Mutagenetix > Incidental Mutation

Incidental Mutation 'R7764:Abcf3'

598146

Institutional Source

Beutler Lab

Gene Symbol

Abcf3

Ensembl Gene

ENSMUSG00000003234

Gene Name

ATP-binding cassette, sub-family F member 3

Synonyms

MMRRC Submission

045820-MU

Accession Numbers

Essential gene?

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

Stock #

R7764 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20367327-20380129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 20368040 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 93 (L93V)

Ref Sequence

ENSEMBL: ENSMUSP00000003319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003319] [ENSMUST00000007216] [ENSMUST00000232490] [ENSMUST00000232680]

AlphaFold

Q8K268

Predicted Effect

probably benign
Transcript: ENSMUST00000003319
AA Change: L93V

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: L93V

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

probably benign
Transcript: ENSMUST00000007216

SMART Domains

Protein: ENSMUSP00000007216
Gene: ENSMUSG00000022841

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	137	6.7e-8	PFAM
Pfam:Adap_comp_sub	159	435	3.2e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231258

Predicted Effect

probably damaging
Transcript: ENSMUST00000232490
AA Change: L92V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232680
AA Change: L87V

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	A	C	1: 177,591,827 (GRCm39)	M452R	probably damaging	Het
Aldh3b1	T	A	19: 3,971,563 (GRCm39)	K102*	probably null	Het
Ccdc162	A	T	10: 41,566,109 (GRCm39)	V78D	possibly damaging	Het
Ccr3	T	C	9: 123,829,451 (GRCm39)	V262A	probably benign	Het
Cdk13	A	T	13: 17,895,890 (GRCm39)		probably null	Het
Cdyl	A	T	13: 36,000,126 (GRCm39)	T136S	possibly damaging	Het
Chd2	T	C	7: 73,121,567 (GRCm39)	D1015G	probably null	Het
Cntn2	C	A	1: 132,450,101 (GRCm39)	A598S	probably benign	Het
Cxxc4	G	T	3: 133,945,856 (GRCm39)	G146C	unknown	Het
Dnah2	G	A	11: 69,348,984 (GRCm39)	T2501I	probably benign	Het
Dock8	T	A	19: 25,074,899 (GRCm39)	I471N	probably benign	Het
Eaf2	A	G	16: 36,645,045 (GRCm39)	V59A	probably damaging	Het
Egflam	T	A	15: 7,347,736 (GRCm39)	I65F	probably damaging	Het
Exoc3l	A	G	8: 106,017,333 (GRCm39)	V577A	possibly damaging	Het
Folh1	A	T	7: 86,412,126 (GRCm39)	M215K	probably benign	Het
Fosb	T	C	7: 19,038,971 (GRCm39)	D271G	possibly damaging	Het
Frmd4b	A	G	6: 97,272,891 (GRCm39)	Y834H	probably damaging	Het
Fsip2	T	C	2: 82,811,252 (GRCm39)	S2524P	possibly damaging	Het
Gbp3	A	G	3: 142,271,024 (GRCm39)	T143A	probably benign	Het
Grk2	A	T	19: 4,337,391 (GRCm39)	L632Q	probably damaging	Het
Hars1	A	T	18: 36,903,237 (GRCm39)	D364E	probably damaging	Het
Hsd17b4	G	T	18: 50,279,482 (GRCm39)	G154*	probably null	Het
Kif5c	T	C	2: 49,617,973 (GRCm39)		probably null	Het
Kif5c	T	C	2: 49,639,339 (GRCm39)	L800P	probably damaging	Het
Krt19	T	C	11: 100,032,218 (GRCm39)	N282S	probably benign	Het
Med23	T	G	10: 24,785,818 (GRCm39)		probably null	Het
Meltf	A	G	16: 31,699,085 (GRCm39)	Q65R	probably benign	Het
Mms22l	T	C	4: 24,598,842 (GRCm39)	S1106P	probably damaging	Het
Mprip	A	G	11: 59,655,242 (GRCm39)	T733A	probably damaging	Het
Mul1	G	A	4: 138,162,080 (GRCm39)	G4S	possibly damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Mylk	G	T	16: 34,742,553 (GRCm39)	V1022L	probably benign	Het
Ncald	G	T	15: 37,397,454 (GRCm39)	N75K	probably damaging	Het
Nfib	A	G	4: 82,238,731 (GRCm39)	S492P	possibly damaging	Het
Notch2	A	T	3: 98,050,304 (GRCm39)	I1860F	probably damaging	Het
Or9i14	A	G	19: 13,792,111 (GRCm39)	I281T	probably benign	Het
Oxr1	T	C	15: 41,683,263 (GRCm39)	S298P	probably benign	Het
Pcnt	T	C	10: 76,190,082 (GRCm39)	D2818G	probably benign	Het
Pmpcb	G	A	5: 21,948,450 (GRCm39)	A244T	probably damaging	Het
Poln	A	G	5: 34,274,151 (GRCm39)		probably null	Het
Polr1a	G	A	6: 71,930,054 (GRCm39)	V914M	probably damaging	Het
Rab15	A	C	12: 76,851,215 (GRCm39)		probably null	Het
Rasgrf1	G	T	9: 89,876,747 (GRCm39)	S704I	possibly damaging	Het
Rsf1	GGCGGCGG	GGCGGCGGGCGCGGCGG	7: 97,229,134 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,613 (GRCm39)	G15W	probably damaging	Het
Scrib	T	C	15: 75,919,242 (GRCm39)	*1666W	probably null	Het
Setd1b	G	C	5: 123,284,622 (GRCm39)	R184P	unknown	Het
Sfxn2	A	T	19: 46,574,179 (GRCm39)	N123I	probably damaging	Het
Slc22a3	A	G	17: 12,677,383 (GRCm39)	W262R	probably damaging	Het
Slc38a10	A	G	11: 119,995,905 (GRCm39)	L1064P	probably damaging	Het
Sorcs2	A	T	5: 36,181,416 (GRCm39)	S1077R	possibly damaging	Het
Them7	G	T	2: 105,128,171 (GRCm39)	E51*	probably null	Het
Ubc	A	G	5: 125,465,133 (GRCm39)	S65P	possibly damaging	Het
Ubqln3	A	T	7: 103,790,443 (GRCm39)	M549K	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,529 (GRCm39)	L228P	probably damaging	Het
Vmn2r60	A	G	7: 41,844,535 (GRCm39)	T633A	probably damaging	Het
Zfp382	T	C	7: 29,832,700 (GRCm39)	V117A	probably benign	Het
Zic1	C	T	9: 91,247,745 (GRCm39)		probably benign	Het
Zmym4	A	T	4: 126,819,409 (GRCm39)	F165I	probably benign	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
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
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'- CTGTAGGTGCCAAGGGAATG -3'
(R):5'- GCTTCAAGGTCTGTATGCCTC -3'

Sequencing Primer
(F):5'- TGCCAAGGGAATGAAGTTGATG -3'
(R):5'- TCCTACTACAGACAATAGCTTGGAG -3'

Posted On

2019-11-26