Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Abca16'

548124

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

045156-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120020971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 5 (T5A)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: T5A

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

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: T5A

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 benign
Transcript: ENSMUST00000120490
AA Change: T5A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: T5A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (54/55)

Allele List at MGI

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

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,509 (GRCm39)		probably benign	Het
Abraxas1	T	C	5: 100,954,103 (GRCm39)	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,468,295 (GRCm39)	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,492,127 (GRCm39)	T125S	probably benign	Het
Asah1	A	T	8: 41,800,106 (GRCm39)	N169K	probably damaging	Het
Atl3	A	G	19: 7,511,333 (GRCm39)	N515D	probably benign	Het
Atl3	A	C	19: 7,511,334 (GRCm39)	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,339,005 (GRCm39)	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,081,813 (GRCm39)	I134K	probably damaging	Het
Brd10	T	A	19: 29,696,945 (GRCm39)	E849D	probably benign	Het
Btbd10	C	T	7: 112,929,129 (GRCm39)	R159H	probably damaging	Het
Chmp6	T	C	11: 119,806,866 (GRCm39)	F7L	probably damaging	Het
Colq	C	A	14: 31,247,991 (GRCm39)	C409F	probably damaging	Het
Cpox	T	A	16: 58,491,290 (GRCm39)	V167E	probably damaging	Het
Cul3	T	C	1: 80,254,141 (GRCm39)	Y545C	probably benign	Het
Dqx1	C	T	6: 83,041,790 (GRCm39)	A544V	probably benign	Het
Dzip3	A	G	16: 48,801,305 (GRCm39)	I73T	probably benign	Het
Epha3	T	A	16: 63,388,818 (GRCm39)	Y810F	probably damaging	Het
Esp36	A	T	17: 38,727,942 (GRCm39)	I113N	unknown	Het
Fbxw17	T	A	13: 50,586,584 (GRCm39)	W429R	probably damaging	Het
Fcrl2	A	T	3: 87,164,647 (GRCm39)	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,118,975 (GRCm39)	L148H	probably benign	Het
Gpr39	C	A	1: 125,605,696 (GRCm39)	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,935,017 (GRCm39)	E1662G	probably damaging	Het
Hgfac	T	A	5: 35,201,773 (GRCm39)	L302Q	possibly damaging	Het
Itih1	G	A	14: 30,653,266 (GRCm39)	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,524,075 (GRCm39)	I372V	probably benign	Het
Kcnk1	T	A	8: 126,756,466 (GRCm39)	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,981 (GRCm39)	I115F	probably damaging	Het
Kif1a	C	T	1: 92,974,551 (GRCm39)		probably benign	Het
Lcn2	T	A	2: 32,277,608 (GRCm39)	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,166,355 (GRCm39)	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,909,312 (GRCm39)	I55V	probably benign	Het
Mapk9	T	C	11: 49,757,874 (GRCm39)		probably null	Het
Mrpl18	A	G	17: 13,132,668 (GRCm39)	S154P	possibly damaging	Het
Mst1	C	A	9: 107,961,263 (GRCm39)	H524Q	probably benign	Het
Mtpap	T	C	18: 4,396,202 (GRCm39)	L498P	probably damaging	Het
Myl3	C	T	9: 110,571,105 (GRCm39)		probably benign	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Mzf1	G	T	7: 12,786,985 (GRCm39)	S28R	probably damaging	Het
Olfm1	T	C	2: 28,112,628 (GRCm39)	S205P	probably damaging	Het
Or52e8	A	T	7: 104,625,224 (GRCm39)		probably null	Het
Prrc2a	G	A	17: 35,376,364 (GRCm39)	P809S	probably damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rbm48	A	T	5: 3,640,625 (GRCm39)	C251*	probably null	Het
Rxfp1	A	T	3: 79,559,576 (GRCm39)	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,183,257 (GRCm39)	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,000,090 (GRCm39)	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc38a4	G	T	15: 96,906,895 (GRCm39)	S281*	probably null	Het
Syne1	A	T	10: 5,296,859 (GRCm39)	S1201T	probably damaging	Het
Tex15	C	A	8: 34,064,758 (GRCm39)	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,764,641 (GRCm39)		probably null	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
R1876:Abca16	UTSW	7	120,032,608 (GRCm39)	missense	probably damaging	1.00
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
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'- AGAAGAGGCCTGCGTCTATG -3'
(R):5'- TCACTCTACAGTATGGACTCATTGG -3'

Sequencing Primer
(F):5'- CTGCGTCTATGGCTGGATCATTAAC -3'
(R):5'- CAGTATGGACTCATTGGCTTTTATAC -3'

Posted On

2019-05-13