Mutagenetix > Incidental Mutation

Incidental Mutation 'R0528:Atraid'

48983

Institutional Source

Beutler Lab

Gene Symbol

Atraid

Ensembl Gene

ENSMUSG00000013622

Gene Name

all-trans retinoic acid induced differentiation factor

Synonyms

0610007C21Rik, HSPC013, p18

MMRRC Submission

038720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0528 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31205984-31211977 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 31209796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144009 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013766] [ENSMUST00000013773] [ENSMUST00000080431] [ENSMUST00000114668] [ENSMUST00000200816] [ENSMUST00000201174] [ENSMUST00000200942] [ENSMUST00000201136] [ENSMUST00000201773] [ENSMUST00000200953] [ENSMUST00000202795] [ENSMUST00000201838] [ENSMUST00000202556] [ENSMUST00000201182] [ENSMUST00000202520]

AlphaFold

Q6PGD0

Predicted Effect

probably benign
Transcript: ENSMUST00000013766

SMART Domains

Protein: ENSMUSP00000013766
Gene: ENSMUSG00000013622

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
EGF	149	187	2.03e1	SMART
transmembrane domain	192	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000013773

SMART Domains

Protein: ENSMUSP00000013773
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.7e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.2e-15	PFAM
Pfam:CPSase_L_D2	514	718	1.8e-85	PFAM
Pfam:ATP-grasp	522	690	1.5e-9	PFAM
Pfam:Dala_Dala_lig_C	527	687	2.2e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	1.8e-23	PFAM
Pfam:CPSase_L_D2	1047	1250	3.1e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	2.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	2.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	7.4e-12	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1924	2065	1.9e-44	PFAM
Pfam:OTCace	2071	2221	7.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080431

SMART Domains

Protein: ENSMUSP00000079291
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114668

SMART Domains

Protein: ENSMUSP00000110316
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200800

Predicted Effect

probably benign
Transcript: ENSMUST00000200816

SMART Domains

Protein: ENSMUSP00000144665
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201174

Predicted Effect

probably benign
Transcript: ENSMUST00000200942

Predicted Effect

probably benign
Transcript: ENSMUST00000201136

SMART Domains

Protein: ENSMUSP00000144085
Gene: ENSMUSG00000013622

Domain	Start	End	E-Value	Type
EGF	96	134	2.03e1	SMART
transmembrane domain	138	160	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201887

Predicted Effect

probably benign
Transcript: ENSMUST00000201773

SMART Domains

Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200953

SMART Domains

Protein: ENSMUSP00000144307
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.5e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:CPSase_L_D2	514	616	1.5e-34	PFAM
Pfam:Dala_Dala_lig_C	527	625	2.4e-7	PFAM
Pfam:CPSase_L_D2	614	655	4.9e-15	PFAM
CPSase_L_D3	735	858	9.7e-59	SMART
Pfam:ATP-grasp_4	981	1160	1.7e-23	PFAM
Pfam:CPSase_L_D2	984	1187	3e-28	PFAM
Pfam:Dala_Dala_lig_C	991	1179	2.3e-7	PFAM
Pfam:ATP-grasp	992	1159	2.1e-12	PFAM
MGS	1264	1365	1.35e-7	SMART
Pfam:Amidohydro_1	1399	1667	7.1e-12	PFAM
low complexity region	1757	1776	N/A	INTRINSIC
low complexity region	1801	1817	N/A	INTRINSIC
Pfam:OTCace_N	1861	2002	1.8e-44	PFAM
Pfam:OTCace	2008	2158	7.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202795

SMART Domains

Protein: ENSMUSP00000144009
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	1.9e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	5.9e-16	PFAM
Pfam:CPSase_L_D2	514	718	1.2e-85	PFAM
Pfam:ATP-grasp	522	690	7.3e-10	PFAM
Pfam:Dala_Dala_lig_C	527	687	1.3e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	8.9e-24	PFAM
Pfam:CPSase_L_D2	1047	1250	2.1e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	1.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	1.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	2.5e-11	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1970	2004	4.6e-11	PFAM
Pfam:OTCace	2010	2160	9.9e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201838

SMART Domains

Protein: ENSMUSP00000144127
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	6.3e-48	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.9e-16	PFAM
Pfam:CPSase_L_D2	514	718	3.7e-86	PFAM
Pfam:ATP-grasp	522	690	2.5e-10	PFAM
Pfam:Dala_Dala_lig_C	526	687	4.2e-11	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
SCOP:d1a9xa3	935	964	1e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202556

SMART Domains

Protein: ENSMUSP00000143993
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201182

SMART Domains

Protein: ENSMUSP00000144684
Gene: ENSMUSG00000013629

Domain	Start	End	E-Value	Type
CPSase_sm_chain	1	139	8.81e-80	SMART
Pfam:GATase	179	356	4.5e-47	PFAM
low complexity region	397	407	N/A	INTRINSIC
Pfam:ATP-grasp_4	511	692	1.1e-15	PFAM
Pfam:CPSase_L_D2	514	718	1.7e-85	PFAM
Pfam:ATP-grasp	522	690	1.4e-9	PFAM
Pfam:Dala_Dala_lig_C	527	687	2.1e-10	PFAM
CPSase_L_D3	798	921	9.7e-59	SMART
Pfam:ATP-grasp_4	1044	1223	1.7e-23	PFAM
Pfam:CPSase_L_D2	1047	1250	3e-28	PFAM
Pfam:Dala_Dala_lig_C	1054	1242	2.3e-7	PFAM
Pfam:ATP-grasp	1055	1222	2.1e-12	PFAM
MGS	1327	1428	1.35e-7	SMART
Pfam:Amidohydro_1	1462	1730	7.1e-12	PFAM
low complexity region	1820	1839	N/A	INTRINSIC
low complexity region	1864	1880	N/A	INTRINSIC
Pfam:OTCace_N	1949	1994	1.4e-11	PFAM
Pfam:OTCace	2000	2150	7.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202520

SMART Domains

Protein: ENSMUSP00000143938
Gene: ENSMUSG00000006641

Domain	Start	End	E-Value	Type
transmembrane domain	23	45	N/A	INTRINSIC
Pfam:SSF	58	462	7.9e-41	PFAM
low complexity region	496	506	N/A	INTRINSIC
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	562	573	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

96% (65/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to be involved in apoptosis, and may also be involved in hematopoietic development and differentiation. The use of alternative splice sites and promotors result in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2009]
PHENOTYPE: Mice heterozygous or homozygous for a gene trap mutation exhibit cataracts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,838,848 (GRCm39)	W674G	probably damaging	Het
Abcc9	G	A	6: 142,638,606 (GRCm39)	H103Y	probably damaging	Het
Ano7	A	G	1: 93,323,224 (GRCm39)	N495S	probably null	Het
Aoc1l3	T	A	6: 48,964,965 (GRCm39)	D324E	probably benign	Het
Ash1l	A	G	3: 88,889,584 (GRCm39)	N488D	probably benign	Het
Astn2	A	G	4: 65,563,119 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,767,083 (GRCm39)	R866G	probably damaging	Het
Cep164	T	A	9: 45,688,234 (GRCm39)		probably benign	Het
Clec4f	G	A	6: 83,629,776 (GRCm39)	Q261*	probably null	Het
Cpne4	A	T	9: 104,563,640 (GRCm39)	N6Y	probably damaging	Het
Dhx38	G	T	8: 110,289,293 (GRCm39)	Q36K	probably benign	Het
Dna2	C	A	10: 62,793,910 (GRCm39)	Q341K	probably benign	Het
Dynap	A	G	18: 70,375,165 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,973,809 (GRCm39)	V408A	probably benign	Het
Foxi3	T	A	6: 70,934,122 (GRCm39)	I203N	probably damaging	Het
Gcc2	T	A	10: 58,134,511 (GRCm39)	L1495Q	probably damaging	Het
Gpr158	A	G	2: 21,830,019 (GRCm39)	D688G	probably damaging	Het
Hcfc2	C	A	10: 82,575,079 (GRCm39)	T246K	probably damaging	Het
Hdc	C	T	2: 126,458,152 (GRCm39)	E57K	probably benign	Het
Iqsec3	G	C	6: 121,389,743 (GRCm39)		probably benign	Het
Islr2	T	A	9: 58,106,645 (GRCm39)	E205V	probably damaging	Het
Klf9	T	C	19: 23,119,498 (GRCm39)	L127P	probably benign	Het
Lamc2	A	T	1: 152,999,840 (GRCm39)	L1173Q	probably damaging	Het
Lipe	G	A	7: 25,097,901 (GRCm39)	T14I	possibly damaging	Het
Lnpep	A	G	17: 17,751,394 (GRCm39)		probably benign	Het
Lrrc15	A	G	16: 30,092,566 (GRCm39)	S258P	probably damaging	Het
Macc1	A	T	12: 119,410,780 (GRCm39)	Y516F	probably benign	Het
Megf6	A	G	4: 154,343,630 (GRCm39)	T718A	probably benign	Het
Mtcl2	A	G	2: 156,862,612 (GRCm39)	L1439P	probably damaging	Het
Myh1	A	G	11: 67,111,445 (GRCm39)	D1628G	probably damaging	Het
Naca	C	T	10: 127,879,162 (GRCm39)	T1398I	probably benign	Het
Or1f12	A	G	13: 21,721,416 (GRCm39)	F238S	possibly damaging	Het
Or2a54	A	T	6: 43,093,150 (GRCm39)	H158L	possibly damaging	Het
Padi4	A	G	4: 140,496,740 (GRCm39)	V52A	possibly damaging	Het
Paqr5	G	A	9: 61,863,527 (GRCm39)	T251I	probably damaging	Het
Pcm1	A	G	8: 41,768,967 (GRCm39)	D1611G	probably damaging	Het
Prss12	G	A	3: 123,276,445 (GRCm39)	R358K	probably benign	Het
Racgap1	A	T	15: 99,526,587 (GRCm39)	H325Q	probably damaging	Het
Rbm12b1	A	G	4: 12,145,657 (GRCm39)	H543R	probably benign	Het
Rc3h1	A	T	1: 160,795,228 (GRCm39)	N1076I	probably damaging	Het
Rp1	A	G	1: 4,415,088 (GRCm39)	L2008P	possibly damaging	Het
Rsph3a	A	G	17: 8,164,919 (GRCm39)	H93R	possibly damaging	Het
Sbf1	C	T	15: 89,172,915 (GRCm39)	R1840H	probably damaging	Het
Skic8	T	A	9: 54,630,219 (GRCm39)		probably benign	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbc1d9	T	C	8: 83,937,085 (GRCm39)	S56P	probably damaging	Het
Tiam2	A	T	17: 3,561,346 (GRCm39)	M1304L	probably damaging	Het
Tmprss11b	G	T	5: 86,819,753 (GRCm39)	R9S	probably damaging	Het
Tnfrsf21	T	A	17: 43,348,505 (GRCm39)	I39N	probably benign	Het
Tnrc6b	T	C	15: 80,763,604 (GRCm39)	S369P	probably benign	Het
Tpra1	T	C	6: 88,887,372 (GRCm39)	V217A	probably benign	Het
Uckl1	G	C	2: 181,212,283 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,566,736 (GRCm39)	Q10L	probably benign	Het
Vmn2r76	A	G	7: 85,879,506 (GRCm39)	S265P	possibly damaging	Het
Vwa5b1	A	T	4: 138,321,662 (GRCm39)	L377Q	probably damaging	Het
Wrap73	A	G	4: 154,229,776 (GRCm39)	D49G	probably damaging	Het
Zfp764	T	A	7: 127,004,051 (GRCm39)	Q360L	possibly damaging	Het
Zfp846	G	A	9: 20,499,224 (GRCm39)		probably benign	Het
Zranb2	T	C	3: 157,240,096 (GRCm39)	I14T	probably benign	Het

Other mutations in Atraid

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02689:Atraid	APN	5	31,209,826 (GRCm39)	missense	probably damaging	1.00
IGL02794:Atraid	APN	5	31,210,214 (GRCm39)	missense	probably damaging	1.00
R0682:Atraid	UTSW	5	31,209,612 (GRCm39)	missense	probably damaging	1.00
R4085:Atraid	UTSW	5	31,209,650 (GRCm39)	unclassified	probably benign
R5213:Atraid	UTSW	5	31,209,552 (GRCm39)	missense	probably damaging	1.00
R6200:Atraid	UTSW	5	31,210,210 (GRCm39)	missense	probably damaging	1.00
R7214:Atraid	UTSW	5	31,209,590 (GRCm39)	nonsense	probably null
R8121:Atraid	UTSW	5	31,211,642 (GRCm39)	splice site	probably null
R8756:Atraid	UTSW	5	31,211,385 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCAGGGCTAACTAGATTGGCTAC -3'
(R):5'- TGAACTTACTCAGTCACGCGCAC -3'

Sequencing Primer
(F):5'- TTCAGAACTGTTCCCTGAAGG -3'
(R):5'- ACACGCACACCCCACAC -3'

Posted On

2013-06-12