Mutagenetix > Incidental Mutation

Incidental Mutation 'R7750:Abca16'

597153

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

045806-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120113928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 933 (N933I)

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: N932I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: N932I

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: N933I

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: N933I

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (56/56)

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,075,199 (GRCm39)	D816V	possibly damaging	Het
Acly	A	T	11: 100,368,839 (GRCm39)		probably null	Het
Acox1	C	T	11: 116,074,406 (GRCm39)	G105D	possibly damaging	Het
Ankrd24	A	G	10: 81,482,628 (GRCm39)	E939G	possibly damaging	Het
Bard1	T	A	1: 71,106,101 (GRCm39)		probably null	Het
Brd4	G	T	17: 32,432,521 (GRCm39)	N579K	unknown	Het
C1qc	T	C	4: 136,617,592 (GRCm39)	Y168C	probably damaging	Het
Casp6	A	G	3: 129,705,858 (GRCm39)	D175G	probably damaging	Het
Ccdc83	A	T	7: 89,873,190 (GRCm39)	Y388*	probably null	Het
Clasrp	A	T	7: 19,318,516 (GRCm39)	*628R	probably null	Het
Cox4i1	A	G	8: 121,400,049 (GRCm39)	I111V	probably benign	Het
Cpvl	T	A	6: 53,903,886 (GRCm39)	D293V	probably damaging	Het
Epb41l4b	C	T	4: 57,076,913 (GRCm39)		probably null	Het
Frem2	C	A	3: 53,431,103 (GRCm39)	L2743F	possibly damaging	Het
Frmd4a	A	T	2: 4,606,160 (GRCm39)	H628L	probably benign	Het
Fyb1	A	G	15: 6,690,184 (GRCm39)	D809G	probably damaging	Het
Gm19410	T	A	8: 36,274,652 (GRCm39)	M1491K	possibly damaging	Het
Gm3604	G	A	13: 62,517,810 (GRCm39)	H183Y	possibly damaging	Het
H1f7	A	G	15: 98,154,565 (GRCm39)	S195P	unknown	Het
Lama2	T	C	10: 26,866,920 (GRCm39)	Y2858C	probably damaging	Het
Methig1	T	C	15: 100,251,412 (GRCm39)	F108L	probably benign	Het
Mfsd4b5	A	G	10: 39,846,251 (GRCm39)	V443A	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Myh9	C	T	15: 77,667,610 (GRCm39)	V608I	probably benign	Het
Myo1g	T	C	11: 6,464,849 (GRCm39)	D475G	probably damaging	Het
Neb	A	C	2: 52,170,728 (GRCm39)		probably null	Het
Nlrp1b	T	A	11: 71,059,665 (GRCm39)	I769F	probably benign	Het
Nol8	G	T	13: 49,815,742 (GRCm39)	V617F	possibly damaging	Het
Or2d2b	A	T	7: 106,705,740 (GRCm39)	C109*	probably null	Het
Pik3r2	A	G	8: 71,223,545 (GRCm39)	F346S	probably damaging	Het
Pou3f3	T	A	1: 42,737,308 (GRCm39)	F335I	probably damaging	Het
Ppp1r3e	T	C	14: 55,114,084 (GRCm39)	D196G	probably damaging	Het
Prpf40a	T	C	2: 53,041,757 (GRCm39)	T545A	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rprd1a	T	A	18: 24,641,311 (GRCm39)	K102*	probably null	Het
Sim1	A	G	10: 50,772,131 (GRCm39)	T47A	possibly damaging	Het
Slc45a1	C	T	4: 150,728,498 (GRCm39)	A102T	probably damaging	Het
Slc6a11	C	T	6: 114,207,098 (GRCm39)	P361S	possibly damaging	Het
Slc9b2	T	C	3: 135,031,998 (GRCm39)	F286S	probably damaging	Het
Slco4a1	T	C	2: 180,113,030 (GRCm39)	S421P	probably benign	Het
Snap91	A	C	9: 86,680,762 (GRCm39)		probably null	Het
Sppl2a	A	G	2: 126,761,625 (GRCm39)	L293P	probably damaging	Het
Sval3	T	A	6: 41,949,360 (GRCm39)	I66K	possibly damaging	Het
Synj2bp	T	C	12: 81,551,311 (GRCm39)	I85V	probably benign	Het
Thop1	G	T	10: 80,916,025 (GRCm39)	A403S	probably benign	Het
Timd4	T	A	11: 46,706,354 (GRCm39)	M52K	probably damaging	Het
Tmco5b	A	G	2: 113,118,609 (GRCm39)	N111D	probably damaging	Het
Trip10	G	A	17: 57,568,667 (GRCm39)	V419I	possibly damaging	Het
Trpv3	T	C	11: 73,176,847 (GRCm39)	Y409H	probably damaging	Het
Tulp4	A	G	17: 6,283,399 (GRCm39)	T1143A	probably damaging	Het
Ugt2b5	A	T	5: 87,288,108 (GRCm39)	S20T	probably benign	Het
Unc5b	A	G	10: 60,610,823 (GRCm39)	F406L	probably benign	Het
Usf3	A	G	16: 44,040,884 (GRCm39)	E1788G	probably benign	Het
Usp45	A	G	4: 21,780,430 (GRCm39)	D27G	probably damaging	Het
Vmn2r100	G	A	17: 19,742,726 (GRCm39)	V367I	probably benign	Het
Vmn2r49	T	A	7: 9,710,185 (GRCm39)	K849I	probably damaging	Het
Zfp119b	A	T	17: 56,245,682 (GRCm39)	H501Q	probably damaging	Het
Zfp462	C	A	4: 55,016,958 (GRCm39)	H893N	probably benign	Het
Zkscan4	A	G	13: 21,663,525 (GRCm39)	E88G	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
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
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
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'- TAGGTTCCACTTTACCGCCAG -3'
(R):5'- CTAAGATACTGGTAACTGGTGGGATG -3'

Sequencing Primer
(F):5'- ACCGCCAGCAATTCTATTCC -3'
(R):5'- CCATTGCAAGTGATAAGTAGGTC -3'

Posted On

2019-11-26