Mutagenetix > Incidental Mutation

Incidental Mutation 'R5333:Abcb5'

423366

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 5

Synonyms

9230106F14Rik

MMRRC Submission

042915-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R5333 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118867824-118966421 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118867942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1225 (V1225D)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035515
AA Change: V1225D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: V1225D

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,194,337 (GRCm38)	Y61N	possibly damaging	Het
4930505A04Rik	C	T	11: 30,426,349 (GRCm38)	V173M	probably damaging	Het
Abca14	T	A	7: 120,289,546 (GRCm38)	Y1238*	probably null	Het
Arhgef15	A	G	11: 68,947,196 (GRCm38)		probably benign	Het
As3mt	A	G	19: 46,708,196 (GRCm38)	R58G	probably null	Het
Asap1	T	G	15: 64,127,414 (GRCm38)	N525T	possibly damaging	Het
Bhmt2	A	G	13: 93,671,430 (GRCm38)	V50A	probably benign	Het
Bpnt2	A	C	4: 4,767,963 (GRCm38)	V271G	possibly damaging	Het
Ccdc180	A	T	4: 45,890,935 (GRCm38)	I36F	possibly damaging	Het
Cd209c	A	G	8: 3,944,976 (GRCm38)	S63P	probably damaging	Het
Cdc37	T	C	9: 21,143,161 (GRCm38)	E56G	possibly damaging	Het
Cdkal1	T	C	13: 29,326,152 (GRCm38)	Y541C	probably benign	Het
Cenph	G	T	13: 100,761,772 (GRCm38)	H208N	probably benign	Het
Cfap65	A	T	1: 74,903,175 (GRCm38)	L1740Q	probably benign	Het
Cfap74	A	G	4: 155,436,740 (GRCm38)	D623G	probably damaging	Het
Ckap4	C	A	10: 84,527,610 (GRCm38)	V530L	probably damaging	Het
Cldn13	A	T	5: 134,915,015 (GRCm38)	N105K	probably benign	Het
Ddn	T	C	15: 98,805,356 (GRCm38)	D685G	possibly damaging	Het
Fdxr	T	C	11: 115,272,258 (GRCm38)	I70V	probably benign	Het
Fn1	A	T	1: 71,624,180 (GRCm38)	Y1050N	probably damaging	Het
Iqcf3	A	G	9: 106,553,661 (GRCm38)	I96T	possibly damaging	Het
Itgax	A	G	7: 128,142,283 (GRCm38)	Y822C	probably damaging	Het
Katnb1	A	T	8: 95,095,606 (GRCm38)	I286L	possibly damaging	Het
Lrp2	A	C	2: 69,525,228 (GRCm38)	I424R	probably benign	Het
Lrpprc	C	A	17: 84,790,393 (GRCm38)	A41S	probably benign	Het
Mast3	A	G	8: 70,783,501 (GRCm38)	L761P	probably benign	Het
Mmp1b	T	C	9: 7,384,897 (GRCm38)	I251V	possibly damaging	Het
Mpp4	C	A	1: 59,157,441 (GRCm38)	R44L	probably benign	Het
Nalf1	T	A	8: 9,770,762 (GRCm38)	Q86L	possibly damaging	Het
Nkain3	T	A	4: 20,484,889 (GRCm38)	M63L	probably benign	Het
Nup88	A	C	11: 70,945,016 (GRCm38)		probably benign	Het
Obscn	A	T	11: 59,062,692 (GRCm38)	C3837S	probably damaging	Het
Ogdh	T	G	11: 6,352,126 (GRCm38)	L850V	probably damaging	Het
Or4f17-ps1	A	G	2: 111,527,703 (GRCm38)	I148V	probably benign	Het
Or5w11	A	G	2: 87,629,114 (GRCm38)	Y217C	probably damaging	Het
Panx2	T	C	15: 89,068,539 (GRCm38)	I411T	possibly damaging	Het
Papss1	T	A	3: 131,643,044 (GRCm38)	M585K	probably damaging	Het
Pcbp2	T	G	15: 102,486,021 (GRCm38)	L180R	possibly damaging	Het
Pcdha7	A	T	18: 36,974,566 (GRCm38)	T215S	probably benign	Het
Pcdhga4	C	T	18: 37,685,424 (GRCm38)	R9C	probably benign	Het
Plin4	A	G	17: 56,104,970 (GRCm38)	V687A	probably benign	Het
Psma6	A	G	12: 55,407,428 (GRCm38)		probably benign	Het
Rcn1	A	T	2: 105,389,126 (GRCm38)	S241T	probably benign	Het
Scgb2b18	A	T	7: 33,173,275 (GRCm38)	L35H	probably damaging	Het
Slc11a1	A	C	1: 74,384,145 (GRCm38)	D385A	probably damaging	Het
Stk31	T	A	6: 49,469,152 (GRCm38)	C930S	probably benign	Het
Syt10	T	A	15: 89,841,729 (GRCm38)	Q14L	probably benign	Het
Tnxb	T	G	17: 34,690,231 (GRCm38)	W1578G	probably damaging	Het
Triml1	C	T	8: 43,130,290 (GRCm38)	A425T	possibly damaging	Het
Vil1	G	A	1: 74,432,390 (GRCm38)	V777I	probably benign	Het
Vmn1r175	T	C	7: 23,808,579 (GRCm38)	I208V	possibly damaging	Het

Other mutations in Abcb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Abcb5	APN	12	118,890,610 (GRCm38)	missense	probably benign	0.03
IGL00092:Abcb5	APN	12	118,928,695 (GRCm38)	missense	probably benign	0.09
IGL00503:Abcb5	APN	12	118,907,601 (GRCm38)	missense	probably benign	0.02
IGL00776:Abcb5	APN	12	118,919,854 (GRCm38)	missense	probably damaging	1.00
IGL01116:Abcb5	APN	12	118,886,176 (GRCm38)	missense	probably benign
IGL01302:Abcb5	APN	12	118,918,200 (GRCm38)	missense	probably damaging	1.00
IGL01403:Abcb5	APN	12	118,872,867 (GRCm38)	missense	probably damaging	1.00
IGL01453:Abcb5	APN	12	118,867,970 (GRCm38)	missense	probably damaging	1.00
IGL01541:Abcb5	APN	12	118,911,434 (GRCm38)	missense	probably benign	0.03
IGL01784:Abcb5	APN	12	118,890,664 (GRCm38)	missense	probably benign	0.14
IGL01967:Abcb5	APN	12	118,867,972 (GRCm38)	missense	probably damaging	1.00
IGL01987:Abcb5	APN	12	118,927,358 (GRCm38)	missense	probably damaging	1.00
IGL02104:Abcb5	APN	12	118,940,680 (GRCm38)	missense	probably damaging	1.00
IGL02161:Abcb5	APN	12	118,874,755 (GRCm38)	missense	probably benign
IGL02292:Abcb5	APN	12	118,918,197 (GRCm38)	missense	probably damaging	1.00
IGL02381:Abcb5	APN	12	118,940,678 (GRCm38)	missense	probably damaging	1.00
IGL02544:Abcb5	APN	12	118,906,268 (GRCm38)	splice site	probably benign
IGL02685:Abcb5	APN	12	118,905,947 (GRCm38)	missense	probably damaging	0.99
IGL02824:Abcb5	APN	12	118,890,685 (GRCm38)	missense	probably benign	0.05
IGL02876:Abcb5	APN	12	118,919,841 (GRCm38)	missense	probably damaging	1.00
IGL02929:Abcb5	APN	12	118,944,939 (GRCm38)	missense	probably damaging	0.99
IGL03030:Abcb5	APN	12	118,940,369 (GRCm38)	missense	possibly damaging	0.93
IGL03062:Abcb5	APN	12	118,936,087 (GRCm38)	missense	probably benign	0.43
IGL03200:Abcb5	APN	12	118,965,254 (GRCm38)	splice site	probably benign
IGL03407:Abcb5	APN	12	118,940,376 (GRCm38)	missense	probably benign	0.01
alphabet	UTSW	12	118,890,618 (GRCm38)	missense	possibly damaging	0.67
google	UTSW	12	118,867,930 (GRCm38)	missense	possibly damaging	0.93
F5770:Abcb5	UTSW	12	118,886,179 (GRCm38)	missense	probably benign	0.07
PIT4366001:Abcb5	UTSW	12	118,936,098 (GRCm38)	missense	probably damaging	1.00
PIT4434001:Abcb5	UTSW	12	118,890,687 (GRCm38)	missense	probably damaging	1.00
R0078:Abcb5	UTSW	12	118,927,394 (GRCm38)	missense	probably benign
R0219:Abcb5	UTSW	12	118,886,150 (GRCm38)	splice site	probably benign
R0312:Abcb5	UTSW	12	118,872,837 (GRCm38)	missense	probably damaging	1.00
R0347:Abcb5	UTSW	12	118,965,251 (GRCm38)	splice site	probably benign
R0359:Abcb5	UTSW	12	118,940,332 (GRCm38)	missense	probably damaging	1.00
R0433:Abcb5	UTSW	12	118,877,810 (GRCm38)	missense	probably benign	0.03
R0582:Abcb5	UTSW	12	118,940,412 (GRCm38)	missense	probably benign	0.40
R0815:Abcb5	UTSW	12	118,901,449 (GRCm38)	splice site	probably benign
R0900:Abcb5	UTSW	12	118,940,624 (GRCm38)	missense	probably damaging	1.00
R0942:Abcb5	UTSW	12	118,906,198 (GRCm38)	missense	possibly damaging	0.94
R0988:Abcb5	UTSW	12	118,932,575 (GRCm38)	missense	probably benign	0.36
R1125:Abcb5	UTSW	12	118,911,547 (GRCm38)	missense	possibly damaging	0.87
R1437:Abcb5	UTSW	12	118,874,762 (GRCm38)	missense	probably damaging	0.99
R1469:Abcb5	UTSW	12	118,867,946 (GRCm38)	missense	possibly damaging	0.83
R1469:Abcb5	UTSW	12	118,867,946 (GRCm38)	missense	possibly damaging	0.83
R1678:Abcb5	UTSW	12	118,965,329 (GRCm38)	start gained	probably benign
R1726:Abcb5	UTSW	12	118,907,532 (GRCm38)	missense	possibly damaging	0.95
R1726:Abcb5	UTSW	12	118,874,801 (GRCm38)	splice site	probably null
R1836:Abcb5	UTSW	12	118,867,961 (GRCm38)	missense	possibly damaging	0.93
R1934:Abcb5	UTSW	12	118,907,500 (GRCm38)	splice site	probably null
R1976:Abcb5	UTSW	12	118,890,682 (GRCm38)	missense	probably benign
R2005:Abcb5	UTSW	12	118,877,827 (GRCm38)	missense	probably benign	0.15
R2068:Abcb5	UTSW	12	118,940,568 (GRCm38)	nonsense	probably null
R2181:Abcb5	UTSW	12	118,867,946 (GRCm38)	missense	possibly damaging	0.83
R2191:Abcb5	UTSW	12	118,867,956 (GRCm38)	missense	probably damaging	1.00
R3690:Abcb5	UTSW	12	118,872,933 (GRCm38)	missense	probably damaging	1.00
R3746:Abcb5	UTSW	12	118,874,620 (GRCm38)	missense	probably damaging	0.99
R3825:Abcb5	UTSW	12	118,901,352 (GRCm38)	splice site	probably null
R3919:Abcb5	UTSW	12	118,890,618 (GRCm38)	missense	possibly damaging	0.67
R4049:Abcb5	UTSW	12	118,868,669 (GRCm38)	missense	probably damaging	0.99
R4409:Abcb5	UTSW	12	118,872,922 (GRCm38)	missense	probably damaging	0.98
R4606:Abcb5	UTSW	12	118,932,610 (GRCm38)	critical splice acceptor site	probably null
R4705:Abcb5	UTSW	12	118,965,305 (GRCm38)	missense	possibly damaging	0.95
R4954:Abcb5	UTSW	12	118,911,434 (GRCm38)	missense	probably benign	0.03
R4966:Abcb5	UTSW	12	118,886,891 (GRCm38)	intron	probably benign
R5169:Abcb5	UTSW	12	118,877,817 (GRCm38)	nonsense	probably null
R5327:Abcb5	UTSW	12	118,911,543 (GRCm38)	missense	probably benign	0.01
R5366:Abcb5	UTSW	12	118,867,930 (GRCm38)	missense	possibly damaging	0.93
R5373:Abcb5	UTSW	12	118,887,177 (GRCm38)	missense	probably damaging	1.00
R5399:Abcb5	UTSW	12	118,911,499 (GRCm38)	missense	probably benign
R5416:Abcb5	UTSW	12	118,907,596 (GRCm38)	missense	probably damaging	1.00
R5447:Abcb5	UTSW	12	118,927,326 (GRCm38)	missense	probably damaging	1.00
R5474:Abcb5	UTSW	12	118,940,690 (GRCm38)	missense	probably null	1.00
R5566:Abcb5	UTSW	12	118,935,967 (GRCm38)	missense	probably damaging	0.99
R5685:Abcb5	UTSW	12	118,932,613 (GRCm38)	splice site	probably null
R5691:Abcb5	UTSW	12	118,927,235 (GRCm38)	missense	probably damaging	0.99
R5742:Abcb5	UTSW	12	118,918,257 (GRCm38)	missense	probably damaging	0.96
R5852:Abcb5	UTSW	12	118,927,404 (GRCm38)	missense	probably damaging	0.99
R5917:Abcb5	UTSW	12	118,868,781 (GRCm38)	nonsense	probably null
R5994:Abcb5	UTSW	12	118,965,260 (GRCm38)	critical splice donor site	probably null
R6295:Abcb5	UTSW	12	118,874,644 (GRCm38)	missense	probably damaging	0.99
R6455:Abcb5	UTSW	12	118,890,549 (GRCm38)	critical splice donor site	probably null
R6609:Abcb5	UTSW	12	118,928,762 (GRCm38)	missense	probably damaging	1.00
R6753:Abcb5	UTSW	12	118,944,906 (GRCm38)	missense	possibly damaging	0.86
R6818:Abcb5	UTSW	12	118,901,354 (GRCm38)	splice site	probably null
R6870:Abcb5	UTSW	12	118,965,265 (GRCm38)	missense	possibly damaging	0.87
R6944:Abcb5	UTSW	12	118,911,530 (GRCm38)	missense	probably benign	0.06
R6957:Abcb5	UTSW	12	118,907,535 (GRCm38)	missense	probably damaging	1.00
R6984:Abcb5	UTSW	12	118,927,277 (GRCm38)	missense	possibly damaging	0.47
R7021:Abcb5	UTSW	12	118,931,925 (GRCm38)	missense	probably benign	0.00
R7061:Abcb5	UTSW	12	118,877,774 (GRCm38)	missense	probably damaging	1.00
R7175:Abcb5	UTSW	12	118,867,876 (GRCm38)	missense	probably benign	0.00
R7239:Abcb5	UTSW	12	118,928,725 (GRCm38)	missense	probably benign	0.19
R7267:Abcb5	UTSW	12	118,952,470 (GRCm38)	missense	probably damaging	1.00
R7303:Abcb5	UTSW	12	118,911,560 (GRCm38)	missense	probably damaging	0.96
R7396:Abcb5	UTSW	12	118,867,874 (GRCm38)	missense	probably damaging	1.00
R7605:Abcb5	UTSW	12	118,918,164 (GRCm38)	missense	probably damaging	1.00
R7989:Abcb5	UTSW	12	118,911,543 (GRCm38)	missense	probably benign	0.01
R8177:Abcb5	UTSW	12	118,872,790 (GRCm38)	missense	possibly damaging	0.65
R8296:Abcb5	UTSW	12	118,874,732 (GRCm38)	missense	probably benign	0.01
R8544:Abcb5	UTSW	12	118,868,726 (GRCm38)	missense	probably damaging	1.00
R8558:Abcb5	UTSW	12	118,877,831 (GRCm38)	missense	probably benign	0.07
R8790:Abcb5	UTSW	12	118,867,885 (GRCm38)	missense	possibly damaging	0.91
R9003:Abcb5	UTSW	12	118,886,278 (GRCm38)	missense	possibly damaging	0.93
R9038:Abcb5	UTSW	12	118,931,916 (GRCm38)	missense	probably benign
R9410:Abcb5	UTSW	12	118,905,968 (GRCm38)	missense	probably benign	0.00
R9497:Abcb5	UTSW	12	118,936,115 (GRCm38)	missense	probably damaging	0.96
R9666:Abcb5	UTSW	12	118,874,687 (GRCm38)	missense	probably damaging	0.98
R9682:Abcb5	UTSW	12	118,932,593 (GRCm38)	missense	probably damaging	0.99
R9756:Abcb5	UTSW	12	118,918,138 (GRCm38)	missense	probably damaging	0.98
V7580:Abcb5	UTSW	12	118,886,179 (GRCm38)	missense	probably benign	0.07
Z1176:Abcb5	UTSW	12	118,918,272 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGACCAAGTAATTACTATGGACTC -3'
(R):5'- TCCCCATTTCTATCTGGCAGAG -3'

Sequencing Primer
(F):5'- TGGACTCTTCATTAGACCAAGATCC -3'
(R):5'- CTTGATAAAGCCCGGAGA -3'

Posted On

2016-08-04