Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Klhl2'

535753

Institutional Source

Beutler Lab

Gene Symbol

Klhl2

Ensembl Gene

ENSMUSG00000031605

Gene Name

kelch-like 2, Mayven

Synonyms

Mav, 8530402H02Rik, ABP-KELCH, 6030411N21Rik

MMRRC Submission

044963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6863 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65192709-65302669 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65275743 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 53 (N53K)

Ref Sequence

ENSEMBL: ENSMUSP00000147262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034017] [ENSMUST00000210166]

AlphaFold

Q8JZP3

Predicted Effect

probably benign
Transcript: ENSMUST00000034017
AA Change: N53K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034017
Gene: ENSMUSG00000031605
AA Change: N53K

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 benign
Transcript: ENSMUST00000210166
AA Change: N53K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,277,627 (GRCm39)	Y278*	probably null	Het
Agap3	A	T	5: 24,657,461 (GRCm39)	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,657,462 (GRCm39)	Y86*	probably null	Het
Ahnak	T	C	19: 8,989,729 (GRCm39)		probably benign	Het
Arhgap45	G	T	10: 79,853,616 (GRCm39)	E43D	probably benign	Het
Cacna1d	A	C	14: 29,797,809 (GRCm39)	I1426S	probably damaging	Het
Calhm5	C	A	10: 33,968,451 (GRCm39)	A201S	probably benign	Het
Cdkn2a	T	C	4: 89,193,003 (GRCm39)	E159G	probably benign	Het
Cep85l	C	A	10: 53,225,214 (GRCm39)	W125L	probably damaging	Het
Ces1g	C	T	8: 94,043,647 (GRCm39)	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,584,929 (GRCm39)	A21V	possibly damaging	Het
Ctsc	T	A	7: 87,951,486 (GRCm39)	Y243*	probably null	Het
Ctu1	A	G	7: 43,326,046 (GRCm39)	E235G	probably damaging	Het
Degs2	T	C	12: 108,668,457 (GRCm39)	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,137,351 (GRCm39)	F235L	probably damaging	Het
Dpp8	T	C	9: 64,942,290 (GRCm39)	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,618,614 (GRCm39)	I3288T	probably benign	Het
Ebpl	A	T	14: 61,597,751 (GRCm39)	L30Q	probably damaging	Het
Eif1ad15	T	C	12: 88,287,968 (GRCm39)	Y95C	probably damaging	Het
Etaa1	T	A	11: 17,903,794 (GRCm39)	M1L	probably benign	Het
Etl4	A	G	2: 20,811,120 (GRCm39)	T1068A	probably benign	Het
Eya1	C	A	1: 14,341,199 (GRCm39)		probably null	Het
Fat1	G	T	8: 45,497,501 (GRCm39)	V4329L	probably damaging	Het
Fras1	A	T	5: 96,691,165 (GRCm39)	Q127L	probably benign	Het
Gm1110	T	G	9: 26,792,360 (GRCm39)	Y590S	probably damaging	Het
Gm14410	G	A	2: 176,885,860 (GRCm39)	Q135*	probably null	Het
Greb1	A	T	12: 16,734,421 (GRCm39)	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,182,854 (GRCm39)	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,618,029 (GRCm39)	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif17	T	A	4: 137,997,195 (GRCm39)	Y139*	probably null	Het
Lrit2	G	T	14: 36,793,901 (GRCm39)	G322C	probably damaging	Het
Macir	T	C	1: 97,574,030 (GRCm39)	T12A	probably benign	Het
Matcap1	T	C	8: 106,012,435 (GRCm39)	D4G	probably damaging	Het
Mgam	A	T	6: 40,705,943 (GRCm39)	Q4L	probably benign	Het
Mst1r	A	G	9: 107,797,225 (GRCm39)	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mydgf	C	A	17: 56,490,789 (GRCm39)	V35L	probably damaging	Het
Nmt2	T	A	2: 3,306,341 (GRCm39)		probably null	Het
Or10s1	A	G	9: 39,986,110 (GRCm39)	Y173C	probably damaging	Het
Or52ad1	C	T	7: 102,996,123 (GRCm39)	C4Y	possibly damaging	Het
Pik3r2	T	C	8: 71,223,058 (GRCm39)	Y454C	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,437,206 (GRCm39)	S50T	probably benign	Het
Scaf11	T	C	15: 96,317,300 (GRCm39)	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163 (GRCm39)	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,264,001 (GRCm39)	K239E	probably damaging	Het
Slc44a4	T	A	17: 35,142,798 (GRCm39)	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,684,107 (GRCm39)	Y288*	probably null	Het
Sptbn1	T	C	11: 30,096,777 (GRCm39)	M267V	possibly damaging	Het
Taok2	C	T	7: 126,471,109 (GRCm39)	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,397,030 (GRCm39)	I819F	probably damaging	Het
Themis2	A	T	4: 132,516,907 (GRCm39)	W198R	probably damaging	Het
Timd4	C	G	11: 46,706,270 (GRCm39)	S24*	probably null	Het
Tnrc18	T	C	5: 142,800,952 (GRCm39)	D2G	probably damaging	Het
Wdr35	A	G	12: 9,040,047 (GRCm39)	D384G	probably damaging	Het
Zfp560	C	A	9: 20,259,795 (GRCm39)	V356F	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
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
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'- ATAAGGGACCGACTCTTGAGG -3'
(R):5'- ATTTCTGTGACAGGGCCAGG -3'

Sequencing Primer
(F):5'- GACCGACTCTTGAGGCTCTC -3'
(R):5'- GCCAGGCCTTTATTTAGCTTATAG -3'

Posted On

2018-10-18