Incidental Mutation 'R6494:Klhl35'
| ID |
522960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl35
|
| Ensembl Gene |
ENSMUSG00000035298 |
| Gene Name |
kelch-like 35 |
| Synonyms |
2810406K13Rik |
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R6494 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
99115211-99123229 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 99122106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 69
(W69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120346
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032998]
[ENSMUST00000037359]
[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 damaging
Transcript: ENSMUST00000037359
AA Change: W502L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041363
Gene: ENSMUSG00000035298
AA Change: W502L
| 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 damaging
Transcript: ENSMUST00000152424
AA Change: W69L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120346
Gene: ENSMUSG00000035298
AA Change: W69L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt2 |
T |
C |
7: 27,315,774 (GRCm39) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,204,943 (GRCm39) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,417,487 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,261,709 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,138,591 (GRCm39) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,990,845 (GRCm39) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,928,523 (GRCm39) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,951,226 (GRCm39) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,887,390 (GRCm39) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,800,280 (GRCm39) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,907,423 (GRCm39) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,337,769 (GRCm39) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,745 (GRCm39) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,684,792 (GRCm39) |
R448* |
probably null |
Het |
| Kpnb1 |
T |
C |
11: 97,072,474 (GRCm39) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,608,186 (GRCm39) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm39) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,543,744 (GRCm39) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,531,035 (GRCm39) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,885,671 (GRCm39) |
E766V |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,139,520 (GRCm39) |
N149I |
possibly damaging |
Het |
| Or12e14 |
A |
T |
2: 87,187,976 (GRCm39) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,841,594 (GRCm39) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,509,429 (GRCm39) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,472,588 (GRCm39) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 47,222,007 (GRCm39) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,359,640 (GRCm39) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,172,886 (GRCm39) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,363,076 (GRCm39) |
L80* |
probably null |
Het |
| Setdb2 |
T |
A |
14: 59,639,863 (GRCm39) |
Y676F |
probably benign |
Het |
| Skint1 |
G |
T |
4: 111,867,909 (GRCm39) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,779,651 (GRCm39) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,266,211 (GRCm39) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,705,246 (GRCm39) |
S228T |
probably benign |
Het |
| Spata31g1 |
A |
G |
4: 42,971,924 (GRCm39) |
N419S |
possibly damaging |
Het |
| Spg11 |
A |
G |
2: 121,943,706 (GRCm39) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,986,725 (GRCm39) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,202,703 (GRCm39) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,461,666 (GRCm39) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 23,960,782 (GRCm39) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,018 (GRCm39) |
K762N |
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 |
|
|
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 |
|
|
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'- TAGCAGAGCAGTTCAGGGTG -3'
(R):5'- AAATGAGAGGTGATTTGTCACTGG -3'
Sequencing Primer
(F):5'- CAGGGTGAGGCTCTTTTACCAC -3'
(R):5'- TTTGTCACTGGGAGGACAAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation