Mutagenetix > Incidental Mutation

Incidental Mutation 'R9530:Klhl36'

719442

Institutional Source

Beutler Lab

Gene Symbol

Klhl36

Ensembl Gene

ENSMUSG00000031828

Gene Name

kelch-like 36

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R9530 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120589005-120603734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120591808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000034287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034287]

AlphaFold

Q8R124

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034287
AA Change: E17G

PolyPhen 2 Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: E17G

Domain	Start	End	E-Value	Type
BTB	45	142	2.05e-26	SMART
BACK	147	249	1.76e-15	SMART
Kelch	294	343	7.59e-2	SMART
Kelch	344	395	6.67e-5	SMART
Kelch	396	442	2.86e-4	SMART
Kelch	443	491	2.86e-4	SMART
Kelch	492	544	2.23e-1	SMART
Kelch	545	593	1.81e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,274,165 (GRCm39)	N96S	possibly damaging	Het
Acsl6	C	T	11: 54,220,783 (GRCm39)	T301I	probably damaging	Het
Ankrd7	C	A	6: 18,868,258 (GRCm39)	Q127K	probably benign	Het
Ap1s1	T	C	5: 137,064,612 (GRCm39)	M155V	probably benign	Het
Appbp2	A	C	11: 85,107,306 (GRCm39)	C61W	probably damaging	Het
Atosb	C	T	4: 43,034,753 (GRCm39)	R322Q	probably damaging	Het
Ccng1	A	G	11: 40,644,885 (GRCm39)	V4A	probably benign	Het
Cd163	G	T	6: 124,294,491 (GRCm39)	E550*	probably null	Het
Cdh2	A	G	18: 16,783,466 (GRCm39)	Y88H	probably damaging	Het
Cyp2c69	A	G	19: 39,848,311 (GRCm39)	S304P	possibly damaging	Het
Dync2i1	A	G	12: 116,175,411 (GRCm39)	I922T	possibly damaging	Het
Erbb3	T	C	10: 128,410,291 (GRCm39)	I656V	probably benign	Het
Fhod3	T	A	18: 25,248,910 (GRCm39)	I1363K	probably damaging	Het
Garre1	A	G	7: 33,963,069 (GRCm39)	V201A	probably benign	Het
Heatr1	G	A	13: 12,439,607 (GRCm39)	R1395H	probably damaging	Het
Herc4	T	C	10: 63,126,382 (GRCm39)	I578T	probably benign	Het
Herc6	T	A	6: 57,602,899 (GRCm39)	L526*	probably null	Het
Ighv5-9	A	G	12: 113,625,677 (GRCm39)	M22T	probably benign	Het
Mast2	A	C	4: 116,169,535 (GRCm39)	L766R	probably damaging	Het
Megf8	G	A	7: 25,030,124 (GRCm39)	V420M	probably benign	Het
Met	T	C	6: 17,558,831 (GRCm39)	V1153A	probably damaging	Het
Mrpl21	T	A	19: 3,340,998 (GRCm39)	I196N	possibly damaging	Het
Or7g21	G	A	9: 19,033,051 (GRCm39)	V264I	probably benign	Het
Polrmt	C	T	10: 79,574,545 (GRCm39)	A883T	probably benign	Het
Prkcg	G	A	7: 3,375,965 (GRCm39)	D537N	possibly damaging	Het
Rpap3	A	T	15: 97,579,655 (GRCm39)	D452E	probably benign	Het
Slc8a2	A	G	7: 15,879,269 (GRCm39)	D585G	probably null	Het
St18	T	A	1: 6,872,997 (GRCm39)	I244N	probably benign	Het
Stat1	T	A	1: 52,187,160 (GRCm39)		probably null	Het
Stk39	A	G	2: 68,198,755 (GRCm39)	Y288H	probably damaging	Het
Tas2r140	G	A	6: 133,032,494 (GRCm39)	S88F	probably benign	Het
Tbc1d32	T	C	10: 56,072,507 (GRCm39)	E308G	probably damaging	Het
Tcf7l1	T	C	6: 72,604,687 (GRCm39)	T486A	probably benign	Het
Tie1	T	C	4: 118,343,817 (GRCm39)	T42A	possibly damaging	Het
Tnnt2	A	G	1: 135,779,793 (GRCm39)	T297A	possibly damaging	Het
Triobp	G	C	15: 78,886,321 (GRCm39)	G1867R	probably damaging	Het
Vmn1r234	A	G	17: 21,449,104 (GRCm39)	H6R	probably damaging	Het
Vmn2r93	T	A	17: 18,518,562 (GRCm39)	I7N	probably damaging	Het
Vwa8	T	A	14: 79,172,639 (GRCm39)	S294T	probably benign	Het
Yjefn3	A	G	8: 70,340,633 (GRCm39)	V197A	probably benign	Het
Zcchc4	CAGAG	CAG	5: 52,953,568 (GRCm39)		probably null	Het
Zfhx3	A	G	8: 109,527,010 (GRCm39)	E969G	probably damaging	Het
Zfp112	G	T	7: 23,824,665 (GRCm39)	C215F	probably benign	Het
Zfp994	A	T	17: 22,420,514 (GRCm39)	L145Q	probably damaging	Het

Other mutations in Klhl36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Klhl36	APN	8	120,596,755 (GRCm39)	missense	possibly damaging	0.92
IGL02310:Klhl36	APN	8	120,596,356 (GRCm39)	splice site	probably null
IGL02952:Klhl36	APN	8	120,597,223 (GRCm39)	missense	probably benign	0.01
IGL03027:Klhl36	APN	8	120,603,229 (GRCm39)	missense	probably benign	0.33
R0440:Klhl36	UTSW	8	120,603,290 (GRCm39)	missense	probably damaging	1.00
R1918:Klhl36	UTSW	8	120,603,463 (GRCm39)	missense	probably damaging	1.00
R2141:Klhl36	UTSW	8	120,603,511 (GRCm39)	missense	possibly damaging	0.94
R2762:Klhl36	UTSW	8	120,596,713 (GRCm39)	missense	probably damaging	1.00
R4184:Klhl36	UTSW	8	120,601,124 (GRCm39)	missense	probably damaging	0.99
R6268:Klhl36	UTSW	8	120,597,406 (GRCm39)	missense	probably damaging	0.98
R6899:Klhl36	UTSW	8	120,596,881 (GRCm39)	missense	probably benign
R7057:Klhl36	UTSW	8	120,603,536 (GRCm39)	missense	probably benign	0.01
R7152:Klhl36	UTSW	8	120,596,953 (GRCm39)	missense	probably benign	0.13
R7431:Klhl36	UTSW	8	120,597,121 (GRCm39)	missense	probably benign	0.00
R7438:Klhl36	UTSW	8	120,596,914 (GRCm39)	nonsense	probably null
R7751:Klhl36	UTSW	8	120,596,397 (GRCm39)	missense	probably benign	0.08
R7883:Klhl36	UTSW	8	120,601,217 (GRCm39)	missense	possibly damaging	0.65
R8897:Klhl36	UTSW	8	120,597,279 (GRCm39)	missense	probably benign	0.29
R8969:Klhl36	UTSW	8	120,596,887 (GRCm39)	missense	probably damaging	1.00
R9776:Klhl36	UTSW	8	120,601,129 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGGACGGTTTCTTCATTTGC -3'
(R):5'- GCTACCTTCTCAATGAGACCC -3'

Sequencing Primer
(F):5'- ATTTGCTGACAACAGTGCCTG -3'
(R):5'- AGACCCATATTGGTTGGTAAGCCC -3'

Posted On

2022-07-18