Mutagenetix > Incidental Mutation

Incidental Mutation 'R1876:Abca16'

211227

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

039898-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120032608 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 209 (D209A)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056042] [ENSMUST00000120490]

AlphaFold

E9PWJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000056042
AA Change: D209A

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D209A

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	26	455	2.7e-23	PFAM
AAA	537	720	2.01e-7	SMART
Pfam:ABC2_membrane_3	898	1287	4.6e-25	PFAM
low complexity region	1325	1336	N/A	INTRINSIC
low complexity region	1342	1353	N/A	INTRINSIC
AAA	1378	1563	4.23e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120490
AA Change: D209A

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

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D209A

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	25	456	2.4e-22	PFAM
AAA	538	721	2.01e-7	SMART
Pfam:ABC2_membrane_3	899	1288	1.1e-27	PFAM
low complexity region	1326	1337	N/A	INTRINSIC
low complexity region	1343	1354	N/A	INTRINSIC
AAA	1379	1564	4.23e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144122

SMART Domains

Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	2	133	1e-16	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

Allele List at MGI

All alleles(4) : Targeted(3) Gene trapped(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,025,396 (GRCm39)	C961F	probably damaging	Het
Adamts14	T	C	10: 61,036,151 (GRCm39)	I1047V	probably benign	Het
Ak1	A	G	2: 32,520,282 (GRCm39)	K27E	probably damaging	Het
Akap9	T	A	5: 4,011,809 (GRCm39)	D837E	probably benign	Het
Arfgef3	T	C	10: 18,473,104 (GRCm39)	Y1653C	probably damaging	Het
Atad2	T	G	15: 57,970,264 (GRCm39)	I446L	probably benign	Het
Atp8b3	T	G	10: 80,365,912 (GRCm39)	T313P	possibly damaging	Het
Btg4	T	C	9: 51,028,489 (GRCm39)	L72S	probably damaging	Het
Canx	A	G	11: 50,195,186 (GRCm39)	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663 (GRCm39)	E250K	probably benign	Het
Chchd10	T	A	10: 75,772,166 (GRCm39)	S46T	probably benign	Het
Col12a1	G	T	9: 79,585,563 (GRCm39)	Y1271*	probably null	Het
Col3a1	G	A	1: 45,381,395 (GRCm39)		probably null	Het
Ctc1	A	T	11: 68,922,390 (GRCm39)	T872S	probably benign	Het
Cx3cl1	T	C	8: 95,507,048 (GRCm39)	F351S	probably damaging	Het
Cyb5r4	T	A	9: 86,937,867 (GRCm39)	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,105,656 (GRCm39)	T285A	probably benign	Het
Dip2a	G	A	10: 76,153,925 (GRCm39)	T135M	probably damaging	Het
Eif1ad18	T	G	12: 88,050,810 (GRCm39)	I115S	probably damaging	Het
Fgf10	A	G	13: 118,925,695 (GRCm39)	E158G	probably damaging	Het
Ftcd	G	T	10: 76,417,403 (GRCm39)	A281S	probably benign	Het
Gpat4	A	T	8: 23,669,486 (GRCm39)	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,376,673 (GRCm39)	L541P	probably damaging	Het
Grk5	T	C	19: 61,071,663 (GRCm39)	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,153,627 (GRCm39)		probably null	Het
Hsd17b13	T	A	5: 104,116,633 (GRCm39)	N127I	probably damaging	Het
Hspa4	T	G	11: 53,174,983 (GRCm39)	D158A	probably benign	Het
Ice2	G	A	9: 69,322,857 (GRCm39)	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,298,169 (GRCm39)	I144K	possibly damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrrc49	T	C	9: 60,495,060 (GRCm39)	I652V	possibly damaging	Het
Man1a	A	T	10: 53,795,268 (GRCm39)	W571R	probably damaging	Het
Mecom	A	G	3: 30,047,807 (GRCm39)	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,691,224 (GRCm39)	I162T	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,716 (GRCm39)	W265R	probably damaging	Het
Mup21	C	T	4: 62,067,663 (GRCm39)	V79I	probably benign	Het
Myh11	G	A	16: 14,086,967 (GRCm39)		probably benign	Het
Myom3	T	A	4: 135,506,711 (GRCm39)	F495I	probably benign	Het
Ncoa7	A	T	10: 30,574,122 (GRCm39)		probably benign	Het
Nisch	T	C	14: 30,895,594 (GRCm39)	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,766,435 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,775 (GRCm39)	I215F	possibly damaging	Het
Or4k1	A	G	14: 50,377,629 (GRCm39)	S156P	probably damaging	Het
Pdcl	A	C	2: 37,245,708 (GRCm39)	H98Q	probably damaging	Het
Pink1	A	G	4: 138,043,013 (GRCm39)	V427A	probably damaging	Het
Plce1	T	C	19: 38,769,067 (GRCm39)	S2242P	probably damaging	Het
Plrg1	C	A	3: 82,976,375 (GRCm39)		probably benign	Het
Plxnc1	A	G	10: 94,702,803 (GRCm39)	F586S	possibly damaging	Het
Pnpla7	G	A	2: 24,930,985 (GRCm39)	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,001,631 (GRCm39)	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,521,971 (GRCm39)		probably benign	Het
Pros1	A	T	16: 62,723,881 (GRCm39)	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,395,841 (GRCm39)	S839P	probably benign	Het
Ptpre	T	C	7: 135,280,046 (GRCm39)	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,645,259 (GRCm39)	A142T	probably damaging	Het
Safb2	T	C	17: 56,883,909 (GRCm39)		probably null	Het
Scnn1a	A	G	6: 125,315,801 (GRCm39)	E384G	probably benign	Het
Sec23ip	A	G	7: 128,354,575 (GRCm39)	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,793,637 (GRCm39)	T42M	probably damaging	Het
Slc6a4	A	T	11: 76,905,990 (GRCm39)	T264S	probably benign	Het
Srgap3	A	G	6: 112,752,527 (GRCm39)	M319T	probably damaging	Het
Strn4	T	A	7: 16,572,207 (GRCm39)	I640N	probably damaging	Het
Tacc2	A	G	7: 130,225,475 (GRCm39)	D739G	probably benign	Het
Tigd4	T	A	3: 84,501,242 (GRCm39)	L53*	probably null	Het
Tlr6	T	A	5: 65,112,763 (GRCm39)	D48V	probably damaging	Het
Tmem125	T	C	4: 118,399,101 (GRCm39)	D110G	probably damaging	Het
Tmem198	A	G	1: 75,461,567 (GRCm39)	D341G	probably damaging	Het
Tnfaip3	A	G	10: 18,880,682 (GRCm39)	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 122,761,669 (GRCm39)		probably benign	Het
Ush2a	T	A	1: 188,410,486 (GRCm39)	I2378N	possibly damaging	Het
Usp47	A	G	7: 111,654,127 (GRCm39)	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,506,900 (GRCm39)	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,595,505 (GRCm39)	V393D	probably damaging	Het

Other mutations in Abca16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Abca16	APN	7	120,022,982 (GRCm39)	missense	probably benign	0.08
IGL00590:Abca16	APN	7	120,023,038 (GRCm39)	missense	probably damaging	1.00
IGL01320:Abca16	APN	7	120,038,422 (GRCm39)	missense	probably damaging	1.00
IGL01322:Abca16	APN	7	120,038,422 (GRCm39)	missense	probably damaging	1.00
IGL01613:Abca16	APN	7	120,140,500 (GRCm39)	missense	probably benign	0.03
IGL01774:Abca16	APN	7	120,021,024 (GRCm39)	splice site	probably benign
IGL01774:Abca16	APN	7	120,077,058 (GRCm39)	missense	probably damaging	1.00
IGL01797:Abca16	APN	7	120,113,760 (GRCm39)	missense	probably benign	0.15
IGL02406:Abca16	APN	7	120,139,825 (GRCm39)	missense	probably damaging	1.00
IGL02437:Abca16	APN	7	120,132,952 (GRCm39)	missense	probably benign	0.00
IGL02541:Abca16	APN	7	120,113,881 (GRCm39)	missense	possibly damaging	0.91
IGL02576:Abca16	APN	7	120,032,678 (GRCm39)	missense	probably benign	0.05
IGL02578:Abca16	APN	7	120,023,179 (GRCm39)	critical splice donor site	probably null
IGL03156:Abca16	APN	7	120,023,074 (GRCm39)	missense	possibly damaging	0.69
IGL03381:Abca16	APN	7	120,127,041 (GRCm39)	missense	probably benign	0.12
PIT4802001:Abca16	UTSW	7	120,139,351 (GRCm39)	missense	probably benign	0.31
R0024:Abca16	UTSW	7	120,032,608 (GRCm39)	missense	probably damaging	1.00
R0026:Abca16	UTSW	7	120,077,146 (GRCm39)	splice site	probably benign
R0026:Abca16	UTSW	7	120,077,146 (GRCm39)	splice site	probably benign
R0123:Abca16	UTSW	7	120,139,378 (GRCm39)	missense	probably damaging	1.00
R0134:Abca16	UTSW	7	120,139,378 (GRCm39)	missense	probably damaging	1.00
R0225:Abca16	UTSW	7	120,139,378 (GRCm39)	missense	probably damaging	1.00
R0346:Abca16	UTSW	7	120,035,155 (GRCm39)	missense	probably damaging	1.00
R0355:Abca16	UTSW	7	120,023,021 (GRCm39)	missense	possibly damaging	0.68
R0358:Abca16	UTSW	7	120,143,939 (GRCm39)	missense	probably benign	0.01
R0525:Abca16	UTSW	7	120,065,033 (GRCm39)	nonsense	probably null
R0617:Abca16	UTSW	7	120,032,834 (GRCm39)	splice site	probably benign
R0625:Abca16	UTSW	7	120,035,116 (GRCm39)	missense	probably damaging	1.00
R0835:Abca16	UTSW	7	120,065,007 (GRCm39)	missense	probably benign	0.42
R1445:Abca16	UTSW	7	120,119,256 (GRCm39)	missense	probably benign	0.41
R1535:Abca16	UTSW	7	120,139,928 (GRCm39)	missense	probably benign	0.30
R1567:Abca16	UTSW	7	120,030,352 (GRCm39)	missense	probably benign	0.08
R1694:Abca16	UTSW	7	120,119,307 (GRCm39)	missense	probably damaging	1.00
R1860:Abca16	UTSW	7	120,133,986 (GRCm39)	missense	probably benign	0.02
R1913:Abca16	UTSW	7	120,140,463 (GRCm39)	missense	probably benign	0.04
R1940:Abca16	UTSW	7	120,032,832 (GRCm39)	splice site	probably benign
R2042:Abca16	UTSW	7	120,143,941 (GRCm39)	missense	probably benign
R2115:Abca16	UTSW	7	120,139,868 (GRCm39)	missense	probably damaging	1.00
R2122:Abca16	UTSW	7	120,119,184 (GRCm39)	missense	probably damaging	1.00
R2265:Abca16	UTSW	7	120,030,383 (GRCm39)	missense	probably benign	0.03
R2267:Abca16	UTSW	7	120,030,383 (GRCm39)	missense	probably benign	0.03
R2269:Abca16	UTSW	7	120,030,383 (GRCm39)	missense	probably benign	0.03
R2993:Abca16	UTSW	7	120,134,384 (GRCm39)	missense	probably damaging	1.00
R3055:Abca16	UTSW	7	120,035,074 (GRCm39)	missense	probably benign	0.05
R3956:Abca16	UTSW	7	120,126,975 (GRCm39)	missense	probably damaging	0.96
R4114:Abca16	UTSW	7	120,126,290 (GRCm39)	missense	probably benign	0.06
R4441:Abca16	UTSW	7	120,127,024 (GRCm39)	missense	probably benign	0.04
R4601:Abca16	UTSW	7	120,035,920 (GRCm39)	missense	probably damaging	0.98
R4706:Abca16	UTSW	7	120,064,988 (GRCm39)	missense	probably damaging	1.00
R4807:Abca16	UTSW	7	120,139,832 (GRCm39)	missense	probably damaging	1.00
R4824:Abca16	UTSW	7	120,074,702 (GRCm39)	missense	possibly damaging	0.86
R4937:Abca16	UTSW	7	120,126,309 (GRCm39)	missense	probably damaging	0.98
R5152:Abca16	UTSW	7	120,139,846 (GRCm39)	missense	probably benign	0.02
R5257:Abca16	UTSW	7	120,035,992 (GRCm39)	critical splice donor site	probably null
R5258:Abca16	UTSW	7	120,035,992 (GRCm39)	critical splice donor site	probably null
R5330:Abca16	UTSW	7	120,102,600 (GRCm39)	missense	probably benign	0.15
R5388:Abca16	UTSW	7	120,139,969 (GRCm39)	critical splice donor site	probably null
R5590:Abca16	UTSW	7	120,143,995 (GRCm39)	missense	probably damaging	0.98
R5810:Abca16	UTSW	7	120,035,155 (GRCm39)	missense	probably damaging	1.00
R6030:Abca16	UTSW	7	120,133,021 (GRCm39)	missense	probably benign
R6030:Abca16	UTSW	7	120,133,021 (GRCm39)	missense	probably benign
R6161:Abca16	UTSW	7	120,139,934 (GRCm39)	missense	probably damaging	1.00
R6313:Abca16	UTSW	7	120,126,344 (GRCm39)	missense	probably damaging	1.00
R6485:Abca16	UTSW	7	120,026,390 (GRCm39)	nonsense	probably null
R6527:Abca16	UTSW	7	120,076,995 (GRCm39)	missense	possibly damaging	0.95
R6772:Abca16	UTSW	7	120,126,276 (GRCm39)	missense	probably damaging	1.00
R6885:Abca16	UTSW	7	120,119,332 (GRCm39)	missense	probably benign	0.07
R6899:Abca16	UTSW	7	120,126,264 (GRCm39)	missense	probably damaging	1.00
R6941:Abca16	UTSW	7	120,140,370 (GRCm39)	missense	probably damaging	1.00
R6990:Abca16	UTSW	7	120,126,950 (GRCm39)	missense	probably benign	0.00
R7059:Abca16	UTSW	7	120,020,971 (GRCm39)	missense	probably benign	0.00
R7144:Abca16	UTSW	7	120,032,796 (GRCm39)	missense	possibly damaging	0.89
R7146:Abca16	UTSW	7	120,126,974 (GRCm39)	missense	possibly damaging	0.46
R7193:Abca16	UTSW	7	120,026,409 (GRCm39)	missense	probably damaging	1.00
R7308:Abca16	UTSW	7	120,022,993 (GRCm39)	missense	probably benign	0.01
R7449:Abca16	UTSW	7	120,035,131 (GRCm39)	missense	possibly damaging	0.95
R7571:Abca16	UTSW	7	120,119,211 (GRCm39)	missense	probably benign	0.11
R7617:Abca16	UTSW	7	120,102,694 (GRCm39)	nonsense	probably null
R7646:Abca16	UTSW	7	120,113,937 (GRCm39)	missense	probably benign	0.04
R7750:Abca16	UTSW	7	120,113,928 (GRCm39)	missense	probably benign	0.09
R7763:Abca16	UTSW	7	120,113,825 (GRCm39)	missense	probably damaging	1.00
R7840:Abca16	UTSW	7	120,074,689 (GRCm39)	missense	probably benign	0.00
R7946:Abca16	UTSW	7	120,126,398 (GRCm39)	missense	probably benign	0.01
R8018:Abca16	UTSW	7	120,132,866 (GRCm39)	missense	probably benign	0.04
R8170:Abca16	UTSW	7	120,065,005 (GRCm39)	missense	probably damaging	1.00
R8413:Abca16	UTSW	7	120,023,123 (GRCm39)	missense	probably benign	0.06
R8461:Abca16	UTSW	7	120,035,918 (GRCm39)	missense	possibly damaging	0.95
R8858:Abca16	UTSW	7	120,052,327 (GRCm39)	missense	probably benign
R8881:Abca16	UTSW	7	120,074,794 (GRCm39)	missense	probably benign	0.18
R9272:Abca16	UTSW	7	120,076,993 (GRCm39)	missense	probably benign	0.13
R9303:Abca16	UTSW	7	120,126,989 (GRCm39)	missense	probably benign	0.25
R9305:Abca16	UTSW	7	120,126,989 (GRCm39)	missense	probably benign	0.25
R9320:Abca16	UTSW	7	120,139,320 (GRCm39)	missense	probably damaging	0.98
R9413:Abca16	UTSW	7	120,126,422 (GRCm39)	missense	probably benign	0.01
R9512:Abca16	UTSW	7	120,022,963 (GRCm39)	missense	probably benign	0.01
R9559:Abca16	UTSW	7	120,021,019 (GRCm39)	critical splice donor site	probably null
R9615:Abca16	UTSW	7	120,126,404 (GRCm39)	missense	probably benign	0.01
R9641:Abca16	UTSW	7	120,126,308 (GRCm39)	missense	possibly damaging	0.52
R9643:Abca16	UTSW	7	120,065,023 (GRCm39)	missense	possibly damaging	0.96
R9674:Abca16	UTSW	7	120,074,668 (GRCm39)	critical splice acceptor site	probably null
R9714:Abca16	UTSW	7	120,030,383 (GRCm39)	missense	probably benign	0.01
R9799:Abca16	UTSW	7	120,132,998 (GRCm39)	missense	probably benign	0.00
R9800:Abca16	UTSW	7	120,119,283 (GRCm39)	missense	possibly damaging	0.68
RF020:Abca16	UTSW	7	120,132,880 (GRCm39)	missense	possibly damaging	0.90
X0066:Abca16	UTSW	7	120,102,609 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTAGAAAACTTAGCAAGCTTGCCAG -3'
(R):5'- AACACAATGGATCGCATGATG -3'

Sequencing Primer
(F):5'- CTGTGGTAGGTTCCATGTAT -3'
(R):5'- CACAATGGATCGCATGATGGAAAG -3'

Posted On

2014-06-30