Mutagenetix > Incidental Mutation

Incidental Mutation 'R1769:Abcb10'

194699

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

039800-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124679198-124709861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124688791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 495 (G495D)

Ref Sequence

ENSEMBL: ENSMUSP00000075011 (fasta)

Gene Model

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

AlphaFold

Q9JI39

Predicted Effect

probably damaging
Transcript: ENSMUST00000075578
AA Change: G495D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: G495D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212356

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

100% (91/91)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	A	G	5: 138,644,519 (GRCm39)	I135V	probably benign	Het
Abca1	T	A	4: 53,074,325 (GRCm39)	K1119N	probably damaging	Het
Abcc9	T	C	6: 142,573,194 (GRCm39)		probably benign	Het
Akap3	A	G	6: 126,842,809 (GRCm39)	E476G	possibly damaging	Het
Aldh3b1	A	G	19: 3,968,740 (GRCm39)	F271S	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ascc3	T	C	10: 50,576,586 (GRCm39)	V847A	probably damaging	Het
Best3	A	G	10: 116,859,883 (GRCm39)	N381S	probably benign	Het
Blm	A	T	7: 80,163,118 (GRCm39)	S78T	probably benign	Het
Bmpr2	T	A	1: 59,907,520 (GRCm39)	L871Q	probably damaging	Het
Car13	T	A	3: 14,715,795 (GRCm39)	H104Q	probably benign	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Ccnb1ip1	T	C	14: 51,029,568 (GRCm39)	M165V	probably benign	Het
Cd4	A	T	6: 124,843,618 (GRCm39)	M431K	possibly damaging	Het
Cdh20	C	T	1: 109,980,606 (GRCm39)	T178I	probably damaging	Het
Ceacam3	C	T	7: 16,892,301 (GRCm39)	T348I	probably damaging	Het
Cfap54	C	T	10: 92,740,125 (GRCm39)		probably null	Het
Clcn6	A	T	4: 148,098,758 (GRCm39)		probably null	Het
Csf3	A	G	11: 98,593,246 (GRCm39)	Y121C	probably damaging	Het
Csmd3	C	T	15: 47,567,505 (GRCm39)		probably benign	Het
Cyp2c69	A	G	19: 39,864,815 (GRCm39)	I221T	probably benign	Het
Dgcr2	T	C	16: 17,675,115 (GRCm39)		probably benign	Het
Dhcr7	T	C	7: 143,401,250 (GRCm39)	F474S	probably damaging	Het
Dnah1	T	C	14: 31,032,839 (GRCm39)	I399V	probably null	Het
Efcab14	T	A	4: 115,610,188 (GRCm39)	L183Q	probably damaging	Het
Evx2	A	G	2: 74,489,501 (GRCm39)	V88A	probably benign	Het
Exph5	A	G	9: 53,285,109 (GRCm39)	N730S	probably benign	Het
Farsb	T	A	1: 78,443,620 (GRCm39)	K196I	probably benign	Het
Fbln7	C	T	2: 128,735,682 (GRCm39)		probably benign	Het
Fhdc1	A	G	3: 84,356,085 (GRCm39)	F453S	probably damaging	Het
Gast	T	A	11: 100,227,684 (GRCm39)	W89R	probably damaging	Het
Gata2	A	G	6: 88,182,237 (GRCm39)	S402G	probably benign	Het
Gin1	T	A	1: 97,720,162 (GRCm39)	S386T	probably benign	Het
Golgb1	A	G	16: 36,736,363 (GRCm39)	E1870G	probably damaging	Het
Hivep3	T	A	4: 119,954,768 (GRCm39)	V1028E	possibly damaging	Het
Ifi203	G	A	1: 173,756,326 (GRCm39)	R486*	probably null	Het
Ifi209	G	A	1: 173,468,728 (GRCm39)	S186N	probably benign	Het
Ifih1	C	T	2: 62,436,738 (GRCm39)	A562T	probably damaging	Het
Itch	T	C	2: 155,014,481 (GRCm39)	L106S	probably damaging	Het
Itga4	T	A	2: 79,146,050 (GRCm39)		probably null	Het
Kdm4c	A	G	4: 74,199,234 (GRCm39)	S141G	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klra3	T	C	6: 130,307,226 (GRCm39)		probably null	Het
Lama2	G	C	10: 27,084,403 (GRCm39)	F922L	probably benign	Het
Lama2	A	T	10: 27,084,402 (GRCm39)	S923T	probably damaging	Het
Llgl1	G	A	11: 60,597,873 (GRCm39)	V331M	probably damaging	Het
Lrrc30	T	C	17: 67,938,676 (GRCm39)	*301W	probably null	Het
Map1lc3b	C	T	8: 122,320,226 (GRCm39)		probably benign	Het
Mbd2	A	G	18: 70,749,690 (GRCm39)	I302V	probably benign	Het
Med27	A	G	2: 29,390,307 (GRCm39)	Y78C	probably damaging	Het
Mei1	C	T	15: 81,996,771 (GRCm39)		probably null	Het
Mideas	G	A	12: 84,205,124 (GRCm39)		probably benign	Het
Miga1	T	C	3: 151,993,191 (GRCm39)	E346G	probably damaging	Het
Myef2	A	G	2: 124,957,363 (GRCm39)	S131P	probably damaging	Het
Myocd	T	C	11: 65,069,527 (GRCm39)	H899R	probably benign	Het
Ncam1	A	G	9: 49,456,556 (GRCm39)		probably benign	Het
Ngf	T	A	3: 102,427,513 (GRCm39)	N87K	possibly damaging	Het
Nol10	T	A	12: 17,466,709 (GRCm39)		probably benign	Het
Nrip2	A	G	6: 128,385,231 (GRCm39)	I221V	probably benign	Het
Nup205	G	A	6: 35,182,366 (GRCm39)	G777D	probably damaging	Het
Or5ac17	A	G	16: 59,036,344 (GRCm39)	F211L	probably benign	Het
Or5b96	A	G	19: 12,867,047 (GRCm39)	V298A	probably damaging	Het
Or6c1	T	A	10: 129,518,081 (GRCm39)	T176S	probably benign	Het
Or7g35	A	T	9: 19,496,682 (GRCm39)	Q283L	probably damaging	Het
Or8d6	G	T	9: 39,854,251 (GRCm39)	D232Y	probably benign	Het
Oxt	A	T	2: 130,418,220 (GRCm39)	R31W	probably damaging	Het
Pde4dip	A	G	3: 97,603,246 (GRCm39)	S2248P	probably benign	Het
Pias1	A	G	9: 62,859,460 (GRCm39)	V16A	probably damaging	Het
Pkp2	T	C	16: 16,080,561 (GRCm39)	S616P	probably damaging	Het
Plch2	T	C	4: 155,084,540 (GRCm39)	Y379C	probably damaging	Het
Pnpt1	A	G	11: 29,104,159 (GRCm39)	N540D	probably benign	Het
Ptpn23	G	A	9: 110,220,746 (GRCm39)	H255Y	possibly damaging	Het
Rad21	T	C	15: 51,835,703 (GRCm39)	N237D	probably benign	Het
Ryr3	A	C	2: 112,582,113 (GRCm39)		probably null	Het
Sgk1	C	A	10: 21,873,007 (GRCm39)		probably benign	Het
Slc1a5	G	T	7: 16,531,464 (GRCm39)	A490S	probably damaging	Het
Slc5a8	T	C	10: 88,755,326 (GRCm39)	Y478H	probably benign	Het
Slc5a8	T	A	10: 88,755,328 (GRCm39)	Y478*	probably null	Het
Slc9a3	A	T	13: 74,311,190 (GRCm39)	M562L	probably benign	Het
Spmip4	A	G	6: 50,568,801 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,555,714 (GRCm39)	R57*	probably null	Het
Tiam1	T	C	16: 89,657,167 (GRCm39)	R690G	probably damaging	Het
Tmem150b	A	G	7: 4,727,365 (GRCm39)	S47P	probably damaging	Het
Trim39	C	T	17: 36,574,832 (GRCm39)	R190Q	probably damaging	Het
Ttc32	A	T	12: 9,085,073 (GRCm39)	I98L	possibly damaging	Het
Vps13c	A	G	9: 67,873,003 (GRCm39)	T3304A	probably benign	Het
Wdr35	A	C	12: 9,062,728 (GRCm39)	D638A	probably damaging	Het
Wwc1	G	T	11: 35,752,671 (GRCm39)	P797T	probably benign	Het
Zan	T	A	5: 137,462,780 (GRCm39)	T800S	unknown	Het
Zbbx	A	G	3: 74,990,926 (GRCm39)		probably benign	Het
Zup1	T	C	10: 33,811,172 (GRCm39)	M291V	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
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
R5947:Abcb10	UTSW	8	124,694,737 (GRCm39)	splice site	probably null
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'- AGCACATGTCAGCAGAGTTCCAG -3'
(R):5'- ACTTCAGTCAGGCAAGGGAGACAC -3'

Sequencing Primer
(F):5'- CTGACCCATTTCCAAGGGTAG -3'
(R):5'- GGCATTCTGCCCTGAGC -3'

Posted On

2014-05-23