm39) |
missense |
probably benign |
|
R7967:Klhl31
|
UTSW |
9 |
77,557,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R8766:Klhl31
|
UTSW |
9 |
77,557,445 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9079:Klhl31
|
UTSW |
9 |
77,558,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R9206:Klhl31
|
UTSW |
9 |
77,558,389 (GRCm39) |
nonsense |
probably null |
|
R9387:Klhl31
|
UTSW |
9 |
77,557,826 (GRCm39) |
missense |
probably benign |
0.25 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTACGTTTGAACAGATTAACGAGC -3'
(R):5'- TGCTCCATCCATTTTCAGGG -3'
Sequencing Primer
(F):5'- CGTTTGAACAGATTAACGAGCTTCTC -3'
(R):5'- ACTTCTCAGTCAGGCCGG -3'
|
Posted On |
2015-06-10 |