Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Abcf3'

569018

Institutional Source

Beutler Lab

Gene Symbol

Abcf3

Ensembl Gene

ENSMUSG00000003234

Gene Name

ATP-binding cassette, sub-family F member 3

Synonyms

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

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

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20367327-20380129 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 20367430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 3 (T3I)

Ref Sequence

ENSEMBL: ENSMUSP00000003319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003319] [ENSMUST00000007216] [ENSMUST00000090023] [ENSMUST00000232490] [ENSMUST00000232680]

AlphaFold

Q8K268

Predicted Effect

probably benign
Transcript: ENSMUST00000003319
AA Change: T3I

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000003319
Gene: ENSMUSG00000003234
AA Change: T3I

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: ENSMUST00000090023

SMART Domains

Protein: ENSMUSP00000087477
Gene: ENSMUSG00000022841

Domain	Start	End	E-Value	Type
Pfam:Clat_adaptor_s	1	137	4.2e-8	PFAM
Pfam:Adap_comp_sub	157	433	8.7e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000231258

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232490
AA Change: T2I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000232680
AA Change: T3I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	T	A	10: 20,862,976 (GRCm39)	V717E	probably damaging	Het
Anapc4	A	G	5: 53,002,672 (GRCm39)	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,251,367 (GRCm39)	C120*	probably null	Het
Bdp1	A	T	13: 100,178,040 (GRCm39)	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,373,461 (GRCm39)	V141A	probably damaging	Het
Cfap46	G	T	7: 139,215,062 (GRCm39)		probably null	Het
Cgnl1	C	A	9: 71,633,165 (GRCm39)	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,369,573 (GRCm39)	S522G	probably benign	Het
Cox19	A	G	5: 139,328,402 (GRCm39)	F37S	probably damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,756 (GRCm39)	R346W	probably damaging	Het
Dip2a	A	C	10: 76,108,396 (GRCm39)	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,308,869 (GRCm39)	W1961G	probably damaging	Het
Dst	T	C	1: 34,240,486 (GRCm39)	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,691,627 (GRCm39)	S92G	probably damaging	Het
Ep300	C	T	15: 81,511,515 (GRCm39)	T865I	unknown	Het
Ercc6	A	G	14: 32,248,361 (GRCm39)	E304G	probably benign	Het
Filip1l	A	C	16: 57,391,300 (GRCm39)	E629D	probably damaging	Het
Frem1	G	A	4: 82,938,992 (GRCm39)	T30I	possibly damaging	Het
Glb1	T	C	9: 114,246,126 (GRCm39)	F59S	probably benign	Het
Gli3	T	C	13: 15,900,144 (GRCm39)	L1177P	probably benign	Het
Gpatch2l	A	G	12: 86,303,646 (GRCm39)	T223A	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hmcn1	A	T	1: 150,479,565 (GRCm39)	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,899,542 (GRCm39)	Y111N	probably damaging	Het
Ifi207	A	G	1: 173,556,581 (GRCm39)	L726P	probably benign	Het
Iqcn	T	A	8: 71,169,453 (GRCm39)	M1181K	possibly damaging	Het
Iqgap2	T	A	13: 95,772,163 (GRCm39)	M1339L	probably benign	Het
Kif21b	A	G	1: 136,087,387 (GRCm39)	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,671,234 (GRCm39)	C79F	unknown	Het
Ldb3	T	C	14: 34,293,759 (GRCm39)	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,516,794 (GRCm39)	V162E	probably benign	Het
Map7	T	A	10: 20,109,208 (GRCm39)	V87E	unknown	Het
Mndal	A	T	1: 173,703,185 (GRCm39)	D73E	unknown	Het
Msantd1	T	C	5: 35,075,039 (GRCm39)	S34P	probably damaging	Het
Myh14	T	C	7: 44,260,977 (GRCm39)	Q1838R	possibly damaging	Het
Myh15	G	T	16: 48,993,369 (GRCm39)	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,565,796 (GRCm39)	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686 (GRCm39)	L944Q	probably benign	Het
Or5h27	A	T	16: 59,006,376 (GRCm39)	F157I	unknown	Het
Orc1	A	G	4: 108,445,911 (GRCm39)	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,634,893 (GRCm39)	A490T	probably benign	Het
Pirb	A	T	7: 3,720,187 (GRCm39)	C395*	probably null	Het
Ppp1r11	T	C	17: 37,261,900 (GRCm39)	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,524 (GRCm39)	D290G	probably benign	Het
Ptpn21	G	T	12: 98,646,360 (GRCm39)	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,570,660 (GRCm39)	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,790,811 (GRCm39)	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,219,330 (GRCm39)	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slain2	A	T	5: 73,132,002 (GRCm39)	T498S	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,499,462 (GRCm39)	I307F	probably damaging	Het
Snap91	C	T	9: 86,655,598 (GRCm39)	G800R	unknown	Het
Tnc	G	T	4: 63,882,999 (GRCm39)		probably null	Het
Trav21-dv12	T	C	14: 54,113,514 (GRCm39)		probably benign	Het
Txk	A	T	5: 72,873,226 (GRCm39)	I228N	probably damaging	Het
Vac14	T	C	8: 111,438,252 (GRCm39)	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr35	T	G	12: 9,037,312 (GRCm39)	M306R	probably benign	Het
Zan	A	T	5: 137,463,494 (GRCm39)	S562T	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
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'- TGCGTCCCGTTCTACTAGAC -3'
(R):5'- CAGTGTCTGTACAGCTCACTC -3'

Sequencing Primer
(F):5'- TACTAGACCCGCCCCCTG -3'
(R):5'- CCTCAAGATAAGAGGTCACGCAG -3'

Posted On

2019-09-13