Mutagenetix > Incidental Mutation

Incidental Mutation 'R2024:Atosa'

220301

Institutional Source

Beutler Lab

Gene Symbol

Atosa

Ensembl Gene

ENSMUSG00000034858

Gene Name

atos homolog A

Synonyms

C130047D21Rik, Fam214a, 6330415I01Rik, BC031353

MMRRC Submission

040033-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.539) question?

Stock #

R2024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74860166-74939750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74917672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 757 (D757G)

Ref Sequence

ENSEMBL: ENSMUSP00000150065 (fasta)

Gene Model

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

AlphaFold

Q69ZK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000081746
AA Change: D764G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: D764G

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 damaging
Transcript: ENSMUST00000170846
AA Change: D757G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: D757G

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 damaging
Transcript: ENSMUST00000214755
AA Change: D757G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215370
AA Change: D757G

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 90.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,259,680 (GRCm39)	D280G	probably damaging	Het
Azi2	C	T	9: 117,878,390 (GRCm39)	R77*	probably null	Het
Chd8	T	C	14: 52,468,950 (GRCm39)	D556G	probably benign	Het
Cit	T	C	5: 116,085,983 (GRCm39)	M849T	probably damaging	Het
Cit	T	C	5: 116,143,899 (GRCm39)	S1923P	probably damaging	Het
Col17a1	T	A	19: 47,639,185 (GRCm39)	H1120L	probably benign	Het
Col6a5	G	T	9: 105,814,193 (GRCm39)	H606Q	unknown	Het
Dnajc2	A	C	5: 21,981,788 (GRCm39)	H45Q	probably damaging	Het
Dpp6	A	G	5: 27,914,457 (GRCm39)	D514G	possibly damaging	Het
Dync2h1	A	G	9: 7,129,062 (GRCm39)	S1818P	probably damaging	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Emc1	G	A	4: 139,088,257 (GRCm39)	E342K	possibly damaging	Het
Fam3c	T	C	6: 22,329,592 (GRCm39)	D45G	probably benign	Het
Fchsd2	A	C	7: 100,847,740 (GRCm39)	D210A	possibly damaging	Het
Flg	T	A	3: 93,186,722 (GRCm39)	M58K	probably damaging	Het
Gabra5	G	A	7: 57,138,698 (GRCm39)	R117C	probably damaging	Het
Gm6741	G	A	17: 91,544,309 (GRCm39)	S24N	probably benign	Het
Grin2a	T	C	16: 9,462,107 (GRCm39)	D675G	possibly damaging	Het
Hectd4	T	G	5: 121,419,981 (GRCm39)	V642G	possibly damaging	Het
Herc6	C	T	6: 57,560,317 (GRCm39)	T119M	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmgcs2	T	C	3: 98,206,530 (GRCm39)	S371P	probably damaging	Het
Idua	C	T	5: 108,828,600 (GRCm39)	A271V	probably damaging	Het
Inpp5d	T	A	1: 87,623,072 (GRCm39)	C125*	probably null	Het
Krt14	C	T	11: 100,098,044 (GRCm39)	G80R	unknown	Het
Lama5	T	C	2: 179,820,923 (GRCm39)	Y3176C	probably benign	Het
Lce1k	C	T	3: 92,713,809 (GRCm39)	C125Y	unknown	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Meioc	C	T	11: 102,566,184 (GRCm39)	A600V	probably benign	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Mms22l	A	G	4: 24,588,365 (GRCm39)	Y999C	probably damaging	Het
Ncbp3	T	A	11: 72,944,346 (GRCm39)	M116K	possibly damaging	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nkx3-1	T	C	14: 69,428,266 (GRCm39)	I38T	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k49	T	A	2: 111,495,168 (GRCm39)	M199K	possibly damaging	Het
Padi6	T	G	4: 140,456,279 (GRCm39)	I572L	possibly damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pkd1l2	A	G	8: 117,746,272 (GRCm39)	V1906A	probably benign	Het
Pom121	T	C	5: 135,410,404 (GRCm39)		probably benign	Het
Psmd9	T	C	5: 123,379,925 (GRCm39)	F115L	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rai1	T	C	11: 60,076,415 (GRCm39)	F160L	probably damaging	Het
Rhbdl2	A	T	4: 123,720,665 (GRCm39)	R234S	probably damaging	Het
Rnase2a	T	A	14: 51,493,245 (GRCm39)	Y40F	probably damaging	Het
Setd2	T	C	9: 110,378,201 (GRCm39)	V672A	possibly damaging	Het
Sgpp2	A	G	1: 78,393,857 (GRCm39)	I287V	probably benign	Het
Sh3pxd2a	T	C	19: 47,255,703 (GRCm39)	E1033G	probably benign	Het
Slc5a9	G	A	4: 111,747,728 (GRCm39)	T284I	probably damaging	Het
Slfn9	A	G	11: 82,872,507 (GRCm39)	L743P	probably damaging	Het
Smchd1	T	A	17: 71,677,923 (GRCm39)	N1473I	probably benign	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tectb	T	C	19: 55,170,361 (GRCm39)	F71L	probably damaging	Het
Tmem220	T	C	11: 66,924,979 (GRCm39)	I138T	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Tnc	A	G	4: 63,882,858 (GRCm39)	V1921A	probably damaging	Het
Ubn1	T	G	16: 4,882,487 (GRCm39)	L316W	probably damaging	Het
Vwa5a	T	C	9: 38,647,357 (GRCm39)	S579P	probably damaging	Het
Xdh	A	G	17: 74,228,300 (GRCm39)	L367P	possibly damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp990	A	C	4: 145,263,974 (GRCm39)	Y324S	possibly damaging	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
IGL01887:Atosa	APN	9	74,924,339 (GRCm39)	missense	probably benign	0.39
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
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

Predicted Primers

PCR Primer
(F):5'- TCCGTCATCTCCAGTGTGATG -3'
(R):5'- ACCACACTGGGTACTCTACAG -3'

Sequencing Primer
(F):5'- TGACTCTGCTGGAAATGCCTGAC -3'
(R):5'- TCTACAGATAACAGGTACCCTTGGG -3'

Posted On

2014-08-25