Incidental Mutation 'R8539:Klhl8'
| ID |
659322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl8
|
| Ensembl Gene |
ENSMUSG00000029312 |
| Gene Name |
kelch-like 8 |
| Synonyms |
D5Ertd431e, 2310001P09Rik |
| MMRRC Submission |
068505-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
104009916-104059137 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 104015392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 511
(V511I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031254]
[ENSMUST00000112811]
[ENSMUST00000112815]
[ENSMUST00000131843]
|
| AlphaFold |
P59280 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031254
AA Change: V511I
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000031254
Gene: ENSMUSG00000029312
AA Change: V511I
| 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 |
possibly damaging
Transcript: ENSMUST00000112811
AA Change: V328I
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000108430
Gene: ENSMUSG00000029312
AA Change: V328I
| 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 damaging
Transcript: ENSMUST00000112815
AA Change: V435I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108434
Gene: ENSMUSG00000029312
AA Change: V435I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
G |
A |
13: 4,484,474 (GRCm39) |
|
probably null |
Het |
| Amz1 |
T |
C |
5: 140,734,412 (GRCm39) |
L215S |
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,251 (GRCm39) |
D92G |
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,642,552 (GRCm39) |
D26G |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,211,652 (GRCm39) |
R191C |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,356,117 (GRCm39) |
D242G |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Galnt13 |
A |
T |
2: 54,823,584 (GRCm39) |
|
probably null |
Het |
| Hcrt |
T |
A |
11: 100,652,051 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
A |
G |
5: 115,108,576 (GRCm39) |
|
probably null |
Het |
| Hykk |
A |
G |
9: 54,844,444 (GRCm39) |
S170G |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,653,596 (GRCm39) |
Q45K |
probably benign |
Het |
| Loxl3 |
A |
T |
6: 83,026,507 (GRCm39) |
M488L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,721,668 (GRCm39) |
P1221S |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,164,254 (GRCm39) |
I1050F |
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,959,520 (GRCm39) |
C319G |
probably benign |
Het |
| Ndufaf5 |
C |
A |
2: 140,025,894 (GRCm39) |
T151K |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,375,329 (GRCm39) |
D364E |
possibly damaging |
Het |
| Nudt21 |
G |
A |
8: 94,763,601 (GRCm39) |
|
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,257,343 (GRCm39) |
I43V |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,362,919 (GRCm39) |
V1060E |
probably damaging |
Het |
| Plxnd1 |
G |
C |
6: 115,939,768 (GRCm39) |
P1404A |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,152,770 (GRCm39) |
V523A |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,299,084 (GRCm39) |
I819T |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,467,840 (GRCm39) |
K767* |
probably null |
Het |
| Sema5a |
T |
A |
15: 32,618,989 (GRCm39) |
W506R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sult1b1 |
C |
A |
5: 87,681,838 (GRCm39) |
V67F |
possibly damaging |
Het |
| Suz12 |
T |
A |
11: 79,889,904 (GRCm39) |
D13E |
probably damaging |
Het |
| Tap1 |
C |
T |
17: 34,408,409 (GRCm39) |
A216V |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,553 (GRCm39) |
L448P |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,596,152 (GRCm39) |
V182M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,736,778 (GRCm39) |
F4329L |
probably benign |
Het |
| Usp21 |
C |
T |
1: 171,111,246 (GRCm39) |
E396K |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,281 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r106 |
C |
A |
17: 20,499,271 (GRCm39) |
R213S |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,274 (GRCm39) |
M244K |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,748,784 (GRCm39) |
V117D |
probably damaging |
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 |
|
R4440:Klhl8
|
UTSW |
5 |
104,015,433 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- GGCACTGGTTTTCTTGAAGC -3'
(R):5'- AGAAATCCATCTGAAATCTGTCGC -3'
Sequencing Primer
(F):5'- TTTGAGACAGGGTCACACTATGC -3'
(R):5'- ATCTGAAATCTGTCGCATGCTTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation