Incidental Mutation 'R3619:Klhl31'
| ID |
268565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl31
|
| Ensembl Gene |
ENSMUSG00000044938 |
| Gene Name |
kelch-like 31 |
| Synonyms |
9830147P19Rik, Kbtbd1, D930047P17Rik |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
143 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
77544014-77567407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 77562758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 508
(A508S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059643
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057781]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057781
AA Change: A508S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000059643
Gene: ENSMUSG00000044938
AA Change: A508S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,110,484 (GRCm39) |
|
probably null |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
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 |
|
R4197:Klhl31
|
UTSW |
9 |
77,558,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ACTTCAGCCTGAGCGTGTTC -3'
(R):5'- TTCAGATACTGACCGGCACG -3'
Sequencing Primer
(F):5'- TTCAACGGGCTGCTGTAC -3'
(R):5'- ACACGCTGTTGGGCATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation