Mutagenetix > Incidental Mutation

Incidental Mutation 'R6812:Gm20730'

533839

Institutional Source

Beutler Lab

Gene Symbol

Gm20730

Ensembl Gene

ENSMUSG00000076500

Gene Name

predicted gene, 20730

Synonyms

MMRRC Submission

044924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R6812 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43058452-43059031 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43058722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 30 (V30A)

Ref Sequence

ENSEMBL: ENSMUSP00000100102 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103301]

AlphaFold

A0A075B5J6

Predicted Effect

probably benign
Transcript: ENSMUST00000103301
AA Change: V30A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000100102
Gene: ENSMUSG00000076500
AA Change: V30A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	37	114	2.93e-19	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.0%
20x: 97.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	C	T	16: 56,616,161 (GRCm39)		probably benign	Het
Ak9	A	T	10: 41,243,163 (GRCm39)	M686L	unknown	Het
Ap3b1	A	T	13: 94,616,369 (GRCm39)	T757S	unknown	Het
Apob	A	T	12: 8,033,062 (GRCm39)	K139N	probably damaging	Het
Arid4a	A	G	12: 71,094,037 (GRCm39)	E270G	possibly damaging	Het
Atp1a2	A	T	1: 172,112,444 (GRCm39)	C515S	probably benign	Het
Bicd1	T	C	6: 149,311,035 (GRCm39)	Y37H	probably damaging	Het
Birc2	T	G	9: 7,854,418 (GRCm39)	D424A	probably damaging	Het
Ccdc97	A	T	7: 25,412,469 (GRCm39)	F324L	probably damaging	Het
Crim1	T	A	17: 78,623,029 (GRCm39)	I409N	probably damaging	Het
Cul7	T	A	17: 46,972,335 (GRCm39)	I1233N	probably benign	Het
Dcaf1	T	C	9: 106,735,268 (GRCm39)	S739P	probably damaging	Het
Ddb1	T	C	19: 10,599,863 (GRCm39)		probably null	Het
Dennd5b	T	C	6: 148,982,630 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,795,120 (GRCm39)	S464G	probably benign	Het
Dnah9	C	T	11: 65,872,155 (GRCm39)	V2692M	probably damaging	Het
Dvl2	T	C	11: 69,891,821 (GRCm39)	Y55H	probably damaging	Het
Eif4g3	G	T	4: 137,830,687 (GRCm39)	Q140H	probably damaging	Het
Enpp5	G	A	17: 44,396,467 (GRCm39)	V460M	probably benign	Het
Etv2	G	T	7: 30,333,426 (GRCm39)	C265*	probably null	Het
F12	T	C	13: 55,569,658 (GRCm39)	E146G	probably damaging	Het
Fdps	C	A	3: 89,001,783 (GRCm39)	E301D	possibly damaging	Het
Fsd2	G	T	7: 81,184,837 (GRCm39)	H686Q	probably benign	Het
Gk5	T	C	9: 96,032,802 (GRCm39)	S262P	probably damaging	Het
Gpr68	C	A	12: 100,844,670 (GRCm39)	E291D	probably damaging	Het
Gucy2c	A	G	6: 136,674,993 (GRCm39)	V1006A	probably benign	Het
Itgb1	T	A	8: 129,431,891 (GRCm39)		probably null	Het
Kif2a	A	T	13: 107,106,259 (GRCm39)	D570E	probably benign	Het
Krt8	G	T	15: 101,906,414 (GRCm39)	A365D	probably damaging	Het
Lias	T	A	5: 65,566,132 (GRCm39)	V373E	possibly damaging	Het
Mpl	A	G	4: 118,312,461 (GRCm39)	V169A	probably benign	Het
Myh3	T	A	11: 66,977,228 (GRCm39)	I319N	probably damaging	Het
Myrfl	T	A	10: 116,668,818 (GRCm39)	K315I	probably damaging	Het
Nrap	T	C	19: 56,340,108 (GRCm39)	D803G	probably damaging	Het
Obi1	A	G	14: 104,747,868 (GRCm39)	V40A	unknown	Het
Or5b119	T	C	19: 13,456,975 (GRCm39)	T196A	probably benign	Het
Pald1	A	G	10: 61,178,701 (GRCm39)	S536P	possibly damaging	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Prkaa2	T	A	4: 104,904,349 (GRCm39)	T243S	probably benign	Het
Prrc2b	T	A	2: 32,103,153 (GRCm39)	V877D	probably benign	Het
Rbm27	T	A	18: 42,466,468 (GRCm39)		probably null	Het
Rbm48	A	G	5: 3,646,105 (GRCm39)	V33A	probably benign	Het
Rev3l	G	T	10: 39,699,544 (GRCm39)	R1347L	probably benign	Het
Rtp3	A	G	9: 110,816,180 (GRCm39)	F124L	probably benign	Het
Ryr3	C	T	2: 112,777,251 (GRCm39)	G302D	probably damaging	Het
Scnn1a	A	G	6: 125,314,819 (GRCm39)	N314S	probably benign	Het
Sik3	C	T	9: 46,122,067 (GRCm39)	R907W	probably damaging	Het
Sox5	C	T	6: 144,062,169 (GRCm39)		probably null	Het
Tmc1	A	C	19: 20,878,225 (GRCm39)	L90R	probably damaging	Het
Tmtc2	A	G	10: 105,249,130 (GRCm39)	V201A	probably benign	Het
Uvrag	T	A	7: 98,537,689 (GRCm39)	H502L	probably benign	Het
Vwa8	T	A	14: 79,434,859 (GRCm39)	I1760N	probably damaging	Het
Zfp318	G	GAAGAAT	17: 46,723,468 (GRCm39)		probably benign	Het
Zfp772	T	C	7: 7,209,307 (GRCm39)	D61G	possibly damaging	Het

Other mutations in Gm20730

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0323:Gm20730	UTSW	6	43,058,449 (GRCm39)	splice site	probably null
R3821:Gm20730	UTSW	6	43,058,656 (GRCm39)	missense	probably benign
R3822:Gm20730	UTSW	6	43,058,656 (GRCm39)	missense	probably benign
R5493:Gm20730	UTSW	6	43,058,746 (GRCm39)	missense	possibly damaging	0.68
R5578:Gm20730	UTSW	6	43,058,474 (GRCm39)	missense	probably benign	0.00
R5796:Gm20730	UTSW	6	43,058,464 (GRCm39)	missense	probably damaging	0.99
R6556:Gm20730	UTSW	6	43,058,476 (GRCm39)	missense	probably damaging	1.00
R6836:Gm20730	UTSW	6	43,058,767 (GRCm39)	splice site	probably null
R7615:Gm20730	UTSW	6	43,058,708 (GRCm39)	missense	probably null	0.99
R7809:Gm20730	UTSW	6	43,058,989 (GRCm39)	missense	probably benign	0.00
R8951:Gm20730	UTSW	6	43,058,638 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ATCAGTTCCTGACCCACTGC -3'
(R):5'- AAAGCAGAAGGTCTAGGTGATTTC -3'

Sequencing Primer
(F):5'- ACTGCCACTGAACCTGTCTGG -3'
(R):5'- CAGAAGGTCTAGGTGATTTCTAGAG -3'

Posted On

2018-09-12