Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Abcb5'

443302

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 118896348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035515]

AlphaFold

B5X0E4

Predicted Effect

probably null
Transcript: ENSMUST00000035515

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	49	338	1.9e-74	PFAM
AAA	414	606	2.1e-19	SMART
Pfam:ABC_membrane	693	967	7.3e-59	PFAM
Blast:AAA	969	1040	2e-11	BLAST
AAA	1043	1231	8.26e-18	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,397,586 (GRCm39)	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,305,374 (GRCm39)	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Or5t17	T	A	2: 86,832,621 (GRCm39)	S103T	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,871,801 (GRCm39)	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Trav12-2	T	C	14: 53,854,122 (GRCm39)	V32A	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	probably damaging	Het

Other mutations in Abcb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Abcb5	APN	12	118,854,345 (GRCm39)	missense	probably benign	0.03
IGL00092:Abcb5	APN	12	118,892,430 (GRCm39)	missense	probably benign	0.09
IGL00503:Abcb5	APN	12	118,871,336 (GRCm39)	missense	probably benign	0.02
IGL00776:Abcb5	APN	12	118,883,589 (GRCm39)	missense	probably damaging	1.00
IGL01116:Abcb5	APN	12	118,849,911 (GRCm39)	missense	probably benign
IGL01302:Abcb5	APN	12	118,881,935 (GRCm39)	missense	probably damaging	1.00
IGL01403:Abcb5	APN	12	118,836,602 (GRCm39)	missense	probably damaging	1.00
IGL01453:Abcb5	APN	12	118,831,705 (GRCm39)	missense	probably damaging	1.00
IGL01541:Abcb5	APN	12	118,875,169 (GRCm39)	missense	probably benign	0.03
IGL01784:Abcb5	APN	12	118,854,399 (GRCm39)	missense	probably benign	0.14
IGL01967:Abcb5	APN	12	118,831,707 (GRCm39)	missense	probably damaging	1.00
IGL01987:Abcb5	APN	12	118,891,093 (GRCm39)	missense	probably damaging	1.00
IGL02104:Abcb5	APN	12	118,904,415 (GRCm39)	missense	probably damaging	1.00
IGL02161:Abcb5	APN	12	118,838,490 (GRCm39)	missense	probably benign
IGL02292:Abcb5	APN	12	118,881,932 (GRCm39)	missense	probably damaging	1.00
IGL02381:Abcb5	APN	12	118,904,413 (GRCm39)	missense	probably damaging	1.00
IGL02544:Abcb5	APN	12	118,870,003 (GRCm39)	splice site	probably benign
IGL02685:Abcb5	APN	12	118,869,682 (GRCm39)	missense	probably damaging	0.99
IGL02824:Abcb5	APN	12	118,854,420 (GRCm39)	missense	probably benign	0.05
IGL02876:Abcb5	APN	12	118,883,576 (GRCm39)	missense	probably damaging	1.00
IGL02929:Abcb5	APN	12	118,908,674 (GRCm39)	missense	probably damaging	0.99
IGL03030:Abcb5	APN	12	118,904,104 (GRCm39)	missense	possibly damaging	0.93
IGL03062:Abcb5	APN	12	118,899,822 (GRCm39)	missense	probably benign	0.43
IGL03200:Abcb5	APN	12	118,928,989 (GRCm39)	splice site	probably benign
IGL03407:Abcb5	APN	12	118,904,111 (GRCm39)	missense	probably benign	0.01
alphabet	UTSW	12	118,854,353 (GRCm39)	missense	possibly damaging	0.67
google	UTSW	12	118,831,665 (GRCm39)	missense	possibly damaging	0.93
F5770:Abcb5	UTSW	12	118,849,914 (GRCm39)	missense	probably benign	0.07
PIT4366001:Abcb5	UTSW	12	118,899,833 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Abcb5	UTSW	12	118,854,422 (GRCm39)	missense	probably damaging	1.00
R0078:Abcb5	UTSW	12	118,891,129 (GRCm39)	missense	probably benign
R0219:Abcb5	UTSW	12	118,849,885 (GRCm39)	splice site	probably benign
R0312:Abcb5	UTSW	12	118,836,572 (GRCm39)	missense	probably damaging	1.00
R0347:Abcb5	UTSW	12	118,928,986 (GRCm39)	splice site	probably benign
R0359:Abcb5	UTSW	12	118,904,067 (GRCm39)	missense	probably damaging	1.00
R0433:Abcb5	UTSW	12	118,841,545 (GRCm39)	missense	probably benign	0.03
R0582:Abcb5	UTSW	12	118,904,147 (GRCm39)	missense	probably benign	0.40
R0815:Abcb5	UTSW	12	118,865,184 (GRCm39)	splice site	probably benign
R0900:Abcb5	UTSW	12	118,904,359 (GRCm39)	missense	probably damaging	1.00
R0942:Abcb5	UTSW	12	118,869,933 (GRCm39)	missense	possibly damaging	0.94
R0988:Abcb5	UTSW	12	118,896,310 (GRCm39)	missense	probably benign	0.36
R1125:Abcb5	UTSW	12	118,875,282 (GRCm39)	missense	possibly damaging	0.87
R1437:Abcb5	UTSW	12	118,838,497 (GRCm39)	missense	probably damaging	0.99
R1469:Abcb5	UTSW	12	118,831,681 (GRCm39)	missense	possibly damaging	0.83
R1469:Abcb5	UTSW	12	118,831,681 (GRCm39)	missense	possibly damaging	0.83
R1678:Abcb5	UTSW	12	118,929,064 (GRCm39)	start gained	probably benign
R1726:Abcb5	UTSW	12	118,871,267 (GRCm39)	missense	possibly damaging	0.95
R1726:Abcb5	UTSW	12	118,838,536 (GRCm39)	splice site	probably null
R1836:Abcb5	UTSW	12	118,831,696 (GRCm39)	missense	possibly damaging	0.93
R1934:Abcb5	UTSW	12	118,871,235 (GRCm39)	splice site	probably null
R1976:Abcb5	UTSW	12	118,854,417 (GRCm39)	missense	probably benign
R2005:Abcb5	UTSW	12	118,841,562 (GRCm39)	missense	probably benign	0.15
R2068:Abcb5	UTSW	12	118,904,303 (GRCm39)	nonsense	probably null
R2181:Abcb5	UTSW	12	118,831,681 (GRCm39)	missense	possibly damaging	0.83
R2191:Abcb5	UTSW	12	118,831,691 (GRCm39)	missense	probably damaging	1.00
R3690:Abcb5	UTSW	12	118,836,668 (GRCm39)	missense	probably damaging	1.00
R3746:Abcb5	UTSW	12	118,838,355 (GRCm39)	missense	probably damaging	0.99
R3825:Abcb5	UTSW	12	118,865,087 (GRCm39)	splice site	probably null
R3919:Abcb5	UTSW	12	118,854,353 (GRCm39)	missense	possibly damaging	0.67
R4049:Abcb5	UTSW	12	118,832,404 (GRCm39)	missense	probably damaging	0.99
R4409:Abcb5	UTSW	12	118,836,657 (GRCm39)	missense	probably damaging	0.98
R4606:Abcb5	UTSW	12	118,896,345 (GRCm39)	critical splice acceptor site	probably null
R4705:Abcb5	UTSW	12	118,929,040 (GRCm39)	missense	possibly damaging	0.95
R4954:Abcb5	UTSW	12	118,875,169 (GRCm39)	missense	probably benign	0.03
R4966:Abcb5	UTSW	12	118,850,626 (GRCm39)	intron	probably benign
R5169:Abcb5	UTSW	12	118,841,552 (GRCm39)	nonsense	probably null
R5327:Abcb5	UTSW	12	118,875,278 (GRCm39)	missense	probably benign	0.01
R5333:Abcb5	UTSW	12	118,831,677 (GRCm39)	missense	probably damaging	1.00
R5366:Abcb5	UTSW	12	118,831,665 (GRCm39)	missense	possibly damaging	0.93
R5373:Abcb5	UTSW	12	118,850,912 (GRCm39)	missense	probably damaging	1.00
R5399:Abcb5	UTSW	12	118,875,234 (GRCm39)	missense	probably benign
R5416:Abcb5	UTSW	12	118,871,331 (GRCm39)	missense	probably damaging	1.00
R5447:Abcb5	UTSW	12	118,891,061 (GRCm39)	missense	probably damaging	1.00
R5474:Abcb5	UTSW	12	118,904,425 (GRCm39)	missense	probably null	1.00
R5566:Abcb5	UTSW	12	118,899,702 (GRCm39)	missense	probably damaging	0.99
R5691:Abcb5	UTSW	12	118,890,970 (GRCm39)	missense	probably damaging	0.99
R5742:Abcb5	UTSW	12	118,881,992 (GRCm39)	missense	probably damaging	0.96
R5852:Abcb5	UTSW	12	118,891,139 (GRCm39)	missense	probably damaging	0.99
R5917:Abcb5	UTSW	12	118,832,516 (GRCm39)	nonsense	probably null
R5994:Abcb5	UTSW	12	118,928,995 (GRCm39)	critical splice donor site	probably null
R6295:Abcb5	UTSW	12	118,838,379 (GRCm39)	missense	probably damaging	0.99
R6455:Abcb5	UTSW	12	118,854,284 (GRCm39)	critical splice donor site	probably null
R6609:Abcb5	UTSW	12	118,892,497 (GRCm39)	missense	probably damaging	1.00
R6753:Abcb5	UTSW	12	118,908,641 (GRCm39)	missense	possibly damaging	0.86
R6818:Abcb5	UTSW	12	118,865,089 (GRCm39)	splice site	probably null
R6870:Abcb5	UTSW	12	118,929,000 (GRCm39)	missense	possibly damaging	0.87
R6944:Abcb5	UTSW	12	118,875,265 (GRCm39)	missense	probably benign	0.06
R6957:Abcb5	UTSW	12	118,871,270 (GRCm39)	missense	probably damaging	1.00
R6984:Abcb5	UTSW	12	118,891,012 (GRCm39)	missense	possibly damaging	0.47
R7021:Abcb5	UTSW	12	118,895,660 (GRCm39)	missense	probably benign	0.00
R7061:Abcb5	UTSW	12	118,841,509 (GRCm39)	missense	probably damaging	1.00
R7175:Abcb5	UTSW	12	118,831,611 (GRCm39)	missense	probably benign	0.00
R7239:Abcb5	UTSW	12	118,892,460 (GRCm39)	missense	probably benign	0.19
R7267:Abcb5	UTSW	12	118,916,205 (GRCm39)	missense	probably damaging	1.00
R7303:Abcb5	UTSW	12	118,875,295 (GRCm39)	missense	probably damaging	0.96
R7396:Abcb5	UTSW	12	118,831,609 (GRCm39)	missense	probably damaging	1.00
R7605:Abcb5	UTSW	12	118,881,899 (GRCm39)	missense	probably damaging	1.00
R7989:Abcb5	UTSW	12	118,875,278 (GRCm39)	missense	probably benign	0.01
R8177:Abcb5	UTSW	12	118,836,525 (GRCm39)	missense	possibly damaging	0.65
R8296:Abcb5	UTSW	12	118,838,467 (GRCm39)	missense	probably benign	0.01
R8544:Abcb5	UTSW	12	118,832,461 (GRCm39)	missense	probably damaging	1.00
R8558:Abcb5	UTSW	12	118,841,566 (GRCm39)	missense	probably benign	0.07
R8790:Abcb5	UTSW	12	118,831,620 (GRCm39)	missense	possibly damaging	0.91
R9003:Abcb5	UTSW	12	118,850,013 (GRCm39)	missense	possibly damaging	0.93
R9038:Abcb5	UTSW	12	118,895,651 (GRCm39)	missense	probably benign
R9410:Abcb5	UTSW	12	118,869,703 (GRCm39)	missense	probably benign	0.00
R9497:Abcb5	UTSW	12	118,899,850 (GRCm39)	missense	probably damaging	0.96
R9666:Abcb5	UTSW	12	118,838,422 (GRCm39)	missense	probably damaging	0.98
R9682:Abcb5	UTSW	12	118,896,328 (GRCm39)	missense	probably damaging	0.99
R9756:Abcb5	UTSW	12	118,881,873 (GRCm39)	missense	probably damaging	0.98
V7580:Abcb5	UTSW	12	118,849,914 (GRCm39)	missense	probably benign	0.07
Z1176:Abcb5	UTSW	12	118,882,007 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTTCCTTCTTAGAGTAAGGAC -3'
(R):5'- TACCAGTTGGAACATCTTCTGG -3'

Sequencing Primer
(F):5'- GGACAGATATCTTTCAATGCAGTGAG -3'
(R):5'- GGAACATCTTCTGGATATATGCCC -3'

Posted On

2016-11-09