Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01887:Atosa'

179166

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Atosa

Ensembl Gene

ENSMUSG00000034858

Gene Name

atos homolog A

Synonyms

C130047D21Rik, Fam214a, 6330415I01Rik, BC031353

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

IGL01887

Quality Score

Status

Chromosome

Chromosomal Location

74860166-74939750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74924339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 861 (I861V)

Ref Sequence

ENSEMBL: ENSMUSP00000080442 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081746] [ENSMUST00000170846] [ENSMUST00000214755] [ENSMUST00000215370]

AlphaFold

Q69ZK7

Predicted Effect

probably benign
Transcript: ENSMUST00000081746
AA Change: I861V

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: I861V

Domain	Start	End	E-Value	Type
low complexity region	349	360	N/A	INTRINSIC
internal_repeat_1	361	458	7.22e-14	PROSPERO
internal_repeat_1	473	570	7.22e-14	PROSPERO
low complexity region	840	859	N/A	INTRINSIC
DUF4210	885	943	8.5e-29	SMART
Pfam:Chromosome_seg	1024	1081	3.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170846
AA Change: I854V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: I854V

Domain	Start	End	E-Value	Type
low complexity region	342	353	N/A	INTRINSIC
internal_repeat_1	354	451	8.38e-14	PROSPERO
internal_repeat_1	466	563	8.38e-14	PROSPERO
low complexity region	833	852	N/A	INTRINSIC
DUF4210	878	936	8.5e-29	SMART
Pfam:Chromosome_seg	1016	1074	1.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214755
AA Change: I854V

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000215370
AA Change: I854V

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Appl2	C	A	10: 83,457,386 (GRCm39)		probably benign	Het
Faap20	T	C	4: 155,340,657 (GRCm39)	V158A	probably damaging	Het
Filip1	A	T	9: 79,726,899 (GRCm39)	D573E	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Lins1	T	C	7: 66,360,129 (GRCm39)	I168T	probably damaging	Het
Myo5b	A	G	18: 74,848,007 (GRCm39)	R1082G	probably benign	Het
Or5aq1	A	G	2: 86,965,885 (GRCm39)	I260T	possibly damaging	Het
Or8k39	A	G	2: 86,563,030 (GRCm39)	C309R	probably benign	Het
Pomt2	C	T	12: 87,166,363 (GRCm39)	V439I	probably damaging	Het
Rars1	A	T	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Shisal1	A	G	15: 84,290,851 (GRCm39)	L152P	probably damaging	Het
Slf1	A	T	13: 77,249,101 (GRCm39)	N362K	probably benign	Het
Smad2	T	C	18: 76,432,965 (GRCm39)	V299A	probably damaging	Het
Tead2	T	C	7: 44,881,734 (GRCm39)	V84A	probably damaging	Het
Tnni3k	A	T	3: 154,580,824 (GRCm39)		probably null	Het
Trp63	C	T	16: 25,684,069 (GRCm39)	R319C	probably damaging	Het
Vmn1r203	G	A	13: 22,709,046 (GRCm39)	V276I	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zfp318	G	T	17: 46,710,094 (GRCm39)	V606L	probably benign	Het

Other mutations in Atosa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Atosa	APN	9	74,933,072 (GRCm39)	missense	probably benign	0.28
IGL00588:Atosa	APN	9	74,916,863 (GRCm39)	missense	probably damaging	1.00
IGL02828:Atosa	APN	9	74,913,714 (GRCm39)	missense	probably damaging	1.00
IGL03060:Atosa	APN	9	74,917,450 (GRCm39)	missense	probably damaging	0.96
IGL03277:Atosa	APN	9	74,916,514 (GRCm39)	missense	probably damaging	1.00
R0052:Atosa	UTSW	9	74,926,265 (GRCm39)	splice site	probably benign
R0052:Atosa	UTSW	9	74,926,265 (GRCm39)	splice site	probably benign
R0615:Atosa	UTSW	9	74,911,570 (GRCm39)	missense	probably damaging	1.00
R0723:Atosa	UTSW	9	74,916,733 (GRCm39)	missense	probably damaging	1.00
R1428:Atosa	UTSW	9	74,913,603 (GRCm39)	missense	probably benign	0.07
R1448:Atosa	UTSW	9	74,917,456 (GRCm39)	nonsense	probably null
R1656:Atosa	UTSW	9	74,916,241 (GRCm39)	missense	probably benign	0.00
R2024:Atosa	UTSW	9	74,917,672 (GRCm39)	missense	probably damaging	0.98
R3147:Atosa	UTSW	9	74,916,120 (GRCm39)	missense	probably benign	0.25
R3745:Atosa	UTSW	9	74,917,144 (GRCm39)	missense	probably benign	0.00
R4105:Atosa	UTSW	9	74,916,058 (GRCm39)	missense	probably damaging	1.00
R4224:Atosa	UTSW	9	74,916,008 (GRCm39)	missense	probably damaging	1.00
R4496:Atosa	UTSW	9	74,938,813 (GRCm39)	missense	probably damaging	0.99
R4519:Atosa	UTSW	9	74,930,929 (GRCm39)	missense	probably damaging	1.00
R4715:Atosa	UTSW	9	74,920,250 (GRCm39)	missense	probably damaging	1.00
R4885:Atosa	UTSW	9	74,913,649 (GRCm39)	missense	probably damaging	1.00
R5009:Atosa	UTSW	9	74,916,171 (GRCm39)	missense	probably damaging	0.98
R5574:Atosa	UTSW	9	74,917,672 (GRCm39)	missense	probably damaging	1.00
R5645:Atosa	UTSW	9	74,932,961 (GRCm39)	missense	probably damaging	1.00
R5696:Atosa	UTSW	9	74,917,399 (GRCm39)	missense	probably benign	0.01
R5891:Atosa	UTSW	9	74,911,668 (GRCm39)	missense	probably damaging	1.00
R5936:Atosa	UTSW	9	74,916,586 (GRCm39)	missense	probably benign	0.00
R6165:Atosa	UTSW	9	74,932,954 (GRCm39)	missense	probably damaging	0.96
R6228:Atosa	UTSW	9	74,913,645 (GRCm39)	missense	possibly damaging	0.94
R6419:Atosa	UTSW	9	74,916,619 (GRCm39)	missense	probably benign	0.20
R6499:Atosa	UTSW	9	74,930,930 (GRCm39)	missense	probably damaging	1.00
R6631:Atosa	UTSW	9	74,861,107 (GRCm39)	missense	possibly damaging	0.71
R6649:Atosa	UTSW	9	74,917,432 (GRCm39)	missense	probably damaging	0.96
R6849:Atosa	UTSW	9	74,916,594 (GRCm39)	missense	probably damaging	0.96
R7189:Atosa	UTSW	9	74,911,633 (GRCm39)	missense	probably damaging	0.99
R7402:Atosa	UTSW	9	74,913,668 (GRCm39)	nonsense	probably null
R8691:Atosa	UTSW	9	74,917,335 (GRCm39)	missense	probably benign	0.09
R8769:Atosa	UTSW	9	74,933,107 (GRCm39)	missense	probably damaging	1.00
R8944:Atosa	UTSW	9	74,911,562 (GRCm39)	missense	probably damaging	1.00
R9323:Atosa	UTSW	9	74,883,415 (GRCm39)	intron	probably benign
R9621:Atosa	UTSW	9	74,917,512 (GRCm39)	missense	possibly damaging	0.62
R9649:Atosa	UTSW	9	74,924,349 (GRCm39)	missense	possibly damaging	0.74

Posted On

2014-05-07