Incidental Mutation 'R2979:Klhl2'
| ID |
257040 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl2
|
| Ensembl Gene |
ENSMUSG00000031605 |
| Gene Name |
kelch-like 2, Mayven |
| Synonyms |
Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2979 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
65192709-65302669 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 65275730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 58
(V58I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034017]
[ENSMUST00000210166]
|
| AlphaFold |
Q8JZP3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034017
AA Change: V58I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: V58I
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
56 |
153 |
9.65e-32 |
SMART |
|
BACK
|
158 |
260 |
1.28e-40 |
SMART |
|
Kelch
|
308 |
353 |
1.09e-9 |
SMART |
|
Kelch
|
354 |
400 |
1.28e-15 |
SMART |
|
Kelch
|
401 |
447 |
1.58e-15 |
SMART |
|
Kelch
|
448 |
496 |
3.15e-15 |
SMART |
|
Kelch
|
497 |
543 |
3.25e-17 |
SMART |
|
Kelch
|
544 |
591 |
1.43e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209544
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210166
AA Change: V58I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
A |
G |
5: 90,670,022 (GRCm39) |
I48V |
probably benign |
Het |
| Arhgef1 |
A |
G |
7: 24,607,176 (GRCm39) |
E16G |
unknown |
Het |
| Cps1 |
T |
C |
1: 67,243,863 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 66,008,414 (GRCm39) |
K804E |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm18025 |
G |
T |
12: 34,340,970 (GRCm39) |
P41Q |
probably damaging |
Het |
| Kdm4c |
A |
T |
4: 74,291,965 (GRCm39) |
R861* |
probably null |
Het |
| Msl1 |
G |
A |
11: 98,691,050 (GRCm39) |
G178E |
possibly damaging |
Het |
| Nacad |
T |
A |
11: 6,551,424 (GRCm39) |
Q589L |
probably benign |
Het |
| Pros1 |
A |
G |
16: 62,734,229 (GRCm39) |
D345G |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,122,556 (GRCm39) |
Y439C |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,051,995 (GRCm39) |
M376K |
probably benign |
Het |
| Srd5a1 |
T |
C |
13: 69,748,418 (GRCm39) |
Q127R |
probably damaging |
Het |
| Synm |
T |
G |
7: 67,386,008 (GRCm39) |
R551S |
probably damaging |
Het |
| Trmt1 |
A |
G |
8: 85,423,511 (GRCm39) |
Y301C |
probably damaging |
Het |
| Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
| Txnl1 |
T |
C |
18: 63,804,691 (GRCm39) |
T268A |
probably benign |
Het |
| Zbbx |
C |
A |
3: 74,985,793 (GRCm39) |
E420* |
probably null |
Het |
| Zc3h7a |
A |
T |
16: 10,976,837 (GRCm39) |
V153E |
probably damaging |
Het |
|
| Other mutations in Klhl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00500:Klhl2
|
APN |
8 |
65,202,120 (GRCm39) |
missense |
probably benign |
|
|
IGL01111:Klhl2
|
APN |
8 |
65,202,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01620:Klhl2
|
APN |
8 |
65,232,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Klhl2
|
APN |
8 |
65,212,858 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02333:Klhl2
|
APN |
8 |
65,212,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02664:Klhl2
|
APN |
8 |
65,205,801 (GRCm39) |
nonsense |
probably null |
|
|
IGL02828:Klhl2
|
APN |
8 |
65,232,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Klhl2
|
APN |
8 |
65,207,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0315:Klhl2
|
UTSW |
8 |
65,196,053 (GRCm39) |
nonsense |
probably null |
|
|
R0482:Klhl2
|
UTSW |
8 |
65,211,164 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1803:Klhl2
|
UTSW |
8 |
65,212,831 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1853:Klhl2
|
UTSW |
8 |
65,275,658 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2155:Klhl2
|
UTSW |
8 |
65,202,804 (GRCm39) |
missense |
probably benign |
0.38 |
|
R2965:Klhl2
|
UTSW |
8 |
65,205,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3980:Klhl2
|
UTSW |
8 |
65,196,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Klhl2
|
UTSW |
8 |
65,196,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Klhl2
|
UTSW |
8 |
65,207,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Klhl2
|
UTSW |
8 |
65,211,225 (GRCm39) |
nonsense |
probably null |
|
|
R4825:Klhl2
|
UTSW |
8 |
65,205,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Klhl2
|
UTSW |
8 |
65,287,111 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5448:Klhl2
|
UTSW |
8 |
65,275,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5945:Klhl2
|
UTSW |
8 |
65,202,762 (GRCm39) |
missense |
probably benign |
|
|
R5961:Klhl2
|
UTSW |
8 |
65,202,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Klhl2
|
UTSW |
8 |
65,205,801 (GRCm39) |
nonsense |
probably null |
|
|
R6290:Klhl2
|
UTSW |
8 |
65,264,351 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6334:Klhl2
|
UTSW |
8 |
65,212,842 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6595:Klhl2
|
UTSW |
8 |
65,196,077 (GRCm39) |
nonsense |
probably null |
|
|
R6847:Klhl2
|
UTSW |
8 |
65,212,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6863:Klhl2
|
UTSW |
8 |
65,275,743 (GRCm39) |
missense |
probably benign |
|
|
R7086:Klhl2
|
UTSW |
8 |
65,275,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7493:Klhl2
|
UTSW |
8 |
65,202,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8061:Klhl2
|
UTSW |
8 |
65,211,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Klhl2
|
UTSW |
8 |
65,202,084 (GRCm39) |
missense |
probably benign |
|
|
R9391:Klhl2
|
UTSW |
8 |
65,275,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Klhl2
|
UTSW |
8 |
65,205,870 (GRCm39) |
nonsense |
probably null |
|
|
R9469:Klhl2
|
UTSW |
8 |
65,196,069 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9510:Klhl2
|
UTSW |
8 |
65,202,113 (GRCm39) |
missense |
probably benign |
|
|
R9602:Klhl2
|
UTSW |
8 |
65,205,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Klhl2
|
UTSW |
8 |
65,211,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTCTTGAGGCTCTCCCTTTATAG -3'
(R):5'- ATTTCTGTGACAGGGCCAGG -3'
Sequencing Primer
(F):5'- GTTCTTCACTTCATAAAACCCAAACG -3'
(R):5'- GCCAGGCCTTTATTTAGCTTATAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation