Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Abcf3'

480073

Institutional Source

Beutler Lab

Gene Symbol

Abcf3

Ensembl Gene

ENSMUSG00000003234

Gene Name

ATP-binding cassette, sub-family F member 3

Synonyms

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6026 (G1)

Quality Score

201.009

Status

Validated

Chromosome

Chromosomal Location

20367327-20380129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20369320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 234 (E234G)

Ref Sequence

ENSEMBL: ENSMUSP00000156048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003319] [ENSMUST00000232680] [ENSMUST00000232490]

AlphaFold

Q8K268

Predicted Effect

probably damaging
Transcript: ENSMUST00000003319
AA Change: E240G

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

SMART Domains

Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: E240G

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: ENSMUST00000119553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154660

Predicted Effect

probably benign
Transcript: ENSMUST00000231258

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231978

Predicted Effect

probably damaging
Transcript: ENSMUST00000232680
AA Change: E234G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232127

Predicted Effect

probably benign
Transcript: ENSMUST00000232490

Meta Mutation Damage Score

0.4937

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Actrt2	T	C	4: 154,751,047 (GRCm39)	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Gm44511	T	C	6: 128,797,240 (GRCm39)	T83A	possibly damaging	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,738,600 (GRCm39)	E154V	probably damaging	Het
Gstz1	A	C	12: 87,206,948 (GRCm39)	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Ihh	T	C	1: 74,985,886 (GRCm39)	T200A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	possibly 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
R3081:Abcf3	UTSW	16	20,378,114 (GRCm39)	missense	probably benign	0.09
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
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'- GCTGTGTTTCTAGATGATTCTTCA -3'
(R):5'- ACGGAGACACTATCTAAGGGAC -3'

Sequencing Primer
(F):5'- ATCTCTCTTTCTTACCACCCCTTCAG -3'
(R):5'- ACTTCTGAGTTCAAGGCCAG -3'

Posted On

2017-06-26