Mutagenetix > Incidental Mutation

Incidental Mutation 'R6257:Abcf1'

506433

Institutional Source

Beutler Lab

Gene Symbol

Abcf1

Ensembl Gene

ENSMUSG00000038762

Gene Name

ATP-binding cassette, sub-family F member 1

Synonyms

Abc50, D17Wsu166e, GCN20

MMRRC Submission

044374-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6257 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36267711-36280642 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36272074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 313 (N313K)

Ref Sequence

ENSEMBL: ENSMUSP00000036881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043757] [ENSMUST00000172661] [ENSMUST00000174128]

AlphaFold

Q6P542

Predicted Effect

probably benign
Transcript: ENSMUST00000043757
AA Change: N313K

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036881
Gene: ENSMUSG00000038762
AA Change: N313K

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	25	40	N/A	INTRINSIC
coiled coil region	46	79	N/A	INTRINSIC
low complexity region	173	208	N/A	INTRINSIC
low complexity region	218	234	N/A	INTRINSIC
low complexity region	247	255	N/A	INTRINSIC
AAA	320	524	9e-10	SMART
low complexity region	529	554	N/A	INTRINSIC
low complexity region	607	615	N/A	INTRINSIC
AAA	642	807	1.11e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000087205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104738

Predicted Effect

probably benign
Transcript: ENSMUST00000172661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173125

Predicted Effect

probably benign
Transcript: ENSMUST00000174128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174834

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the GCN20 subfamily. Unlike other members of the superfamily, this protein lacks the transmembrane domains which are characteristic of most ABC transporters. This protein may be regulated by tumor necrosis factor-alpha and play a role in enhancement of protein synthesis and the inflammation process. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele display lethality shortly after implantation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Adamts6	A	T	13: 104,598,790 (GRCm39)	Q877L	probably benign	Het
Adgre4	C	T	17: 56,109,133 (GRCm39)	T380I	possibly damaging	Het
Aspm	A	G	1: 139,409,791 (GRCm39)		probably null	Het
Atg16l2	A	G	7: 100,951,102 (GRCm39)		probably null	Het
Bcl6b	C	T	11: 70,116,878 (GRCm39)	R467H	probably benign	Het
Cacna2d4	G	A	6: 119,258,580 (GRCm39)		probably null	Het
Casp8ap2	A	G	4: 32,641,364 (GRCm39)	D806G	possibly damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Ccser1	A	G	6: 61,350,946 (GRCm39)	D501G	probably damaging	Het
Ccser1	A	G	6: 62,356,769 (GRCm39)	T736A	probably benign	Het
Cd164l2	T	A	4: 132,948,345 (GRCm39)	C19S	unknown	Het
Cdk15	G	A	1: 59,296,264 (GRCm39)		probably null	Het
Cebpz	T	C	17: 79,243,261 (GRCm39)	E131G	probably benign	Het
Ces1d	T	C	8: 93,893,025 (GRCm39)	D519G	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Chd1	T	G	17: 15,950,465 (GRCm39)		probably null	Het
Chil4	T	A	3: 106,111,412 (GRCm39)	D234V	possibly damaging	Het
Cldn16	T	A	16: 26,300,080 (GRCm39)	S173T	probably damaging	Het
Cpd	A	T	11: 76,703,496 (GRCm39)	F456I	probably benign	Het
Cst8	C	A	2: 148,647,365 (GRCm39)	A125E	probably damaging	Het
Dars2	G	T	1: 160,869,398 (GRCm39)	P617Q	probably damaging	Het
Defb26	A	G	2: 152,349,860 (GRCm39)	V140A	unknown	Het
Dntt	T	G	19: 41,041,501 (GRCm39)	V395G	probably damaging	Het
Dock10	G	A	1: 80,481,413 (GRCm39)		probably benign	Het
Dscam	T	C	16: 96,474,914 (GRCm39)	N1216S	possibly damaging	Het
En1	A	T	1: 120,531,636 (GRCm39)	D292V	unknown	Het
Erbb4	A	T	1: 68,435,432 (GRCm39)	L155Q	probably damaging	Het
Erbin	T	C	13: 103,998,796 (GRCm39)	T197A	probably benign	Het
Fat2	A	G	11: 55,153,407 (GRCm39)	F3602L	probably benign	Het
Fcsk	A	T	8: 111,617,177 (GRCm39)	C365S	probably benign	Het
Gm3443	A	T	19: 21,533,075 (GRCm39)	D13V	unknown	Het
Gm6401	T	C	14: 41,789,828 (GRCm39)	Q10R	probably benign	Het
Gmcl1	G	A	6: 86,677,623 (GRCm39)	T410I	possibly damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H2-T24	T	A	17: 36,325,574 (GRCm39)	T305S	probably benign	Het
Ksr2	A	T	5: 117,552,909 (GRCm39)	M6L	probably benign	Het
Lama2	A	G	10: 26,862,895 (GRCm39)	L2956S	possibly damaging	Het
Lhfpl3	A	G	5: 22,951,557 (GRCm39)	T123A	probably benign	Het
Lrp1b	T	A	2: 40,486,981 (GRCm39)		probably null	Het
Ltn1	G	A	16: 87,208,662 (GRCm39)	A812V	possibly damaging	Het
Maml2	C	T	9: 13,531,722 (GRCm39)	S312L	probably damaging	Het
Myo7b	T	A	18: 32,146,468 (GRCm39)	N106Y	probably damaging	Het
Nacc2	A	T	2: 25,950,420 (GRCm39)	C439S	probably damaging	Het
Ncoa7	A	G	10: 30,570,173 (GRCm39)	I224T	probably damaging	Het
Nf1	A	T	11: 79,440,317 (GRCm39)	L2303F	probably damaging	Het
Noc3l	A	T	19: 38,784,349 (GRCm39)		probably null	Het
Nup155	C	T	15: 8,180,282 (GRCm39)	R1120*	probably null	Het
Oas3	C	A	5: 120,899,200 (GRCm39)		probably benign	Het
Ocln	T	C	13: 100,676,017 (GRCm39)	I159V	probably benign	Het
Or1p1c	T	C	11: 74,160,833 (GRCm39)	V206A	probably damaging	Het
Or2t45	T	A	11: 58,669,829 (GRCm39)	V292E	probably damaging	Het
Os9	A	C	10: 126,955,006 (GRCm39)	C181G	probably damaging	Het
Phldb1	C	T	9: 44,607,437 (GRCm39)	R1256Q	probably damaging	Het
Pkd1l1	G	A	11: 8,892,195 (GRCm39)	T208I	probably benign	Het
Plppr4	T	C	3: 117,116,228 (GRCm39)	Q485R	possibly damaging	Het
Prkcb	T	A	7: 122,167,386 (GRCm39)	D365E	probably benign	Het
Ptprz1	T	A	6: 22,959,639 (GRCm39)	N45K	probably damaging	Het
Rbl2	T	C	8: 91,842,306 (GRCm39)	L987P	probably damaging	Het
Runx1	T	A	16: 92,492,799 (GRCm39)		probably benign	Het
Septin4	C	A	11: 87,481,175 (GRCm39)	Q372K	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Sri	T	A	5: 8,109,596 (GRCm39)		probably null	Het
St3gal3	C	T	4: 117,964,875 (GRCm39)		probably benign	Het
Tfpt	A	T	7: 3,632,566 (GRCm39)	L3*	probably null	Het
Tgfb3	T	C	12: 86,124,615 (GRCm39)	D31G	possibly damaging	Het
Thsd7a	G	T	6: 12,408,987 (GRCm39)	C678*	probably null	Het
Tmbim1	A	G	1: 74,332,225 (GRCm39)	Y101H	probably damaging	Het
Tmem17	A	G	11: 22,462,297 (GRCm39)		probably benign	Het
Tmprss15	A	T	16: 78,769,113 (GRCm39)	V769E	probably damaging	Het
Trak1	C	T	9: 121,275,821 (GRCm39)	R175C	probably damaging	Het
Trak1	G	T	9: 121,196,290 (GRCm39)	V41F	possibly damaging	Het
Trim30c	T	C	7: 104,039,375 (GRCm39)	Y140C	probably damaging	Het
Tubgcp3	A	T	8: 12,699,835 (GRCm39)		probably null	Het
Ubr7	T	A	12: 102,732,099 (GRCm39)	C158*	probably null	Het
Vmn2r79	A	T	7: 86,651,778 (GRCm39)	L392F	probably benign	Het
Zfp536	T	A	7: 37,179,830 (GRCm39)	D925V	probably damaging	Het

Other mutations in Abcf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01405:Abcf1	APN	17	36,274,902 (GRCm39)	missense	probably damaging	1.00
IGL02008:Abcf1	APN	17	36,272,954 (GRCm39)	missense	probably benign
IGL02209:Abcf1	APN	17	36,274,901 (GRCm39)	missense	probably damaging	0.99
IGL02218:Abcf1	APN	17	36,269,230 (GRCm39)	missense	probably benign	0.00
IGL02455:Abcf1	APN	17	36,271,021 (GRCm39)	missense	probably damaging	1.00
IGL03238:Abcf1	APN	17	36,274,215 (GRCm39)	missense	probably damaging	0.99
bamboo	UTSW	17	36,268,954 (GRCm39)	splice site	probably benign
IGL02837:Abcf1	UTSW	17	36,268,473 (GRCm39)	missense	probably benign
R0007:Abcf1	UTSW	17	36,270,562 (GRCm39)	missense	probably damaging	0.99
R0078:Abcf1	UTSW	17	36,268,954 (GRCm39)	splice site	probably benign
R0617:Abcf1	UTSW	17	36,272,079 (GRCm39)	missense	probably benign	0.00
R0655:Abcf1	UTSW	17	36,268,737 (GRCm39)	missense	probably benign	0.20
R1421:Abcf1	UTSW	17	36,271,801 (GRCm39)	missense	probably damaging	1.00
R1879:Abcf1	UTSW	17	36,272,704 (GRCm39)	missense	probably benign	0.13
R3433:Abcf1	UTSW	17	36,269,109 (GRCm39)	missense	probably benign	0.36
R3915:Abcf1	UTSW	17	36,270,402 (GRCm39)	missense	possibly damaging	0.46
R4056:Abcf1	UTSW	17	36,270,807 (GRCm39)	missense	possibly damaging	0.90
R4057:Abcf1	UTSW	17	36,270,807 (GRCm39)	missense	possibly damaging	0.90
R4114:Abcf1	UTSW	17	36,270,146 (GRCm39)	missense	probably benign	0.25
R4709:Abcf1	UTSW	17	36,271,069 (GRCm39)	missense	probably damaging	1.00
R4722:Abcf1	UTSW	17	36,268,933 (GRCm39)	intron	probably benign
R4932:Abcf1	UTSW	17	36,270,342 (GRCm39)	missense	possibly damaging	0.62
R5129:Abcf1	UTSW	17	36,271,687 (GRCm39)	unclassified	probably benign
R5255:Abcf1	UTSW	17	36,270,629 (GRCm39)	splice site	probably null
R5517:Abcf1	UTSW	17	36,269,233 (GRCm39)	missense	possibly damaging	0.48
R5518:Abcf1	UTSW	17	36,269,233 (GRCm39)	missense	possibly damaging	0.48
R5660:Abcf1	UTSW	17	36,274,539 (GRCm39)	missense	possibly damaging	0.87
R5836:Abcf1	UTSW	17	36,272,918 (GRCm39)	missense	possibly damaging	0.77
R6193:Abcf1	UTSW	17	36,274,464 (GRCm39)	missense	possibly damaging	0.77
R6247:Abcf1	UTSW	17	36,271,956 (GRCm39)	missense	probably damaging	1.00
R6876:Abcf1	UTSW	17	36,270,136 (GRCm39)	missense	probably benign	0.45
R7095:Abcf1	UTSW	17	36,268,403 (GRCm39)	missense	possibly damaging	0.81
R7134:Abcf1	UTSW	17	36,270,144 (GRCm39)	missense	possibly damaging	0.90
R7475:Abcf1	UTSW	17	36,274,459 (GRCm39)	critical splice donor site	probably null
R7843:Abcf1	UTSW	17	36,270,135 (GRCm39)	missense	possibly damaging	0.89
R7867:Abcf1	UTSW	17	36,272,890 (GRCm39)	missense	probably damaging	0.99
R8228:Abcf1	UTSW	17	36,271,933 (GRCm39)	critical splice donor site	probably null
R9266:Abcf1	UTSW	17	36,270,178 (GRCm39)	nonsense	probably null
R9310:Abcf1	UTSW	17	36,272,621 (GRCm39)	missense	probably null	0.16
RF037:Abcf1	UTSW	17	36,274,080 (GRCm39)	unclassified	probably benign
RF038:Abcf1	UTSW	17	36,274,093 (GRCm39)	unclassified	probably benign
RF041:Abcf1	UTSW	17	36,274,093 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGTTTCATCAGCCACCAC -3'
(R):5'- AGCAAGCAGAGGTCCTAAAATTC -3'

Sequencing Primer
(F):5'- GTCAATGCCAGTCCCACCTG -3'
(R):5'- GCAGAGGTCCTAAAATTCAATTCTC -3'

Posted On

2018-03-15