Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:Abce1'

565801

Institutional Source

Beutler Lab

Gene Symbol

Abce1

Ensembl Gene

ENSMUSG00000058355

Gene Name

ATP-binding cassette, sub-family E (OABP), member 1

Synonyms

Oabp, Rnaseli, RNS4l (Eye)

MMRRC Submission

045361-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79683462-79711740 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 79685256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 592 (G592*)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080536]

AlphaFold

P61222

Predicted Effect

probably null
Transcript: ENSMUST00000080536
AA Change: G592*

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: G592*

Domain	Start	End	E-Value	Type
Pfam:RLI	6	37	6.9e-18	PFAM
Pfam:Fer4	48	71	8e-10	PFAM
AAA	102	293	2.34e-8	SMART
low complexity region	343	358	N/A	INTRINSIC
AAA	371	539	2.86e-12	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the OABP subfamily. Alternatively referred to as the RNase L inhibitor, this protein functions to block the activity of ribonuclease L. Activation of ribonuclease L leads to inhibition of protein synthesis in the 2-5A/RNase L system, the central pathway for viral interferon action. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	A	G	11: 78,274,828 (GRCm38)	Q1346R	probably damaging	Het
4833439L19Rik	A	G	13: 54,552,691 (GRCm38)	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297 (GRCm38)	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047 (GRCm38)	A1207T	probably benign	Het
Acad10	A	C	5: 121,649,475 (GRCm38)	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563 (GRCm38)	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663 (GRCm38)	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796 (GRCm38)	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731 (GRCm38)	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408 (GRCm38)	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500 (GRCm38)	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708 (GRCm38)	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794 (GRCm38)	C641W		Het
Clip3	T	C	7: 30,305,812 (GRCm38)	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882 (GRCm38)	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914 (GRCm38)	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556 (GRCm38)	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584 (GRCm38)	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579 (GRCm38)	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784 (GRCm38)		probably null	Het
Fat4	A	T	3: 38,889,693 (GRCm38)	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357 (GRCm38)	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077 (GRCm38)	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526 (GRCm38)		probably null	Het
Ipo8	T	A	6: 148,824,481 (GRCm38)	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486 (GRCm38)	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257 (GRCm38)	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259 (GRCm38)	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844 (GRCm38)		probably null	Het
Nbeal1	G	C	1: 60,237,151 (GRCm38)	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050 (GRCm38)	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877 (GRCm38)	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538 (GRCm38)	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192 (GRCm38)	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139 (GRCm38)	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808 (GRCm38)	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593 (GRCm38)	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259 (GRCm38)	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394 (GRCm38)	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882 (GRCm38)	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980 (GRCm38)		probably null	Het
Pkhd1l1	A	G	15: 44,503,280 (GRCm38)	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919 (GRCm38)	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883 (GRCm38)	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645 (GRCm38)		probably null	Het
Prkdc	A	G	16: 15,717,764 (GRCm38)	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384 (GRCm38)	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531 (GRCm38)	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568 (GRCm38)	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441 (GRCm38)	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839 (GRCm38)		probably null	Het
Runx1t1	G	A	4: 13,846,935 (GRCm38)	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779 (GRCm38)		probably null	Het
Serpina16	A	C	12: 103,672,432 (GRCm38)		probably null	Het
Slc17a3	A	T	13: 23,855,848 (GRCm38)	M290L		Het
Slc6a4	A	T	11: 77,010,696 (GRCm38)	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313 (GRCm38)	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878 (GRCm38)	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515 (GRCm38)	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452 (GRCm38)	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014 (GRCm38)	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929 (GRCm38)	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605 (GRCm38)		probably null	Het
Tmem51	T	A	4: 142,031,783 (GRCm38)	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662 (GRCm38)	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718 (GRCm38)	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955 (GRCm38)	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418 (GRCm38)	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311 (GRCm38)	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712 (GRCm38)	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738 (GRCm38)	A724G	unknown	Het

Other mutations in Abce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Abce1	APN	8	79,693,447 (GRCm38)	missense	probably damaging	1.00
IGL01967:Abce1	APN	8	79,685,991 (GRCm38)	missense	probably damaging	1.00
IGL02715:Abce1	APN	8	79,690,361 (GRCm38)	missense	probably damaging	0.97
IGL02878:Abce1	APN	8	79,703,007 (GRCm38)	missense	possibly damaging	0.94
IGL03080:Abce1	APN	8	79,703,001 (GRCm38)	splice site	probably null
Crushed	UTSW	8	79,685,256 (GRCm38)	nonsense	probably null
R0256:Abce1	UTSW	8	79,685,943 (GRCm38)	critical splice donor site	probably null
R1458:Abce1	UTSW	8	79,707,235 (GRCm38)	missense	possibly damaging	0.60
R1871:Abce1	UTSW	8	79,685,268 (GRCm38)	nonsense	probably null
R1872:Abce1	UTSW	8	79,690,251 (GRCm38)	missense	possibly damaging	0.82
R1879:Abce1	UTSW	8	79,687,456 (GRCm38)	missense	probably benign
R1957:Abce1	UTSW	8	79,685,949 (GRCm38)	missense	probably benign	0.00
R4642:Abce1	UTSW	8	79,689,353 (GRCm38)	missense	probably damaging	1.00
R4666:Abce1	UTSW	8	79,687,486 (GRCm38)	missense	probably damaging	1.00
R5579:Abce1	UTSW	8	79,700,586 (GRCm38)	missense	possibly damaging	0.94
R5583:Abce1	UTSW	8	79,690,293 (GRCm38)	missense	probably benign
R5666:Abce1	UTSW	8	79,690,277 (GRCm38)	missense	probably benign	0.01
R6484:Abce1	UTSW	8	79,690,323 (GRCm38)	missense	probably damaging	0.98
R6671:Abce1	UTSW	8	79,689,177 (GRCm38)	missense	probably benign	0.00
R7084:Abce1	UTSW	8	79,699,414 (GRCm38)	missense	probably benign	0.13
R7098:Abce1	UTSW	8	79,686,049 (GRCm38)	missense	probably benign
R7246:Abce1	UTSW	8	79,703,069 (GRCm38)	missense	probably damaging	1.00
R7604:Abce1	UTSW	8	79,699,374 (GRCm38)	missense	probably benign	0.05
R7729:Abce1	UTSW	8	79,687,908 (GRCm38)	missense	probably damaging	1.00
R8047:Abce1	UTSW	8	79,701,188 (GRCm38)	missense	possibly damaging	0.77
R8062:Abce1	UTSW	8	79,701,144 (GRCm38)	missense	possibly damaging	0.91
R8134:Abce1	UTSW	8	79,699,353 (GRCm38)	missense	probably benign	0.04
R8716:Abce1	UTSW	8	79,701,155 (GRCm38)	missense	possibly damaging	0.94
R8934:Abce1	UTSW	8	79,703,032 (GRCm38)	missense	probably damaging	1.00
Z1177:Abce1	UTSW	8	79,687,469 (GRCm38)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CCATGTTCATGTAGTATGCACAGAG -3'
(R):5'- CTGTTGCCTTTTGTACCAGGAG -3'

Sequencing Primer
(F):5'- CATGTAGTATGCACAGAGGTTTAATC -3'
(R):5'- TTTGTACCAGGAGCTTAAAAATGGG -3'

Posted On

2019-06-26