Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Abcf3'

265459

Institutional Source

Beutler Lab

Gene Symbol

Abcf3

Ensembl Gene

ENSMUSG00000003234

Gene Name

ATP-binding cassette, sub-family F member 3

Synonyms

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20367327-20380129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20378114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 542 (I542N)

Ref Sequence

ENSEMBL: ENSMUSP00000156048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003319] [ENSMUST00000148679] [ENSMUST00000232680]

AlphaFold

Q8K268

Predicted Effect

probably benign
Transcript: ENSMUST00000003319
AA Change: I548N

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: I548N

Domain	Start	End	E-Value	Type
low complexity region	120	137	N/A	INTRINSIC
AAA	202	401	3.23e-11	SMART
low complexity region	423	435	N/A	INTRINSIC
low complexity region	457	469	N/A	INTRINSIC
AAA	517	684	4.68e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135861

Predicted Effect

probably benign
Transcript: ENSMUST00000148679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154660

Predicted Effect

unknown
Transcript: ENSMUST00000231258
AA Change: I170N

Predicted Effect

probably benign
Transcript: ENSMUST00000232680
AA Change: I542N

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

Meta Mutation Damage Score

0.0735

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	T	A	7: 97,214,432 (GRCm39)	T48S	probably benign	Het
Abcc3	T	A	11: 94,247,802 (GRCm39)	L1230F	probably damaging	Het
Als2	A	G	1: 59,226,508 (GRCm39)	L932P	probably damaging	Het
Arhgap45	G	A	10: 79,862,281 (GRCm39)	R583H	probably damaging	Het
Asl	T	C	5: 130,042,245 (GRCm39)	Y277C	probably damaging	Het
Bcl9	A	T	3: 97,112,989 (GRCm39)	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Cdkn2aip	T	C	8: 48,164,532 (GRCm39)	K394E	probably damaging	Het
Cfap70	A	G	14: 20,470,830 (GRCm39)	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,852,662 (GRCm39)	K203N	probably damaging	Het
Cldn14	T	C	16: 93,716,192 (GRCm39)	K218R	probably damaging	Het
Coro6	T	C	11: 77,359,738 (GRCm39)	F336S	probably damaging	Het
Derl1	C	A	15: 57,739,007 (GRCm39)		probably benign	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dock2	T	A	11: 34,181,610 (GRCm39)	H1651L	probably benign	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,747,921 (GRCm39)	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,473,689 (GRCm39)	D35G	probably benign	Het
Evpl	T	C	11: 116,111,678 (GRCm39)	D2004G	probably damaging	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,732,987 (GRCm39)	V436A	probably benign	Het
Fbxl5	A	G	5: 43,908,222 (GRCm39)	Y660H	probably damaging	Het
Glt8d1	T	C	14: 30,728,617 (GRCm39)	V15A	probably benign	Het
Gpr25	A	C	1: 136,187,623 (GRCm39)	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,096,436 (GRCm39)	V257E	probably damaging	Het
Lama2	C	T	10: 26,877,231 (GRCm39)	E2652K	probably benign	Het
Lrriq1	T	A	10: 102,980,750 (GRCm39)	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,096,055 (GRCm39)	D294G	probably benign	Het
Mylk2	A	G	2: 152,761,274 (GRCm39)	N459S	probably benign	Het
Myo3b	A	C	2: 70,086,927 (GRCm39)		probably benign	Het
Naip6	T	C	13: 100,436,961 (GRCm39)	T521A	probably benign	Het
Nfxl1	C	T	5: 72,686,378 (GRCm39)	A608T	possibly damaging	Het
Nmd3	A	G	3: 69,631,732 (GRCm39)		probably benign	Het
Nol8	C	T	13: 49,831,868 (GRCm39)		probably benign	Het
Or1e29	A	T	11: 73,668,051 (GRCm39)	M34K	probably damaging	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8b42	T	A	9: 38,342,352 (GRCm39)	M258K	possibly damaging	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,824,566 (GRCm39)	F519S	probably damaging	Het
Phf11c	A	G	14: 59,618,933 (GRCm39)	V284A	probably benign	Het
Rasl11a	G	T	5: 146,784,113 (GRCm39)	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,989,469 (GRCm39)		noncoding transcript	Het
Rusc1	A	G	3: 88,999,030 (GRCm39)	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,303 (GRCm39)	E23G	probably benign	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Slc22a4	A	G	11: 53,898,615 (GRCm39)	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,850,907 (GRCm39)	N407S	probably benign	Het
Ssc4d	T	C	5: 135,994,578 (GRCm39)	T51A	possibly damaging	Het
Stip1	C	T	19: 7,013,016 (GRCm39)	A23T	probably benign	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,224,151 (GRCm39)	H115R	probably benign	Het
Tmem255b	T	A	8: 13,501,048 (GRCm39)	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,342,741 (GRCm39)	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,710,990 (GRCm39)	D187E	probably benign	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Vmn2r88	A	G	14: 51,656,089 (GRCm39)	N775S	probably damaging	Het
Vps13a	G	T	19: 16,642,101 (GRCm39)	N2175K	probably benign	Het
Wnk4	A	G	11: 101,167,717 (GRCm39)		probably benign	Het
Zfp180	A	T	7: 23,804,928 (GRCm39)	Q449L	probably damaging	Het

Other mutations in Abcf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Abcf3	APN	16	20,370,434 (GRCm39)	missense	probably damaging	0.98
IGL01570:Abcf3	APN	16	20,378,748 (GRCm39)	missense	probably damaging	1.00
IGL02239:Abcf3	APN	16	20,369,386 (GRCm39)	missense	possibly damaging	0.85
R0158:Abcf3	UTSW	16	20,371,316 (GRCm39)	missense	probably damaging	1.00
R0270:Abcf3	UTSW	16	20,378,918 (GRCm39)	splice site	probably null
R0579:Abcf3	UTSW	16	20,369,398 (GRCm39)	missense	probably benign
R0671:Abcf3	UTSW	16	20,369,237 (GRCm39)	missense	probably damaging	1.00
R0799:Abcf3	UTSW	16	20,378,084 (GRCm39)	missense	probably damaging	1.00
R1384:Abcf3	UTSW	16	20,378,053 (GRCm39)	missense	probably damaging	1.00
R1393:Abcf3	UTSW	16	20,379,180 (GRCm39)	missense	probably benign	0.01
R2356:Abcf3	UTSW	16	20,379,249 (GRCm39)	missense	probably benign	0.01
R2910:Abcf3	UTSW	16	20,378,982 (GRCm39)	missense	probably damaging	0.98
R2911:Abcf3	UTSW	16	20,378,982 (GRCm39)	missense	probably damaging	0.98
R3852:Abcf3	UTSW	16	20,379,189 (GRCm39)	missense	probably damaging	1.00
R4707:Abcf3	UTSW	16	20,367,808 (GRCm39)	missense	possibly damaging	0.91
R4752:Abcf3	UTSW	16	20,369,326 (GRCm39)	missense	probably damaging	1.00
R4885:Abcf3	UTSW	16	20,370,425 (GRCm39)	missense	probably benign	0.05
R5672:Abcf3	UTSW	16	20,368,002 (GRCm39)	missense	probably benign	0.00
R5817:Abcf3	UTSW	16	20,367,833 (GRCm39)	missense	possibly damaging	0.95
R6013:Abcf3	UTSW	16	20,369,311 (GRCm39)	splice site	probably null
R6019:Abcf3	UTSW	16	20,371,201 (GRCm39)	missense	possibly damaging	0.60
R6026:Abcf3	UTSW	16	20,369,320 (GRCm39)	missense	probably damaging	1.00
R6952:Abcf3	UTSW	16	20,368,484 (GRCm39)	splice site	probably null
R7327:Abcf3	UTSW	16	20,367,430 (GRCm39)	missense	probably benign	0.03
R7431:Abcf3	UTSW	16	20,377,539 (GRCm39)	missense	probably benign	0.00
R7539:Abcf3	UTSW	16	20,371,382 (GRCm39)	critical splice donor site	probably null
R7764:Abcf3	UTSW	16	20,368,040 (GRCm39)	missense	probably benign	0.36
R8358:Abcf3	UTSW	16	20,367,796 (GRCm39)	missense	possibly damaging	0.95
R8391:Abcf3	UTSW	16	20,368,968 (GRCm39)	missense	possibly damaging	0.89
R8416:Abcf3	UTSW	16	20,369,023 (GRCm39)	missense	probably benign	0.02
R8821:Abcf3	UTSW	16	20,369,214 (GRCm39)	missense	probably damaging	1.00
R8831:Abcf3	UTSW	16	20,369,214 (GRCm39)	missense	probably damaging	1.00
R9005:Abcf3	UTSW	16	20,368,056 (GRCm39)	missense	probably benign
R9160:Abcf3	UTSW	16	20,379,246 (GRCm39)	missense	possibly damaging	0.93
R9501:Abcf3	UTSW	16	20,379,125 (GRCm39)	missense	probably damaging	1.00
X0066:Abcf3	UTSW	16	20,378,447 (GRCm39)	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- TCCTTTTCCTCTGAAGGCAGG -3'
(R):5'- ATGGGCTGTGGAATATATAGGC -3'

Sequencing Primer
(F):5'- AATTTGAGGGCCAGATTCAGTCCC -3'
(R):5'- GCTGTGGAATATATAGGCAGCTG -3'

Posted On

2015-02-05