Mutagenetix > Incidental Mutation

Incidental Mutation 'R4836:AF366264'

373243

Institutional Source

Beutler Lab

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

MMRRC Submission

042451-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.526) question?

Stock #

R4836 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13838007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 28 (S28N)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

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

AlphaFold

G3X9P9

Predicted Effect

probably benign
Transcript: ENSMUST00000071308
AA Change: S28N

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

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: S28N

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: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	T	C	7: 140,299,108	I1051T	probably benign	Het
Acox1	A	T	11: 116,175,326	S453T	probably benign	Het
Ahnak2	A	T	12: 112,774,116	V368D	probably damaging	Het
Ankrd53	A	T	6: 83,768,152	Y448F	probably damaging	Het
Arhgef15	A	T	11: 68,949,925		probably benign	Het
Atg2b	T	C	12: 105,646,814	N1166S	probably benign	Het
Atl3	C	T	19: 7,509,545	R77*	probably null	Het
Bend6	T	C	1: 33,883,573		probably benign	Het
Ccnt1	C	A	15: 98,567,563	R25L	probably damaging	Het
Cct4	A	G	11: 23,002,898	T525A	probably benign	Het
Cep350	T	C	1: 155,928,833	I835V	probably damaging	Het
Clcn1	G	T	6: 42,309,964	V652L	probably damaging	Het
Cntln	T	A	4: 85,049,720	Y725*	probably null	Het
Cog5	T	C	12: 31,919,733	F21L	probably benign	Het
D6Ertd527e	GGCAGCAGCAGCA	GGCAGCAGCAGCAGCA	6: 87,111,424		probably benign	Het
Dnm2	A	T	9: 21,491,330		probably benign	Het
Dnmt1	C	T	9: 20,908,558	V1430I	probably damaging	Het
Dpep1	A	G	8: 123,200,367	D285G	probably damaging	Het
Eef2kmt	C	T	16: 5,249,003	V129M	probably damaging	Het
Epha3	A	T	16: 63,583,557	M726K	probably damaging	Het
Fat3	A	G	9: 16,377,723	L168P	probably damaging	Het
Frem3	T	A	8: 80,663,397	F1759Y	probably damaging	Het
Fubp3	T	A	2: 31,608,141	S56R	possibly damaging	Het
Gm1965	T	C	6: 89,145,410		noncoding transcript	Het
Gm5592	C	T	7: 41,215,534		probably benign	Het
Hils1	T	A	11: 94,968,017	L46*	probably null	Het
Irs1	TGGGGTGGACATCGAACTGAAGGAG	TG	1: 82,287,732	913	probably null	Het
Isl1	A	G	13: 116,303,083	M243T	probably benign	Het
Itpr1	A	T	6: 108,389,537	I142F	probably damaging	Het
Jak1	T	C	4: 101,155,066	T1069A	probably damaging	Het
Jmjd1c	T	C	10: 67,233,446	V1848A	probably benign	Het
Kdm5a	T	C	6: 120,412,402	V930A	probably damaging	Het
Kdm5b	C	A	1: 134,593,315		probably null	Het
Lexm	T	A	4: 106,610,527		probably null	Het
Lilra5	T	C	7: 4,238,714	F171L	possibly damaging	Het
Map1b	A	G	13: 99,431,054	S1720P	unknown	Het
Mcpt1	A	T	14: 56,019,560	Q185L	probably damaging	Het
Mmp20	T	A	9: 7,644,026	D238E	possibly damaging	Het
Mov10l1	A	T	15: 89,020,269	I784F	possibly damaging	Het
Mroh2b	C	T	15: 4,904,270	P101S	probably damaging	Het
Myh3	G	T	11: 67,096,939	A1413S	probably benign	Het
Nat6	A	T	9: 107,583,539	Y211F	probably damaging	Het
Npdc1	G	A	2: 25,408,945	D284N	probably damaging	Het
Olfr1009	A	G	2: 85,721,449	I15V	probably benign	Het
Olfr1054	A	T	2: 86,333,227	M43K	probably benign	Het
Olfr1056	G	A	2: 86,355,750	L211F	probably benign	Het
Olfr1196	A	G	2: 88,701,200	I43T	probably damaging	Het
Olfr330	A	C	11: 58,529,482	M168R	probably damaging	Het
Olfr533	A	G	7: 140,467,076	R292G	probably damaging	Het
Palld	T	A	8: 61,687,381	T531S	probably benign	Het
Parp4	A	G	14: 56,585,738	E105G	probably benign	Het
Phf11a	A	T	14: 59,287,579	S59T	probably damaging	Het
Ppp1r12b	G	T	1: 134,955,733	A17E	probably benign	Het
Rad50	A	T	11: 53,650,653	I1252N	probably damaging	Het
Ramp3	A	G	11: 6,674,761		probably null	Het
Rrbp1	G	A	2: 143,988,417	T610I	possibly damaging	Het
Slc4a10	A	G	2: 62,268,187	Y555C	probably damaging	Het
Slc5a2	A	G	7: 128,267,505		probably null	Het
Smoc1	T	A	12: 81,179,548	D371E	probably damaging	Het
Stmn1	T	A	4: 134,470,184		probably benign	Het
Sulf1	C	T	1: 12,842,686	L715F	probably benign	Het
Surf1	T	C	2: 26,914,243	T180A	possibly damaging	Het
Syne2	A	G	12: 75,979,819	I3474V	probably damaging	Het
Tchh	A	T	3: 93,445,148	R632W	unknown	Het
Tchh	A	T	3: 93,447,588	D1445V	unknown	Het
Tctn1	A	T	5: 122,245,505	M505K	probably benign	Het
Tdrkh	T	A	3: 94,425,590	I150N	probably damaging	Het
Tespa1	C	T	10: 130,362,159	T350I	probably benign	Het
Thbs1	A	G	2: 118,115,018	Y326C	possibly damaging	Het
Tmem208	C	T	8: 105,328,664	S119F	probably damaging	Het
Tmprss6	G	C	15: 78,445,388	A91G	probably damaging	Het
Trp53bp2	C	T	1: 182,431,582	R67W	probably damaging	Het
Ttn	A	G	2: 76,711,197	I25488T	possibly damaging	Het
Txnl4a	A	G	18: 80,222,253	E111G	probably damaging	Het
Unc13b	T	G	4: 43,237,137	I3402M	probably damaging	Het
Vmn1r188	A	C	13: 22,088,121	I82L	probably benign	Het
Zfp65	A	G	13: 67,708,875	V95A	probably benign	Het
Zfp985	T	A	4: 147,584,155	S493R	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
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'- GAGGTCCTTCGGTCAACTCTAG -3'
(R):5'- GAGCCAGGTATAAGGTTGCTTTC -3'

Sequencing Primer
(F):5'- CCTTCGGTCAACTCTAGGGGTTTTAG -3'
(R):5'- CCAGGTATAAGGTTGCTTTCACTTG -3'

Posted On

2016-03-01