Mutagenetix > Incidental Mutation

Incidental Mutation 'R6885:Abca16'

536790

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

045031-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6885 (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 120119332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1025 (I1025M)

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: I1024M

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I1024M

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: I1025M

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I1025M

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (58/59)

Allele List at MGI

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

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	A	10: 80,179,465 (GRCm39)	T164S	probably benign	Het
Ankar	C	T	1: 72,682,195 (GRCm39)	A1239T	unknown	Het
Aox4	A	T	1: 58,303,537 (GRCm39)	S1192C	probably damaging	Het
Atl2	T	C	17: 80,159,982 (GRCm39)	D68G	probably damaging	Het
Btnl4	T	C	17: 34,691,919 (GRCm39)	I228V	probably benign	Het
Catsper4	T	C	4: 133,942,460 (GRCm39)	T231A	probably benign	Het
Ccl12	A	T	11: 81,993,523 (GRCm39)	T54S	probably damaging	Het
Cntn1	T	C	15: 92,140,980 (GRCm39)		probably null	Het
Cog5	T	A	12: 31,944,198 (GRCm39)	D694E	probably damaging	Het
Crat	T	A	2: 30,305,208 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,023,635 (GRCm39)	T418A	probably benign	Het
Cubn	G	A	2: 13,323,089 (GRCm39)	P2826L	probably damaging	Het
Dnah17	A	G	11: 117,981,598 (GRCm39)	F1698L	possibly damaging	Het
Dock8	T	A	19: 25,124,742 (GRCm39)	D1019E	possibly damaging	Het
Eps15	A	G	4: 109,166,361 (GRCm39)	N85D	probably damaging	Het
Exoc1	T	C	5: 76,706,889 (GRCm39)	S457P	probably damaging	Het
Ext1	G	A	15: 52,965,088 (GRCm39)	T426I	probably damaging	Het
Fat1	T	C	8: 45,405,489 (GRCm39)	S747P	possibly damaging	Het
Gas7	A	G	11: 67,574,213 (GRCm39)	D396G	probably damaging	Het
Gm5114	G	T	7: 39,057,580 (GRCm39)	R680S	probably benign	Het
Gpcpd1	A	T	2: 132,395,994 (GRCm39)	L94M	possibly damaging	Het
Gse1	C	A	8: 120,956,221 (GRCm39)		probably benign	Het
Hmgb1	T	C	5: 148,987,471 (GRCm39)	E26G	probably benign	Het
Incenp	C	T	19: 9,852,496 (GRCm39)	R714Q	unknown	Het
Krt73	T	C	15: 101,704,833 (GRCm39)	E351G	probably damaging	Het
Ksr1	A	G	11: 78,938,121 (GRCm39)		probably null	Het
Lpin2	T	G	17: 71,522,145 (GRCm39)	S60A	probably damaging	Het
Lrrc71	T	C	3: 87,649,927 (GRCm39)		probably null	Het
Mafb	A	G	2: 160,207,939 (GRCm39)	S220P	possibly damaging	Het
Maml3	TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC	3: 51,605,000 (GRCm39)			Het
Mcmbp	T	C	7: 128,326,833 (GRCm39)		probably null	Het
Or1e30	A	T	11: 73,677,926 (GRCm39)	H54L	possibly damaging	Het
Or4s2	A	G	2: 88,473,941 (GRCm39)	T277A	probably damaging	Het
Paqr9	T	C	9: 95,442,096 (GRCm39)	S29P	probably benign	Het
Parm1	A	G	5: 91,742,069 (GRCm39)	T146A	possibly damaging	Het
Pgm2	T	A	5: 64,261,221 (GRCm39)	F238L	probably benign	Het
Pigv	A	T	4: 133,392,792 (GRCm39)	F126Y	probably damaging	Het
Pitx2	T	C	3: 129,012,257 (GRCm39)	M222T	probably damaging	Het
Plekhg6	T	C	6: 125,355,693 (GRCm39)	N37S	probably benign	Het
Pramel25	T	C	4: 143,520,103 (GRCm39)	C116R	probably damaging	Het
Psme4	A	T	11: 30,784,307 (GRCm39)	K961*	probably null	Het
Rbpj	T	C	5: 53,810,493 (GRCm39)	W392R	probably damaging	Het
Reg3a	T	A	6: 78,358,038 (GRCm39)		probably null	Het
Rfc3	C	T	5: 151,571,749 (GRCm39)	S85N	probably benign	Het
Rtn3	T	C	19: 7,435,696 (GRCm39)	T80A	probably benign	Het
Sash1	T	C	10: 8,659,985 (GRCm39)	T195A	probably damaging	Het
Ska1	A	G	18: 74,339,910 (GRCm39)	V12A	probably benign	Het
Slc25a1	A	G	16: 17,745,294 (GRCm39)	V80A	probably benign	Het
Slc26a5	A	T	5: 22,039,342 (GRCm39)	V217D	probably damaging	Het
Slc46a1	A	G	11: 78,357,805 (GRCm39)	D286G	probably benign	Het
Spata2l	A	T	8: 123,962,297 (GRCm39)	L88Q	probably damaging	Het
Sptbn1	T	G	11: 30,088,634 (GRCm39)	Q876P	probably benign	Het
Tenm2	T	A	11: 35,914,407 (GRCm39)	I2377F	possibly damaging	Het
Thbs4	A	T	13: 92,899,377 (GRCm39)	D539E	probably damaging	Het
Tmem154	T	A	3: 84,599,813 (GRCm39)	C162S	possibly damaging	Het
Tpcn1	T	C	5: 120,682,502 (GRCm39)	E502G	probably benign	Het
Traf7	G	A	17: 24,731,266 (GRCm39)	R257C	probably benign	Het
Tsc22d2	T	C	3: 58,323,629 (GRCm39)	Y174H	probably damaging	Het
Usp8	A	G	2: 126,594,230 (GRCm39)	E802G	probably damaging	Het
Vmn1r5	T	C	6: 56,963,042 (GRCm39)	V239A	possibly damaging	Het
Vmn2r99	T	A	17: 19,600,457 (GRCm39)	S494T	possibly damaging	Het
Zbtb38	A	G	9: 96,568,517 (GRCm39)	F856L	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
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'- TACATGTTGGCTCACTGGC -3'
(R):5'- TGCAATCCATTTACAGGCCTATAG -3'

Sequencing Primer
(F):5'- GATTGTCACACCTTCTGC -3'
(R):5'- TCCATTTACAGGCCTATAGAAGAAG -3'

Posted On

2018-10-18