Mutagenetix > Incidental Mutation

Incidental Mutation 'R9323:Atosa'

706331

Institutional Source

Beutler Lab

Gene Symbol

Atosa

Ensembl Gene

ENSMUSG00000034858

Gene Name

atos homolog A

Synonyms

C130047D21Rik, Fam214a, 6330415I01Rik, BC031353

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9323 (G1)

Quality Score

168.009

Status

Not validated

Chromosome

Chromosomal Location

74860166-74939750 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 74883415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149021 (fasta)

Gene Model

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

AlphaFold

Q69ZK7

Predicted Effect

probably benign
Transcript: ENSMUST00000081746

SMART Domains

Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858

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

SMART Domains

Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858

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

Predicted Effect

probably benign
Transcript: ENSMUST00000215370

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	G	A	16: 8,420,235 (GRCm39)	W178*	probably null	Het
Alx1	G	A	10: 102,858,124 (GRCm39)	R192*	probably null	Het
Apom	A	G	17: 35,350,633 (GRCm39)	C23R	probably damaging	Het
Asap2	A	G	12: 21,162,148 (GRCm39)	N35S	probably benign	Het
Atf6	A	T	1: 170,682,682 (GRCm39)	Y43*	probably null	Het
Bag4	T	C	8: 26,261,361 (GRCm39)	S127G	possibly damaging	Het
Bag4	G	T	8: 26,275,180 (GRCm39)	S7*	probably null	Het
Ccdc88b	A	G	19: 6,826,475 (GRCm39)	L1080P	probably damaging	Het
Cdcp3	T	A	7: 130,828,401 (GRCm39)	N285K	probably damaging	Het
Cdkl2	A	T	5: 92,168,107 (GRCm39)	D362E	probably benign	Het
Cep170	A	G	1: 176,586,068 (GRCm39)	S575P	probably benign	Het
Col4a2	C	T	8: 11,493,413 (GRCm39)	P1374L	possibly damaging	Het
Cpt2	T	C	4: 107,761,556 (GRCm39)	H617R	probably benign	Het
Cyp2d22	A	G	15: 82,258,207 (GRCm39)	S138P	probably damaging	Het
Cyp2j11	T	C	4: 96,195,619 (GRCm39)	D359G	probably benign	Het
Ddb2	T	C	2: 91,042,337 (GRCm39)	S419G	possibly damaging	Het
Dmrtc2	A	T	7: 24,572,341 (GRCm39)	I121F	probably benign	Het
Dus1l	C	T	11: 120,684,724 (GRCm39)	R149H	probably damaging	Het
Fam90a1a	T	A	8: 22,453,640 (GRCm39)	Y332N	probably benign	Het
Fbxo47	A	T	11: 97,770,254 (GRCm39)	V46D	probably benign	Het
Grep1	A	G	17: 23,937,387 (GRCm39)	S54P	unknown	Het
Grpel1	T	A	5: 36,628,007 (GRCm39)	V96E	possibly damaging	Het
Ifi207	A	T	1: 173,555,143 (GRCm39)	N853K	probably damaging	Het
Igkv4-80	C	T	6: 68,993,751 (GRCm39)	A47T	probably damaging	Het
Il1a	T	A	2: 129,149,826 (GRCm39)	I25F	probably benign	Het
Ireb2	T	A	9: 54,811,523 (GRCm39)		probably null	Het
Itpr1	A	G	6: 108,328,979 (GRCm39)	Y131C	probably damaging	Het
Kmt2a	T	C	9: 44,731,261 (GRCm39)		probably benign	Het
Lancl1	T	A	1: 67,077,794 (GRCm39)		probably benign	Het
Lpl	G	A	8: 69,340,196 (GRCm39)	V64M	possibly damaging	Het
Marchf10	T	C	11: 105,280,581 (GRCm39)	H568R	probably damaging	Het
Mib1	G	A	18: 10,775,685 (GRCm39)	V546M	probably damaging	Het
Mss51	A	T	14: 20,534,939 (GRCm39)	I277N	probably benign	Het
Mybpc1	A	G	10: 88,360,829 (GRCm39)		probably null	Het
Myct1	A	C	10: 5,554,195 (GRCm39)	I21L	probably benign	Het
Myo5c	C	A	9: 75,153,531 (GRCm39)	A139E	probably damaging	Het
Nlrp4e	C	G	7: 23,020,755 (GRCm39)	A414G	probably benign	Het
Npy2r	A	T	3: 82,447,728 (GRCm39)	I349N	possibly damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Or10g7	T	C	9: 39,905,360 (GRCm39)	S85P	possibly damaging	Het
Or14j2	A	C	17: 37,886,135 (GRCm39)	Y60D	probably damaging	Het
Or52n20	T	C	7: 104,320,220 (GRCm39)	F104L	possibly damaging	Het
Or5p6	C	T	7: 107,631,230 (GRCm39)	V107I	probably benign	Het
Or6c3b	A	T	10: 129,527,829 (GRCm39)	V27D	probably benign	Het
Or8d23	T	C	9: 38,841,818 (GRCm39)	V117A	probably benign	Het
Pde6b	A	T	5: 108,551,298 (GRCm39)	N194I	probably damaging	Het
Polg	TCTGGATGA	TCTGGATGACTGGATGA	7: 79,114,779 (GRCm39)		probably null	Het
Polg	GA	GACTGGAGCA	7: 79,114,786 (GRCm39)		probably null	Het
Ptpn9	T	C	9: 56,934,701 (GRCm39)	M155T	possibly damaging	Het
Ret	A	G	6: 118,158,975 (GRCm39)	Y146H	probably benign	Het
Sdf2l1	T	C	16: 16,949,498 (GRCm39)	H116R	probably damaging	Het
Shld2	A	G	14: 33,981,596 (GRCm39)	V514A	probably damaging	Het
Slc37a1	T	C	17: 31,552,643 (GRCm39)	I316T	probably damaging	Het
Slc4a11	A	C	2: 130,528,830 (GRCm39)	L473R	possibly damaging	Het
Smg7	A	G	1: 152,731,753 (GRCm39)	M344T	probably benign	Het
Smg9	T	C	7: 24,114,465 (GRCm39)	L268P	probably damaging	Het
Tiparp	C	T	3: 65,439,272 (GRCm39)	T196I	probably benign	Het
Trappc12	A	G	12: 28,742,491 (GRCm39)		probably null	Het
Trappc9	A	T	15: 72,565,431 (GRCm39)	N953K	probably benign	Het
Trpa1	A	G	1: 14,968,564 (GRCm39)	V428A	probably benign	Het
Utp20	T	C	10: 88,583,170 (GRCm39)	R2728G	probably damaging	Het
Zfp612	A	G	8: 110,815,372 (GRCm39)	E193G	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
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
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
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'- TAGAAGTACACGTGTTGGGGC -3'
(R):5'- CCGCTGGAAACACCTTGTTAC -3'

Sequencing Primer
(F):5'- GTTGCCTAAACACAGCTGAGTTC -3'
(R):5'- GTTACACACCTTGTCTGCGGAG -3'

Posted On

2022-04-18