Mutagenetix > Incidental Mutation

Incidental Mutation 'R6899:Klhl36'

541021

Institutional Source

Beutler Lab

Gene Symbol

Klhl36

Ensembl Gene

ENSMUSG00000031828

Gene Name

kelch-like 36

Synonyms

MMRRC Submission

044993-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.804) question?

Stock #

R6899 (G1)

Quality Score

116.008

Status

Validated

Chromosome

Chromosomal Location

120589005-120603734 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120596881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 194 (V194A)

Ref Sequence

ENSEMBL: ENSMUSP00000034287 (fasta)

Gene Model

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

AlphaFold

Q8R124

Predicted Effect

probably benign
Transcript: ENSMUST00000034287
AA Change: V194A

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

SMART Domains

Protein: ENSMUSP00000034287
Gene: ENSMUSG00000031828
AA Change: V194A

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: 99.0%
20x: 95.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,264 (GRCm39)	Y1140C	probably damaging	Het
Actl9	G	A	17: 33,652,533 (GRCm39)	G198S	probably damaging	Het
Adcy2	A	T	13: 69,130,500 (GRCm39)	M129K	probably damaging	Het
Apmap	T	A	2: 150,436,228 (GRCm39)	I107F	probably benign	Het
Arrdc3	T	C	13: 81,037,330 (GRCm39)	I162T	probably damaging	Het
Asprv1	T	C	6: 86,605,742 (GRCm39)	L196P	probably damaging	Het
Atpsckmt	A	G	15: 31,617,257 (GRCm39)	S163G	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Borcs5	T	A	6: 134,687,173 (GRCm39)	M177K	probably benign	Het
C8b	A	T	4: 104,644,071 (GRCm39)	K246M	probably benign	Het
Cdo1	A	G	18: 46,856,407 (GRCm39)	C76R	probably damaging	Het
Ces2b	T	A	8: 105,563,398 (GRCm39)		probably null	Het
Csf2rb	G	A	15: 78,224,902 (GRCm39)	S194N	probably benign	Het
Dap3	A	G	3: 88,840,907 (GRCm39)	F77L	probably benign	Het
Dars1	A	G	1: 128,341,483 (GRCm39)	V44A	possibly damaging	Het
Dhtkd1	T	A	2: 5,922,776 (GRCm39)	D461V	possibly damaging	Het
Ero1a	A	C	14: 45,530,396 (GRCm39)	H345Q	probably benign	Het
Fzd8	T	A	18: 9,214,729 (GRCm39)	S604T	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gramd1c	T	A	16: 43,860,505 (GRCm39)	Y64F	probably benign	Het
Heatr5b	T	A	17: 79,110,938 (GRCm39)	Y970F	probably benign	Het
Hoxc10	A	G	15: 102,875,942 (GRCm39)	E217G	possibly damaging	Het
Hsd17b14	A	T	7: 45,212,352 (GRCm39)	H128L	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ifna9	A	G	4: 88,510,300 (GRCm39)	F108S	probably damaging	Het
Ikbke	A	G	1: 131,203,499 (GRCm39)	V58A	probably damaging	Het
Inpp5e	G	A	2: 26,290,060 (GRCm39)	R462C	possibly damaging	Het
Junb	A	G	8: 85,704,353 (GRCm39)	F236L	probably benign	Het
Lsg1	A	T	16: 30,400,906 (GRCm39)	D134E	probably benign	Het
Megf8	G	T	7: 25,060,138 (GRCm39)	C2343F	probably damaging	Het
Mtres1	T	C	10: 43,408,780 (GRCm39)	E121G	possibly damaging	Het
Myom3	G	A	4: 135,530,603 (GRCm39)	G1172R	probably damaging	Het
Nasp	A	T	4: 116,461,530 (GRCm39)	V548E	probably damaging	Het
Nubpl	T	A	12: 52,357,536 (GRCm39)	S317T	probably benign	Het
Nup210l	A	G	3: 90,075,204 (GRCm39)	D838G	possibly damaging	Het
Oxsr1	C	T	9: 119,076,188 (GRCm39)	A373T	probably benign	Het
Psat1	C	T	19: 15,895,569 (GRCm39)		probably null	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Slain1	C	T	14: 103,888,215 (GRCm39)	P45L	possibly damaging	Het
Slc16a8	A	G	15: 79,137,949 (GRCm39)	V20A	possibly damaging	Het
Slc22a13	A	T	9: 119,025,473 (GRCm39)	M145K	probably damaging	Het
Slc22a4	G	A	11: 53,879,739 (GRCm39)	T440I	probably damaging	Het
Slc39a12	C	T	2: 14,394,352 (GRCm39)	P74L	probably damaging	Het
Sod3	A	G	5: 52,526,050 (GRCm39)	T250A	unknown	Het
Syne2	A	G	12: 76,142,503 (GRCm39)		probably null	Het
Tctn1	A	G	5: 122,387,019 (GRCm39)	Y299H	probably damaging	Het
Tfcp2l1	A	G	1: 118,603,305 (GRCm39)	M448V	probably benign	Het
Tfpi	C	T	2: 84,275,153 (GRCm39)	G152S	probably damaging	Het
Thap4	A	G	1: 93,678,691 (GRCm39)	S32P	probably damaging	Het
Tmem132c	T	A	5: 127,628,744 (GRCm39)	W549R	probably damaging	Het
Vmn2r29	T	C	7: 7,244,641 (GRCm39)	E411G	probably damaging	Het
Washc4	C	A	10: 83,411,919 (GRCm39)	D683E	probably benign	Het
Wdr3	A	T	3: 100,057,217 (GRCm39)	V462D	possibly damaging	Het
Wdr5b	T	C	16: 35,862,150 (GRCm39)	S90P	probably damaging	Het
Zfp407	A	G	18: 84,579,559 (GRCm39)	L518P	possibly damaging	Het
Zfp53	A	G	17: 21,728,707 (GRCm39)	I247V	possibly 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
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
R9530:Klhl36	UTSW	8	120,591,808 (GRCm39)	missense	possibly damaging	0.68
R9776:Klhl36	UTSW	8	120,601,129 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCTGTGAGTACCTGGAG -3'
(R):5'- TAGCAGGTGTCATCGCTCAG -3'

Sequencing Primer
(F):5'- CTGGAGCAGGAGGTGAGC -3'
(R):5'- AGAGAGCACATGGCCAGCTTC -3'

Posted On

2018-11-28