Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02836:Abca8a'

361674

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

ATP-binding cassette, sub-family A member 8a

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02836

Quality Score

Status

Chromosome

Chromosomal Location

109916460-109986804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109961177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 582 (K582E)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046223] [ENSMUST00000100287] [ENSMUST00000106664]

AlphaFold

Q8K442

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046223
AA Change: K581E

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: K581E

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	8e-26	PFAM
AAA	505	689	6.27e-9	SMART
Pfam:ABC2_membrane_3	860	1174	6.8e-15	PFAM
transmembrane domain	1196	1218	N/A	INTRINSIC
low complexity region	1246	1255	N/A	INTRINSIC
low complexity region	1288	1301	N/A	INTRINSIC
AAA	1313	1493	4.3e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100287
AA Change: K582E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: K582E

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	27	416	3.9e-26	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1175	3.3e-15	PFAM
transmembrane domain	1197	1219	N/A	INTRINSIC
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106664
AA Change: K582E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: K582E

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	28	416	1.7e-23	PFAM
AAA	506	690	6.27e-9	SMART
Pfam:ABC2_membrane_3	861	1214	1.3e-12	PFAM
low complexity region	1247	1256	N/A	INTRINSIC
low complexity region	1289	1302	N/A	INTRINSIC
AAA	1314	1494	4.3e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129810

Predicted Effect

unknown
Transcript: ENSMUST00000146635
AA Change: K198E

SMART Domains

Protein: ENSMUSP00000114393
Gene: ENSMUSG00000041828
AA Change: K198E

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:ABC_tran	114	210	4.5e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154849

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,349,782 (GRCm39)	N346K	possibly damaging	Het
Abca15	A	G	7: 119,987,439 (GRCm39)	M1242V	probably benign	Het
Abca6	T	A	11: 110,139,374 (GRCm39)	E33D	probably damaging	Het
Abcb6	A	G	1: 75,154,646 (GRCm39)	L263P	probably damaging	Het
Adamts2	A	C	11: 50,678,106 (GRCm39)	E795A	probably damaging	Het
Avil	T	A	10: 126,844,864 (GRCm39)	I292N	probably damaging	Het
Cd300ld2	T	C	11: 114,904,576 (GRCm39)	D97G	probably benign	Het
Cfh	A	C	1: 140,030,137 (GRCm39)	I912R	probably damaging	Het
Cyp26c1	A	T	19: 37,675,604 (GRCm39)	Q156L	probably benign	Het
Dhx57	T	C	17: 80,574,978 (GRCm39)	I614V	probably damaging	Het
Dip2c	T	A	13: 9,660,826 (GRCm39)	S896T	probably damaging	Het
Dmtn	G	T	14: 70,853,518 (GRCm39)	P97Q	probably damaging	Het
Dock6	A	T	9: 21,713,160 (GRCm39)	V1931E	probably damaging	Het
Dpep2	C	A	8: 106,717,227 (GRCm39)		probably null	Het
Dsg1c	T	A	18: 20,400,986 (GRCm39)	L163Q	probably benign	Het
Esyt3	A	G	9: 99,202,960 (GRCm39)		probably benign	Het
Fcgbp	T	A	7: 27,816,783 (GRCm39)	I2415N	possibly damaging	Het
Fpr-rs6	T	C	17: 20,403,307 (GRCm39)	D18G	probably benign	Het
Fras1	T	C	5: 96,682,725 (GRCm39)	V74A	possibly damaging	Het
Frem3	T	C	8: 81,341,010 (GRCm39)	V1101A	probably benign	Het
Fut8	T	A	12: 77,496,987 (GRCm39)	V399E	probably benign	Het
Galntl5	G	T	5: 25,391,237 (GRCm39)	K45N	probably benign	Het
Gbe1	A	G	16: 70,357,983 (GRCm39)	Y669C	possibly damaging	Het
Gcnt1	T	C	19: 17,307,493 (GRCm39)	I77M	probably benign	Het
Itprid1	T	A	6: 55,875,075 (GRCm39)	W342R	probably damaging	Het
Mark2	A	G	19: 7,255,405 (GRCm39)		probably null	Het
Muc2	A	T	7: 141,300,450 (GRCm39)		probably benign	Het
Nacc2	C	T	2: 25,980,329 (GRCm39)	V36I	probably damaging	Het
Nphp1	T	C	2: 127,611,543 (GRCm39)	I268V	probably benign	Het
Oosp3	A	G	19: 11,678,332 (GRCm39)	I5V	probably benign	Het
Or9m1	T	G	2: 87,733,724 (GRCm39)	T99P	possibly damaging	Het
Pex7	A	G	10: 19,769,990 (GRCm39)		probably benign	Het
Prr14l	T	C	5: 32,988,440 (GRCm39)	K352E	probably benign	Het
Rheb	T	A	5: 25,008,709 (GRCm39)	I170F	probably benign	Het
Rpgrip1	A	G	14: 52,382,714 (GRCm39)		probably null	Het
Rps2	T	A	17: 24,939,650 (GRCm39)	L107Q	probably damaging	Het
Rrp1	A	T	10: 78,240,874 (GRCm39)		probably benign	Het
Rtcb	A	T	10: 85,779,806 (GRCm39)	V288D	possibly damaging	Het
Sec14l3	T	C	11: 4,020,084 (GRCm39)	F174L	probably benign	Het
Slc28a1	G	A	7: 80,775,909 (GRCm39)	V202M	probably damaging	Het
Slc44a3	A	T	3: 121,325,366 (GRCm39)	C32S	probably damaging	Het
Syne1	G	A	10: 5,359,875 (GRCm39)		probably benign	Het
Synrg	C	A	11: 83,892,804 (GRCm39)		probably benign	Het
Tmem219	A	T	7: 126,488,121 (GRCm39)	F265I	probably benign	Het
Tmem94	T	C	11: 115,683,765 (GRCm39)	I726T	probably damaging	Het
Trim37	T	C	11: 87,087,785 (GRCm39)	M632T	probably benign	Het
Trpm6	A	T	19: 18,790,846 (GRCm39)	Q627L	probably damaging	Het
Uvrag	A	G	7: 98,628,984 (GRCm39)	V361A	possibly damaging	Het
Yipf3	C	A	17: 46,562,520 (GRCm39)	N308K	possibly damaging	Het
Zfp438	A	G	18: 5,245,427 (GRCm39)		probably benign	Het
Zmiz1	T	A	14: 25,657,166 (GRCm39)		probably benign	Het
Zranb3	A	G	1: 127,888,562 (GRCm39)	V841A	probably benign	Het

Other mutations in Abca8a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Abca8a	APN	11	109,941,765 (GRCm39)	missense	possibly damaging	0.52
IGL01099:Abca8a	APN	11	109,965,031 (GRCm39)	splice site	probably benign
IGL01100:Abca8a	APN	11	109,949,249 (GRCm39)	critical splice donor site	probably null
IGL01310:Abca8a	APN	11	109,950,801 (GRCm39)	missense	probably benign	0.02
IGL01357:Abca8a	APN	11	109,922,398 (GRCm39)	missense	probably benign	0.05
IGL01554:Abca8a	APN	11	109,932,992 (GRCm39)	missense	probably benign	0.24
IGL01937:Abca8a	APN	11	109,974,130 (GRCm39)	splice site	probably benign
IGL01945:Abca8a	APN	11	109,974,130 (GRCm39)	splice site	probably benign
IGL01987:Abca8a	APN	11	109,964,981 (GRCm39)	missense	possibly damaging	0.63
IGL02023:Abca8a	APN	11	109,953,942 (GRCm39)	missense	probably benign	0.04
IGL02208:Abca8a	APN	11	109,950,772 (GRCm39)	missense	probably damaging	1.00
IGL02378:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02380:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02387:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02388:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02524:Abca8a	APN	11	109,969,641 (GRCm39)	unclassified	probably benign
IGL02551:Abca8a	APN	11	109,975,068 (GRCm39)	missense	probably benign	0.05
IGL02831:Abca8a	APN	11	109,943,907 (GRCm39)	missense	probably damaging	1.00
IGL02934:Abca8a	APN	11	109,931,414 (GRCm39)	missense	probably damaging	1.00
IGL02946:Abca8a	APN	11	109,919,041 (GRCm39)	splice site	probably benign
IGL02967:Abca8a	APN	11	109,941,762 (GRCm39)	missense	probably damaging	1.00
IGL02997:Abca8a	APN	11	109,966,359 (GRCm39)	splice site	probably benign
IGL03265:Abca8a	APN	11	109,943,929 (GRCm39)	missense	probably benign	0.01
G5030:Abca8a	UTSW	11	109,961,165 (GRCm39)	missense	probably damaging	1.00
H8562:Abca8a	UTSW	11	109,933,835 (GRCm39)	missense	probably benign
PIT4445001:Abca8a	UTSW	11	109,966,377 (GRCm39)	missense	probably damaging	0.99
R0060:Abca8a	UTSW	11	109,961,306 (GRCm39)	missense	probably damaging	1.00
R0060:Abca8a	UTSW	11	109,961,306 (GRCm39)	missense	probably damaging	1.00
R0084:Abca8a	UTSW	11	109,927,423 (GRCm39)	splice site	probably benign
R0394:Abca8a	UTSW	11	109,917,169 (GRCm39)	missense	probably damaging	0.99
R0477:Abca8a	UTSW	11	109,956,051 (GRCm39)	missense	probably benign
R0593:Abca8a	UTSW	11	109,958,925 (GRCm39)	missense	probably damaging	1.00
R0744:Abca8a	UTSW	11	109,931,390 (GRCm39)	missense	possibly damaging	0.91
R0764:Abca8a	UTSW	11	109,950,772 (GRCm39)	missense	probably damaging	1.00
R0787:Abca8a	UTSW	11	109,933,814 (GRCm39)	missense	possibly damaging	0.60
R0836:Abca8a	UTSW	11	109,931,390 (GRCm39)	missense	possibly damaging	0.91
R0848:Abca8a	UTSW	11	109,919,016 (GRCm39)	missense	probably damaging	1.00
R0894:Abca8a	UTSW	11	109,941,792 (GRCm39)	missense	probably benign	0.00
R1163:Abca8a	UTSW	11	109,962,356 (GRCm39)	missense	probably benign	0.01
R1224:Abca8a	UTSW	11	109,931,408 (GRCm39)	missense	probably damaging	1.00
R1474:Abca8a	UTSW	11	109,960,635 (GRCm39)	missense	probably damaging	1.00
R1596:Abca8a	UTSW	11	109,958,886 (GRCm39)	missense	possibly damaging	0.89
R1708:Abca8a	UTSW	11	109,943,928 (GRCm39)	missense	probably damaging	1.00
R1715:Abca8a	UTSW	11	109,982,406 (GRCm39)	missense	probably damaging	0.98
R1795:Abca8a	UTSW	11	109,941,792 (GRCm39)	missense	probably benign	0.00
R1832:Abca8a	UTSW	11	109,962,277 (GRCm39)	missense	probably damaging	0.99
R1852:Abca8a	UTSW	11	109,960,212 (GRCm39)	missense	probably damaging	1.00
R1887:Abca8a	UTSW	11	109,980,768 (GRCm39)	missense	probably damaging	1.00
R1891:Abca8a	UTSW	11	109,982,433 (GRCm39)	missense	probably benign	0.20
R1917:Abca8a	UTSW	11	109,982,341 (GRCm39)	splice site	probably benign
R1943:Abca8a	UTSW	11	109,960,689 (GRCm39)	missense	probably benign	0.00
R1962:Abca8a	UTSW	11	109,917,731 (GRCm39)	critical splice acceptor site	probably null
R2016:Abca8a	UTSW	11	109,961,213 (GRCm39)	missense	probably damaging	0.99
R2037:Abca8a	UTSW	11	109,980,810 (GRCm39)	splice site	probably null
R2098:Abca8a	UTSW	11	109,927,405 (GRCm39)	missense	probably damaging	1.00
R2102:Abca8a	UTSW	11	109,958,878 (GRCm39)	missense	probably damaging	1.00
R2134:Abca8a	UTSW	11	109,921,743 (GRCm39)	missense	probably null	1.00
R2220:Abca8a	UTSW	11	109,917,681 (GRCm39)	missense	probably damaging	1.00
R2269:Abca8a	UTSW	11	109,917,718 (GRCm39)	missense	probably damaging	1.00
R2395:Abca8a	UTSW	11	109,959,614 (GRCm39)	missense	probably damaging	1.00
R2847:Abca8a	UTSW	11	109,932,931 (GRCm39)	missense	probably damaging	1.00
R2849:Abca8a	UTSW	11	109,932,931 (GRCm39)	missense	probably damaging	1.00
R3508:Abca8a	UTSW	11	109,953,991 (GRCm39)	missense	probably benign
R3974:Abca8a	UTSW	11	109,974,328 (GRCm39)	missense	probably damaging	1.00
R4009:Abca8a	UTSW	11	109,980,933 (GRCm39)	missense	probably damaging	0.98
R4163:Abca8a	UTSW	11	109,941,808 (GRCm39)	missense	probably benign	0.00
R4274:Abca8a	UTSW	11	109,980,930 (GRCm39)	missense	probably damaging	0.96
R4507:Abca8a	UTSW	11	109,953,851 (GRCm39)	missense	probably benign	0.19
R4571:Abca8a	UTSW	11	109,920,884 (GRCm39)	missense	probably damaging	1.00
R4672:Abca8a	UTSW	11	109,962,702 (GRCm39)	missense	possibly damaging	0.94
R4700:Abca8a	UTSW	11	109,961,308 (GRCm39)	missense	probably damaging	1.00
R4770:Abca8a	UTSW	11	109,962,341 (GRCm39)	missense	possibly damaging	0.82
R4946:Abca8a	UTSW	11	109,977,300 (GRCm39)	missense	probably damaging	1.00
R4955:Abca8a	UTSW	11	109,927,338 (GRCm39)	missense	probably benign	0.00
R5186:Abca8a	UTSW	11	109,982,425 (GRCm39)	missense	probably null	0.31
R5190:Abca8a	UTSW	11	109,980,735 (GRCm39)	critical splice donor site	probably null
R5597:Abca8a	UTSW	11	109,927,363 (GRCm39)	missense	probably damaging	1.00
R5677:Abca8a	UTSW	11	109,929,225 (GRCm39)	missense	possibly damaging	0.51
R5757:Abca8a	UTSW	11	109,933,794 (GRCm39)	missense	probably benign	0.28
R5822:Abca8a	UTSW	11	109,921,705 (GRCm39)	missense	probably damaging	0.98
R5925:Abca8a	UTSW	11	109,948,049 (GRCm39)	missense	probably damaging	1.00
R6090:Abca8a	UTSW	11	109,954,048 (GRCm39)	critical splice acceptor site	probably null
R6122:Abca8a	UTSW	11	109,961,249 (GRCm39)	missense	probably benign	0.40
R6189:Abca8a	UTSW	11	109,921,710 (GRCm39)	missense	probably damaging	1.00
R6200:Abca8a	UTSW	11	109,980,876 (GRCm39)	missense	probably damaging	0.98
R6374:Abca8a	UTSW	11	109,974,216 (GRCm39)	nonsense	probably null
R7022:Abca8a	UTSW	11	109,974,326 (GRCm39)	missense	probably damaging	1.00
R7161:Abca8a	UTSW	11	109,964,968 (GRCm39)	missense	probably benign	0.09
R7198:Abca8a	UTSW	11	109,969,481 (GRCm39)	missense	probably damaging	1.00
R7220:Abca8a	UTSW	11	109,980,793 (GRCm39)	missense	probably benign	0.00
R7290:Abca8a	UTSW	11	109,921,714 (GRCm39)	missense	probably benign	0.03
R7381:Abca8a	UTSW	11	109,920,913 (GRCm39)	splice site	probably null
R7437:Abca8a	UTSW	11	109,941,790 (GRCm39)	missense	probably benign
R7733:Abca8a	UTSW	11	109,945,413 (GRCm39)	missense	probably benign	0.02
R7785:Abca8a	UTSW	11	109,965,032 (GRCm39)	splice site	probably null
R7917:Abca8a	UTSW	11	109,958,933 (GRCm39)	missense	probably damaging	1.00
R7948:Abca8a	UTSW	11	109,941,805 (GRCm39)	missense	probably benign
R7957:Abca8a	UTSW	11	109,982,439 (GRCm39)	start codon destroyed	probably null	1.00
R7958:Abca8a	UTSW	11	109,922,498 (GRCm39)	missense	probably damaging	1.00
R7981:Abca8a	UTSW	11	109,980,739 (GRCm39)	missense	probably benign	0.00
R8033:Abca8a	UTSW	11	109,927,348 (GRCm39)	missense	probably damaging	1.00
R8069:Abca8a	UTSW	11	109,980,876 (GRCm39)	missense	probably damaging	0.98
R8116:Abca8a	UTSW	11	109,982,420 (GRCm39)	missense	probably benign	0.27
R8289:Abca8a	UTSW	11	109,927,515 (GRCm39)	intron	probably benign
R8334:Abca8a	UTSW	11	109,959,650 (GRCm39)	missense	probably damaging	1.00
R8371:Abca8a	UTSW	11	109,945,473 (GRCm39)	missense	probably benign	0.31
R8406:Abca8a	UTSW	11	109,977,343 (GRCm39)	missense	probably damaging	1.00
R8438:Abca8a	UTSW	11	109,966,404 (GRCm39)	missense	probably damaging	1.00
R8670:Abca8a	UTSW	11	109,966,424 (GRCm39)	missense	probably damaging	1.00
R8807:Abca8a	UTSW	11	109,974,252 (GRCm39)	missense	probably benign	0.35
R8821:Abca8a	UTSW	11	109,949,362 (GRCm39)	missense	probably damaging	0.98
R8838:Abca8a	UTSW	11	109,920,881 (GRCm39)	missense	probably damaging	1.00
R8884:Abca8a	UTSW	11	109,964,941 (GRCm39)	missense	possibly damaging	0.60
R8885:Abca8a	UTSW	11	109,960,305 (GRCm39)	missense	probably damaging	1.00
R8962:Abca8a	UTSW	11	109,969,634 (GRCm39)	missense	probably damaging	1.00
R8966:Abca8a	UTSW	11	109,962,245 (GRCm39)	critical splice donor site	probably null
R9272:Abca8a	UTSW	11	109,953,908 (GRCm39)	missense	probably damaging	0.99
R9331:Abca8a	UTSW	11	109,917,154 (GRCm39)	missense	probably damaging	1.00
R9397:Abca8a	UTSW	11	109,921,173 (GRCm39)	missense	probably damaging	1.00
R9498:Abca8a	UTSW	11	109,977,374 (GRCm39)	missense	probably damaging	0.99
R9529:Abca8a	UTSW	11	109,947,167 (GRCm39)	nonsense	probably null
R9564:Abca8a	UTSW	11	109,965,010 (GRCm39)	missense	probably benign	0.04
X0022:Abca8a	UTSW	11	109,921,923 (GRCm39)	missense	probably damaging	1.00
X0024:Abca8a	UTSW	11	109,974,161 (GRCm39)	missense	probably damaging	1.00
X0053:Abca8a	UTSW	11	109,974,310 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-12-18