Mutagenetix > Incidental Mutation

Incidental Mutation 'R5666:Abce1'

444431

Institutional Source

Beutler Lab

Gene Symbol

Abce1

Ensembl Gene

ENSMUSG00000058355

Gene Name

ATP-binding cassette, sub-family E member 1

Synonyms

RNS4l (Eye), Rnaseli, Oabp

MMRRC Submission

043309-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80410091-80438369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80416906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 368 (E368D)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

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

AlphaFold

P61222

Predicted Effect

probably benign
Transcript: ENSMUST00000080536
AA Change: E368D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: E368D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209354

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211509

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	T	C	5: 100,127,068 (GRCm39)		probably benign	Het
Becn2	C	T	1: 175,749,179 (GRCm39)	T415M	probably damaging	Het
Bmper	T	A	9: 23,384,759 (GRCm39)	M588K	probably damaging	Het
Bop1	T	C	15: 76,338,433 (GRCm39)	E503G	probably benign	Het
Btla	A	T	16: 45,070,782 (GRCm39)	D247V	probably damaging	Het
Cap2	T	A	13: 46,684,559 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,091,465 (GRCm39)	I1592K	probably benign	Het
Chd3	T	C	11: 69,244,177 (GRCm39)	E1202G	possibly damaging	Het
Cmya5	T	C	13: 93,182,457 (GRCm39)	I3568V	possibly damaging	Het
Col4a4	A	G	1: 82,463,300 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,656,625 (GRCm39)	E546K	probably benign	Het
Cyp2j5	C	T	4: 96,546,930 (GRCm39)	V195I	probably benign	Het
Ddb2	C	T	2: 91,042,926 (GRCm39)	V353M	probably damaging	Het
Dscam	G	A	16: 96,519,364 (GRCm39)	T791I	probably benign	Het
Dtd2	T	A	12: 52,046,643 (GRCm39)	L65F	probably damaging	Het
E2f1	T	A	2: 154,411,101 (GRCm39)		probably benign	Het
Ephb3	A	G	16: 21,041,241 (GRCm39)	N732S	probably benign	Het
Fkbp10	G	T	11: 100,314,352 (GRCm39)	W384L	probably damaging	Het
Foxm1	C	T	6: 128,350,130 (GRCm39)	S339L	possibly damaging	Het
Fzd6	A	T	15: 38,894,510 (GRCm39)	R225S	probably benign	Het
Gfpt1	A	T	6: 87,030,795 (GRCm39)	I60F	possibly damaging	Het
Glce	A	G	9: 61,967,793 (GRCm39)	S453P	probably damaging	Het
Gm4787	G	A	12: 81,424,805 (GRCm39)	T451I	probably benign	Het
Hs2st1	A	T	3: 144,275,554 (GRCm39)	V22E	probably damaging	Het
Hspa9	T	C	18: 35,087,300 (GRCm39)	I2V	probably null	Het
Ikzf2	A	G	1: 69,617,059 (GRCm39)	V96A	probably benign	Het
Ilkap	T	C	1: 91,318,863 (GRCm39)	T38A	probably benign	Het
Lpin3	A	G	2: 160,739,250 (GRCm39)	T353A	probably benign	Het
Myh1	T	A	11: 67,112,178 (GRCm39)	I1744N	probably benign	Het
Nadsyn1	C	T	7: 143,361,168 (GRCm39)	G335S	probably damaging	Het
Ndc1	T	C	4: 107,246,723 (GRCm39)	V382A	possibly damaging	Het
Ndufaf4	A	T	4: 24,898,636 (GRCm39)	D64V	probably damaging	Het
Nfe2l2	T	C	2: 75,507,462 (GRCm39)	T213A	probably benign	Het
Nkain4	A	G	2: 180,584,995 (GRCm39)	L73P	probably damaging	Het
Nmt1	C	T	11: 102,949,041 (GRCm39)	R299*	probably null	Het
Or1j20	T	A	2: 36,760,401 (GRCm39)	D274E	probably benign	Het
Or2y8	A	C	11: 52,035,525 (GRCm39)	Y277*	probably null	Het
Or4b12	T	C	2: 90,096,308 (GRCm39)	I155M	probably benign	Het
Or5k1	G	A	16: 58,617,424 (GRCm39)	P262S	possibly damaging	Het
Padi2	G	T	4: 140,676,542 (GRCm39)	R560L	possibly damaging	Het
Palmd	T	C	3: 116,717,750 (GRCm39)	N249S	possibly damaging	Het
Pde1c	A	C	6: 56,103,842 (GRCm39)		probably null	Het
Pdgfra	T	C	5: 75,334,156 (GRCm39)	S410P	probably benign	Het
Phldb1	T	C	9: 44,627,078 (GRCm39)	M456V	probably damaging	Het
Pla2g2d	T	A	4: 138,507,591 (GRCm39)	C82S	probably damaging	Het
Rgs21	A	G	1: 144,412,680 (GRCm39)	V48A	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc4a2	G	T	5: 24,639,836 (GRCm39)	V506L	probably damaging	Het
Slc7a4	A	G	16: 17,393,815 (GRCm39)		probably benign	Het
Sptbn5	C	G	2: 119,916,048 (GRCm39)		probably benign	Het
Sstr2	T	A	11: 113,515,539 (GRCm39)	W153R	probably damaging	Het
Steap2	C	T	5: 5,723,681 (GRCm39)	V400I	probably benign	Het
Syne2	G	A	12: 75,997,733 (GRCm39)	G2236D	probably benign	Het
Tas2r130	T	C	6: 131,607,342 (GRCm39)	N151S	possibly damaging	Het
Tex52	T	C	6: 128,352,518 (GRCm39)	S13P	probably benign	Het
Tmprss13	A	G	9: 45,256,253 (GRCm39)	I456V	probably damaging	Het
Trim24	T	C	6: 37,942,536 (GRCm39)	F946S	probably benign	Het
Vmn2r10	A	T	5: 109,146,910 (GRCm39)	Y459*	probably null	Het
Vwa1	A	G	4: 155,858,922 (GRCm39)	L13P	probably damaging	Het
Zfp648	C	A	1: 154,079,963 (GRCm39)	Q41K	probably benign	Het

Other mutations in Abce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01583:Abce1	APN	8	80,420,076 (GRCm39)	missense	probably damaging	1.00
IGL01967:Abce1	APN	8	80,412,620 (GRCm39)	missense	probably damaging	1.00
IGL02715:Abce1	APN	8	80,416,990 (GRCm39)	missense	probably damaging	0.97
IGL02878:Abce1	APN	8	80,429,636 (GRCm39)	missense	possibly damaging	0.94
IGL03080:Abce1	APN	8	80,429,630 (GRCm39)	splice site	probably null
Crushed	UTSW	8	80,411,885 (GRCm39)	nonsense	probably null
R0256:Abce1	UTSW	8	80,412,572 (GRCm39)	critical splice donor site	probably null
R1458:Abce1	UTSW	8	80,433,864 (GRCm39)	missense	possibly damaging	0.60
R1871:Abce1	UTSW	8	80,411,897 (GRCm39)	nonsense	probably null
R1872:Abce1	UTSW	8	80,416,880 (GRCm39)	missense	possibly damaging	0.82
R1879:Abce1	UTSW	8	80,414,085 (GRCm39)	missense	probably benign
R1957:Abce1	UTSW	8	80,412,578 (GRCm39)	missense	probably benign	0.00
R4642:Abce1	UTSW	8	80,415,982 (GRCm39)	missense	probably damaging	1.00
R4666:Abce1	UTSW	8	80,414,115 (GRCm39)	missense	probably damaging	1.00
R5579:Abce1	UTSW	8	80,427,215 (GRCm39)	missense	possibly damaging	0.94
R5583:Abce1	UTSW	8	80,416,922 (GRCm39)	missense	probably benign
R6484:Abce1	UTSW	8	80,416,952 (GRCm39)	missense	probably damaging	0.98
R6671:Abce1	UTSW	8	80,415,806 (GRCm39)	missense	probably benign	0.00
R7084:Abce1	UTSW	8	80,426,043 (GRCm39)	missense	probably benign	0.13
R7098:Abce1	UTSW	8	80,412,678 (GRCm39)	missense	probably benign
R7246:Abce1	UTSW	8	80,429,698 (GRCm39)	missense	probably damaging	1.00
R7283:Abce1	UTSW	8	80,411,885 (GRCm39)	nonsense	probably null
R7604:Abce1	UTSW	8	80,426,003 (GRCm39)	missense	probably benign	0.05
R7729:Abce1	UTSW	8	80,414,537 (GRCm39)	missense	probably damaging	1.00
R8047:Abce1	UTSW	8	80,427,817 (GRCm39)	missense	possibly damaging	0.77
R8062:Abce1	UTSW	8	80,427,773 (GRCm39)	missense	possibly damaging	0.91
R8134:Abce1	UTSW	8	80,425,982 (GRCm39)	missense	probably benign	0.04
R8716:Abce1	UTSW	8	80,427,784 (GRCm39)	missense	possibly damaging	0.94
R8934:Abce1	UTSW	8	80,429,661 (GRCm39)	missense	probably damaging	1.00
Z1177:Abce1	UTSW	8	80,414,098 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGTCACCACCTGCCTATTG -3'
(R):5'- TTTTGGATGGCTATGTTCCAAC -3'

Sequencing Primer
(F):5'- TGTTTCAACAACAGTGGGGC -3'
(R):5'- TGTTCCAACAGAGAACCTGAGGTTC -3'

Posted On

2016-11-09