Incidental Mutation 'R3810:Klhl35'
ID |
275159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klhl35
|
Ensembl Gene |
ENSMUSG00000035298 |
Gene Name |
kelch-like 35 |
Synonyms |
2810406K13Rik |
MMRRC Submission |
040880-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R3810 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
99115211-99123229 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 99119448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 311
(D311G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041363
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037359]
[ENSMUST00000152424]
|
AlphaFold |
Q9CZ49 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037359
AA Change: D311G
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000041363 Gene: ENSMUSG00000035298 AA Change: D311G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
BTB
|
40 |
141 |
5.82e-17 |
SMART |
BACK
|
146 |
248 |
1.21e-27 |
SMART |
Kelch
|
292 |
341 |
6.32e-2 |
SMART |
Kelch
|
342 |
385 |
1.18e-5 |
SMART |
Kelch
|
386 |
432 |
3.01e-12 |
SMART |
Kelch
|
433 |
480 |
2.23e-1 |
SMART |
Kelch
|
481 |
522 |
2.71e-5 |
SMART |
Kelch
|
523 |
570 |
1.39e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142339
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152424
|
SMART Domains |
Protein: ENSMUSP00000120346 Gene: ENSMUSG00000035298
Domain | Start | End | E-Value | Type |
Pfam:Kelch_1
|
1 |
34 |
1.1e-8 |
PFAM |
Pfam:Kelch_6
|
36 |
79 |
3.6e-8 |
PFAM |
Pfam:Kelch_1
|
38 |
76 |
2.6e-7 |
PFAM |
low complexity region
|
106 |
119 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153736
|
Meta Mutation Damage Score |
0.1000 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (40/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
Ttc21b |
C |
T |
2: 66,082,577 (GRCm39) |
|
probably null |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Klhl35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02127:Klhl35
|
APN |
7 |
99,120,888 (GRCm39) |
splice site |
probably benign |
|
IGL03003:Klhl35
|
APN |
7 |
99,119,550 (GRCm39) |
missense |
probably damaging |
0.98 |
R0268:Klhl35
|
UTSW |
7 |
99,120,958 (GRCm39) |
missense |
probably benign |
0.33 |
R1563:Klhl35
|
UTSW |
7 |
99,120,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R1770:Klhl35
|
UTSW |
7 |
99,123,082 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1901:Klhl35
|
UTSW |
7 |
99,119,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R2392:Klhl35
|
UTSW |
7 |
99,123,031 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4194:Klhl35
|
UTSW |
7 |
99,123,058 (GRCm39) |
splice site |
probably null |
|
R4349:Klhl35
|
UTSW |
7 |
99,122,926 (GRCm39) |
missense |
probably benign |
0.18 |
R4960:Klhl35
|
UTSW |
7 |
99,118,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R5846:Klhl35
|
UTSW |
7 |
99,122,094 (GRCm39) |
missense |
probably damaging |
0.97 |
R6161:Klhl35
|
UTSW |
7 |
99,122,544 (GRCm39) |
unclassified |
probably benign |
|
R6494:Klhl35
|
UTSW |
7 |
99,122,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R7060:Klhl35
|
UTSW |
7 |
99,117,665 (GRCm39) |
missense |
possibly damaging |
0.81 |
R7758:Klhl35
|
UTSW |
7 |
99,122,425 (GRCm39) |
missense |
unknown |
|
R7762:Klhl35
|
UTSW |
7 |
99,117,647 (GRCm39) |
missense |
probably benign |
0.11 |
R8022:Klhl35
|
UTSW |
7 |
99,122,446 (GRCm39) |
missense |
unknown |
|
R8348:Klhl35
|
UTSW |
7 |
99,121,062 (GRCm39) |
missense |
probably damaging |
0.99 |
R8356:Klhl35
|
UTSW |
7 |
99,122,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Klhl35
|
UTSW |
7 |
99,122,055 (GRCm39) |
missense |
probably benign |
0.00 |
R8927:Klhl35
|
UTSW |
7 |
99,120,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8928:Klhl35
|
UTSW |
7 |
99,120,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Klhl35
|
UTSW |
7 |
99,122,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R9202:Klhl35
|
UTSW |
7 |
99,120,212 (GRCm39) |
missense |
probably benign |
0.29 |
R9434:Klhl35
|
UTSW |
7 |
99,119,547 (GRCm39) |
missense |
probably damaging |
1.00 |
R9671:Klhl35
|
UTSW |
7 |
99,117,702 (GRCm39) |
missense |
probably benign |
0.13 |
X0023:Klhl35
|
UTSW |
7 |
99,119,548 (GRCm39) |
nonsense |
probably null |
|
X0064:Klhl35
|
UTSW |
7 |
99,121,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGTTCAGTAATCCCCAGC -3'
(R):5'- TGCTGGACCACACAGTTTTAG -3'
Sequencing Primer
(F):5'- AGTAATCCCCAGCACCGTTTGG -3'
(R):5'- TGGACCACACAGTTTTAGTCACTAAC -3'
|
Posted On |
2015-04-02 |