Mutagenetix > Incidental Mutation

Incidental Mutation 'R6283:Gm853'

508040

Institutional Source

Beutler Lab

Gene Symbol

Gm853

Ensembl Gene

ENSMUSG00000023120

Gene Name

predicted gene 853

Synonyms

LOC332942

MMRRC Submission

044453-MU

Accession Numbers

Genbank: NM_001034872.2; Ensembl: ENSMUST00000023884

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6283 (G1)

Quality Score

218.009

Status

Validated

Chromosome

Chromosomal Location

130209109-130222401 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130221741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 5 (S5P)

Ref Sequence

ENSEMBL: ENSMUSP00000023884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023884]

AlphaFold

Q3UNZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000023884
AA Change: S5P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023884
Gene: ENSMUSG00000023120
AA Change: S5P

Domain	Start	End	E-Value	Type
Pfam:Orn_Arg_deC_N	56	294	3.6e-79	PFAM
Pfam:Orn_DAP_Arg_deC	263	410	4.3e-23	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (59/59)

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	G	A	9: 103,282,635	R14*	probably null	Het
Acsf3	C	A	8: 122,785,955	R372S	probably damaging	Het
Adamts20	A	G	15: 94,351,721	S472P	probably benign	Het
Bhlhe40	T	C	6: 108,665,031	L312P	probably damaging	Het
Ccdc180	A	G	4: 45,902,486	E305G	possibly damaging	Het
Ccdc83	T	A	7: 90,236,407	R257*	probably null	Het
Cd209e	G	A	8: 3,849,212	Q167*	probably null	Het
Cd300e	G	A	11: 115,054,554	T138I	probably benign	Het
Ces2c	A	T	8: 104,849,699	M115L	probably benign	Het
Cfap61	T	A	2: 146,129,102		probably null	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Cic	C	T	7: 25,286,034	S301L	probably damaging	Het
Cks2	A	G	13: 51,645,459	H16R	probably benign	Het
Copa	A	T	1: 172,118,848	H953L	possibly damaging	Het
Ctdsp2	T	C	10: 126,995,880	V145A	possibly damaging	Het
Cyp2j13	A	G	4: 96,056,837	V377A	possibly damaging	Het
Dhx57	A	G	17: 80,274,805	V404A	probably benign	Het
Dock2	T	C	11: 34,707,325	S340G	probably damaging	Het
Ggps1	A	G	13: 14,057,794		probably null	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm11444	T	C	11: 85,846,791		probably null	Het
Grina	A	G	15: 76,248,551	T173A	possibly damaging	Het
Hcrtr1	G	A	4: 130,135,340	T223I	probably benign	Het
Igsf10	T	A	3: 59,319,449	T2268S	probably damaging	Het
Ino80d	C	T	1: 63,062,126	R447Q	probably damaging	Het
Inpp4b	C	T	8: 81,770,833	T94M	probably damaging	Het
Itga2	A	G	13: 114,869,250	Y465H	probably damaging	Het
Knl1	A	G	2: 119,070,286	T823A	probably damaging	Het
Krtap4-16	A	G	11: 99,851,035	S180P	unknown	Het
Lpar6	A	T	14: 73,238,857	D86V	probably damaging	Het
Muc5ac	C	A	7: 141,816,864	C2500*	probably null	Het
Mzf1	T	C	7: 13,053,369		probably benign	Het
Olfr1032	G	T	2: 86,008,099	V108L	possibly damaging	Het
Olfr1176	T	A	2: 88,339,658	I31N	probably benign	Het
Olfr1311	A	C	2: 112,021,260	M198R	possibly damaging	Het
Olfr1352	T	C	10: 78,984,279	V163A	probably benign	Het
Otogl	T	G	10: 107,790,500	E1501A	probably damaging	Het
Pcdh10	T	A	3: 45,381,554	S768T	possibly damaging	Het
Pcnx2	G	T	8: 125,877,586	Q644K	probably damaging	Het
Pdzd9	T	A	7: 120,660,226	I180F	possibly damaging	Het
Pinx1	A	C	14: 63,878,172	N152T	probably benign	Het
Prr14l	T	C	5: 32,830,264	E629G	probably benign	Het
Qpctl	T	A	7: 19,148,420	I104F	probably benign	Het
Rabep1	C	T	11: 70,917,679	A444V	probably damaging	Het
Rnf150	A	G	8: 82,990,554	Y230C	probably damaging	Het
Slc25a27	A	C	17: 43,657,730	V152G	probably damaging	Het
Swt1	A	G	1: 151,384,333	S772P	possibly damaging	Het
Tenm4	A	G	7: 96,874,494	T1711A	probably benign	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Tmem265	T	G	7: 127,564,872	V86G	possibly damaging	Het
Trpm8	C	T	1: 88,348,332	H551Y	probably benign	Het
Ttc6	T	G	12: 57,702,262	Y1327D	possibly damaging	Het
Uevld	G	T	7: 46,937,981	Q324K	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r73	C	T	7: 85,871,841	M306I	probably benign	Het
Vmn2r93	T	A	17: 18,304,104	M120K	probably benign	Het
Zfp804b	T	A	5: 6,769,908	I1016F	probably benign	Het
Zfp90	T	C	8: 106,425,394	C580R	probably damaging	Het

Other mutations in Gm853

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Gm853	APN	4	130221725	missense	probably benign	0.01
IGL01485:Gm853	APN	4	130215425	missense	probably benign	0.02
1mM(1):Gm853	UTSW	4	130216581	missense	probably benign	0.04
PIT4382001:Gm853	UTSW	4	130219161	missense	possibly damaging	0.94
R0762:Gm853	UTSW	4	130221624	missense	probably damaging	0.98
R0846:Gm853	UTSW	4	130221624	missense	probably benign	0.10
R1070:Gm853	UTSW	4	130219156	missense	probably benign	0.14
R1918:Gm853	UTSW	4	130211393	missense	probably benign
R2117:Gm853	UTSW	4	130215363	missense	possibly damaging	0.53
R2566:Gm853	UTSW	4	130209888	missense	probably benign	0.14
R4110:Gm853	UTSW	4	130219174	missense	probably damaging	0.99
R5033:Gm853	UTSW	4	130221615	critical splice donor site	probably null
R5658:Gm853	UTSW	4	130220441	missense	probably benign	0.00
R5751:Gm853	UTSW	4	130220441	missense	probably benign	0.05
R6993:Gm853	UTSW	4	130218313	missense	probably damaging	1.00
R7224:Gm853	UTSW	4	130219199	missense	probably damaging	1.00
R7773:Gm853	UTSW	4	130220376	missense	probably damaging	1.00
R8254:Gm853	UTSW	4	130220343	missense	probably benign	0.06
R8329:Gm853	UTSW	4	130215363	missense	possibly damaging	0.86
R8888:Gm853	UTSW	4	130211430	missense	probably benign	0.09
R8895:Gm853	UTSW	4	130211430	missense	probably benign	0.09
R9262:Gm853	UTSW	4	130220360	missense	possibly damaging	0.48
R9680:Gm853	UTSW	4	130221734	missense	probably benign
Z1176:Gm853	UTSW	4	130221704	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGCAGCAGTAATGACCAG -3'
(R):5'- TGCTTGTCATCTGCCATCAG -3'

Sequencing Primer
(F):5'- GCAGCAGTAATGACCAGTAATG -3'
(R):5'- GCTATCAGCGGTCTACTATAAAGC -3'

Posted On

2018-03-15