Incidental Mutation 'R4440:Klhl8'
| ID |
329716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl8
|
| Ensembl Gene |
ENSMUSG00000029312 |
| Gene Name |
kelch-like 8 |
| Synonyms |
D5Ertd431e, 2310001P09Rik |
| MMRRC Submission |
041705-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4440 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104009916-104059137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 104015433 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 421
(I421T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108434
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031254]
[ENSMUST00000112811]
[ENSMUST00000112815]
[ENSMUST00000131843]
|
| AlphaFold |
P59280 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031254
AA Change: I497T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: I497T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
BTB
|
76 |
173 |
1.14e-24 |
SMART |
|
BACK
|
178 |
280 |
7.17e-30 |
SMART |
|
Kelch
|
328 |
375 |
4.01e-8 |
SMART |
|
Kelch
|
376 |
422 |
2.52e-14 |
SMART |
|
Kelch
|
423 |
469 |
3.23e-12 |
SMART |
|
Kelch
|
470 |
516 |
1.03e-10 |
SMART |
|
Kelch
|
517 |
563 |
1.66e-14 |
SMART |
|
Kelch
|
564 |
610 |
6.12e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112811
AA Change: I314T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: I314T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
Kelch
|
145 |
192 |
4.01e-8 |
SMART |
|
Kelch
|
193 |
239 |
2.52e-14 |
SMART |
|
Kelch
|
240 |
286 |
3.23e-12 |
SMART |
|
Kelch
|
287 |
333 |
1.03e-10 |
SMART |
|
Kelch
|
334 |
380 |
1.66e-14 |
SMART |
|
Kelch
|
381 |
427 |
6.12e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112815
AA Change: I421T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: I421T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
BACK
|
102 |
204 |
7.17e-30 |
SMART |
|
Kelch
|
252 |
299 |
4.01e-8 |
SMART |
|
Kelch
|
300 |
346 |
2.52e-14 |
SMART |
|
Kelch
|
347 |
393 |
3.23e-12 |
SMART |
|
Kelch
|
394 |
440 |
1.03e-10 |
SMART |
|
Kelch
|
441 |
487 |
1.66e-14 |
SMART |
|
Kelch
|
488 |
534 |
6.12e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131843
|
| SMART Domains |
Protein: ENSMUSP00000117671
Gene: ENSMUSG00000029312
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147184
|
| Meta Mutation Damage Score |
0.0721 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (46/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
G |
T |
2: 168,026,721 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Afdn |
T |
C |
17: 14,071,152 (GRCm39) |
W782R |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,475,124 (GRCm39) |
W270R |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,786,566 (GRCm39) |
G508C |
probably damaging |
Het |
| Armc8 |
T |
A |
9: 99,366,087 (GRCm39) |
H609L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,305,859 (GRCm39) |
|
probably null |
Het |
| Bicdl2 |
C |
T |
17: 23,886,590 (GRCm39) |
A393V |
probably benign |
Het |
| C6 |
A |
T |
15: 4,764,733 (GRCm39) |
K143M |
possibly damaging |
Het |
| Cfc1 |
T |
A |
1: 34,583,183 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,096,714 (GRCm39) |
I417M |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,345,935 (GRCm39) |
W2307* |
probably null |
Het |
| Dpysl5 |
T |
C |
5: 30,949,612 (GRCm39) |
F461L |
probably damaging |
Het |
| Fip1l1 |
T |
C |
5: 74,697,446 (GRCm39) |
|
probably benign |
Het |
| Fpgs |
C |
T |
2: 32,577,513 (GRCm39) |
C219Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,550 (GRCm39) |
D5761G |
possibly damaging |
Het |
| Hdac4 |
C |
A |
1: 91,873,717 (GRCm39) |
G957C |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,932,216 (GRCm39) |
C1337R |
probably damaging |
Het |
| Lpin3 |
A |
G |
2: 160,740,565 (GRCm39) |
N370S |
probably benign |
Het |
| Man2a2 |
C |
A |
7: 80,001,463 (GRCm39) |
R1148L |
probably benign |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Nav2 |
C |
T |
7: 49,201,785 (GRCm39) |
T1453I |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,225,011 (GRCm39) |
|
probably benign |
Het |
| Ndufaf5 |
T |
A |
2: 140,012,645 (GRCm39) |
V5D |
probably benign |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Ntrk2 |
G |
C |
13: 59,208,126 (GRCm39) |
Q657H |
probably damaging |
Het |
| Or4a75 |
G |
T |
2: 89,448,512 (GRCm39) |
T8K |
probably damaging |
Het |
| Or4c107 |
G |
A |
2: 88,789,685 (GRCm39) |
E292K |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,832 (GRCm39) |
D861G |
probably damaging |
Het |
| Pramel15 |
A |
T |
4: 144,099,437 (GRCm39) |
F443I |
probably benign |
Het |
| Pwwp2b |
T |
C |
7: 138,835,555 (GRCm39) |
I332T |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,238,962 (GRCm39) |
V219A |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,355,686 (GRCm39) |
I245T |
probably benign |
Het |
| Smok3c |
T |
A |
5: 138,062,866 (GRCm39) |
Y118N |
possibly damaging |
Het |
| Taok2 |
C |
T |
7: 126,465,693 (GRCm39) |
R367Q |
possibly damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,254,752 (GRCm39) |
|
probably null |
Het |
| Tbr1 |
A |
T |
2: 61,635,182 (GRCm39) |
D44V |
possibly damaging |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Vmn1r231 |
T |
C |
17: 21,110,718 (GRCm39) |
R66G |
possibly damaging |
Het |
| Xab2 |
T |
C |
8: 3,666,353 (GRCm39) |
E185G |
probably benign |
Het |
|
| Other mutations in Klhl8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0144:Klhl8
|
UTSW |
5 |
104,015,804 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0718:Klhl8
|
UTSW |
5 |
104,024,159 (GRCm39) |
intron |
probably benign |
|
|
R1374:Klhl8
|
UTSW |
5 |
104,011,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1662:Klhl8
|
UTSW |
5 |
104,019,911 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6406:Klhl8
|
UTSW |
5 |
104,010,981 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6961:Klhl8
|
UTSW |
5 |
104,018,435 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7807:Klhl8
|
UTSW |
5 |
104,023,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7863:Klhl8
|
UTSW |
5 |
104,019,968 (GRCm39) |
missense |
probably benign |
|
|
R8217:Klhl8
|
UTSW |
5 |
104,015,466 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8240:Klhl8
|
UTSW |
5 |
104,015,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8241:Klhl8
|
UTSW |
5 |
104,015,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8278:Klhl8
|
UTSW |
5 |
104,022,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8297:Klhl8
|
UTSW |
5 |
104,010,954 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8504:Klhl8
|
UTSW |
5 |
104,015,814 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8539:Klhl8
|
UTSW |
5 |
104,015,392 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8991:Klhl8
|
UTSW |
5 |
104,018,404 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9051:Klhl8
|
UTSW |
5 |
104,015,709 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9176:Klhl8
|
UTSW |
5 |
104,012,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9183:Klhl8
|
UTSW |
5 |
104,012,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Klhl8
|
UTSW |
5 |
104,033,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACATCTCAGGACTGATCC -3'
(R):5'- AGCCGCAGCATTGATTACC -3'
Sequencing Primer
(F):5'- GGACTGATCCACTAAAGGTTGAC -3'
(R):5'- GCAGCATTGATTACCTACCAAAGTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation