Mutagenetix > Incidental Mutation

Incidental Mutation 'R1708:Abca8a'

190246

Institutional Source

Beutler Lab

Gene Symbol

Abca8a

Ensembl Gene

ENSMUSG00000041828

Gene Name

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

Synonyms

MMRRC Submission

039741-MU

Accession Numbers

Essential gene?

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

Stock #

R1708 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109916460-109986804 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109943928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1114 (S1114T)

Ref Sequence

ENSEMBL: ENSMUSP00000102275 (fasta)

Gene Model

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

AlphaFold

Q8K442

Predicted Effect

probably damaging
Transcript: ENSMUST00000046223
AA Change: S1113T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045808
Gene: ENSMUSG00000041828
AA Change: S1113T

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

probably damaging
Transcript: ENSMUST00000100287
AA Change: S1114T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097860
Gene: ENSMUSG00000041828
AA Change: S1114T

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

probably damaging
Transcript: ENSMUST00000106664
AA Change: S1114T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102275
Gene: ENSMUSG00000041828
AA Change: S1114T

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	A	T	6: 40,941,732 (GRCm39)	I4F	probably benign	Het
Aadacl4fm1	T	C	4: 144,246,511 (GRCm39)	V19A	probably benign	Het
Adgre1	A	T	17: 57,708,974 (GRCm39)	Y55F	possibly damaging	Het
Alb	A	C	5: 90,611,910 (GRCm39)	D113A	possibly damaging	Het
Ankrd33b	C	T	15: 31,305,155 (GRCm39)	R203Q	probably damaging	Het
Aqp6	T	C	15: 99,500,543 (GRCm39)	V156A	possibly damaging	Het
AU018091	T	C	7: 3,206,184 (GRCm39)	S616G	probably damaging	Het
Cfd	T	A	10: 79,727,441 (GRCm39)	D68E	probably benign	Het
Cntn2	C	T	1: 132,446,936 (GRCm39)	A725T	probably damaging	Het
Copg2	A	C	6: 30,801,312 (GRCm39)	D373E	probably damaging	Het
Cyp2d11	T	C	15: 82,274,633 (GRCm39)	T315A	probably benign	Het
Cyp2j13	G	T	4: 95,950,304 (GRCm39)	N232K	probably damaging	Het
Cyp2j8	A	T	4: 96,387,832 (GRCm39)	F210I	probably damaging	Het
Dnah9	G	A	11: 65,805,980 (GRCm39)	T3373M	probably benign	Het
Eif2ak3	A	G	6: 70,864,790 (GRCm39)	K549E	probably damaging	Het
Epha3	C	T	16: 63,403,870 (GRCm39)	V744I	probably damaging	Het
Erich6	T	C	3: 58,523,868 (GRCm39)	S669G	probably benign	Het
Fam90a1a	A	T	8: 22,451,464 (GRCm39)	K108N	probably damaging	Het
Fat1	G	A	8: 45,477,829 (GRCm39)	V2292M	probably damaging	Het
Fibp	T	C	19: 5,513,822 (GRCm39)	C255R	probably null	Het
Fzd1	A	G	5: 4,805,791 (GRCm39)	V597A	possibly damaging	Het
Gm12790	G	A	4: 101,825,174 (GRCm39)	A80V	possibly damaging	Het
Gm2381	A	T	7: 42,469,649 (GRCm39)	N158K	probably benign	Het
Impg2	T	A	16: 56,085,441 (GRCm39)	D940E	probably benign	Het
Ints1	A	T	5: 139,748,594 (GRCm39)	V1071E	probably damaging	Het
Kat5	A	T	19: 5,659,507 (GRCm39)	Y44*	probably null	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra6	A	C	6: 129,999,677 (GRCm39)	L97*	probably null	Het
Ly6c2	C	T	15: 74,983,469 (GRCm39)		probably null	Het
Mon1a	G	A	9: 107,775,917 (GRCm39)	E12K	probably benign	Het
Myo3b	A	T	2: 70,075,729 (GRCm39)	K578*	probably null	Het
Myrip	A	T	9: 120,293,840 (GRCm39)	R778S	possibly damaging	Het
Ncoa4-ps	A	G	12: 119,225,968 (GRCm39)		noncoding transcript	Het
Or2w4	C	T	13: 21,795,240 (GRCm39)	A300T	probably damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
Or4c35	A	G	2: 89,808,382 (GRCm39)	R87G	probably benign	Het
Or52n4b	T	A	7: 108,143,781 (GRCm39)	F14L	probably benign	Het
Or5b121	T	C	19: 13,507,277 (GRCm39)	V80A	probably damaging	Het
Panx3	T	C	9: 37,572,687 (GRCm39)	I288V	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pigc	T	A	1: 161,798,293 (GRCm39)	S92T	probably benign	Het
Pou3f2	C	A	4: 22,487,255 (GRCm39)	V293L	possibly damaging	Het
Rbm15	A	G	3: 107,238,536 (GRCm39)	S621P	probably damaging	Het
Rnf220	T	C	4: 117,347,083 (GRCm39)	S110G	probably benign	Het
Rnf38	A	T	4: 44,143,593 (GRCm39)	V115D	probably damaging	Het
Rps6ka2	A	G	17: 7,544,929 (GRCm39)	H347R	probably damaging	Het
Ryr2	T	C	13: 11,602,328 (GRCm39)		probably null	Het
Sema4f	G	T	6: 82,894,975 (GRCm39)	P407T	probably damaging	Het
Setbp1	T	C	18: 78,901,682 (GRCm39)	T662A	probably damaging	Het
Slc27a1	C	A	8: 72,037,274 (GRCm39)		probably null	Het
Slc41a2	T	A	10: 83,069,596 (GRCm39)	I519F	probably damaging	Het
Sntg2	C	T	12: 30,423,179 (GRCm39)	S17N	possibly damaging	Het
Sptb	A	G	12: 76,659,348 (GRCm39)	L1184P	probably damaging	Het
Taf5l	G	A	8: 124,736,509 (GRCm39)	Q21*	probably null	Het
Tbc1d32	A	C	10: 56,027,865 (GRCm39)	S746A	possibly damaging	Het
Tdrd1	T	G	19: 56,830,721 (GRCm39)	S251R	probably benign	Het
Thap7	C	T	16: 17,346,814 (GRCm39)	R121Q	probably benign	Het
Tmem50a	A	G	4: 134,625,779 (GRCm39)	V146A	probably benign	Het
Tmprss15	T	C	16: 78,850,958 (GRCm39)	I327V	possibly damaging	Het
Tmt1a3	A	G	15: 100,233,150 (GRCm39)	N114D	probably damaging	Het
Ttc23	T	C	7: 67,316,924 (GRCm39)	I65T	probably damaging	Het
Vmn1r22	G	T	6: 57,877,481 (GRCm39)	H165Q	possibly damaging	Het
Vopp1	C	T	6: 57,739,497 (GRCm39)	R17H	probably damaging	Het
Vwa5a	A	G	9: 38,639,128 (GRCm39)	K337E	probably benign	Het
Wrap53	G	A	11: 69,454,761 (GRCm39)	R203*	probably null	Het
Zfp944	T	C	17: 22,558,026 (GRCm39)	Y407C	probably damaging	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
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

Posted On

2014-05-14