Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Abce1'

517258

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

044616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80410091-80438369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80416952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 353 (M353K)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

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

AlphaFold

P61222

Predicted Effect

probably damaging
Transcript: ENSMUST00000080536
AA Change: M353K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: M353K

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: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Eefsec	C	G	6: 88,274,770 (GRCm39)	W398S	probably damaging	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	probably 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
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'- TTTAAACTCGGGTGTAGCCTC -3'
(R):5'- TGTTCATTGTCGAAACACACC -3'

Sequencing Primer
(F):5'- GTGTAGCCTCGAGTCAGTTCC -3'
(R):5'- GCTGTCCTGGAAATCACTGTAGAC -3'

Posted On

2018-05-21