Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Abcb5'

573847

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118831609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1248 (Y1248H)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035515
AA Change: Y1248H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: Y1248H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Camk2b	A	C	11: 5,928,432 (GRCm39)	S436A	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	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
R5685:Abcb5	UTSW	12	118,896,348 (GRCm39)	splice site	probably null
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
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'- AAGAGATACAGGTACTTTCTCCAG -3'
(R):5'- TTCTTCCAGGTGGTCCAACAG -3'

Sequencing Primer
(F):5'- CATCATGTGGATGCTGAGAATC -3'
(R):5'- AGGCTCTTGATAAAGCCCG -3'

Posted On

2019-09-13