Mutagenetix > Incidental Mutation

Incidental Mutation 'R4954:Abcb5'

381498

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

MMRRC Submission

042551-MU

Accession Numbers

Essential gene?

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

Stock #

R4954 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 118875169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 668 (H668Y)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably benign
Transcript: ENSMUST00000035515
AA Change: H668Y

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: H668Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000100982

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (66/66)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	C	T	17: 72,209,687 (GRCm39)	W919*	probably null	Het
Aoc3	G	A	11: 101,222,925 (GRCm39)	G387D	probably damaging	Het
Arhgap26	T	A	18: 39,376,694 (GRCm39)	C441S	probably benign	Het
Arhgap28	C	A	17: 68,176,008 (GRCm39)	E100*	probably null	Het
Ate1	C	T	7: 130,110,748 (GRCm39)	G186D	probably benign	Het
Birc6	T	A	17: 74,919,026 (GRCm39)	L1948H	probably damaging	Het
Bmp2k	C	T	5: 97,234,623 (GRCm39)		probably benign	Het
Ccin	A	T	4: 43,985,077 (GRCm39)	I495F	probably benign	Het
Cir1	T	A	2: 73,140,848 (GRCm39)	E40D	probably benign	Het
Cyp3a57	A	T	5: 145,307,765 (GRCm39)		probably null	Het
Dennd1b	A	G	1: 138,981,124 (GRCm39)	T113A	probably damaging	Het
Dnah2	G	A	11: 69,430,322 (GRCm39)	P79S	possibly damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Dync2i1	T	C	12: 116,219,645 (GRCm39)	D99G	probably damaging	Het
Enpep	A	T	3: 129,077,829 (GRCm39)	I596N	probably damaging	Het
Eps15	G	A	4: 109,227,875 (GRCm39)		probably null	Het
Ext1	T	C	15: 53,207,888 (GRCm39)	D291G	probably damaging	Het
Gm12883	T	C	4: 121,252,198 (GRCm39)		noncoding transcript	Het
Gm9921	A	G	12: 45,484,383 (GRCm39)		noncoding transcript	Het
H2-T22	C	A	17: 36,352,851 (GRCm39)	W85C	probably damaging	Het
Heatr1	G	A	13: 12,422,397 (GRCm39)		probably null	Het
Hspa4l	T	A	3: 40,739,832 (GRCm39)		probably null	Het
Kcnc3	CTT	CT	7: 44,240,720 (GRCm39)		probably null	Het
Kpna1	T	C	16: 35,853,696 (GRCm39)	V442A	probably damaging	Het
Mogat2	T	C	7: 98,887,724 (GRCm39)	T17A	possibly damaging	Het
Musk	C	T	4: 58,344,222 (GRCm39)	T285I	probably damaging	Het
Myorg	G	A	4: 41,498,241 (GRCm39)	A463V	possibly damaging	Het
Nbea	T	G	3: 55,943,379 (GRCm39)	Q632P	probably damaging	Het
Ncoa3	T	C	2: 165,907,706 (GRCm39)	V1105A	probably benign	Het
Neb	T	C	2: 52,067,530 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,061,318 (GRCm39)	K970*	probably null	Het
Oog2	A	T	4: 143,917,302 (GRCm39)		probably benign	Het
Or13g1	T	C	7: 85,955,809 (GRCm39)	I171V	probably benign	Het
Or2a57	A	G	6: 43,213,318 (GRCm39)	M259V	probably benign	Het
Or52a24	A	G	7: 103,381,414 (GRCm39)	I94V	probably damaging	Het
Otos	T	C	1: 92,572,167 (GRCm39)	Y53C	probably damaging	Het
Oxct2a	A	T	4: 123,216,252 (GRCm39)	C376*	probably null	Het
Pate12	A	T	9: 36,344,156 (GRCm39)	K46N	probably benign	Het
Phf14	C	A	6: 11,987,619 (GRCm39)	Q633K	probably benign	Het
Pkdrej	T	A	15: 85,700,602 (GRCm39)	N1778I	probably damaging	Het
Psmc3	C	T	2: 90,885,974 (GRCm39)		probably benign	Het
Rbm33	A	T	5: 28,544,274 (GRCm39)	I177F	probably damaging	Het
Rps6ka2	A	G	17: 7,539,003 (GRCm39)	D307G	probably benign	Het
Rps6ka2	G	A	17: 7,566,685 (GRCm39)	V648I	probably benign	Het
Scn11a	C	T	9: 119,587,725 (GRCm39)	V1340M	possibly damaging	Het
Sema7a	T	C	9: 57,863,663 (GRCm39)	W279R	probably damaging	Het
Slc2a10	A	T	2: 165,356,675 (GRCm39)	I112F	probably damaging	Het
Stk4	C	A	2: 163,993,601 (GRCm39)	S77R	possibly damaging	Het
Stk4	T	A	2: 163,993,602 (GRCm39)	W78R	probably damaging	Het
Syf2	T	A	4: 134,662,283 (GRCm39)	L99*	probably null	Het
Tas2r104	A	T	6: 131,661,968 (GRCm39)	I247K	probably damaging	Het
Usp15	G	T	10: 122,967,303 (GRCm39)	R368S	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Vmn2r2	T	A	3: 64,047,905 (GRCm39)	L20F	probably benign	Het
Zcchc4	A	T	5: 52,976,559 (GRCm39)	H451L	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
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'- TTGTAGGAAGGAACAGCATGTTTTC -3'
(R):5'- CATGTACACTCTTCCTTTAAGGCAC -3'

Sequencing Primer
(F):5'- CTGCCCAACAGGACCTTTTTGAC -3'
(R):5'- GGCACTATTATGACAGCATGC -3'

Posted On

2016-04-27