Mutagenetix > Incidental Mutation

Incidental Mutation 'R1567:Abca16'

175348

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A member 16

Synonyms

MMRRC Submission

039606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1567 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120008870-120144036 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120030352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 155 (V155I)

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: V155I

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: V155I

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: V155I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: V155I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144122

SMART Domains

Protein: ENSMUSP00000114975
Gene: ENSMUSG00000051900

Domain	Start	End	E-Value	Type
Pfam:ABC2_membrane_3	2	133	1e-16	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.8%
20x: 91.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,751,371 (GRCm39)	Q255R	possibly damaging	Het
Adar	A	T	3: 89,643,088 (GRCm39)	H323L	probably benign	Het
Adgrg5	T	A	8: 95,664,326 (GRCm39)	V312E	probably damaging	Het
Anapc1	T	C	2: 128,459,636 (GRCm39)	T1808A	probably damaging	Het
Aox3	C	A	1: 58,233,852 (GRCm39)	A1285E	probably damaging	Het
Arhgap40	T	A	2: 158,388,719 (GRCm39)	L551Q	probably damaging	Het
Blk	A	G	14: 63,618,178 (GRCm39)	S243P	probably damaging	Het
Cfap206	G	T	4: 34,716,490 (GRCm39)	A325E	probably benign	Het
Cimap1b	C	A	15: 89,261,981 (GRCm39)	R137L	probably benign	Het
Cnn3	A	T	3: 121,243,607 (GRCm39)	K23*	probably null	Het
Cog8	G	A	8: 107,780,740 (GRCm39)	R173*	probably null	Het
Col11a1	G	A	3: 113,932,261 (GRCm39)	R880H	unknown	Het
Cyp2c40	T	C	19: 39,792,215 (GRCm39)	Q243R	probably null	Het
Dcbld1	A	G	10: 52,195,752 (GRCm39)	E391G	probably damaging	Het
Dchs1	C	A	7: 105,421,068 (GRCm39)	A451S	probably benign	Het
Ddx43	A	G	9: 78,323,991 (GRCm39)	K441E	probably damaging	Het
Depdc1a	A	T	3: 159,228,177 (GRCm39)	I310F	possibly damaging	Het
Dnah17	C	T	11: 118,016,811 (GRCm39)	V247M	probably damaging	Het
Dtd1	G	T	2: 144,588,945 (GRCm39)	G201V	probably damaging	Het
Eif1ad3	A	T	12: 87,843,754 (GRCm39)	I134F	unknown	Het
Enoph1	G	A	5: 100,208,884 (GRCm39)	G80S	probably benign	Het
Fam76a	A	T	4: 132,645,039 (GRCm39)	Y48*	probably null	Het
Fut9	T	G	4: 25,620,344 (GRCm39)	T157P	probably damaging	Het
Gm57859	T	A	11: 113,578,728 (GRCm39)	V41D	probably damaging	Het
Gtpbp1	T	C	15: 79,596,391 (GRCm39)	I310T	probably damaging	Het
Hk3	T	A	13: 55,154,418 (GRCm39)	I753F	probably damaging	Het
Hnrnpl	G	T	7: 28,519,608 (GRCm39)	A419S	possibly damaging	Het
Ighv5-6	T	C	12: 113,589,528 (GRCm39)		probably benign	Het
Itpkb	A	G	1: 180,249,423 (GRCm39)	T933A	probably benign	Het
Kcnn2	T	G	18: 45,803,401 (GRCm39)		probably null	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lmcd1	C	T	6: 112,287,526 (GRCm39)	R71C	probably damaging	Het
Mrgprb1	A	T	7: 48,097,201 (GRCm39)	V237E	probably damaging	Het
Mybl1	T	A	1: 9,755,976 (GRCm39)	E191V	probably damaging	Het
Nbas	T	A	12: 13,335,279 (GRCm39)	F158I	possibly damaging	Het
Nbr1	C	G	11: 101,466,037 (GRCm39)	L748V	probably damaging	Het
Nlrp10	G	A	7: 108,526,257 (GRCm39)	T27M	probably benign	Het
Notch3	G	A	17: 32,377,554 (GRCm39)	T174I	possibly damaging	Het
Nup85	T	A	11: 115,459,224 (GRCm39)	I109K	possibly damaging	Het
Or10h28	A	G	17: 33,488,450 (GRCm39)	I251V	probably benign	Het
Or2b28	A	T	13: 21,531,595 (GRCm39)	I166L	probably benign	Het
Or2n1e	A	G	17: 38,586,459 (GRCm39)	I266V	possibly damaging	Het
Or4c12b	T	C	2: 89,647,528 (GRCm39)	L280P	probably damaging	Het
Or4k48	G	T	2: 111,476,271 (GRCm39)	Q24K	possibly damaging	Het
Or5b105	T	C	19: 13,080,006 (GRCm39)	T221A	probably benign	Het
Phf2	T	C	13: 48,985,589 (GRCm39)	K64E	unknown	Het
Polr2a	T	C	11: 69,636,857 (GRCm39)	T365A	probably benign	Het
Prkcd	A	G	14: 30,329,405 (GRCm39)	C12R	probably benign	Het
Ptprq	T	C	10: 107,401,748 (GRCm39)	I1915V	probably benign	Het
Rcbtb2	G	A	14: 73,399,902 (GRCm39)	V112I	probably benign	Het
Rxfp3	A	G	15: 11,036,187 (GRCm39)	V395A	probably benign	Het
Ryr2	C	A	13: 11,774,563 (GRCm39)	G1198C	possibly damaging	Het
Scn1a	T	A	2: 66,103,675 (GRCm39)	I1851F	probably damaging	Het
Selenop	A	G	15: 3,309,180 (GRCm39)	*377W	probably null	Het
Sema4a	A	T	3: 88,359,353 (GRCm39)	C113S	probably damaging	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Speg	T	C	1: 75,404,691 (GRCm39)	S2575P	probably benign	Het
Stk24	T	A	14: 121,545,468 (GRCm39)	I97L	probably benign	Het
Tap2	A	G	17: 34,433,065 (GRCm39)	K449R	probably benign	Het
Tecpr2	T	A	12: 110,908,030 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,727,955 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,246,505 (GRCm39)	F1204L	possibly damaging	Het
Ugt2b36	T	C	5: 87,240,258 (GRCm39)	I42M	probably damaging	Het
Zdhhc8	A	G	16: 18,044,984 (GRCm39)	L274P	probably benign	Het
Zfp974	C	A	7: 27,610,148 (GRCm39)	D526Y	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
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'- TGCTCACTGTGCATTCTAGGCATTC -3'
(R):5'- AATAAAGACTCTCCTGTGCTTGCCC -3'

Sequencing Primer
(F):5'- AGGCATTCAGAATTTATCAGATTGG -3'
(R):5'- GTCTCGAAATCCGGGCATAAC -3'

Posted On

2014-04-24