Mutagenetix > Incidental Mutation

Incidental Mutation 'R0787:Abca8a'

76913

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

038967-MU

Accession Numbers

Essential gene?

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

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109916460-109986804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109933814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1197 (Y1197F)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

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

AlphaFold

Q8K442

Predicted Effect

probably benign
Transcript: ENSMUST00000046223
AA Change: Y1196F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: Y1196F

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: Y1197F

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: Y1197F

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: Y1197F

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: Y1197F

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001F09Rik	A	T	14: 43,202,950 (GRCm39)		probably null	Het
Abcc2	T	C	19: 43,786,955 (GRCm39)		probably null	Het
Adamts16	A	T	13: 70,886,948 (GRCm39)	C979S	probably damaging	Het
Agap2	T	A	10: 126,921,019 (GRCm39)	D523E	unknown	Het
Ankfy1	T	A	11: 72,651,122 (GRCm39)	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,700,315 (GRCm39)	S379G	probably null	Het
Arhgap40	T	C	2: 158,389,710 (GRCm39)	S625P	probably benign	Het
Armc12	G	C	17: 28,757,740 (GRCm39)	A291P	probably damaging	Het
Armc9	A	G	1: 86,130,227 (GRCm39)	N524D	probably damaging	Het
Col12a1	G	T	9: 79,545,767 (GRCm39)	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,036,079 (GRCm39)	N277S	probably benign	Het
Czib	T	A	4: 107,747,326 (GRCm39)	L6Q	probably damaging	Het
Dennd2b	G	T	7: 109,124,827 (GRCm39)	R1068S	possibly damaging	Het
E130311K13Rik	A	T	3: 63,827,719 (GRCm39)	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,772,696 (GRCm39)	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,336,010 (GRCm39)	E58G	probably damaging	Het
Fam217b	T	A	2: 178,062,702 (GRCm39)	V222E	probably benign	Het
Fat1	T	A	8: 45,493,592 (GRCm39)	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,241,765 (GRCm39)		probably benign	Het
Hltf	A	T	3: 20,160,610 (GRCm39)	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,880,425 (GRCm39)		probably benign	Het
Isg15	C	T	4: 156,284,396 (GRCm39)	R44H	probably benign	Het
Itga4	C	T	2: 79,109,497 (GRCm39)	T232I	probably benign	Het
Kntc1	C	A	5: 123,934,167 (GRCm39)	H1399Q	probably benign	Het
Lig1	A	C	7: 13,032,995 (GRCm39)	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,504,230 (GRCm39)	C29F	probably damaging	Het
Mtmr10	T	C	7: 63,950,363 (GRCm39)	I136T	possibly damaging	Het
Naip1	A	G	13: 100,562,604 (GRCm39)	Y854H	probably benign	Het
Or6c201	T	C	10: 128,969,395 (GRCm39)	N81D	possibly damaging	Het
Pcdh9	G	A	14: 94,124,193 (GRCm39)	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,487,479 (GRCm39)		probably benign	Het
Phgdh	A	G	3: 98,241,865 (GRCm39)	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,827,031 (GRCm39)	M326K	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,802,916 (GRCm39)	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,392,660 (GRCm39)	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,292,678 (GRCm39)	T326A	probably damaging	Het
Prr22	A	T	17: 57,078,072 (GRCm39)	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,514,894 (GRCm39)		probably null	Het
Rasal2	A	G	1: 156,986,266 (GRCm39)	S766P	probably damaging	Het
Shmt1	T	C	11: 60,683,802 (GRCm39)	T337A	probably benign	Het
Tbc1d4	A	T	14: 101,686,645 (GRCm39)	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,912,777 (GRCm39)	V1126A	probably benign	Het
Tep1	A	T	14: 51,066,687 (GRCm39)	S2304T	possibly damaging	Het
Tiam1	C	A	16: 89,586,449 (GRCm39)	R1446M	probably damaging	Het
Tmem87a	T	C	2: 120,200,965 (GRCm39)	I425V	probably benign	Het
Ubr3	T	C	2: 69,781,765 (GRCm39)		probably benign	Het
Ubxn7	T	A	16: 32,200,581 (GRCm39)		probably benign	Het
Vmn2r13	A	G	5: 109,304,713 (GRCm39)	S573P	probably damaging	Het
Wdfy3	A	T	5: 102,105,254 (GRCm39)	V191E	probably damaging	Het
Zdhhc3	A	T	9: 122,912,688 (GRCm39)	C153*	probably null	Het
Zfp407	A	T	18: 84,227,147 (GRCm39)	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,227,471 (GRCm39)	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,634 (GRCm39)	I227N	unknown	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
IGL02836:Abca8a	APN	11	109,961,177 (GRCm39)	missense	possibly damaging	0.89
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
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

Predicted Primers

PCR Primer
(F):5'- AACGTCATCCATACTTTAGGATGCACC -3'
(R):5'- AGTTGGTACTTCCTTTGTGCCCAAG -3'

Sequencing Primer
(F):5'- aatttacccattaatccatttcccc -3'
(R):5'- CTTTGTGCCCAAGGAAAAATCTG -3'

Posted On

2013-10-16