Mutagenetix > Incidental Mutation

Incidental Mutation 'R5947:Abcb10'

472232

Institutional Source

Beutler Lab

Gene Symbol

Abcb10

Ensembl Gene

ENSMUSG00000031974

Gene Name

ATP-binding cassette, sub-family B member 10

Synonyms

ABC-me

MMRRC Submission

044138-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5947 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124679198-124709861 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to C at 124694737 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000075011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075578] [ENSMUST00000127664]

AlphaFold

Q9JI39

Predicted Effect

probably null
Transcript: ENSMUST00000075578

SMART Domains

Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	136	407	1.7e-60	PFAM
AAA	484	675	1.68e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.1%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: This gene encodes a member of the ATP-binding cassette superfamily of transporters. ATP-binding cassette proteins transport various molecules across extra- and intra-cellular membranes. The encoded protein is localized to the mitochondrial inner membrane where it interacts with and stabilizes mitoferrin-1, and is important for heme biosynthesis. Additional evidence suggests the encoded protein is involved in oxidative stress protection and erythropoisesis. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for this allele exhibit increased response to ischemia and reperfusion. [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
Abt1	T	C	13: 23,606,225 (GRCm39)	E243G	possibly damaging	Het
Afap1l1	A	G	18: 61,876,771 (GRCm39)	S361P	probably damaging	Het
Alms1	T	C	6: 85,596,694 (GRCm39)	S507P	probably benign	Het
Atp13a3	A	G	16: 30,181,518 (GRCm39)	V34A	probably benign	Het
Atpaf2	A	T	11: 60,296,708 (GRCm39)		probably benign	Het
Bbs1	A	C	19: 4,943,022 (GRCm39)	L456R	probably benign	Het
Bri3bp	G	T	5: 125,529,217 (GRCm39)	G84*	probably null	Het
Bri3bp	G	C	5: 125,529,218 (GRCm39)		probably benign	Het
Car10	A	C	11: 93,381,439 (GRCm39)	H134P	probably damaging	Het
Cntrl	A	G	2: 35,006,691 (GRCm39)	E119G	probably damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Dppa4	T	C	16: 48,111,471 (GRCm39)	V100A	possibly damaging	Het
Elmo1	G	T	13: 20,474,553 (GRCm39)	E105*	probably null	Het
Esrp2	T	G	8: 106,859,565 (GRCm39)		probably benign	Het
Exoc3l4	A	G	12: 111,388,835 (GRCm39)	K108R	possibly damaging	Het
Exph5	G	A	9: 53,286,522 (GRCm39)	R1201H	probably benign	Het
Galnt3	A	C	2: 65,914,500 (GRCm39)		probably benign	Het
Gm14486	C	T	2: 30,548,813 (GRCm39)		noncoding transcript	Het
Gna12	T	A	5: 140,746,717 (GRCm39)	I243F	probably damaging	Het
Itga5	A	T	15: 103,265,212 (GRCm39)	W232R	probably damaging	Het
Lekr1	A	T	3: 65,680,498 (GRCm39)		noncoding transcript	Het
Lrp1	C	T	10: 127,425,423 (GRCm39)		probably null	Het
Mast4	T	C	13: 102,872,148 (GRCm39)	M2215V	probably benign	Het
Mfap5	T	C	6: 122,502,945 (GRCm39)	Y52H	probably damaging	Het
Mrps31	A	G	8: 22,904,991 (GRCm39)	K127E	possibly damaging	Het
Mto1	C	T	9: 78,368,311 (GRCm39)	T485M	probably damaging	Het
Mybbp1a	G	A	11: 72,333,257 (GRCm39)	C107Y	probably damaging	Het
Nedd4	G	A	9: 72,638,132 (GRCm39)		probably benign	Het
Nek2	A	G	1: 191,561,597 (GRCm39)	E360G	probably benign	Het
Notch1	T	A	2: 26,352,540 (GRCm39)		probably benign	Het
Nubp1	T	C	16: 10,238,050 (GRCm39)		probably benign	Het
Pcdhb1	G	A	18: 37,399,726 (GRCm39)	R559H	possibly damaging	Het
Pdcd11	G	A	19: 47,117,702 (GRCm39)	V1684I	probably benign	Het
Pggt1b	G	T	18: 46,382,007 (GRCm39)	N258K	probably benign	Het
Pou6f1	C	T	15: 100,484,001 (GRCm39)	V166M	possibly damaging	Het
Pprc1	A	G	19: 46,052,111 (GRCm39)	D546G	possibly damaging	Het
Psapl1	T	C	5: 36,361,651 (GRCm39)	V81A	probably benign	Het
Rin2	T	A	2: 145,686,863 (GRCm39)		probably benign	Het
Rpf1	A	G	3: 146,212,299 (GRCm39)	F347S	probably damaging	Het
Rrp12	A	T	19: 41,859,247 (GRCm39)		probably null	Het
Ryr1	A	T	7: 28,771,349 (GRCm39)	L2557Q	probably null	Het
Slc1a7	T	C	4: 107,867,497 (GRCm39)		probably benign	Het
Slc35e2	T	A	4: 155,696,171 (GRCm39)	M186K	possibly damaging	Het
Slc49a4	T	C	16: 35,550,676 (GRCm39)	T308A	probably benign	Het
Snx6	G	T	12: 54,817,549 (GRCm39)	S116*	probably null	Het
Sptan1	T	C	2: 29,884,379 (GRCm39)		probably null	Het
Sucla2	T	A	14: 73,830,109 (GRCm39)	M382K	probably damaging	Het
Susd5	T	C	9: 113,886,659 (GRCm39)	L16P	possibly damaging	Het
Tmem260	G	A	14: 48,724,258 (GRCm39)	A369T	possibly damaging	Het
Tmprss6	A	G	15: 78,336,722 (GRCm39)	Y393H	probably damaging	Het
Tnrc6c	A	T	11: 117,613,345 (GRCm39)	Q501L	probably damaging	Het
Trim17	A	G	11: 58,856,369 (GRCm39)	Y142C	probably damaging	Het
Trim65	T	C	11: 116,019,108 (GRCm39)	R144G	probably damaging	Het
Trpm1	A	G	7: 63,873,547 (GRCm39)	T601A	probably benign	Het
Ttn	A	T	2: 76,564,688 (GRCm39)	V28483E	probably damaging	Het
Ube2l3	T	C	16: 17,019,340 (GRCm39)		probably null	Het
Ube2l3	G	T	16: 17,019,336 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,085,318 (GRCm39)		probably benign	Het
Zfat	A	G	15: 68,051,806 (GRCm39)	S663P	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Abcb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Abcb10	APN	8	124,681,166 (GRCm39)	missense	probably benign	0.00
IGL02279:Abcb10	APN	8	124,681,100 (GRCm39)	missense	probably benign	0.17
IGL02302:Abcb10	APN	8	124,685,411 (GRCm39)	missense	possibly damaging	0.89
IGL02342:Abcb10	APN	8	124,688,773 (GRCm39)	missense	probably damaging	1.00
IGL03062:Abcb10	APN	8	124,681,054 (GRCm39)	missense	possibly damaging	0.49
IGL03409:Abcb10	APN	8	124,691,762 (GRCm39)	missense	possibly damaging	0.63
R0320:Abcb10	UTSW	8	124,689,746 (GRCm39)	missense	probably benign	0.00
R0436:Abcb10	UTSW	8	124,697,740 (GRCm39)	missense	probably benign	0.01
R1074:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1224:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1225:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1226:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1251:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1252:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1254:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1255:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1256:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1355:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1370:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1424:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1499:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R1769:Abcb10	UTSW	8	124,688,791 (GRCm39)	missense	probably damaging	1.00
R2096:Abcb10	UTSW	8	124,709,195 (GRCm39)	missense	probably benign	0.01
R2125:Abcb10	UTSW	8	124,691,831 (GRCm39)	missense	probably benign	0.29
R2274:Abcb10	UTSW	8	124,709,491 (GRCm39)	missense	probably benign	0.23
R4801:Abcb10	UTSW	8	124,693,266 (GRCm39)	missense	probably benign	0.12
R4802:Abcb10	UTSW	8	124,693,266 (GRCm39)	missense	probably benign	0.12
R4850:Abcb10	UTSW	8	124,709,429 (GRCm39)	missense	probably benign	0.01
R5320:Abcb10	UTSW	8	124,697,763 (GRCm39)	missense	probably benign	0.11
R6006:Abcb10	UTSW	8	124,694,804 (GRCm39)	missense	probably benign	0.00
R6328:Abcb10	UTSW	8	124,688,756 (GRCm39)	missense	probably damaging	1.00
R7168:Abcb10	UTSW	8	124,693,350 (GRCm39)	missense
R8130:Abcb10	UTSW	8	124,691,757 (GRCm39)	missense
R8131:Abcb10	UTSW	8	124,691,757 (GRCm39)	missense
R8132:Abcb10	UTSW	8	124,691,757 (GRCm39)	missense
R8431:Abcb10	UTSW	8	124,694,873 (GRCm39)	missense
R9111:Abcb10	UTSW	8	124,696,646 (GRCm39)	missense
R9258:Abcb10	UTSW	8	124,709,347 (GRCm39)	missense	probably benign
R9423:Abcb10	UTSW	8	124,688,819 (GRCm39)	missense
V7581:Abcb10	UTSW	8	124,696,500 (GRCm39)	intron	probably benign
Z1176:Abcb10	UTSW	8	124,709,402 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTAAGTGGCTAGCTAGGTGTAGAC -3'
(R):5'- CTGTCTCTTGGCTGCACATG -3'

Sequencing Primer
(F):5'- CTAGCTAGGTGTAGACTGTCTCAC -3'
(R):5'- AGGATGCCTTGCCACTTCAAG -3'

Posted On

2017-03-31