Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Abcb5'

660879

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

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

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118841566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 960 (T960A)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably benign
Transcript: ENSMUST00000035515
AA Change: T960A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: T960A

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: 99.5%
20x: 98.5%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epas1	A	C	17: 87,116,896 (GRCm39)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,229,580 (GRCm39)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Sec23b	C	G	2: 144,428,308 (GRCm39)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,427,903 (GRCm39)	S20G	unknown	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr33	T	A	18: 31,962,947 (GRCm39)	M98K	probably benign	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	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
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
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
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'- TTCTGGCACCTGATCTGAGC -3'
(R):5'- CTGGCAGGAATGTTTGATCAGTATC -3'

Sequencing Primer
(F):5'- GGCACCTGATCTGAGCAGAATATTC -3'
(R):5'- TGATCAGTATCAAAAGAGGCGTTTG -3'

Posted On

2021-03-08