Mutagenetix > Incidental Mutation

Incidental Mutation 'R2191:Abcb5'

238133

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

MMRRC Submission

040193-MU

Accession Numbers

Essential gene?

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

Stock #

R2191 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 118831691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1220 (N1220K)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035515
AA Change: N1220K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: N1220K

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: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	G	6: 23,078,865 (GRCm39)	S716P	possibly damaging	Het
Acsl3	A	T	1: 78,676,857 (GRCm39)	E479D	probably damaging	Het
Actn1	A	T	12: 80,218,576 (GRCm39)	L736*	probably null	Het
Adcyap1	A	G	17: 93,507,454 (GRCm39)	S5G	possibly damaging	Het
Adgrv1	T	C	13: 81,714,409 (GRCm39)	N958S	possibly damaging	Het
Armc1	T	A	3: 19,188,225 (GRCm39)	N274Y	probably damaging	Het
Atp9b	G	A	18: 80,796,266 (GRCm39)	R926W	probably damaging	Het
Cacna1e	G	T	1: 154,319,591 (GRCm39)	Q1370K	probably damaging	Het
Cdip1	C	T	16: 4,587,927 (GRCm39)	S12N	probably benign	Het
Chrna3	T	A	9: 54,923,329 (GRCm39)	I160F	probably damaging	Het
Cnot1	A	G	8: 96,488,054 (GRCm39)	I534T	probably damaging	Het
Cr2	T	A	1: 194,845,689 (GRCm39)	I465F	possibly damaging	Het
Daw1	A	G	1: 83,170,384 (GRCm39)	D232G	probably benign	Het
Dcaf6	T	C	1: 165,250,433 (GRCm39)	T144A	probably benign	Het
Dhx30	A	T	9: 109,915,186 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,645,034 (GRCm39)	S1001P	possibly damaging	Het
Dnajb9	T	C	12: 44,253,856 (GRCm39)	T184A	probably benign	Het
Dsg1b	T	C	18: 20,542,675 (GRCm39)	*1061Q	probably null	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Edem3	T	A	1: 151,672,634 (GRCm39)	V450D	probably damaging	Het
Ephb6	G	T	6: 41,593,019 (GRCm39)	R419L	possibly damaging	Het
Fbxo10	G	C	4: 45,044,811 (GRCm39)	P608R	probably damaging	Het
Flrt1	A	G	19: 7,073,194 (GRCm39)	I451T	probably damaging	Het
Gm6309	A	T	5: 146,105,681 (GRCm39)	V161E	possibly damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Igsf1	C	A	X: 48,872,027 (GRCm39)	L714F	probably damaging	Het
Inpp4b	C	T	8: 82,723,931 (GRCm39)	P488S	probably damaging	Het
Ints6l	T	A	X: 55,550,110 (GRCm39)	H678Q	probably benign	Het
Itprid1	A	T	6: 55,944,704 (GRCm39)	Q475L	probably benign	Het
Kdm2a	A	T	19: 4,406,959 (GRCm39)		probably null	Het
Khdrbs3	G	T	15: 68,964,809 (GRCm39)	V249F	probably damaging	Het
Kmt2d	A	T	15: 98,758,930 (GRCm39)		probably null	Het
Laptm4a	T	C	12: 8,972,296 (GRCm39)		probably null	Het
Lrp2bp	C	T	8: 46,466,206 (GRCm39)	T105I	probably benign	Het
Lrrc37	A	C	11: 103,509,793 (GRCm39)		probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mtmr3	A	T	11: 4,449,032 (GRCm39)	W244R	probably damaging	Het
Myo18a	A	G	11: 77,709,441 (GRCm39)	D138G	probably damaging	Het
Nlrp9b	A	T	7: 19,757,587 (GRCm39)	I275L	probably benign	Het
Nol6	C	T	4: 41,118,720 (GRCm39)	R719H	probably benign	Het
Omt2b	G	A	9: 78,235,457 (GRCm39)		probably benign	Het
Or2a54	T	C	6: 43,092,999 (GRCm39)	S108P	probably benign	Het
Or5h23	A	T	16: 58,906,038 (GRCm39)	D269E	probably benign	Het
Or8g23	A	T	9: 38,971,701 (GRCm39)	I87K	probably benign	Het
Pclo	C	T	5: 14,763,862 (GRCm39)	L4112F	unknown	Het
Pglyrp2	T	C	17: 32,634,931 (GRCm39)	N477S	probably benign	Het
Phf20	T	C	2: 156,118,574 (GRCm39)	V426A	probably benign	Het
Pla2g4e	CTT	CTTT	2: 120,021,680 (GRCm39)		probably null	Het
Plagl1	A	C	10: 13,004,685 (GRCm39)		probably benign	Het
Ppip5k2	A	G	1: 97,671,835 (GRCm39)	V479A	probably damaging	Het
Prkdc	A	C	16: 15,516,688 (GRCm39)	T1021P	probably damaging	Het
Rdh7	C	T	10: 127,724,467 (GRCm39)	V6I	probably benign	Het
Rictor	A	T	15: 6,789,095 (GRCm39)	H237L	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,113,772 (GRCm39)		probably null	Het
Setd5	C	T	6: 113,088,390 (GRCm39)	Q173*	probably null	Het
Sipa1l1	T	A	12: 82,443,465 (GRCm39)	Y918*	probably null	Het
Slc13a1	T	G	6: 24,134,396 (GRCm39)	E162D	possibly damaging	Het
Slc39a9	G	A	12: 80,709,301 (GRCm39)	A52T	probably damaging	Het
Srebf1	T	C	11: 60,111,365 (GRCm39)	D2G	probably damaging	Het
Stab1	A	T	14: 30,864,757 (GRCm39)	M66K	probably benign	Het
Stab1	T	C	14: 30,881,227 (GRCm39)	N601S	probably damaging	Het
Sv2b	C	T	7: 74,773,836 (GRCm39)	G545D	probably damaging	Het
Syt5	G	A	7: 4,546,088 (GRCm39)	Q101*	probably null	Het
Thada	A	G	17: 84,753,949 (GRCm39)	F341L	probably benign	Het
Tln2	T	G	9: 67,262,503 (GRCm39)	I585L	probably damaging	Het
Tmem67	C	G	4: 12,069,413 (GRCm39)		probably null	Het
Tonsl	G	T	15: 76,516,880 (GRCm39)	L917M	probably damaging	Het
Ttk	A	G	9: 83,744,236 (GRCm39)	K519E	probably damaging	Het
Ttn	T	C	2: 76,537,478 (GRCm39)	T34817A	probably benign	Het
Ubr1	A	T	2: 120,756,528 (GRCm39)	S700T	probably damaging	Het
Unc13b	C	A	4: 43,245,566 (GRCm39)	C1312*	probably null	Het
Usp36	A	G	11: 118,175,849 (GRCm39)	L104P	possibly damaging	Het
Vmn1r216	T	C	13: 23,283,403 (GRCm39)	F29L	probably benign	Het
Vmn1r225	T	C	17: 20,723,147 (GRCm39)	I196T	probably damaging	Het
Vmn1r50	T	C	6: 90,085,121 (GRCm39)	F289L	probably benign	Het
Ythdf3	T	C	3: 16,257,375 (GRCm39)		probably benign	Het
Zfp507	T	A	7: 35,494,268 (GRCm39)	K258N	probably damaging	Het
Zscan5b	A	G	7: 6,234,442 (GRCm39)	H156R	possibly 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
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
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'- CTCTTCATTAGACCAAGATCCAAGC -3'
(R):5'- TCCCCATTTCTATCTGGCAGAG -3'

Sequencing Primer
(F):5'- CCCATGTAAGGCTGGCAG -3'
(R):5'- TTGATAAAGCCCGGAGAG -3'

Posted On

2014-10-02