Mutagenetix > Incidental Mutation

Incidental Mutation 'R9337:Abcb9'

707238

Institutional Source

Beutler Lab

Gene Symbol

Abcb9

Ensembl Gene

ENSMUSG00000029408

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 9

Synonyms

TAPL

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9337 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124061530-124095798 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124090113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000031354 (fasta)

Gene Model

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

AlphaFold

Q9JJ59

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031354
AA Change: T22A

PolyPhen 2 Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031354
Gene: ENSMUSG00000029408
AA Change: T22A

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

possibly damaging
Transcript: ENSMUST00000126856
AA Change: T22A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118908
Gene: ENSMUSG00000029408
AA Change: T22A

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

possibly damaging
Transcript: ENSMUST00000141510
AA Change: T22A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122969
Gene: ENSMUSG00000029408
AA Change: T22A

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

Meta Mutation Damage Score

0.1779

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (65/65)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,085,098	V439A	possibly damaging	Het
Ahnak	G	A	19: 9,012,460		probably benign	Het
Arhgef10l	G	A	4: 140,611,313	T46I	probably damaging	Het
BC022687	T	C	12: 112,812,278	L218P	probably damaging	Het
C3ar1	A	G	6: 122,850,319	V313A	probably benign	Het
Capn13	T	A	17: 73,326,472		probably null	Het
Ccdc30	T	A	4: 119,333,723		probably null	Het
Ccdc7a	T	C	8: 128,889,838	Q928R	probably benign	Het
Cept1	A	G	3: 106,505,259	L299S	possibly damaging	Het
Cnot1	T	C	8: 95,741,820	I1460M	probably damaging	Het
Col4a2	T	C	8: 11,429,346	L743P	probably benign	Het
Cop1	T	C	1: 159,244,651	V179A	probably benign	Het
Cpvl	A	G	6: 53,932,494	I219T	probably damaging	Het
Cyc1	T	C	15: 76,344,306	V45A	probably benign	Het
Dnhd1	T	A	7: 105,720,599	N4410K	probably benign	Het
Dok4	T	A	8: 94,866,841	T106S	probably benign	Het
Exosc10	T	C	4: 148,581,131	F842L	probably damaging	Het
Fam24b	T	A	7: 131,326,220	Y80F	probably benign	Het
Fbn2	G	A	18: 58,209,651	A52V	probably benign	Het
Gal3st3	A	T	19: 5,306,840	N81I	probably damaging	Het
Gm13283	T	A	4: 88,760,799	V9E	possibly damaging	Het
Gm17026	A	G	14: 42,258,916	S58P		Het
Grm8	A	T	6: 27,761,215	S337T	probably benign	Het
Hdac5	G	A	11: 102,205,352	P332S	probably damaging	Het
Hr	A	T	14: 70,559,884	E519V	probably benign	Het
Hspbap1	A	G	16: 35,825,025	H360R	probably benign	Het
Iqgap3	T	G	3: 88,116,118		probably null	Het
Krtap5-3	T	A	7: 142,202,530	H175Q	unknown	Het
Lrrn4	A	T	2: 132,870,632	S424T	probably benign	Het
Lsm10	C	A	4: 126,097,867	H5Q	probably damaging	Het
Megf10	A	T	18: 57,261,180	K459*	probably null	Het
Myo15b	A	C	11: 115,859,035	K210N		Het
Olfr1085	T	C	2: 86,658,132	T109A	probably benign	Het
Olfr1126	T	A	2: 87,457,183	I6N	probably benign	Het
Park7	A	T	4: 150,907,096	C46S	probably damaging	Het
Pik3cb	A	G	9: 99,061,791	F653S	probably damaging	Het
Plekha1	T	A	7: 130,909,618	C311S	possibly damaging	Het
Pprc1	T	A	19: 46,063,759	M576K	unknown	Het
Prelid3b	G	A	2: 174,468,368	T74M	probably benign	Het
Prg4	T	C	1: 150,451,365	Y311C	probably damaging	Het
Prom2	A	C	2: 127,529,174	V801G	probably damaging	Het
Psmd9	T	A	5: 123,248,324	V44D	probably damaging	Het
Ptpn3	C	G	4: 57,218,521	L647F	probably damaging	Het
Ptprj	T	C	2: 90,439,894	D1286G	probably damaging	Het
Rcc2	T	C	4: 140,718,378	I449T	probably damaging	Het
Rev3l	A	T	10: 39,822,854	S1116C	probably benign	Het
Rnf212	A	T	5: 108,774,889	S32T	possibly damaging	Het
Rnf40	T	A	7: 127,589,000	S2T	probably benign	Het
Rrp8	T	C	7: 105,734,177	D294G	probably damaging	Het
Rtf2	A	T	2: 172,466,285	K201N	probably damaging	Het
Runx3	A	G	4: 135,163,263	T173A	probably damaging	Het
Sardh	T	C	2: 27,196,666	I827M	probably benign	Het
Sec22b	T	C	3: 97,921,178	Y186H	probably benign	Het
Serpina5	C	T	12: 104,105,283	T383I	possibly damaging	Het
Slc12a2	A	G	18: 57,930,166	D906G	probably damaging	Het
Socs1	T	C	16: 10,784,714	D53G	possibly damaging	Het
Stat1	G	T	1: 52,152,270	A595S	probably benign	Het
Stat3	A	T	11: 100,907,989		probably null	Het
Styxl1	T	C	5: 135,765,738	S82G	probably benign	Het
Taf1b	T	A	12: 24,547,122	D353E	possibly damaging	Het
Tbce	T	C	13: 14,019,813	K87R	probably benign	Het
Thada	T	C	17: 84,441,777	M589V	probably benign	Het
Them5	A	G	3: 94,346,741	M257V	unknown	Het
Tln1	A	T	4: 43,532,927	I2425N	probably damaging	Het
Tuba8	A	G	6: 121,225,864	S379G	probably damaging	Het
Vrk1	T	C	12: 106,058,698		probably null	Het
Zbtb34	T	C	2: 33,411,704	Y275C	probably damaging	Het
Zcwpw1	T	C	5: 137,801,012	C214R	probably benign	Het
Zeb2	A	G	2: 45,022,900	V137A	probably benign	Het

Other mutations in Abcb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Abcb9	APN	5	124077238	missense	possibly damaging	0.90
R0045:Abcb9	UTSW	5	124082085	missense	probably damaging	0.96
R0106:Abcb9	UTSW	5	124083060	missense	possibly damaging	0.70
R0153:Abcb9	UTSW	5	124080056	missense	probably benign	0.00
R0194:Abcb9	UTSW	5	124077295	missense	probably damaging	0.99
R0458:Abcb9	UTSW	5	124082146	critical splice acceptor site	probably null
R0669:Abcb9	UTSW	5	124062887	missense	probably damaging	0.97
R1240:Abcb9	UTSW	5	124089921	missense	probably benign	0.02
R1480:Abcb9	UTSW	5	124078826	missense	probably benign	0.00
R1544:Abcb9	UTSW	5	124083631	missense	probably benign
R1878:Abcb9	UTSW	5	124090136	missense	probably benign	0.02
R2355:Abcb9	UTSW	5	124077305	frame shift	probably null
R2358:Abcb9	UTSW	5	124077305	frame shift	probably null
R2520:Abcb9	UTSW	5	124080028	splice site	probably null
R2926:Abcb9	UTSW	5	124078839	missense	possibly damaging	0.84
R3795:Abcb9	UTSW	5	124090149	missense	probably benign	0.05
R3911:Abcb9	UTSW	5	124089846	missense	probably benign	0.06
R4679:Abcb9	UTSW	5	124078804	missense	probably benign	0.20
R4789:Abcb9	UTSW	5	124078790	missense	probably benign	0.00
R4821:Abcb9	UTSW	5	124090149	missense	probably benign	0.05
R5116:Abcb9	UTSW	5	124078867	missense	probably damaging	1.00
R5804:Abcb9	UTSW	5	124080055	missense	probably benign
R5997:Abcb9	UTSW	5	124089815	missense	possibly damaging	0.85
R6197:Abcb9	UTSW	5	124071749	nonsense	probably null
R7172:Abcb9	UTSW	5	124062806	nonsense	probably null
R7705:Abcb9	UTSW	5	124081955	nonsense	probably null
R7783:Abcb9	UTSW	5	124078812	nonsense	probably null
R7953:Abcb9	UTSW	5	124073602	missense	probably damaging	1.00
R7994:Abcb9	UTSW	5	124082027	missense	probably benign	0.13
R8043:Abcb9	UTSW	5	124073602	missense	probably damaging	1.00
R8079:Abcb9	UTSW	5	124083123	missense	possibly damaging	0.91
R8099:Abcb9	UTSW	5	124077245	missense	probably benign	0.02
R8395:Abcb9	UTSW	5	124080217	missense	possibly damaging	0.70
R8790:Abcb9	UTSW	5	124077241	missense	probably damaging	1.00
R8927:Abcb9	UTSW	5	124083643	missense	probably benign	0.00
R8928:Abcb9	UTSW	5	124083643	missense	probably benign	0.00
R9102:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9108:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9135:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9136:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9138:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9217:Abcb9	UTSW	5	124076027	missense	possibly damaging	0.95
R9338:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9339:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9412:Abcb9	UTSW	5	124083690	missense	probably benign	0.03
R9461:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9481:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9512:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62
R9520:Abcb9	UTSW	5	124090113	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ATAGATGCCCACAAAGAGGC -3'
(R):5'- GTCATGCAGCCATAGGAGTC -3'

Sequencing Primer
(F):5'- TGATGACGAGCCACGAAGCC -3'
(R):5'- AGCCATAGGAGTCCCCTCG -3'

Posted On

2022-04-18