Mutagenetix > Incidental Mutations

Incidental Mutation 'R8483:AF366264'

657625

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R8483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 13838229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071308]

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	322	501	1.9e-45	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700021F05Rik	T	C	10: 43,532,919	Y76C	probably benign	Het
Ang6	A	G	14: 44,001,828	*148Q	probably null	Het
Ankrd28	A	T	14: 31,735,091		probably null	Het
Aurkc	T	A	7: 6,996,665	L57*	probably null	Het
Brca1	T	C	11: 101,525,976	D444G	probably damaging	Het
Cdhr4	T	C	9: 107,994,999	V204A	probably damaging	Het
Chd7	A	G	4: 8,822,412	D835G	possibly damaging	Het
Cux1	C	A	5: 136,275,090	A1328S	possibly damaging	Het
Cwc27	G	T	13: 104,804,264	P196T	probably benign	Het
Cwc27	C	A	13: 104,804,268	L194F	possibly damaging	Het
Cyp39a1	A	G	17: 43,683,007	D186G	probably benign	Het
Dnah3	T	C	7: 119,937,030	I3677V	probably benign	Het
Dnmt3b	A	G	2: 153,674,386	D477G	probably damaging	Het
Drc1	A	T	5: 30,350,441	Y269F	probably benign	Het
Esco2	T	C	14: 65,831,669	H64R	probably benign	Het
Fam46c	T	A	3: 100,472,468	H324L	probably damaging	Het
Gcnt3	A	T	9: 70,034,677	V203E	probably damaging	Het
Gm609	T	A	16: 45,419,872	I134F	possibly damaging	Het
Gpam	A	C	19: 55,088,942	V139G	probably damaging	Het
Gsta3	G	A	1: 21,262,839	S104N	probably damaging	Het
Hsd17b13	C	T	5: 103,977,183	G45R	probably damaging	Het
Ighe	T	C	12: 113,272,188	M173V		Het
Ipo5	A	G	14: 120,946,148	E1046G	probably benign	Het
Kank4	T	A	4: 98,771,378	Q821L	probably damaging	Het
Kat6b	G	T	14: 21,669,393	S1271I	probably damaging	Het
Klhl1	A	G	14: 96,381,934	S176P	probably benign	Het
Lbhd2	G	A	12: 111,411,756	D86N	probably damaging	Het
Lrp1	G	A	10: 127,558,650	R2565C	probably damaging	Het
Lrrc55	A	T	2: 85,191,951	C299S	probably benign	Het
Nprl3	T	A	11: 32,263,083	S44C	probably damaging	Het
Nucks1	A	G	1: 131,928,091	H86R	possibly damaging	Het
Olfr114	A	G	17: 37,589,975	V126A	possibly damaging	Het
Olfr1191-ps1	A	G	2: 88,643,334	D189G	probably benign	Het
Olfr818	T	A	10: 129,945,129	H311L	probably benign	Het
Ovgp1	T	A	3: 105,986,995		probably benign	Het
Oxa1l	G	A	14: 54,368,544		probably null	Het
Patj	C	A	4: 98,424,302	H292Q	probably damaging	Het
Pcdha9	A	G	18: 36,998,583	N235S	probably benign	Het
Pcdhb12	A	T	18: 37,437,537	T579S	possibly damaging	Het
Pde3b	A	G	7: 114,519,568	I647M	probably benign	Het
Pdp1	T	C	4: 11,961,982	R110G	probably benign	Het
Prb1	T	G	6: 132,208,435	R78S	unknown	Het
Prmt8	A	C	6: 127,704,013		probably null	Het
Rnf165	G	A	18: 77,468,338	A174V	probably benign	Het
Slc35f2	T	A	9: 53,809,701	Y249*	probably null	Het
Smok2b	A	C	17: 13,235,021	M23L	probably benign	Het
Sra1	A	G	18: 36,667,826	I153T	probably benign	Het
Stk38l	T	A	6: 146,758,519	H16Q	possibly damaging	Het
Unc80	T	C	1: 66,693,710	S3073P	possibly damaging	Het
Usp24	T	C	4: 106,373,756	I844T	probably damaging	Het
V1ra8	A	T	6: 90,202,934	I40F	probably benign	Het
Vmn2r88	T	A	14: 51,413,073	M81K	possibly damaging	Het
Vps8	T	C	16: 21,575,013	I1182T	probably damaging	Het
Wdr54	A	G	6: 83,153,610	V181A	probably benign	Het
Zbed4	A	G	15: 88,781,787	Y686C	probably damaging	Het
Zfyve28	T	C	5: 34,236,136	N62S	possibly damaging	Het
Zic1	T	C	9: 91,364,371	Y216C	probably damaging	Het

Other mutations in AF366264

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:AF366264	APN	8	13837704	missense	probably benign	0.03
IGL02647:AF366264	APN	8	13836979	missense	probably damaging	0.96
IGL03118:AF366264	APN	8	13838096	utr 5 prime	probably benign
FR4342:AF366264	UTSW	8	13837613	missense	probably benign	0.00
R0636:AF366264	UTSW	8	13837870	missense	probably benign	0.00
R1796:AF366264	UTSW	8	13836816	nonsense	probably null
R1913:AF366264	UTSW	8	13837143	missense	probably benign	0.16
R2353:AF366264	UTSW	8	13836951	missense	probably damaging	1.00
R2944:AF366264	UTSW	8	13837212	missense	probably damaging	1.00
R3714:AF366264	UTSW	8	13836736	missense	probably benign	0.04
R4222:AF366264	UTSW	8	13838061	missense	probably benign
R4628:AF366264	UTSW	8	13836625	missense	probably damaging	1.00
R4801:AF366264	UTSW	8	13836970	missense	possibly damaging	0.93
R4802:AF366264	UTSW	8	13836970	missense	possibly damaging	0.93
R4836:AF366264	UTSW	8	13838007	missense	probably benign
R5143:AF366264	UTSW	8	13836844	missense	possibly damaging	0.87
R5637:AF366264	UTSW	8	13837713	missense	possibly damaging	0.46
R5930:AF366264	UTSW	8	13837263	missense	probably benign	0.06
R6540:AF366264	UTSW	8	13837573	missense	probably benign	0.07
R6556:AF366264	UTSW	8	13837690	nonsense	probably null
R6724:AF366264	UTSW	8	13837083	missense	probably damaging	1.00
R7131:AF366264	UTSW	8	13836982	missense	probably damaging	0.98
R7148:AF366264	UTSW	8	13837996	missense	probably benign	0.01
R7660:AF366264	UTSW	8	13837995	missense	probably benign	0.06
R8198:AF366264	UTSW	8	13837056	missense	probably benign	0.11
R9090:AF366264	UTSW	8	13836697	missense	possibly damaging	0.53
R9271:AF366264	UTSW	8	13836697	missense	possibly damaging	0.53
X0020:AF366264	UTSW	8	13836847	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGTTTGCCCTATTGCTGAAG -3'
(R):5'- AGGAAGCATTCTCAGAACTCC -3'

Sequencing Primer
(F):5'- CCCTATTGCTGAAGCTTCGGG -3'
(R):5'- ACTCCTGAGTTTTCCAGAGTGGAC -3'

Posted On

2021-01-18