Mutagenetix > Incidental Mutations

Incidental Mutation 'R4222:AF366264'

319406

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

MMRRC Submission

041042-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.684) question?

Stock #

R4222 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13838061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 10 (E10G)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

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

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: E10G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: E10G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.3%

Validation Efficiency

91% (49/54)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	A	T	19: 29,718,749	S1115T	probably benign	Het
Adgre4	A	G	17: 55,785,121	Y127C	probably damaging	Het
Aif1l	A	T	2: 31,962,239	S40C	probably damaging	Het
Alkal1	A	G	1: 6,388,615	K76R	probably damaging	Het
Atm	T	C	9: 53,480,669	S1807G	probably benign	Het
Bhmt-ps1	T	A	4: 26,369,352		noncoding transcript	Het
Cyp3a11	A	T	5: 145,860,466	Y368N	probably damaging	Het
Gar1	A	T	3: 129,830,806		probably benign	Het
Gm5265	A	T	1: 169,453,801		noncoding transcript	Het
Gm7964	T	G	7: 83,756,822	N281K	probably damaging	Het
Grin1	T	C	2: 25,297,320		probably benign	Het
Hapln4	T	A	8: 70,086,960	W214R	probably damaging	Het
Hist1h1b	A	T	13: 21,779,977		probably benign	Het
Irgq	C	A	7: 24,533,625	A297D	possibly damaging	Het
Kri1	T	C	9: 21,281,063	E145G	probably benign	Het
Lama3	T	C	18: 12,450,403	C683R	probably damaging	Het
Mrpl22	T	A	11: 58,171,867		probably benign	Het
Myo7a	T	A	7: 98,073,229	Q1163L	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,251	D172E	probably benign	Het
Nrxn3	G	T	12: 89,532,992	G718*	probably null	Het
Olfm3	C	T	3: 115,090,171	Q41*	probably null	Het
Olfr52	G	T	2: 86,181,997	T38K	probably damaging	Het
Olfr617	A	G	7: 103,584,759	T246A	probably damaging	Het
Parm1	G	A	5: 91,593,867	M31I	probably benign	Het
Phc3	A	T	3: 30,936,819	S383R	probably damaging	Het
Pkn2	A	T	3: 142,793,866	L950*	probably null	Het
Plec	C	T	15: 76,177,319	R2671H	probably damaging	Het
Ptbp1	T	C	10: 79,859,213	I125T	probably benign	Het
Ptch1	C	T	13: 63,534,329	R537H	probably damaging	Het
Ptk7	A	T	17: 46,574,463	M679K	probably benign	Het
Ptx3	C	T	3: 66,224,706	T216I	probably damaging	Het
Rrp8	T	C	7: 105,734,022	I346V	possibly damaging	Het
Rsrc1	A	G	3: 66,994,567	K17E	unknown	Het
Ryr2	T	A	13: 11,737,873	E1854V	possibly damaging	Het
Slc25a45	A	T	19: 5,880,118	I39F	probably damaging	Het
Spag5	G	A	11: 78,304,511	V215I	probably damaging	Het
Ston1	A	G	17: 88,636,771	Y535C	probably damaging	Het
Tbc1d14	A	T	5: 36,493,108	S395T	probably benign	Het
Tlr11	C	T	14: 50,361,849	P431S	probably damaging	Het
Trerf1	G	T	17: 47,314,801		noncoding transcript	Het
Trim43b	T	A	9: 89,090,639	Q154L	probably benign	Het
Ttc26	A	G	6: 38,395,075	Y200C	probably damaging	Het
Vmn1r49	A	G	6: 90,072,246	F258S	probably benign	Het
Vmn1r-ps103	C	A	13: 22,442,028		noncoding transcript	Het
Vmn2r14	A	G	5: 109,216,283	M589T	probably benign	Het
Vmn2r60	A	T	7: 42,116,528	T20S	probably benign	Het
Zbtb5	A	G	4: 44,993,855		probably null	Het
Zfp35	T	G	18: 24,003,189	F197V	possibly 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
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
R8483:AF366264	UTSW	8	13838229	start gained	probably benign
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'- TGTTCTCTCGGGAGCTCTAG -3'
(R):5'- TTTGCGACCTTGGACCAACC -3'

Sequencing Primer
(F):5'- AGCTCTAGGTCTTGAGGCTCC -3'
(R):5'- GCCAGGTATAAGGTTGCT -3'

Posted On

2015-06-10