Mutagenetix > Incidental Mutation

Incidental Mutation 'R3409:AI429214'

258420

Institutional Source

Beutler Lab

Gene Symbol

AI429214

Ensembl Gene

ENSMUSG00000074384

Gene Name

expressed sequence AI429214

Synonyms

MMRRC Submission

040627-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3409 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37460758-37462687 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37461071 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 73 (S73L)

Ref Sequence

ENSEMBL: ENSMUSP00000096424 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000098825
AA Change: S73L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000096424
Gene: ENSMUSG00000074384
AA Change: S73L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	A	G	5: 50,159,272 (GRCm39)	V326A	probably damaging	Het
Atp13a4	G	T	16: 29,232,567 (GRCm39)	T923K	probably damaging	Het
Ccdc150	A	G	1: 54,395,932 (GRCm39)	D805G	probably benign	Het
Ccdc185	T	G	1: 182,576,313 (GRCm39)	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,436,006 (GRCm39)	C10S	probably damaging	Het
Cpsf1	G	T	15: 76,485,981 (GRCm39)	Y396*	probably null	Het
Dnpep	A	G	1: 75,293,270 (GRCm39)	V33A	probably damaging	Het
Fbn1	G	A	2: 125,254,585 (GRCm39)	A226V	possibly damaging	Het
Frmd4a	A	T	2: 4,157,839 (GRCm39)		probably benign	Het
Gipr	A	G	7: 18,893,719 (GRCm39)	V318A	possibly damaging	Het
Gsdmc4	A	G	15: 63,763,895 (GRCm39)	S401P	probably benign	Het
H2-M10.6	T	A	17: 37,124,893 (GRCm39)	V270E	probably damaging	Het
Klhl7	G	T	5: 24,343,319 (GRCm39)	V212L	probably damaging	Het
Krt10	C	A	11: 99,278,087 (GRCm39)	R322L	probably damaging	Het
Lrrn4	A	G	2: 132,721,781 (GRCm39)	L12P	unknown	Het
Mast2	C	G	4: 116,168,107 (GRCm39)	E881Q	possibly damaging	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Notch3	C	T	17: 32,369,676 (GRCm39)	V772M	possibly damaging	Het
Nrxn1	G	A	17: 90,515,795 (GRCm39)	T19M	probably damaging	Het
Nudcd1	T	C	15: 44,284,207 (GRCm39)	M60V	probably benign	Het
Or10g1	T	A	14: 52,647,818 (GRCm39)	R170S	possibly damaging	Het
Or4c1	A	G	2: 89,133,717 (GRCm39)	F73S	probably benign	Het
Or4c115	T	C	2: 88,927,668 (GRCm39)	N201S	possibly damaging	Het
Or5b101	G	C	19: 13,005,411 (GRCm39)	A94G	probably benign	Het
Or5w8	T	A	2: 87,688,005 (GRCm39)	L162*	probably null	Het
Or8c9	T	A	9: 38,241,640 (GRCm39)	S252R	possibly damaging	Het
Pcdhb6	A	G	18: 37,468,945 (GRCm39)	E622G	probably damaging	Het
Pitrm1	G	A	13: 6,628,517 (GRCm39)	A937T	possibly damaging	Het
Plxnb1	G	A	9: 108,935,681 (GRCm39)		probably null	Het
Ripk3	T	G	14: 56,025,698 (GRCm39)	N54T	probably damaging	Het
Rpn2	C	A	2: 157,132,572 (GRCm39)	A108E	possibly damaging	Het
Scaf11	A	G	15: 96,312,745 (GRCm39)	V1432A	probably damaging	Het
Sec14l5	C	T	16: 4,983,518 (GRCm39)		probably null	Het
Serpina3n	A	G	12: 104,377,536 (GRCm39)	E263G	possibly damaging	Het
Six4	A	G	12: 73,159,657 (GRCm39)	F101S	probably damaging	Het
Slc12a1	A	G	2: 124,996,071 (GRCm39)	T75A	probably benign	Het
Slc26a9	T	C	1: 131,691,682 (GRCm39)	S642P	probably benign	Het
Smu1	T	C	4: 40,752,008 (GRCm39)	T183A	probably benign	Het
Sptb	T	G	12: 76,657,589 (GRCm39)	K1311Q	possibly damaging	Het
Tal2	A	G	4: 53,785,843 (GRCm39)	N8S	probably damaging	Het
Tenm4	A	G	7: 96,544,367 (GRCm39)	T2128A	probably damaging	Het
Tmem67	A	T	4: 12,073,952 (GRCm39)	M288K	probably benign	Het
Ubr1	A	C	2: 120,793,929 (GRCm39)	I85S	probably benign	Het
Vmn2r90	G	T	17: 17,953,638 (GRCm39)	V601L	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het

Other mutations in AI429214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01962:AI429214	APN	8	37,461,383 (GRCm39)	missense	probably damaging	0.98
IGL02508:AI429214	APN	8	37,461,240 (GRCm39)	missense	probably benign
R0973:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R0973:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R0974:AI429214	UTSW	8	37,461,473 (GRCm39)	missense	probably benign	0.29
R2007:AI429214	UTSW	8	37,460,923 (GRCm39)	missense	probably benign	0.29
R2113:AI429214	UTSW	8	37,461,154 (GRCm39)	nonsense	probably null
R2126:AI429214	UTSW	8	37,461,362 (GRCm39)	missense	probably benign	0.00
R2254:AI429214	UTSW	8	37,460,920 (GRCm39)	missense	possibly damaging	0.91
R3411:AI429214	UTSW	8	37,461,071 (GRCm39)	missense	probably benign	0.00
R3852:AI429214	UTSW	8	37,461,596 (GRCm39)	missense	probably damaging	1.00
R4657:AI429214	UTSW	8	37,461,545 (GRCm39)	missense	probably damaging	1.00
R5766:AI429214	UTSW	8	37,461,383 (GRCm39)	frame shift	probably null
R5767:AI429214	UTSW	8	37,461,383 (GRCm39)	frame shift	probably null
R6248:AI429214	UTSW	8	37,461,278 (GRCm39)	missense	probably damaging	1.00
R6888:AI429214	UTSW	8	37,460,987 (GRCm39)	missense	possibly damaging	0.85
R8018:AI429214	UTSW	8	37,460,820 (GRCm39)	start gained	probably benign
R8817:AI429214	UTSW	8	37,461,268 (GRCm39)	missense	probably benign	0.05
R8985:AI429214	UTSW	8	37,460,820 (GRCm39)	start gained	probably benign
R9564:AI429214	UTSW	8	37,461,067 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACTGAGTCCGAGACAATGGG -3'
(R):5'- AGGGCATCCAGTTCTTCTGC -3'

Sequencing Primer
(F):5'- TGGCCACCTGCTCAGAAG -3'
(R):5'- CAGTTCTTCTGCGGATTCCTTAGG -3'

Posted On

2015-01-23