Incidental Mutation 'R0315:Klhl2'
| ID |
25405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klhl2
|
| Ensembl Gene |
ENSMUSG00000031605 |
| Gene Name |
kelch-like 2, Mayven |
| Synonyms |
Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik |
| MMRRC Submission |
038525-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0315 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
65192709-65302669 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 65196053 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 563
(Y563*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034017]
[ENSMUST00000210166]
|
| AlphaFold |
Q8JZP3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034017
AA Change: Y563*
|
| SMART Domains |
Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: Y563*
| 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 |
probably null
Transcript: ENSMUST00000210166
AA Change: Y563*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.9%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
G |
A |
17: 45,826,378 (GRCm39) |
R409Q |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,838,347 (GRCm39) |
Q825L |
probably damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,545,667 (GRCm39) |
I107V |
probably benign |
Het |
| Bub1b |
A |
T |
2: 118,457,457 (GRCm39) |
|
probably benign |
Het |
| Cd86 |
C |
T |
16: 36,441,306 (GRCm39) |
V54I |
possibly damaging |
Het |
| Dpys |
T |
G |
15: 39,720,734 (GRCm39) |
I9L |
probably benign |
Het |
| Fbxl17 |
G |
A |
17: 63,663,846 (GRCm39) |
R67C |
probably damaging |
Het |
| Flg2 |
G |
T |
3: 93,122,029 (GRCm39) |
G1400C |
unknown |
Het |
| Gm28042 |
T |
C |
2: 119,869,538 (GRCm39) |
L634P |
probably damaging |
Het |
| Gm6712 |
G |
A |
17: 17,536,380 (GRCm39) |
|
noncoding transcript |
Het |
| Gpbp1 |
T |
G |
13: 111,573,072 (GRCm39) |
E360A |
possibly damaging |
Het |
| Hmgn1 |
A |
C |
16: 95,926,017 (GRCm39) |
I52R |
probably benign |
Het |
| Ing2 |
A |
C |
8: 48,122,125 (GRCm39) |
M141R |
probably benign |
Het |
| Lrrc9 |
A |
G |
12: 72,502,802 (GRCm39) |
T258A |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,624 (GRCm39) |
I1699N |
unknown |
Het |
| Map2k5 |
A |
T |
9: 63,210,433 (GRCm39) |
H185Q |
probably damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Mroh1 |
C |
T |
15: 76,311,800 (GRCm39) |
A511V |
possibly damaging |
Het |
| Nop53 |
T |
C |
7: 15,679,235 (GRCm39) |
D90G |
probably damaging |
Het |
| Or10k2 |
T |
C |
8: 84,268,001 (GRCm39) |
V76A |
possibly damaging |
Het |
| Or5b97 |
A |
T |
19: 12,878,598 (GRCm39) |
V182D |
possibly damaging |
Het |
| Or5w20 |
A |
T |
2: 87,727,410 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
| Pkd2 |
T |
A |
5: 104,607,716 (GRCm39) |
S72T |
possibly damaging |
Het |
| Prc1 |
T |
C |
7: 79,963,284 (GRCm39) |
S587P |
probably damaging |
Het |
| Rdh7 |
G |
T |
10: 127,724,265 (GRCm39) |
T73K |
possibly damaging |
Het |
| Runx1 |
T |
C |
16: 92,402,655 (GRCm39) |
N429S |
probably damaging |
Het |
| Skint7 |
G |
A |
4: 111,845,315 (GRCm39) |
A376T |
possibly damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,890,217 (GRCm39) |
I363V |
possibly damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,634,970 (GRCm39) |
Q350* |
probably null |
Het |
| Soat1 |
T |
A |
1: 156,268,083 (GRCm39) |
K275* |
probably null |
Het |
| Speg |
T |
C |
1: 75,391,780 (GRCm39) |
V1571A |
possibly damaging |
Het |
| Stat5b |
G |
C |
11: 100,679,286 (GRCm39) |
D605E |
probably benign |
Het |
| Susd4 |
G |
A |
1: 182,686,077 (GRCm39) |
R209H |
probably benign |
Het |
| Tlr1 |
T |
G |
5: 65,084,271 (GRCm39) |
D102A |
probably damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,401,462 (GRCm39) |
N154D |
probably damaging |
Het |
| Tmigd3 |
T |
A |
3: 105,824,085 (GRCm39) |
M18K |
probably damaging |
Het |
| Ube2h |
A |
T |
6: 30,241,412 (GRCm39) |
V86E |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,643,283 (GRCm39) |
L613P |
probably damaging |
Het |
| Vmn2r117 |
G |
A |
17: 23,679,139 (GRCm39) |
S695L |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,213,825 (GRCm39) |
D427G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,079,314 (GRCm39) |
F2403I |
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 |
|
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 |
|
R2979:Klhl2
|
UTSW |
8 |
65,275,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AATGCCAGTGCTTCTGTGAATACACAC -3'
(R):5'- TAGGTAGCTCCAGCCCTCGTTTCAAC -3'
Sequencing Primer
(F):5'- TTCTGTGAATACACACACCCAAG -3'
(R):5'- atgtaaagttgtggtgactaagtg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation