Mutagenetix > Incidental Mutation

Incidental Mutation 'R8716:Abce1'

669885

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

068569-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80410091-80438369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80427784 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 168 (I168N)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

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

AlphaFold

P61222

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080536
AA Change: I168N

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: I168N

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: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,243,774 (GRCm39)	Y1879C	probably benign	Het
Acan	G	A	7: 78,762,438 (GRCm39)	R2004H	probably damaging	Het
Acsm4	T	A	7: 119,307,883 (GRCm39)	L340Q	probably damaging	Het
Actmap	C	A	7: 26,896,631 (GRCm39)	P65T	probably damaging	Het
Adamts2	T	A	11: 50,664,091 (GRCm39)	N342K	probably damaging	Het
Adgrd1	A	T	5: 129,265,435 (GRCm39)	D725V	possibly damaging	Het
Ahnak	T	A	19: 8,986,438 (GRCm39)	L2574Q	probably damaging	Het
Ank2	A	T	3: 126,736,488 (GRCm39)	L3132*	probably null	Het
Ap3b2	T	G	7: 81,126,901 (GRCm39)	E283A	probably benign	Het
Asb17	A	T	3: 153,559,151 (GRCm39)	L287F	probably damaging	Het
Atr	T	G	9: 95,789,468 (GRCm39)	N1541K	probably benign	Het
Bcas3	G	A	11: 85,471,868 (GRCm39)	V711I	probably damaging	Het
Ccdc82	T	G	9: 13,252,922 (GRCm39)	Y262*	probably null	Het
Cd209d	CAT	C	8: 3,923,772 (GRCm39)		probably null	Het
Cdc23	GAGACTACCGAAGA	GAGA	18: 34,784,735 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,800,494 (GRCm39)	L1571F	probably benign	Het
Clca3b	C	T	3: 144,550,355 (GRCm39)	V197I	probably benign	Het
Cul9	T	C	17: 46,838,840 (GRCm39)	S932G	probably benign	Het
Cyp3a59	T	A	5: 146,033,411 (GRCm39)	D182E	probably damaging	Het
Ddx19a	T	C	8: 111,710,243 (GRCm39)	E119G	probably damaging	Het
Dnah1	A	G	14: 30,989,941 (GRCm39)		probably benign	Het
Dop1b	T	A	16: 93,577,673 (GRCm39)	L1761*	probably null	Het
Ehd2	A	G	7: 15,698,106 (GRCm39)	S44P	probably benign	Het
Exoc2	T	A	13: 31,095,227 (GRCm39)	H223L	probably damaging	Het
Fam217a	G	A	13: 35,108,248 (GRCm39)		probably benign	Het
Farp1	A	G	14: 121,479,855 (GRCm39)	N382S	probably benign	Het
Gbf1	T	A	19: 46,272,460 (GRCm39)	L1633Q	probably damaging	Het
Gpn1	C	T	5: 31,656,642 (GRCm39)	T115I	probably benign	Het
Gstcd	T	C	3: 132,688,950 (GRCm39)	D600G	probably damaging	Het
Ighv16-1	A	C	12: 114,032,616 (GRCm39)	M62R	probably benign	Het
Igsf3	T	G	3: 101,334,739 (GRCm39)	V272G	probably damaging	Het
Itgb2	T	C	10: 77,393,787 (GRCm39)	V409A	probably damaging	Het
Kcnh8	C	T	17: 53,284,780 (GRCm39)	P917S	probably benign	Het
Kif23	T	C	9: 61,844,477 (GRCm39)	T114A	probably damaging	Het
Krt35	A	G	11: 99,987,011 (GRCm39)	M1T	probably null	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lonp2	T	C	8: 87,442,933 (GRCm39)	I798T	probably benign	Het
Lrp2	T	A	2: 69,274,138 (GRCm39)	T3971S	probably benign	Het
LTO1	G	T	7: 144,468,930 (GRCm39)		probably benign	Het
Mcc	C	A	18: 44,582,403 (GRCm39)	V758F	possibly damaging	Het
Naip2	C	T	13: 100,280,914 (GRCm39)	V1433I	probably benign	Het
Ndfip1	T	C	18: 38,585,384 (GRCm39)	F133L	probably damaging	Het
Nlrc4	T	A	17: 74,752,985 (GRCm39)	E466V	probably damaging	Het
Nwd1	A	G	8: 73,388,908 (GRCm39)	D112G	probably damaging	Het
Opn4	G	T	14: 34,315,819 (GRCm39)	R405S	probably benign	Het
Or10q12	T	C	19: 13,746,185 (GRCm39)	S160P	probably damaging	Het
Or2i1	C	T	17: 37,508,299 (GRCm39)	V112M	possibly damaging	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or7e168	C	T	9: 19,720,165 (GRCm39)	L184F	probably damaging	Het
Pde11a	T	A	2: 75,848,238 (GRCm39)	D863V	probably damaging	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhf1	A	T	7: 37,921,322 (GRCm39)	L82Q	probably damaging	Het
Pou4f3	G	T	18: 42,528,593 (GRCm39)	D179Y	possibly damaging	Het
Ppp1r12a	G	A	10: 108,096,749 (GRCm39)	R713H	probably damaging	Het
Psg17	C	A	7: 18,555,310 (GRCm39)	G11W	probably benign	Het
Ptprh	A	T	7: 4,567,273 (GRCm39)	V533D	probably damaging	Het
Ptprn2	A	G	12: 117,219,168 (GRCm39)	D933G	possibly damaging	Het
Rab7	T	C	6: 87,989,369 (GRCm39)	S34G	probably damaging	Het
Rfx6	A	C	10: 51,557,968 (GRCm39)	H147P	probably damaging	Het
Rprd2	T	C	3: 95,684,105 (GRCm39)	Y310C	probably damaging	Het
Samd11	A	G	4: 156,333,727 (GRCm39)	F201S	probably benign	Het
Sox7	A	G	14: 64,186,037 (GRCm39)	T358A	probably benign	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tie1	G	A	4: 118,339,935 (GRCm39)	T364M	possibly damaging	Het
Ttn	C	A	2: 76,597,266 (GRCm39)	L19882F	probably damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Ubr4	T	C	4: 139,196,164 (GRCm39)	W1267R	unknown	Het
Usp42	G	A	5: 143,703,696 (GRCm39)	P456S	probably damaging	Het
Vmn1r235	T	C	17: 21,482,554 (GRCm39)	V293A	possibly damaging	Het
Vmn2r90	T	A	17: 17,924,343 (GRCm39)	H47Q	probably damaging	Het
Vps13d	T	A	4: 144,802,348 (GRCm39)	T3503S		Het
Vwa5b2	T	A	16: 20,415,026 (GRCm39)	N349K	probably benign	Het
Zeb1	A	T	18: 5,767,958 (GRCm39)	Y823F	probably damaging	Het
Zfp273	T	A	13: 67,974,053 (GRCm39)	C394S	probably damaging	Het
Zfp286	G	T	11: 62,671,817 (GRCm39)	A147D	unknown	Het
Zfp831	A	G	2: 174,547,049 (GRCm39)	T1411A	possibly damaging	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
R5666:Abce1	UTSW	8	80,416,906 (GRCm39)	missense	probably benign	0.01
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
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'- CCACTGTCCCCTGTCACAATAG -3'
(R):5'- GCTTCCAATCTTAAACTAGAAGTCCTC -3'

Sequencing Primer
(F):5'- GTCCCCTGTCACAATAGAAAATTATC -3'
(R):5'- TAGGAACTGTCCCCTTTG -3'

Posted On

2021-04-30