Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4802001:Abca16'

556733

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4802001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120139351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1461 (D1461G)

Ref Sequence

ENSEMBL: ENSMUSP00000112736 (fasta)

Gene Model

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

AlphaFold

E9PWJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056042
AA Change: D1460G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: D1460G

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: D1461G

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: D1461G

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: 93.6%
3x: 91.0%
10x: 85.4%
20x: 73.7%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	T	11: 119,902,172 (GRCm39)	D741E	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
Akap5	T	C	12: 76,376,706 (GRCm39)	Y713H	probably damaging	Het
AW554918	A	G	18: 25,473,132 (GRCm39)	E312G	possibly damaging	Het
Car4	G	A	11: 84,855,231 (GRCm39)	A157T	probably damaging	Het
Chst9	A	T	18: 15,585,849 (GRCm39)	M238K	probably benign	Het
Ctbp2	G	A	7: 132,589,974 (GRCm39)	H397Y	possibly damaging	Het
Cyp3a59	A	G	5: 146,039,611 (GRCm39)	M295V	probably benign	Het
Daglb	T	C	5: 143,488,803 (GRCm39)	Y586H	probably benign	Het
Ehbp1l1	G	T	19: 5,769,603 (GRCm39)	P567T	possibly damaging	Het
Emilin2	A	G	17: 71,580,464 (GRCm39)	I754T	probably damaging	Het
Esyt2	G	A	12: 116,329,457 (GRCm39)	A672T	probably benign	Het
Evx1	G	T	6: 52,291,175 (GRCm39)	E116*	probably null	Het
Exph5	T	C	9: 53,286,278 (GRCm39)	S1120P	probably damaging	Het
Fam184a	A	T	10: 53,560,450 (GRCm39)	L515*	probably null	Het
Flt4	T	A	11: 49,523,996 (GRCm39)	D525E	probably benign	Het
Galt	T	C	4: 41,756,764 (GRCm39)	W135R	probably damaging	Het
Ifitm6	A	T	7: 140,596,648 (GRCm39)	C42S	probably damaging	Het
Ift172	A	G	5: 31,442,610 (GRCm39)	S186P	probably benign	Het
Kcnk3	A	G	5: 30,779,712 (GRCm39)	E254G	probably damaging	Het
Kmt2b	A	G	7: 30,278,996 (GRCm39)	S1509P	probably damaging	Het
Ky	T	A	9: 102,414,972 (GRCm39)	S295T	probably benign	Het
Lrba	T	A	3: 86,571,801 (GRCm39)	Y2368*	probably null	Het
Mtmr4	T	A	11: 87,501,953 (GRCm39)	V669E	probably benign	Het
Myh10	C	T	11: 68,655,918 (GRCm39)	R471C	probably damaging	Het
Nav1	G	A	1: 135,380,671 (GRCm39)	T1416I	unknown	Het
Nrip1	A	C	16: 76,090,157 (GRCm39)	S467A	probably damaging	Het
Ntrk1	T	A	3: 87,695,941 (GRCm39)	N190Y	probably damaging	Het
Or14a256	A	T	7: 86,265,763 (GRCm39)	L30Q	probably null	Het
Or5h25	A	C	16: 58,930,964 (GRCm39)	M3R	probably benign	Het
Pdxp	A	G	15: 78,802,611 (GRCm39)	S282G	probably damaging	Het
Phtf2	A	T	5: 21,006,904 (GRCm39)	S220T	probably damaging	Het
Piezo2	A	T	18: 63,157,540 (GRCm39)	V2390E	probably damaging	Het
Pop1	T	G	15: 34,529,229 (GRCm39)	L783R	probably benign	Het
Prf1	G	A	10: 61,135,972 (GRCm39)	A83T	probably benign	Het
Rab4b	A	G	7: 26,875,267 (GRCm39)	V50A	probably benign	Het
Rtn1	T	A	12: 72,351,100 (GRCm39)	T370S	probably benign	Het
Sdr16c5	T	A	4: 4,012,423 (GRCm39)	I123F	probably damaging	Het
Smg6	T	A	11: 75,046,991 (GRCm39)	V1228D	probably damaging	Het
Smim19	A	G	8: 22,963,539 (GRCm39)	V23A	probably benign	Het
Sox13	A	T	1: 133,313,996 (GRCm39)	I346N	probably damaging	Het
Tap1	T	A	17: 34,412,165 (GRCm39)	Y457N	probably damaging	Het
Tbck	C	T	3: 132,458,427 (GRCm39)	P686S	probably damaging	Het
Tcof1	A	G	18: 60,965,010 (GRCm39)	S570P	unknown	Het
Tmc5	A	T	7: 118,271,449 (GRCm39)	M921L	probably benign	Het
Ttc6	A	G	12: 57,772,462 (GRCm39)	Y1594C	possibly damaging	Het
Virma	T	A	4: 11,546,008 (GRCm39)	H1615Q	probably damaging	Het
Vmn1r19	T	A	6: 57,382,037 (GRCm39)	Y197N	probably damaging	Het
Vps13c	T	C	9: 67,845,068 (GRCm39)	F2051L	probably damaging	Het
Wdr6	C	T	9: 108,451,765 (GRCm39)	C706Y	probably damaging	Het
Zfand4	A	G	6: 116,261,736 (GRCm39)	N100D	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
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
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'- CATGCTGTACCACATCCCTATGAG -3'
(R):5'- CTGATGTCTGAGCTTGGCAG -3'

Sequencing Primer
(F):5'- GATTTATATTCTGTGGAAGAGCTGAC -3'
(R):5'- ACTGCCTCCATGTGCCAGAG -3'

Posted On

2019-06-07