Mutagenetix > Incidental Mutation

Incidental Mutation 'R8884:Abca8a'

677185

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

068690-MU

Accession Numbers

Essential gene?

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

Stock #

R8884 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109916460-109986804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109964941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 453 (D453G)

Ref Sequence

ENSEMBL: ENSMUSP00000097860 (fasta)

Gene Model

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

AlphaFold

Q8K442

Predicted Effect

probably benign
Transcript: ENSMUST00000046223
AA Change: D452G

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

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: D452G

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: D453G

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: D453G

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: D453G

PolyPhen 2 Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: D453G

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

SMART Domains

Protein: ENSMUSP00000114393
Gene: ENSMUSG00000041828
AA Change: D69G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,354 (GRCm39)	F168Y	probably damaging	Het
4932438H23Rik	T	C	16: 90,852,737 (GRCm39)	Y133C	probably damaging	Het
Aasdh	A	G	5: 77,039,641 (GRCm39)	S223P	possibly damaging	Het
Acsl6	T	A	11: 54,236,728 (GRCm39)	F541I	probably damaging	Het
Agfg1	A	T	1: 82,860,110 (GRCm39)	K326*	probably null	Het
Aldh1l2	T	C	10: 83,344,541 (GRCm39)	N448S	probably benign	Het
Alx4	A	G	2: 93,473,355 (GRCm39)	K118E	possibly damaging	Het
Atp9b	T	A	18: 80,838,562 (GRCm39)	T451S		Het
B4galt6	A	T	18: 20,822,072 (GRCm39)	N307K	probably benign	Het
Cacna1s	G	A	1: 136,042,981 (GRCm39)	M1569I	probably benign	Het
Cacng6	C	T	7: 3,478,984 (GRCm39)	T121I	probably damaging	Het
Cdc5l	C	A	17: 45,744,467 (GRCm39)		probably benign	Het
Cdh20	A	T	1: 110,027,860 (GRCm39)	D535V	probably damaging	Het
Chrnb3	T	C	8: 27,883,946 (GRCm39)	F228L	possibly damaging	Het
Clca3a1	A	T	3: 144,719,757 (GRCm39)	D404E	probably benign	Het
Commd8	G	A	5: 72,325,514 (GRCm39)		probably benign	Het
Cpn1	T	A	19: 43,954,615 (GRCm39)	Q337L	possibly damaging	Het
Dctn6	T	C	8: 34,557,933 (GRCm39)	T180A	probably benign	Het
Ddx60	A	G	8: 62,447,553 (GRCm39)	E1180G	possibly damaging	Het
Dock4	T	A	12: 40,856,884 (GRCm39)	L1239Q	probably damaging	Het
Dop1b	T	C	16: 93,556,550 (GRCm39)	I469T	probably benign	Het
Enpep	A	T	3: 129,115,052 (GRCm39)	I240N	possibly damaging	Het
Fat3	G	A	9: 15,941,280 (GRCm39)	T1337I	probably damaging	Het
Fbxw13	T	A	9: 109,010,469 (GRCm39)	M390L	probably benign	Het
Fgr	C	T	4: 132,713,609 (GRCm39)	P46S	probably benign	Het
Galnt1	T	A	18: 24,400,641 (GRCm39)	M249K	probably benign	Het
Gm40460	A	T	7: 141,794,555 (GRCm39)	C87*	probably null	Het
Hcn4	C	T	9: 58,760,705 (GRCm39)	R417C	unknown	Het
Insr	T	C	8: 3,205,679 (GRCm39)	N1370S	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,414,089 (GRCm39)	E722K		Het
Larp6	G	A	9: 60,620,682 (GRCm39)	G65E		Het
Mindy4	T	C	6: 55,255,223 (GRCm39)	L567P	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc16	G	A	9: 18,555,496 (GRCm39)	T3599I	unknown	Het
Muc5b	T	C	7: 141,403,156 (GRCm39)	F706L	unknown	Het
Nbea	A	T	3: 55,712,720 (GRCm39)	M2119K	probably benign	Het
Or13a18	C	T	7: 140,190,616 (GRCm39)	P171L	probably damaging	Het
Or13a24	A	T	7: 140,154,224 (GRCm39)	T53S	probably benign	Het
Paip1	G	A	13: 119,574,553 (GRCm39)	V83I	probably damaging	Het
Pdcd1lg2	G	T	19: 29,423,318 (GRCm39)		probably null	Het
Pde7a	G	A	3: 19,281,858 (GRCm39)	A464V	probably benign	Het
Pfkfb2	A	G	1: 130,634,213 (GRCm39)	F155L	probably damaging	Het
Pimreg	A	G	11: 71,936,513 (GRCm39)	D192G	possibly damaging	Het
Prkd3	T	C	17: 79,282,193 (GRCm39)	D320G	probably damaging	Het
Rgs7	A	G	1: 174,980,730 (GRCm39)	V98A	probably benign	Het
Ric3	C	T	7: 108,637,688 (GRCm39)	G356D	probably benign	Het
Rsph4a	T	C	10: 33,781,840 (GRCm39)		probably benign	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sez6l	T	C	5: 112,622,910 (GRCm39)	T214A	probably damaging	Het
Sipa1l1	T	G	12: 82,409,871 (GRCm39)	V595G	probably damaging	Het
Spata31h1	T	A	10: 82,119,486 (GRCm39)	H4508L	probably damaging	Het
Spta1	G	T	1: 174,045,254 (GRCm39)		probably null	Het
Ssbp2	A	G	13: 91,836,989 (GRCm39)		probably benign	Het
Syne1	T	G	10: 5,181,822 (GRCm39)	Q4171P	possibly damaging	Het
Tgfb2	G	A	1: 186,364,907 (GRCm39)	T232I	probably damaging	Het
Tmem175	A	G	5: 108,794,327 (GRCm39)	S486G	probably benign	Het
Tmprss15	A	G	16: 78,821,657 (GRCm39)	V466A	probably benign	Het
Treh	C	G	9: 44,595,800 (GRCm39)		probably benign	Het
Ttc14	A	G	3: 33,854,696 (GRCm39)	S8G	unknown	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Vmn1r44	T	C	6: 89,870,458 (GRCm39)	L68P	probably damaging	Het
Vmn2r37	T	G	7: 9,218,916 (GRCm39)	L489F	probably benign	Het
Vmn2r52	T	A	7: 9,892,734 (GRCm39)	T802S	probably damaging	Het
Wsb2	T	A	5: 117,508,769 (GRCm39)	F68I	probably benign	Het
Zbtb8os	T	C	4: 129,236,924 (GRCm39)	V113A	probably benign	Het
Zfp354a	A	T	11: 50,950,805 (GRCm39)		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
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
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
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'- TGGGGCAGGCTCCATATTAG -3'
(R):5'- GGAAGTGCCTGTTCATTCTTATC -3'

Sequencing Primer
(F):5'- TGCCCAGGCTCAAGGAACTTAG -3'
(R):5'- TGTGTGCATATGTGTGAGCAAGTAC -3'

Posted On

2021-08-02