Mutagenetix > Incidental Mutations

Incidental Mutation 'R7568:BC028528'

585573

Institutional Source

Beutler Lab

Gene Symbol

BC028528

Ensembl Gene

ENSMUSG00000038543

Gene Name

cDNA sequence BC028528

Synonyms

L259

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7568 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

95883954-95892005 bp(-) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT to CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT at 95888136 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036360] [ENSMUST00000090476] [ENSMUST00000171519]

Predicted Effect

probably benign
Transcript: ENSMUST00000036360

SMART Domains

Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	145	3.6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090476

SMART Domains

Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171519

SMART Domains

Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.5e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	T	C	16: 38,828,447	E100G	possibly damaging	Het
Actbl2	T	A	13: 111,255,422	V97E	possibly damaging	Het
Actl7a	A	T	4: 56,744,498	T342S	probably damaging	Het
Alcam	A	G	16: 52,268,386	S554P	probably damaging	Het
Ano3	T	C	2: 110,950,293		probably benign	Het
Atad2b	T	A	12: 5,010,390		probably null	Het
Baz2a	T	C	10: 128,125,270	S1621P	possibly damaging	Het
Best1	T	A	19: 9,989,275		probably null	Het
Catip	G	T	1: 74,368,930	E474*	probably null	Het
Comp	A	G	8: 70,373,859	D28G	probably benign	Het
Crebbp	G	A	16: 4,126,489	R600W	probably benign	Het
Cyfip1	A	G	7: 55,872,249		probably null	Het
Ddr1	A	G	17: 35,684,282	S675P	probably damaging	Het
Dhtkd1	A	T	2: 5,922,087		probably null	Het
F2rl1	G	A	13: 95,514,014	A120V	probably damaging	Het
Fam136a	A	G	6: 86,365,802	N24D	probably benign	Het
Fbxw10	C	A	11: 62,875,168	Q755K	probably benign	Het
Fbxw16	C	A	9: 109,439,589	Q244H	possibly damaging	Het
Gabrg2	T	C	11: 41,916,292	K373E	probably benign	Het
Herc3	G	A	6: 58,843,810	V60I	probably benign	Het
Igkv19-93	T	A	6: 68,736,493	K51*	probably null	Het
Krt23	T	A	11: 99,492,800	K89*	probably null	Het
Mavs	A	G	2: 131,245,475	T298A	probably benign	Het
Mlec	T	C	5: 115,150,122	Y198C	probably damaging	Het
Ncam2	C	A	16: 81,589,801	N689K	probably benign	Het
Nfkbia	A	G	12: 55,491,761	I82T	probably damaging	Het
Olfr104-ps	A	G	17: 37,362,605	I163V	probably benign	Het
Olfr1351	A	T	10: 79,017,507	I62F	probably benign	Het
Olfr527	A	G	7: 140,335,982	N40S	probably damaging	Het
Olfr902	A	G	9: 38,449,646	Y258C	probably damaging	Het
Pom121l2	A	T	13: 21,982,626	I356F	probably benign	Het
Ppip5k1	A	T	2: 121,337,615	L719Q	probably damaging	Het
Satb1	A	T	17: 51,782,724	V365D	possibly damaging	Het
Scrn2	T	C	11: 97,030,886	Y61H	probably damaging	Het
Siglec1	C	T	2: 131,072,682	V1505M	probably damaging	Het
Slc2a10	A	G	2: 165,514,882	N154S	probably damaging	Het
Slc39a10	A	T	1: 46,835,130	H337Q	probably benign	Het
Slc39a12	T	A	2: 14,400,128		probably null	Het
Slc6a6	T	G	6: 91,724,851	L80R	probably damaging	Het
Slit1	T	C	19: 41,601,635	Y1404C	probably damaging	Het
Sowahc	A	G	10: 59,223,299	E419G	probably damaging	Het
Ssh1	T	C	5: 113,957,380		probably null	Het
Stab1	C	A	14: 31,152,595	C952F	probably damaging	Het
Stat5a	T	C	11: 100,875,024	M312T	possibly damaging	Het
Tex2	A	G	11: 106,548,736	I606T	unknown	Het
Vmn1r19	A	G	6: 57,404,828	H122R	possibly damaging	Het
Zfp959	A	G	17: 55,897,886	I308V	probably benign	Het

Other mutations in BC028528

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:BC028528	APN	3	95888900	missense	probably damaging	1.00
R0157:BC028528	UTSW	3	95884968	critical splice donor site	probably null
R0164:BC028528	UTSW	3	95887334	intron	probably benign
R0306:BC028528	UTSW	3	95889820	unclassified	probably benign
R1478:BC028528	UTSW	3	95891959	splice site	probably null
R4204:BC028528	UTSW	3	95889745	nonsense	probably null
R4649:BC028528	UTSW	3	95888265	missense	probably damaging	0.99
R5022:BC028528	UTSW	3	95888823	intron	probably benign
R6541:BC028528	UTSW	3	95888218	missense	probably benign	0.00
R6683:BC028528	UTSW	3	95888227	missense	probably damaging	1.00
R6980:BC028528	UTSW	3	95888136	small insertion	probably benign
R6980:BC028528	UTSW	3	95888139	small insertion	probably benign
R6980:BC028528	UTSW	3	95888168	small insertion	probably benign
R7058:BC028528	UTSW	3	95885011	missense	possibly damaging	0.84
R7180:BC028528	UTSW	3	95888136	small insertion	probably benign
R7308:BC028528	UTSW	3	95888136	small insertion	probably benign
R7308:BC028528	UTSW	3	95888152	small insertion	probably benign
R7308:BC028528	UTSW	3	95888169	small insertion	probably benign
R7310:BC028528	UTSW	3	95888136	small insertion	probably benign
R7310:BC028528	UTSW	3	95888139	small insertion	probably benign
R7310:BC028528	UTSW	3	95888148	small insertion	probably benign
R7310:BC028528	UTSW	3	95888173	small insertion	probably benign
R7356:BC028528	UTSW	3	95888136	small insertion	probably benign
R7356:BC028528	UTSW	3	95888141	small insertion	probably benign
R7356:BC028528	UTSW	3	95888158	small insertion	probably benign
R7356:BC028528	UTSW	3	95888165	small insertion	probably benign
R7356:BC028528	UTSW	3	95888175	small insertion	probably benign
R7356:BC028528	UTSW	3	95888183	small insertion	probably benign
R7376:BC028528	UTSW	3	95888136	small insertion	probably benign
R7430:BC028528	UTSW	3	95888136	small insertion	probably benign
R7430:BC028528	UTSW	3	95888169	small insertion	probably benign
R7490:BC028528	UTSW	3	95888136	small insertion	probably benign
R7490:BC028528	UTSW	3	95888166	small insertion	probably benign
R7490:BC028528	UTSW	3	95888186	small insertion	probably benign
R7491:BC028528	UTSW	3	95888136	small insertion	probably benign
R7491:BC028528	UTSW	3	95888138	small insertion	probably benign
R7565:BC028528	UTSW	3	95888136	small insertion	probably benign
R7565:BC028528	UTSW	3	95888138	small insertion	probably benign
R7565:BC028528	UTSW	3	95888144	small insertion	probably benign
R7568:BC028528	UTSW	3	95888151	small insertion	probably benign
R7568:BC028528	UTSW	3	95888172	small insertion	probably benign
R7635:BC028528	UTSW	3	95888136	small insertion	probably benign
R7672:BC028528	UTSW	3	95888136	small insertion	probably benign
R7672:BC028528	UTSW	3	95888143	small insertion	probably benign
R7672:BC028528	UTSW	3	95888175	small insertion	probably benign
R7909:BC028528	UTSW	3	95888136	small insertion	probably benign
R7909:BC028528	UTSW	3	95888163	small insertion	probably benign
R7909:BC028528	UTSW	3	95888164	small insertion	probably benign
R7909:BC028528	UTSW	3	95888168	small insertion	probably benign
R7909:BC028528	UTSW	3	95888177	small insertion	probably benign
R7912:BC028528	UTSW	3	95888136	small insertion	probably benign
R7912:BC028528	UTSW	3	95888138	small insertion	probably benign
R7912:BC028528	UTSW	3	95888140	small insertion	probably benign
R7912:BC028528	UTSW	3	95888142	small insertion	probably benign
R7912:BC028528	UTSW	3	95888144	small insertion	probably benign
R7912:BC028528	UTSW	3	95888154	small insertion	probably benign
R7912:BC028528	UTSW	3	95888171	small insertion	probably benign
R7958:BC028528	UTSW	3	95888912	missense	probably benign	0.01
R8337:BC028528	UTSW	3	95884986	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTCCTCTGTCCTCAACACAG -3'
(R):5'- AATCCTACCGAGGGCAGAAC -3'

Sequencing Primer
(F):5'- CAATTGGAGAATTGCCTCTGTCAG -3'
(R):5'- CTACCGAGGGCAGAACAGGTTG -3'

Posted On

2019-10-17