Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Abca16'

540543

Institutional Source

Beutler Lab

Gene Symbol

Abca16

Ensembl Gene

ENSMUSG00000051900

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 16

Synonyms

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_001278943.1, NM_001278944.1; MGI:2388711

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120409647-120544813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120541147 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1557 (I1557F)

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: I1556F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061094
Gene: ENSMUSG00000051900
AA Change: I1556F

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 damaging
Transcript: ENSMUST00000120490
AA Change: I1557F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112736
Gene: ENSMUSG00000051900
AA Change: I1557F

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: 99.1%
20x: 97.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,649,357	D176E	probably damaging	Het
Acta2	A	T	19: 34,252,522	V11E	probably damaging	Het
Ampd2	T	C	3: 108,079,293	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,625,455	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,673,678	T83M	possibly damaging	Het
AU018091	A	G	7: 3,159,427		probably null	Het
Birc2	A	G	9: 7,819,468	V481A	probably benign	Het
C130060K24Rik	G	A	6: 65,447,401	M126I	probably damaging	Het
Cabp1	A	T	5: 115,172,901	D295E	probably damaging	Het
Cd180	A	T	13: 102,706,191	T582S	probably benign	Het
Cnksr3	A	G	10: 7,126,758	S145P	probably damaging	Het
Ddx27	A	G	2: 167,015,377	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,097,189	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,267,923	T161I	probably damaging	Het
Epm2a	A	G	10: 11,391,085		probably null	Het
Fat2	T	C	11: 55,262,088	H3766R	probably benign	Het
Fjx1	A	G	2: 102,450,558	V344A	probably benign	Het
Frmd3	A	G	4: 74,098,126	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,433,556		probably benign	Het
Gdf15	A	G	8: 70,630,144	L104P	possibly damaging	Het
Glra3	G	A	8: 55,940,926	R24Q	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,583,828	M31K	probably benign	Het
Ipmk	G	A	10: 71,348,090	G47S	probably null	Het
Itsn2	T	C	12: 4,629,641	I150T	probably benign	Het
Kcnq5	T	C	1: 21,405,844	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,952,789	H48Q	possibly damaging	Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,624,820	Y376C	probably benign	Het
Mast4	A	T	13: 102,804,714	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,487,505	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,609,511	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,502,638	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,686,296		probably benign	Het
Olfr1451	T	A	19: 12,999,497	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,416,074	Y438C	probably damaging	Het
Pigr	G	T	1: 130,847,327	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,416,883	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,696,148	K5M	probably damaging	Het
Psat1	A	T	19: 15,920,943	S35R	probably damaging	Het
Rab11fip1	G	A	8: 27,156,275	Q258*	probably null	Het
Rad51d	A	G	11: 82,889,797	L53P	probably damaging	Het
Rell2	G	A	18: 37,958,288	A169T	probably benign	Het
Rnf19b	T	C	4: 129,082,779	I545T	probably benign	Het
Slc12a1	G	T	2: 125,214,079	E843D	possibly damaging	Het
Slc1a4	A	G	11: 20,304,346	S507P	probably damaging	Het
Slc6a1	G	A	6: 114,313,512	W316*	probably null	Het
Spesp1	A	G	9: 62,272,870	L252P	probably damaging	Het
Sphkap	G	A	1: 83,408,090		probably benign	Het
Srcap	A	G	7: 127,542,597	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,430,586	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,403,865	T86A	possibly damaging	Het
Tenm3	T	C	8: 48,674,416	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,446,777	A419S	probably damaging	Het
Usp54	T	G	14: 20,562,109	I880L	probably benign	Het
Wwp2	T	A	8: 107,548,502	V377D	probably damaging	Het
Zfp735	A	T	11: 73,690,333	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491	E134G	probably benign	Het

Other mutations in Abca16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Abca16	APN	7	120423759	missense	probably benign	0.08
IGL00590:Abca16	APN	7	120423815	missense	probably damaging	1.00
IGL01320:Abca16	APN	7	120439199	missense	probably damaging	1.00
IGL01322:Abca16	APN	7	120439199	missense	probably damaging	1.00
IGL01613:Abca16	APN	7	120541277	missense	probably benign	0.03
IGL01774:Abca16	APN	7	120477835	missense	probably damaging	1.00
IGL01774:Abca16	APN	7	120421801	splice site	probably benign
IGL01797:Abca16	APN	7	120514537	missense	probably benign	0.15
IGL02406:Abca16	APN	7	120540602	missense	probably damaging	1.00
IGL02437:Abca16	APN	7	120533729	missense	probably benign	0.00
IGL02541:Abca16	APN	7	120514658	missense	possibly damaging	0.91
IGL02576:Abca16	APN	7	120433455	missense	probably benign	0.05
IGL02578:Abca16	APN	7	120423956	critical splice donor site	probably null
IGL03156:Abca16	APN	7	120423851	missense	possibly damaging	0.69
IGL03381:Abca16	APN	7	120527818	missense	probably benign	0.12
PIT4802001:Abca16	UTSW	7	120540128	missense	probably benign	0.31
R0024:Abca16	UTSW	7	120433385	missense	probably damaging	1.00
R0026:Abca16	UTSW	7	120477923	splice site	probably benign
R0026:Abca16	UTSW	7	120477923	splice site	probably benign
R0123:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0134:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0225:Abca16	UTSW	7	120540155	missense	probably damaging	1.00
R0346:Abca16	UTSW	7	120435932	missense	probably damaging	1.00
R0355:Abca16	UTSW	7	120423798	missense	possibly damaging	0.68
R0358:Abca16	UTSW	7	120544716	missense	probably benign	0.01
R0525:Abca16	UTSW	7	120465810	nonsense	probably null
R0617:Abca16	UTSW	7	120433611	splice site	probably benign
R0625:Abca16	UTSW	7	120435893	missense	probably damaging	1.00
R0835:Abca16	UTSW	7	120465784	missense	probably benign	0.42
R1445:Abca16	UTSW	7	120520033	missense	probably benign	0.41
R1535:Abca16	UTSW	7	120540705	missense	probably benign	0.30
R1567:Abca16	UTSW	7	120431129	missense	probably benign	0.08
R1694:Abca16	UTSW	7	120520084	missense	probably damaging	1.00
R1860:Abca16	UTSW	7	120534763	missense	probably benign	0.02
R1876:Abca16	UTSW	7	120433385	missense	probably damaging	1.00
R1913:Abca16	UTSW	7	120541240	missense	probably benign	0.04
R1940:Abca16	UTSW	7	120433609	splice site	probably benign
R2042:Abca16	UTSW	7	120544718	missense	probably benign
R2115:Abca16	UTSW	7	120540645	missense	probably damaging	1.00
R2122:Abca16	UTSW	7	120519961	missense	probably damaging	1.00
R2265:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2267:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2269:Abca16	UTSW	7	120431160	missense	probably benign	0.03
R2993:Abca16	UTSW	7	120535161	missense	probably damaging	1.00
R3055:Abca16	UTSW	7	120435851	missense	probably benign	0.05
R3956:Abca16	UTSW	7	120527752	missense	probably damaging	0.96
R4114:Abca16	UTSW	7	120527067	missense	probably benign	0.06
R4441:Abca16	UTSW	7	120527801	missense	probably benign	0.04
R4601:Abca16	UTSW	7	120436697	missense	probably damaging	0.98
R4706:Abca16	UTSW	7	120465765	missense	probably damaging	1.00
R4807:Abca16	UTSW	7	120540609	missense	probably damaging	1.00
R4824:Abca16	UTSW	7	120475479	missense	possibly damaging	0.86
R4937:Abca16	UTSW	7	120527086	missense	probably damaging	0.98
R5152:Abca16	UTSW	7	120540623	missense	probably benign	0.02
R5257:Abca16	UTSW	7	120436769	critical splice donor site	probably null
R5258:Abca16	UTSW	7	120436769	critical splice donor site	probably null
R5330:Abca16	UTSW	7	120503377	missense	probably benign	0.15
R5388:Abca16	UTSW	7	120540746	critical splice donor site	probably null
R5590:Abca16	UTSW	7	120544772	missense	probably damaging	0.98
R5810:Abca16	UTSW	7	120435932	missense	probably damaging	1.00
R6030:Abca16	UTSW	7	120533798	missense	probably benign
R6030:Abca16	UTSW	7	120533798	missense	probably benign
R6161:Abca16	UTSW	7	120540711	missense	probably damaging	1.00
R6313:Abca16	UTSW	7	120527121	missense	probably damaging	1.00
R6485:Abca16	UTSW	7	120427167	nonsense	probably null
R6527:Abca16	UTSW	7	120477772	missense	possibly damaging	0.95
R6772:Abca16	UTSW	7	120527053	missense	probably damaging	1.00
R6885:Abca16	UTSW	7	120520109	missense	probably benign	0.07
R6899:Abca16	UTSW	7	120527041	missense	probably damaging	1.00
R6990:Abca16	UTSW	7	120527727	missense	probably benign	0.00
R7059:Abca16	UTSW	7	120421748	missense	probably benign	0.00
R7144:Abca16	UTSW	7	120433573	missense	possibly damaging	0.89
R7146:Abca16	UTSW	7	120527751	missense	possibly damaging	0.46
R7193:Abca16	UTSW	7	120427186	missense	probably damaging	1.00
R7308:Abca16	UTSW	7	120423770	missense	probably benign	0.01
R7449:Abca16	UTSW	7	120435908	missense	possibly damaging	0.95
R7571:Abca16	UTSW	7	120519988	missense	probably benign	0.11
R7617:Abca16	UTSW	7	120503471	nonsense	probably null
R7646:Abca16	UTSW	7	120514714	missense	probably benign	0.04
R7750:Abca16	UTSW	7	120514705	missense	probably benign	0.09
R7763:Abca16	UTSW	7	120514602	missense	probably damaging	1.00
R7840:Abca16	UTSW	7	120475466	missense	probably benign	0.00
R7946:Abca16	UTSW	7	120527175	missense	probably benign	0.01
R8018:Abca16	UTSW	7	120533643	missense	probably benign	0.04
R8170:Abca16	UTSW	7	120465782	missense	probably damaging	1.00
R8413:Abca16	UTSW	7	120423900	missense	probably benign	0.06
R8461:Abca16	UTSW	7	120436695	missense	possibly damaging	0.95
R8858:Abca16	UTSW	7	120453104	missense	probably benign
R8881:Abca16	UTSW	7	120475571	missense	probably benign	0.18
R9272:Abca16	UTSW	7	120477770	missense	probably benign	0.13
R9303:Abca16	UTSW	7	120527766	missense	probably benign	0.25
R9305:Abca16	UTSW	7	120527766	missense	probably benign	0.25
R9320:Abca16	UTSW	7	120540097	missense	probably damaging	0.98
R9413:Abca16	UTSW	7	120527199	missense	probably benign	0.01
R9512:Abca16	UTSW	7	120423740	missense	probably benign	0.01
R9559:Abca16	UTSW	7	120421796	critical splice donor site	unknown
RF020:Abca16	UTSW	7	120533657	missense	possibly damaging	0.90
X0066:Abca16	UTSW	7	120503386	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TACATGAGAGCTCAGTTGACTG -3'
(R):5'- CCACACCTATGTTACCTGGG -3'

Sequencing Primer
(F):5'- ACTAGCTAGCTAATTCAGTGAGG -3'
(R):5'- CACCTATGTTACCTGGGAAAGTTAC -3'

Posted On

2018-11-06