Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Abca16'

395445

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120139846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1503 (S1503P)

Ref Sequence

ENSEMBL: ENSMUSP00000061094 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

probably benign
Transcript: ENSMUST00000056042
AA Change: S1503P

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: S1503P

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: S1504P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: S1504P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

Allele List at MGI

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

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn3	C	A	19: 4,913,572 (GRCm39)	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,223,752 (GRCm39)	K252E	probably benign	Het
Adgrg1	A	G	8: 95,736,373 (GRCm39)	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,536,875 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,973,886 (GRCm39)	E2476G	probably benign	Het
Capn3	T	C	2: 120,331,811 (GRCm39)		probably benign	Het
Catsperz	T	C	19: 6,900,705 (GRCm39)	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,483,283 (GRCm39)	A289E	probably benign	Het
Ccdc170	A	C	10: 4,511,107 (GRCm39)	H722P	probably damaging	Het
Cdk13	C	A	13: 17,893,110 (GRCm39)	A1358S	probably benign	Het
Cntn6	T	A	6: 104,546,074 (GRCm39)		probably benign	Het
Coch	A	G	12: 51,642,225 (GRCm39)	N66D	probably benign	Het
Col12a1	A	G	9: 79,564,030 (GRCm39)	S1732P	probably damaging	Het
Copa	T	A	1: 171,945,628 (GRCm39)	V917E	probably benign	Het
Csmd2	C	A	4: 128,445,828 (GRCm39)	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,627,132 (GRCm39)	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434 (GRCm39)	H126L	probably damaging	Het
Ddx46	T	C	13: 55,806,843 (GRCm39)	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Enpp5	C	T	17: 44,392,024 (GRCm39)	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,397,327 (GRCm39)		probably benign	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Flg2	C	A	3: 93,122,284 (GRCm39)	P1485T	unknown	Het
Fmo5	A	G	3: 97,549,078 (GRCm39)	Y242C	probably benign	Het
Fsip2	C	A	2: 82,808,916 (GRCm39)	T1745N	probably benign	Het
Gata4	T	A	14: 63,478,570 (GRCm39)	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm4787	A	C	12: 81,425,451 (GRCm39)	S236A	probably benign	Het
Golga7	A	C	8: 23,735,965 (GRCm39)	S94A	probably benign	Het
Gpbp1	A	G	13: 111,589,815 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,955,619 (GRCm39)	Y222H	probably benign	Het
Gstcd	A	G	3: 132,790,717 (GRCm39)	Y17H	possibly damaging	Het
Hephl1	C	A	9: 14,991,481 (GRCm39)	D586Y	probably damaging	Het
Hpn	C	A	7: 30,799,261 (GRCm39)	V35L	probably damaging	Het
Il23r	T	A	6: 67,400,725 (GRCm39)	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,397,616 (GRCm39)	I45T	possibly damaging	Het
Itgae	G	C	11: 73,021,821 (GRCm39)	G901R	probably damaging	Het
Kif28	T	C	1: 179,530,103 (GRCm39)	D686G	probably damaging	Het
Kit	A	G	5: 75,781,507 (GRCm39)	E312G	probably benign	Het
Lamb2	C	A	9: 108,364,937 (GRCm39)	S1230R	probably benign	Het
Lars1	A	T	18: 42,361,842 (GRCm39)	D588E	possibly damaging	Het
Lgr4	T	A	2: 109,830,948 (GRCm39)	F292I	probably damaging	Het
Lmf1	C	T	17: 25,874,493 (GRCm39)	S458L	probably damaging	Het
Lpin2	T	A	17: 71,552,154 (GRCm39)	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,365,676 (GRCm39)	I138L	probably benign	Het
Mterf1a	A	T	5: 3,940,984 (GRCm39)	F295I	probably damaging	Het
Muc4	A	T	16: 32,577,432 (GRCm39)	K241*	probably null	Het
Muc5b	T	C	7: 141,419,268 (GRCm39)	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,440,384 (GRCm39)		probably benign	Het
Or10d5j	T	C	9: 39,868,202 (GRCm39)	T22A	probably benign	Het
Or4x6	A	G	2: 89,949,465 (GRCm39)	L159P	probably damaging	Het
Or8g21	A	T	9: 38,906,473 (GRCm39)	V86E	possibly damaging	Het
Osgep	T	C	14: 51,155,315 (GRCm39)	D81G	probably damaging	Het
Otos	A	G	1: 92,572,116 (GRCm39)	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,429,179 (GRCm39)	V384D	probably damaging	Het
Ppp1r10	C	T	17: 36,240,144 (GRCm39)	P514S	probably damaging	Het
Pramel14	G	A	4: 143,720,830 (GRCm39)	P37L	probably damaging	Het
Prdm16	A	G	4: 154,430,559 (GRCm39)	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,661,962 (GRCm39)	D382E	probably damaging	Het
Reln	A	G	5: 22,153,627 (GRCm39)	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,657,765 (GRCm39)	T125M	probably damaging	Het
Setd1a	C	T	7: 127,383,197 (GRCm39)	T231I	probably benign	Het
Sftpa1	G	A	14: 40,856,309 (GRCm39)	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,786,138 (GRCm39)	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,585,861 (GRCm39)	I319V	possibly damaging	Het
Sp140l2	G	A	1: 85,239,581 (GRCm39)	P19S	probably benign	Het
Spata31d1c	C	T	13: 65,183,409 (GRCm39)	T317I	probably damaging	Het
Speg	C	T	1: 75,404,742 (GRCm39)	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,029,550 (GRCm39)		probably null	Het
Tdpoz9	T	C	3: 93,957,451 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,013,191 (GRCm39)	S644T	probably damaging	Het
Tmem182	T	A	1: 40,877,460 (GRCm39)	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815 (GRCm39)	N522K	probably benign	Het
Vnn3	A	T	10: 23,740,237 (GRCm39)	Y180F	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,846,118 (GRCm39)	D57V	probably benign	Het
Zfp831	T	C	2: 174,486,357 (GRCm39)	V344A	probably benign	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
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'- CCCATTTGCAACTTGGATGG -3'
(R):5'- TACTGACTCAGTCCTGGCAG -3'

Sequencing Primer
(F):5'- CAACTTGGATGGGGGTTAACC -3'
(R):5'- GTCCTGGCAGAAATTAATTTCATCC -3'

Posted On

2016-06-21