Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01302:Fam222a'

73269

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam222a

Ensembl Gene

ENSMUSG00000041930

Gene Name

family with sequence similarity 222, member A

Synonyms

BC057022

Accession Numbers

Essential gene?

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

Stock #

IGL01302

Quality Score

Status

Chromosome

Chromosomal Location

114706312-114751281 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 114732514 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 23 (L23Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045724 (fasta)

Gene Model

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

AlphaFold

Q6PGH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043650
AA Change: L23Q

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045724
Gene: ENSMUSG00000041930
AA Change: L23Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130983

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,470 (GRCm39)		probably benign	Het
Abcb5	T	A	12: 118,881,935 (GRCm39)	D598V	probably damaging	Het
Adss1	T	C	12: 112,601,170 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,020,711 (GRCm39)	S1141T	probably benign	Het
Avil	T	C	10: 126,852,903 (GRCm39)		probably null	Het
Avl9	C	A	6: 56,702,075 (GRCm39)	H77N	probably damaging	Het
Cacna1e	A	G	1: 154,319,653 (GRCm39)	V1349A	probably damaging	Het
Cdc23	A	C	18: 34,767,697 (GRCm39)	S483A	probably benign	Het
Cep192	C	T	18: 67,991,974 (GRCm39)	P1951S	probably benign	Het
Cp	A	G	3: 20,020,531 (GRCm39)	T175A	probably damaging	Het
Dubr	A	C	16: 50,552,998 (GRCm39)		noncoding transcript	Het
Eif4g2	G	T	7: 110,673,920 (GRCm39)	Q695K	possibly damaging	Het
Endod1	A	T	9: 14,268,535 (GRCm39)	S317T	possibly damaging	Het
Ep400	T	C	5: 110,889,914 (GRCm39)	T450A	probably benign	Het
Erc1	A	C	6: 119,699,264 (GRCm39)	V790G	probably damaging	Het
Fancf	A	G	7: 51,511,035 (GRCm39)	V323A	probably benign	Het
Grik2	T	A	10: 49,120,426 (GRCm39)	Q621L	probably damaging	Het
Gsk3b	G	T	16: 38,040,380 (GRCm39)	R319L	probably benign	Het
Ikzf1	A	G	11: 11,718,923 (GRCm39)	Y297C	probably damaging	Het
Katnal2	T	C	18: 77,134,863 (GRCm39)		probably benign	Het
Lrba	G	T	3: 86,202,707 (GRCm39)	C289F	probably damaging	Het
Mos	T	C	4: 3,871,815 (GRCm39)		probably benign	Het
Mycn	T	C	12: 12,987,587 (GRCm39)	D270G	possibly damaging	Het
Or52e15	A	T	7: 104,645,928 (GRCm39)	M61K	probably damaging	Het
Or6c207	T	A	10: 129,104,392 (GRCm39)	I267F	probably benign	Het
Pclo	A	G	5: 14,726,013 (GRCm39)		probably benign	Het
Pgm1	A	G	4: 99,786,803 (GRCm39)	D14G	probably damaging	Het
Pramel7	T	A	2: 87,321,717 (GRCm39)	D106V	possibly damaging	Het
Prdm9	G	T	17: 15,773,608 (GRCm39)	H263N	probably benign	Het
Psd4	T	A	2: 24,286,799 (GRCm39)		probably null	Het
Ptprc	G	A	1: 138,027,369 (GRCm39)	T493I	possibly damaging	Het
Rbbp8	T	A	18: 11,855,036 (GRCm39)	S420R	probably benign	Het
Sap30bp	A	G	11: 115,853,373 (GRCm39)	T219A	probably damaging	Het
Shld2	C	T	14: 33,981,684 (GRCm39)	V485I	probably benign	Het
Slc2a7	T	A	4: 150,242,021 (GRCm39)	L200Q	probably damaging	Het
Slc38a6	T	A	12: 73,335,299 (GRCm39)		probably null	Het
Tatdn2	T	A	6: 113,680,985 (GRCm39)		probably benign	Het
Thrb	A	G	14: 18,011,056 (GRCm38)		probably benign	Het
Timp4	T	C	6: 115,223,269 (GRCm39)	Y218C	possibly damaging	Het
Tlr5	A	G	1: 182,802,313 (GRCm39)	D525G	probably benign	Het
Usp32	G	T	11: 84,879,308 (GRCm39)	T1467N	probably benign	Het
Vmn2r78	A	G	7: 86,564,569 (GRCm39)	I5V	unknown	Het
Zbtb43	T	C	2: 33,344,103 (GRCm39)	H374R	probably benign	Het
Zfhx4	C	A	3: 5,308,628 (GRCm39)	T618K	probably damaging	Het

Other mutations in Fam222a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R3087:Fam222a	UTSW	5	114,750,015 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07