Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Atraid'

561284

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

045286-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R7214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31205984-31211977 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 31209590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 85 (Q85*)

Ref Sequence

ENSEMBL: ENSMUSP00000013766 (fasta)

Gene Model

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

AlphaFold

Q6PGD0

Predicted Effect

probably null
Transcript: ENSMUST00000013766
AA Change: Q85*

SMART Domains

Protein: ENSMUSP00000013766
Gene: ENSMUSG00000013622
AA Change: Q85*

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 null
Transcript: ENSMUST00000200748
AA Change: Q68*

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: ENSMUST00000200942

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 null
Transcript: ENSMUST00000201136
AA Change: Q32*

SMART Domains

Protein: ENSMUSP00000144085
Gene: ENSMUSG00000013622
AA Change: Q32*

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

Predicted Effect

probably null
Transcript: ENSMUST00000201174
AA Change: Q32*

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 null
Transcript: ENSMUST00000201773
AA Change: Q85*

SMART Domains

Protein: ENSMUSP00000144333
Gene: ENSMUSG00000013622
AA Change: Q85*

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

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: 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

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: 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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rbl2	T	C	8: 91,810,057 (GRCm39)		probably null	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	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
R0528:Atraid	UTSW	5	31,209,796 (GRCm39)	unclassified	probably benign
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
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'- GGGCTAACTAGATTGGCTACTAC -3'
(R):5'- ACTGTTAGCGCTCTGTTTGC -3'

Sequencing Primer
(F):5'- GGCTACTACATGATTACAATGTCTGC -3'
(R):5'- CTGTTTGCAGAAGTTTTCTATTAGCC -3'

Posted On

2019-06-26