Mutagenetix > Incidental Mutation

Incidental Mutation 'R5416:Abcb5'

427753

Institutional Source

Beutler Lab

Gene Symbol

Abcb5

Ensembl Gene

ENSMUSG00000072791

Gene Name

ATP-binding cassette, sub-family B member 5

Synonyms

9230106F14Rik

MMRRC Submission

042985-MU

Accession Numbers

Essential gene?

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

Stock #

R5416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118831559-118930156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118871331 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 689 (E689D)

Ref Sequence

ENSEMBL: ENSMUSP00000046177 (fasta)

Gene Model

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

AlphaFold

B5X0E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000035515
AA Change: E689D

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

SMART Domains

Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: E689D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,227,997 (GRCm39)	E339G	probably benign	Het
Adcy3	G	A	12: 4,259,308 (GRCm39)	E861K	probably damaging	Het
Adrm1	C	T	2: 179,817,930 (GRCm39)	T394I	probably benign	Het
Adsl	T	A	15: 80,836,384 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,551 (GRCm39)	C1854S	probably damaging	Het
C87436	A	G	6: 86,442,832 (GRCm39)	Y458C	probably damaging	Het
Cacna1e	T	C	1: 154,341,525 (GRCm39)	D1161G	probably damaging	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccr1	G	T	9: 123,764,413 (GRCm39)	P39H	probably damaging	Het
Cdh18	A	G	15: 23,226,809 (GRCm39)	Y90C	probably damaging	Het
Chadl	T	C	15: 81,578,100 (GRCm39)	R510G	probably benign	Het
Clcnkb	T	C	4: 141,141,211 (GRCm39)	T115A	probably benign	Het
Clptm1	C	A	7: 19,367,741 (GRCm39)		probably benign	Het
Col24a1	A	T	3: 145,020,786 (GRCm39)	R386*	probably null	Het
Ctsj	G	T	13: 61,152,337 (GRCm39)	L10M	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dhx40	T	C	11: 86,688,517 (GRCm39)	D302G	probably benign	Het
Edrf1	T	C	7: 133,243,131 (GRCm39)	F166L	possibly damaging	Het
Epha1	A	T	6: 42,342,805 (GRCm39)	M248K	probably damaging	Het
Evpl	C	A	11: 116,125,085 (GRCm39)	V126L	probably benign	Het
Fam83d	T	C	2: 158,627,552 (GRCm39)	C414R	possibly damaging	Het
Fat2	T	C	11: 55,194,514 (GRCm39)	N1175S	possibly damaging	Het
Fhad1	G	A	4: 141,646,113 (GRCm39)	T283I	probably benign	Het
Fuca1	A	G	4: 135,650,291 (GRCm39)	T121A	probably damaging	Het
Gm13941	A	T	2: 110,925,079 (GRCm39)	S175T	unknown	Het
Gpr107	T	A	2: 31,075,560 (GRCm39)	I357N	probably damaging	Het
Gpr161	T	A	1: 165,149,030 (GRCm39)	H466Q	probably benign	Het
Hsd3b5	A	G	3: 98,526,466 (GRCm39)	F327L	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Itgb7	A	T	15: 102,125,744 (GRCm39)	D628E	probably benign	Het
Nwd1	A	G	8: 73,393,322 (GRCm39)	D236G	possibly damaging	Het
Or56b2j	C	T	7: 104,352,923 (GRCm39)	L50F	probably benign	Het
Or6d14	A	T	6: 116,534,166 (GRCm39)	Y260F	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdhb8	A	G	18: 37,490,008 (GRCm39)	Y562C	probably damaging	Het
Phkg2	A	G	7: 127,182,107 (GRCm39)	H376R	possibly damaging	Het
Plxnc1	G	A	10: 94,673,416 (GRCm39)	T1018I	probably damaging	Het
Ppp6r1	A	T	7: 4,642,747 (GRCm39)	D532E	possibly damaging	Het
Prkdc	T	C	16: 15,623,814 (GRCm39)	L3259P	probably damaging	Het
Prkg2	A	T	5: 99,091,326 (GRCm39)	D641E	probably benign	Het
Psg26	T	C	7: 18,216,525 (GRCm39)	T105A	probably benign	Het
Ptprs	T	C	17: 56,742,724 (GRCm39)	T473A	probably damaging	Het
Pwp2	G	T	10: 78,018,835 (GRCm39)	N57K	probably damaging	Het
Rnf216	G	T	5: 143,001,526 (GRCm39)	C733*	probably null	Het
Serpina1f	T	A	12: 103,660,203 (GRCm39)	K26N	possibly damaging	Het
Sez6l2	T	A	7: 126,561,058 (GRCm39)	C448S	probably damaging	Het
Slc28a3	A	T	13: 58,724,607 (GRCm39)	L216M	probably damaging	Het
Sorbs1	A	G	19: 40,365,433 (GRCm39)	S117P	probably benign	Het
Sorl1	A	T	9: 41,913,932 (GRCm39)	C1332*	probably null	Het
Specc1	T	C	11: 62,009,735 (GRCm39)	V497A	probably benign	Het
Tmem204	T	C	17: 25,277,300 (GRCm39)	E195G	probably damaging	Het
Tnfrsf13b	T	C	11: 61,037,849 (GRCm39)		probably null	Het
Ttll5	G	A	12: 86,059,602 (GRCm39)	V1250M	possibly damaging	Het
Ube4a	G	A	9: 44,852,476 (GRCm39)	T681I	probably damaging	Het
Ubqln3	C	T	7: 103,790,879 (GRCm39)	V404I	probably benign	Het
Yeats2	T	C	16: 20,030,319 (GRCm39)	S919P	probably benign	Het
Zfp575	C	T	7: 24,286,147 (GRCm39)	G3D	probably benign	Het
Zfp644	C	T	5: 106,766,294 (GRCm39)		silent	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
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'- GAAAGTTCTGGTTCCCATTGTG -3'
(R):5'- GACTCATCGTTAGTAATAACAGTGG -3'

Sequencing Primer
(F):5'- GCTGATCAATACAATACAGCTCTGTG -3'
(R):5'- TCCAGTGCACTTCCGTAT -3'

Posted On

2016-09-01