Mutagenetix > Incidental Mutation

Incidental Mutation 'R3087:Fam222a'

262861

Institutional Source

Beutler Lab

Gene Symbol

Fam222a

Ensembl Gene

ENSMUSG00000041930

Gene Name

family with sequence similarity 222, member A

Synonyms

BC057022

MMRRC Submission

040576-MU

Accession Numbers

Essential gene?

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

Stock #

R3087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114706312-114751281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114750015 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 404 (S404G)

Ref Sequence

ENSEMBL: ENSMUSP00000045724 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043650]

AlphaFold

Q6PGH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000043650
AA Change: S404G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000045724
Gene: ENSMUSG00000041930
AA Change: S404G

Domain	Start	End	E-Value	Type
Pfam:FAM222A	30	157	8e-42	PFAM
low complexity region	181	202	N/A	INTRINSIC
low complexity region	261	276	N/A	INTRINSIC
low complexity region	288	298	N/A	INTRINSIC

Meta Mutation Damage Score

0.1293

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (29/30)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aknad1	C	T	3: 108,664,179 (GRCm39)	Q381*	probably null	Het
Arhgef39	C	T	4: 43,497,581 (GRCm39)		probably null	Het
Cblif	A	T	19: 11,737,737 (GRCm39)	K383*	probably null	Het
Ccdc85a	G	T	11: 28,342,857 (GRCm39)	C113*	probably null	Het
Cdc16	T	C	8: 13,809,004 (GRCm39)	Y19H	probably damaging	Het
Ces2e	T	A	8: 105,657,347 (GRCm39)	M289K	probably benign	Het
Cyp2u1	G	A	3: 131,096,676 (GRCm39)	A34V	probably benign	Het
Dkk2	A	C	3: 131,791,900 (GRCm39)	N36T	probably damaging	Het
Fbll1	A	T	11: 35,689,017 (GRCm39)	V82E	probably damaging	Het
Flt3	A	G	5: 147,284,856 (GRCm39)	S754P	probably benign	Het
Fmo5	T	C	3: 97,549,011 (GRCm39)	W220R	probably damaging	Het
Gm7275	A	G	16: 47,894,098 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,897,433 (GRCm39)		probably benign	Het
Ifi44l	T	C	3: 151,468,494 (GRCm39)	H12R	unknown	Het
Itsn2	T	C	12: 4,716,303 (GRCm39)	Y1021H	probably damaging	Het
Map4	T	C	9: 109,882,257 (GRCm39)	S374P	possibly damaging	Het
Map4k4	A	T	1: 40,060,242 (GRCm39)		probably null	Het
Mast4	G	T	13: 102,990,434 (GRCm39)		probably benign	Het
Mdfic	T	A	6: 15,799,668 (GRCm39)	L265H	probably damaging	Het
Pabpc2	A	G	18: 39,907,319 (GRCm39)	I195V	probably benign	Het
Pramel25	A	G	4: 143,520,416 (GRCm39)	D56G	probably benign	Het
Prdm1	T	C	10: 44,322,823 (GRCm39)	Y224C	probably damaging	Het
Spidr	T	C	16: 15,786,483 (GRCm39)	Y420C	probably damaging	Het
Tlr6	A	T	5: 65,111,668 (GRCm39)	M413K	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vmn1r11	A	C	6: 57,114,691 (GRCm39)	K81N	possibly damaging	Het
Vmn2r107	G	A	17: 20,580,607 (GRCm39)	E515K	probably benign	Het
Vstm4	T	C	14: 32,614,592 (GRCm39)	V178A	possibly damaging	Het

Other mutations in Fam222a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01302:Fam222a	APN	5	114,732,514 (GRCm39)	missense	possibly damaging	0.77
PIT4585001:Fam222a	UTSW	5	114,749,101 (GRCm39)	missense	probably damaging	1.00
R2296:Fam222a	UTSW	5	114,749,027 (GRCm39)	missense	possibly damaging	0.89
R4837:Fam222a	UTSW	5	114,732,458 (GRCm39)	nonsense	probably null
R5201:Fam222a	UTSW	5	114,749,127 (GRCm39)	missense	possibly damaging	0.67
R5516:Fam222a	UTSW	5	114,749,889 (GRCm39)	missense	probably damaging	1.00
R8984:Fam222a	UTSW	5	114,749,092 (GRCm39)	missense	possibly damaging	0.49
R9217:Fam222a	UTSW	5	114,748,905 (GRCm39)	missense	probably benign
R9332:Fam222a	UTSW	5	114,749,398 (GRCm39)	missense	probably damaging	0.99
R9561:Fam222a	UTSW	5	114,749,347 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTTGGAACAGTGTTCTGG -3'
(R):5'- AAAGAAGCCCTGGTGTGTG -3'

Sequencing Primer
(F):5'- AACAGTGTTCTGGTGACACC -3'
(R):5'- TGTGCTATGGCCTGGCAAC -3'

Posted On

2015-02-05