Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Abce1'

91425

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abce1

Ensembl Gene

ENSMUSG00000058355

Gene Name

ATP-binding cassette, sub-family E member 1

Synonyms

RNS4l (Eye), Rnaseli, Oabp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

80410091-80438369 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80420076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 300 (T300M)

Ref Sequence

ENSEMBL: ENSMUSP00000079379 (fasta)

Gene Model

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

AlphaFold

P61222

Predicted Effect

probably damaging
Transcript: ENSMUST00000080536
AA Change: T300M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079379
Gene: ENSMUSG00000058355
AA Change: T300M

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tle3	A	G	9: 61,317,307 (GRCm39)	T381A	probably benign	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	Het

Other mutations in Abce1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09