Incidental Mutation 'R4349:Klhl35'
| ID |
328438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl35
|
| Ensembl Gene |
ENSMUSG00000035298 |
| Gene Name |
kelch-like 35 |
| Synonyms |
2810406K13Rik |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99115211-99123229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99122926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 517
(V517M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032998]
[ENSMUST00000037359]
[ENSMUST00000107096]
[ENSMUST00000152424]
|
| AlphaFold |
Q9CZ49 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032998
|
| SMART Domains |
Protein: ENSMUSP00000032998
Gene: ENSMUSG00000030744
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
42 |
111 |
2.83e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037359
AA Change: V517M
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000041363
Gene: ENSMUSG00000035298
AA Change: V517M
| 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 |
probably benign
Transcript: ENSMUST00000107096
|
| SMART Domains |
Protein: ENSMUSP00000102713
Gene: ENSMUSG00000030744
| Domain | Start | End | E-Value | Type |
|---|
|
KH
|
42 |
111 |
2.83e-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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pacsin1 |
G |
A |
17: 27,925,978 (GRCm39) |
V107I |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
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 |
|
R3810:Klhl35
|
UTSW |
7 |
99,119,448 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4194:Klhl35
|
UTSW |
7 |
99,123,058 (GRCm39) |
splice site |
probably null |
|
|
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'- TGGCTAAGATCAAATGAAGGCTATG -3'
(R):5'- TTCTGAGTCATCGGCTCAGG -3'
Sequencing Primer
(F):5'- TGCCATATTCAATGTAGAGGATGG -3'
(R):5'- AGTCATCGGCTCAGGCTCTG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation