Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Abce1'

632175

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8134 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

79683462-79711740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 79699353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 265 (P265L)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

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

AlphaFold

P61222

Predicted Effect

probably benign
Transcript: ENSMUST00000080536
AA Change: P265L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: P265L

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	Het

Other mutations in Abce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Abce1	APN	8	79693447	missense	probably damaging	1.00
IGL01967:Abce1	APN	8	79685991	missense	probably damaging	1.00
IGL02715:Abce1	APN	8	79690361	missense	probably damaging	0.97
IGL02878:Abce1	APN	8	79703007	missense	possibly damaging	0.94
IGL03080:Abce1	APN	8	79703001	splice site	probably null
Crushed	UTSW	8	79685256	nonsense	probably null
R0256:Abce1	UTSW	8	79685943	critical splice donor site	probably null
R1458:Abce1	UTSW	8	79707235	missense	possibly damaging	0.60
R1871:Abce1	UTSW	8	79685268	nonsense	probably null
R1872:Abce1	UTSW	8	79690251	missense	possibly damaging	0.82
R1879:Abce1	UTSW	8	79687456	missense	probably benign
R1957:Abce1	UTSW	8	79685949	missense	probably benign	0.00
R4642:Abce1	UTSW	8	79689353	missense	probably damaging	1.00
R4666:Abce1	UTSW	8	79687486	missense	probably damaging	1.00
R5579:Abce1	UTSW	8	79700586	missense	possibly damaging	0.94
R5583:Abce1	UTSW	8	79690293	missense	probably benign
R5666:Abce1	UTSW	8	79690277	missense	probably benign	0.01
R6484:Abce1	UTSW	8	79690323	missense	probably damaging	0.98
R6671:Abce1	UTSW	8	79689177	missense	probably benign	0.00
R7084:Abce1	UTSW	8	79699414	missense	probably benign	0.13
R7098:Abce1	UTSW	8	79686049	missense	probably benign
R7246:Abce1	UTSW	8	79703069	missense	probably damaging	1.00
R7283:Abce1	UTSW	8	79685256	nonsense	probably null
R7604:Abce1	UTSW	8	79699374	missense	probably benign	0.05
R7729:Abce1	UTSW	8	79687908	missense	probably damaging	1.00
R8047:Abce1	UTSW	8	79701188	missense	possibly damaging	0.77
R8062:Abce1	UTSW	8	79701144	missense	possibly damaging	0.91
R8716:Abce1	UTSW	8	79701155	missense	possibly damaging	0.94
R8934:Abce1	UTSW	8	79703032	missense	probably damaging	1.00
Z1177:Abce1	UTSW	8	79687469	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAACTGGAGGTAACAATTGTGAATC -3'
(R):5'- TCTTTCTTCCTTCTGAACAGAACAG -3'

Sequencing Primer
(F):5'- GGAGGTAACAATTGTGAATCTTGCAC -3'
(R):5'- GTTACCTCGATGTCAAGCA -3'

Posted On

2020-06-30