Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Abcb10'

558061

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

045263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124679198-124709861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124693350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 318 (L318Q)

Ref Sequence

ENSEMBL: ENSMUSP00000075011 (fasta)

Gene Model

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

AlphaFold

Q9JI39

Predicted Effect

SMART Domains

Protein: ENSMUSP00000075011
Gene: ENSMUSG00000031974
AA Change: L318Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc1a3	G	T	15: 8,675,386 (GRCm39)	N206K	possibly damaging	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	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
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
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'- CAATCTCATGGCCTACGGTG -3'
(R):5'- TGTCAATTCCCGTGTGACAC -3'

Sequencing Primer
(F):5'- GGTGATCCACTTACTGCTCCAAAG -3'
(R):5'- GCATGTCTGTGCACCACATGTG -3'

Posted On

2019-06-26