Mutagenetix > Incidental Mutation

Incidental Mutation 'R4679:Abcb9'

349912

Institutional Source

Beutler Lab

Gene Symbol

Abcb9

Ensembl Gene

ENSMUSG00000029408

Gene Name

ATP-binding cassette, sub-family B member 9

Synonyms

TAPL

MMRRC Submission

041932-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124199920-124234009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124216867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 450 (V450A)

Ref Sequence

ENSEMBL: ENSMUSP00000031354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031354] [ENSMUST00000126856] [ENSMUST00000141510]

AlphaFold

Q9JJ59

Predicted Effect

probably benign
Transcript: ENSMUST00000031354
AA Change: V450A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: V450A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC
transmembrane domain	116	138	N/A	INTRINSIC
Pfam:ABC_membrane	184	453	1.9e-61	PFAM
AAA	527	713	4.07e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126856

SMART Domains

Protein: ENSMUSP00000118908
Gene: ENSMUSG00000029408

Domain	Start	End	E-Value	Type
transmembrane domain	7	27	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	218	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141510

SMART Domains

Protein: ENSMUSP00000122969
Gene: ENSMUSG00000029408

Domain	Start	End	E-Value	Type
transmembrane domain	7	27	N/A	INTRINSIC
transmembrane domain	47	69	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	218	237	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196486

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

98% (112/114)

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. The function of this half-transporter has not yet been determined; however, it may be associated with lysosome activity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,670,140 (GRCm39)	S121T	possibly damaging	Het
Abcg1	A	T	17: 31,333,235 (GRCm39)	R659S	probably benign	Het
Acad9	A	T	3: 36,142,989 (GRCm39)	N508I	possibly damaging	Het
Acrbp	T	A	6: 125,037,881 (GRCm39)	C393S	probably damaging	Het
Adcy7	T	C	8: 89,044,565 (GRCm39)	V486A	probably benign	Het
Adgrf1	G	T	17: 43,621,384 (GRCm39)	L540F	probably damaging	Het
Ap5m1	T	C	14: 49,316,285 (GRCm39)	I285T	probably benign	Het
Arhgap27	G	T	11: 103,251,775 (GRCm39)		probably benign	Het
Armc5	A	T	7: 127,839,276 (GRCm39)	E198V	possibly damaging	Het
Atp8b5	A	T	4: 43,365,955 (GRCm39)	K742M	probably benign	Het
Atp9a	T	G	2: 168,503,884 (GRCm39)	T603P	possibly damaging	Het
Bsn	A	G	9: 107,987,329 (GRCm39)	S2808P	unknown	Het
C9orf72	C	T	4: 35,226,033 (GRCm39)		probably benign	Het
Catsper4	T	C	4: 133,953,916 (GRCm39)	N81S	probably damaging	Het
Ccl17	C	G	8: 95,537,128 (GRCm39)	T10S	probably benign	Het
Cdc123	A	T	2: 5,849,703 (GRCm39)	V6D	probably damaging	Het
Cdca2	T	C	14: 67,952,415 (GRCm39)	K14E	possibly damaging	Het
Cdh3	C	A	8: 107,266,488 (GRCm39)	T302K	probably damaging	Het
Cdh9	A	G	15: 16,851,045 (GRCm39)	M605V	probably benign	Het
Cdk4	A	G	10: 126,900,780 (GRCm39)	E144G	possibly damaging	Het
Clasp1	C	T	1: 118,471,001 (GRCm39)	A879V	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cntn5	T	C	9: 9,970,536 (GRCm39)	D518G	probably benign	Het
Cog1	C	T	11: 113,543,116 (GRCm39)	A208V	probably damaging	Het
Col4a2	T	A	8: 11,481,337 (GRCm39)	H836Q	possibly damaging	Het
Copb1	T	C	7: 113,848,211 (GRCm39)	D108G	probably damaging	Het
Csmd3	A	T	15: 48,024,479 (GRCm39)	Y600*	probably null	Het
Cyb5r1	T	A	1: 134,335,571 (GRCm39)	H164Q	probably benign	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Fam110d	A	G	4: 133,978,747 (GRCm39)	S244P	probably damaging	Het
Fbln7	A	G	2: 128,736,806 (GRCm39)	Y311C	probably damaging	Het
Fign	A	C	2: 63,809,605 (GRCm39)	L555R	probably damaging	Het
Fkbp7	A	T	2: 76,502,032 (GRCm39)		probably benign	Het
Fmn2	T	C	1: 174,330,728 (GRCm39)	S373P	unknown	Het
Frmd4b	C	T	6: 97,272,627 (GRCm39)	D868N	possibly damaging	Het
Garin3	T	A	11: 46,295,640 (GRCm39)	M4K	possibly damaging	Het
Gfpt2	A	G	11: 49,714,564 (GRCm39)	N321S	probably benign	Het
Glmn	G	T	5: 107,708,941 (GRCm39)	T372K	probably damaging	Het
Gm26602	C	T	10: 79,746,808 (GRCm39)		probably benign	Het
Gm6797	A	G	X: 8,505,933 (GRCm39)		noncoding transcript	Het
Gpat3	T	A	5: 101,041,322 (GRCm39)	F383L	probably damaging	Het
H2-M11	C	T	17: 36,859,042 (GRCm39)	T194I	possibly damaging	Het
Hcn1	C	T	13: 117,793,551 (GRCm39)	H268Y	probably benign	Het
Hectd4	G	T	5: 121,463,314 (GRCm39)	C2345F	possibly damaging	Het
Htt	A	G	5: 34,977,424 (GRCm39)	D770G	probably benign	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Ipo9	A	G	1: 135,321,907 (GRCm39)	F608L	probably benign	Het
Irak1	A	C	X: 73,065,995 (GRCm39)		probably benign	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Lag3	T	A	6: 124,881,508 (GRCm39)	Q488L	possibly damaging	Het
Large2	A	T	2: 92,197,903 (GRCm39)	L266Q	probably benign	Het
Lrp3	T	G	7: 34,903,365 (GRCm39)	D327A	probably damaging	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Mettl14	G	A	3: 123,163,063 (GRCm39)		probably benign	Het
Miga1	A	G	3: 152,028,112 (GRCm39)	V139A	probably damaging	Het
Mthfd2l	A	C	5: 91,096,770 (GRCm39)	R130S	probably benign	Het
Myo1b	A	G	1: 51,797,132 (GRCm39)	I970T	possibly damaging	Het
Nat10	C	A	2: 103,562,515 (GRCm39)	W607L	probably damaging	Het
Nop56	A	G	2: 130,120,193 (GRCm39)	T183A	probably benign	Het
Or10h1	A	G	17: 33,418,367 (GRCm39)	H115R	probably benign	Het
Or2d4	A	T	7: 106,544,152 (GRCm39)	S19T	probably benign	Het
Or4c10	A	G	2: 89,761,008 (GRCm39)	Y285C	possibly damaging	Het
Or4d1	T	A	11: 87,805,136 (GRCm39)	M199L	probably benign	Het
Or52j3	A	G	7: 102,836,309 (GRCm39)	Y167C	probably benign	Het
Or5ae2	T	A	7: 84,506,112 (GRCm39)	Y178*	probably null	Het
Pcdhb12	T	C	18: 37,570,002 (GRCm39)	F383L	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plscr2	T	G	9: 92,169,823 (GRCm39)	L91R	probably benign	Het
Plxnc1	T	A	10: 94,630,306 (GRCm39)	Y1531F	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rcsd1	T	A	1: 165,483,493 (GRCm39)	N166I	probably damaging	Het
Ripor1	T	A	8: 106,344,417 (GRCm39)	I517K	possibly damaging	Het
Ryr2	T	A	13: 11,839,255 (GRCm39)	H506L	probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Septin14	T	C	5: 129,770,090 (GRCm39)	D202G	possibly damaging	Het
Siglec1	A	T	2: 130,915,331 (GRCm39)	L1420Q	possibly damaging	Het
Slc22a29	T	A	19: 8,138,948 (GRCm39)	I505F	possibly damaging	Het
Sorcs1	T	A	19: 50,171,107 (GRCm39)	Y927F	probably benign	Het
Spats2	T	G	15: 99,078,603 (GRCm39)	M191R	possibly damaging	Het
Sycp1	C	T	3: 102,829,778 (GRCm39)		probably null	Het
T2	A	G	17: 8,609,848 (GRCm39)	E99G	possibly damaging	Het
Taf3	G	A	2: 10,053,375 (GRCm39)		probably benign	Het
Tnfsf10	A	T	3: 27,389,728 (GRCm39)	N263I	probably damaging	Het
Treml2	A	T	17: 48,615,203 (GRCm39)	R229S	probably benign	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Ttc9	G	T	12: 81,678,375 (GRCm39)	C66F	probably damaging	Het
Vmn2r63	C	T	7: 42,577,544 (GRCm39)	M331I	probably benign	Het
Zfp353-ps	T	C	8: 42,535,251 (GRCm39)		noncoding transcript	Het
Zfp932	A	T	5: 110,157,760 (GRCm39)	H486L	probably damaging	Het

Other mutations in Abcb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Abcb9	APN	5	124,215,301 (GRCm39)	missense	possibly damaging	0.90
R0045:Abcb9	UTSW	5	124,220,148 (GRCm39)	missense	probably damaging	0.96
R0106:Abcb9	UTSW	5	124,221,123 (GRCm39)	missense	possibly damaging	0.70
R0153:Abcb9	UTSW	5	124,218,119 (GRCm39)	missense	probably benign	0.00
R0194:Abcb9	UTSW	5	124,215,358 (GRCm39)	missense	probably damaging	0.99
R0458:Abcb9	UTSW	5	124,220,209 (GRCm39)	critical splice acceptor site	probably null
R0669:Abcb9	UTSW	5	124,200,950 (GRCm39)	missense	probably damaging	0.97
R1240:Abcb9	UTSW	5	124,227,984 (GRCm39)	missense	probably benign	0.02
R1480:Abcb9	UTSW	5	124,216,889 (GRCm39)	missense	probably benign	0.00
R1544:Abcb9	UTSW	5	124,221,694 (GRCm39)	missense	probably benign
R1878:Abcb9	UTSW	5	124,228,199 (GRCm39)	missense	probably benign	0.02
R2355:Abcb9	UTSW	5	124,215,368 (GRCm39)	frame shift	probably null
R2358:Abcb9	UTSW	5	124,215,368 (GRCm39)	frame shift	probably null
R2520:Abcb9	UTSW	5	124,218,091 (GRCm39)	splice site	probably null
R2926:Abcb9	UTSW	5	124,216,902 (GRCm39)	missense	possibly damaging	0.84
R3795:Abcb9	UTSW	5	124,228,212 (GRCm39)	missense	probably benign	0.05
R3911:Abcb9	UTSW	5	124,227,909 (GRCm39)	missense	probably benign	0.06
R4789:Abcb9	UTSW	5	124,216,853 (GRCm39)	missense	probably benign	0.00
R4821:Abcb9	UTSW	5	124,228,212 (GRCm39)	missense	probably benign	0.05
R5116:Abcb9	UTSW	5	124,216,930 (GRCm39)	missense	probably damaging	1.00
R5804:Abcb9	UTSW	5	124,218,118 (GRCm39)	missense	probably benign
R5997:Abcb9	UTSW	5	124,227,878 (GRCm39)	missense	possibly damaging	0.85
R6197:Abcb9	UTSW	5	124,209,812 (GRCm39)	nonsense	probably null
R7172:Abcb9	UTSW	5	124,200,869 (GRCm39)	nonsense	probably null
R7705:Abcb9	UTSW	5	124,220,018 (GRCm39)	nonsense	probably null
R7783:Abcb9	UTSW	5	124,216,875 (GRCm39)	nonsense	probably null
R7953:Abcb9	UTSW	5	124,211,665 (GRCm39)	missense	probably damaging	1.00
R7994:Abcb9	UTSW	5	124,220,090 (GRCm39)	missense	probably benign	0.13
R8043:Abcb9	UTSW	5	124,211,665 (GRCm39)	missense	probably damaging	1.00
R8079:Abcb9	UTSW	5	124,221,186 (GRCm39)	missense	possibly damaging	0.91
R8099:Abcb9	UTSW	5	124,215,308 (GRCm39)	missense	probably benign	0.02
R8395:Abcb9	UTSW	5	124,218,280 (GRCm39)	missense	possibly damaging	0.70
R8790:Abcb9	UTSW	5	124,215,304 (GRCm39)	missense	probably damaging	1.00
R8927:Abcb9	UTSW	5	124,221,706 (GRCm39)	missense	probably benign	0.00
R8928:Abcb9	UTSW	5	124,221,706 (GRCm39)	missense	probably benign	0.00
R9102:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9108:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9135:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9136:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9138:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9217:Abcb9	UTSW	5	124,214,090 (GRCm39)	missense	possibly damaging	0.95
R9337:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9338:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9339:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9412:Abcb9	UTSW	5	124,221,753 (GRCm39)	missense	probably benign	0.03
R9461:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9481:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9512:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62
R9520:Abcb9	UTSW	5	124,228,176 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CAGTTCACCATTTGTGCCGG -3'
(R):5'- CTTGCTAACAGGGAACAGAGTTG -3'

Sequencing Primer
(F):5'- GCGGTTGCTTCTCTGGCAC -3'
(R):5'- CAGAGTTGGGGGACAGAGTAG -3'

Posted On

2015-10-08