Mutagenetix > Incidental Mutation

Incidental Mutation 'R5766:AI429214'

446281

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

044424-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5766 (G1)

Quality Score

217

Status

Not validated

Chromosome

Chromosomal Location

36993604-36995533 bp(+) (GRCm38)

Type of Mutation

frame shift

DNA Base Change (assembly)

TCCCTGATGAAC to TC at 36994229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098825]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000098825

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384

Domain	Start	End	E-Value	Type
low complexity region	72	86	N/A	INTRINSIC
Pfam:DUF4606	175	277	3.7e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209814

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,137,329	W224*	probably null	Het
Aadacl3	A	G	4: 144,455,869	V343A	probably damaging	Het
Arid2	A	G	15: 96,372,205	T1400A	probably benign	Het
Arrdc1	G	A	2: 24,926,405	T184I	probably damaging	Het
Aspm	T	C	1: 139,479,002	F1876L	probably damaging	Het
Calhm1	C	T	19: 47,143,703	V158I	probably benign	Het
Caly	T	C	7: 140,070,397	K211E	probably benign	Het
Cenpe	T	C	3: 135,248,413	L1677P	probably damaging	Het
Cttnbp2	A	G	6: 18,381,033	V1388A	possibly damaging	Het
Dgkd	C	T	1: 87,880,449	R80*	probably null	Het
Dnah3	A	T	7: 119,978,222	I2072N	probably damaging	Het
Dnah8	A	G	17: 30,690,261	I1020M	probably benign	Het
Drc3	T	C	11: 60,393,821	V484A	probably benign	Het
Efcab8	A	G	2: 153,780,992	D27G	possibly damaging	Het
Fat4	G	A	3: 38,889,468	G837R	probably damaging	Het
Fgb	A	T	3: 83,046,176	C96S	probably damaging	Het
Flt4	G	C	11: 49,626,686	W278C	possibly damaging	Het
Fmnl2	T	C	2: 53,101,454	V327A	probably damaging	Het
Fras1	A	T	5: 96,731,689	Y2455F	possibly damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm13872	T	A	2: 102,737,909	I88N	probably damaging	Het
Hoxa6	A	G	6: 52,208,414	S71P	probably benign	Het
Hunk	T	A	16: 90,453,739	C148S	probably damaging	Het
Ighv1-18	A	C	12: 114,682,907	S26A	probably damaging	Het
Impg2	T	G	16: 56,259,820	D553E	possibly damaging	Het
Ints1	A	G	5: 139,772,145	I266T	probably benign	Het
Kpna3	G	T	14: 61,403,014	T33K	probably benign	Het
Lamb1	A	G	12: 31,299,931	D622G	probably damaging	Het
Lamp3	T	C	16: 19,701,317	T39A	probably damaging	Het
Mnt	C	T	11: 74,843,078		probably benign	Het
Msh4	A	G	3: 153,867,840	S726P	probably damaging	Het
Olfr539	T	A	7: 140,667,353	V22E	probably benign	Het
Pah	A	C	10: 87,567,347	K195Q	probably damaging	Het
Pdc	T	A	1: 150,333,500	*245K	probably null	Het
Pdzd8	A	T	19: 59,300,540	H809Q	possibly damaging	Het
Plekhd1	A	T	12: 80,722,366	I467L	probably benign	Het
Ppp2ca	A	G	11: 52,113,187	D57G	probably damaging	Het
Ralgapa1	A	T	12: 55,820,766	M1K	probably null	Het
Rfx2	T	A	17: 56,803,587	D133V	probably benign	Het
Scfd2	A	T	5: 74,462,651	L407Q	probably damaging	Het
Scp2d1	T	A	2: 144,824,037	S99T	possibly damaging	Het
Sec63	A	T	10: 42,801,681	N261I	probably damaging	Het
Slc8a1	T	C	17: 81,648,961	Y216C	probably damaging	Het
Son	T	A	16: 91,664,987		probably benign	Het
Syce1	T	C	7: 140,777,981	E285G	probably damaging	Het
Taar7a	G	T	10: 23,993,362	S40R	probably benign	Het
Ube3a	A	T	7: 59,276,059	D216V	possibly damaging	Het
Vgll2	A	G	10: 52,027,563	D174G	probably damaging	Het
Vmn2r17	A	T	5: 109,427,273	T149S	possibly damaging	Het
Zbtb39	G	T	10: 127,742,688	C377F	probably damaging	Het
Zfp820	T	A	17: 21,820,002	N115I	probably damaging	Het
Zfp948	T	C	17: 21,584,816	S23P	probably benign	Het

Other mutations in AI429214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:AI429214	APN	8	36994229	missense	probably damaging	0.98
IGL02508:AI429214	APN	8	36994086	missense	probably benign
R0973:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R0973:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R0974:AI429214	UTSW	8	36994319	missense	probably benign	0.29
R2007:AI429214	UTSW	8	36993769	missense	probably benign	0.29
R2113:AI429214	UTSW	8	36994000	nonsense	probably null
R2126:AI429214	UTSW	8	36994208	missense	probably benign	0.00
R2254:AI429214	UTSW	8	36993766	missense	possibly damaging	0.91
R3409:AI429214	UTSW	8	36993917	missense	probably benign	0.00
R3411:AI429214	UTSW	8	36993917	missense	probably benign	0.00
R3852:AI429214	UTSW	8	36994442	missense	probably damaging	1.00
R4657:AI429214	UTSW	8	36994391	missense	probably damaging	1.00
R5767:AI429214	UTSW	8	36994229	frame shift	probably null
R6248:AI429214	UTSW	8	36994124	missense	probably damaging	1.00
R6888:AI429214	UTSW	8	36993833	missense	possibly damaging	0.85
R8018:AI429214	UTSW	8	36993666	start gained	probably benign
R8817:AI429214	UTSW	8	36994114	missense	probably benign	0.05
R8985:AI429214	UTSW	8	36993666	start gained	probably benign
R9564:AI429214	UTSW	8	36993913	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCCCTAAGGAATCCGCAGAAG -3'
(R):5'- TCCAACACGGGTGAGAAAGTC -3'

Sequencing Primer
(F):5'- AAGAACTGGATGCCCTGC -3'
(R):5'- CTCTTGGAGTAGTAGTGACTGCAG -3'

Posted On

2016-11-21