Mutagenetix > Incidental Mutations

Incidental Mutation 'R6443:Gm5114'

519086

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39407294-39413160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 39407717 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 826 (R826L)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108017]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108017
AA Change: R826L

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: R826L

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	2.5e-65	PFAM
low complexity region	709	726	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 91.9%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdhppt	A	G	9: 4,309,357	L27P	probably damaging	Het
Actr6	T	C	10: 89,714,871	N354D	probably damaging	Het
Apbb1	T	A	7: 105,573,763	N214Y	probably damaging	Het
Bcar1	A	T	8: 111,715,338	V290E	probably damaging	Het
Ces1f	T	A	8: 93,275,365	Q45L	probably benign	Het
Ctss	A	C	3: 95,546,803	K221T	probably benign	Het
Dclre1b	T	A	3: 103,803,188	N469I	possibly damaging	Het
Dnah12	C	A	14: 26,878,051	Q3683K	probably benign	Het
Dnah8	A	G	17: 30,771,885	I3301V	probably benign	Het
Ephb4	G	A	5: 137,360,449	G298E	probably damaging	Het
Eya3	T	C	4: 132,711,927	F455L	probably damaging	Het
Fkbp5	G	T	17: 28,429,279	A112D	probably damaging	Het
Glud1	T	C	14: 34,339,927	M468T	probably benign	Het
Gramd3	G	A	18: 56,485,385	V222I	probably benign	Het
Kif1b	T	C	4: 149,192,596	M1337V	probably benign	Het
Lpin2	T	C	17: 71,241,668	S576P	probably benign	Het
Lrrc1	A	G	9: 77,434,032	F415L	probably damaging	Het
Mtmr3	A	T	11: 4,487,358	I1032K	probably damaging	Het
Nr5a1	G	A	2: 38,710,430	T75M	probably damaging	Het
Nwd1	G	A	8: 72,662,366	V141I	possibly damaging	Het
Olfr1019	T	G	2: 85,841,635	D52A	probably damaging	Het
Olfr22-ps1	A	T	11: 73,955,092	Q134L	probably benign	Het
Olfr807	C	A	10: 129,755,408	G14V	probably damaging	Het
Pla1a	T	C	16: 38,409,587		probably null	Het
Ppp1r36	A	G	12: 76,417,639	S4G	probably benign	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909		probably benign	Homo
Ryr1	A	T	7: 29,077,078	M2204K	probably damaging	Het
Ryr3	T	C	2: 112,675,933	N3428S	possibly damaging	Het
Slc6a4	A	G	11: 77,023,201	K526E	probably benign	Het
Slc9a8	G	A	2: 167,434,821	R78H	probably benign	Het
Sptbn1	T	C	11: 30,139,429	D611G	possibly damaging	Het
Sstr2	G	A	11: 113,625,254		probably null	Het
Tcf7	G	T	11: 52,253,938	T286N	probably benign	Het
Txndc5	A	G	13: 38,528,203	M69T	possibly damaging	Het
Usp48	T	A	4: 137,613,763	V358E	probably damaging	Het
Vmn2r1	T	A	3: 64,104,953	I745K	possibly damaging	Het
Zfp354b	A	G	11: 50,922,754	I448T	possibly damaging	Het
Zfp523	A	T	17: 28,201,407	T189S	probably damaging	Het

Other mutations in Gm5114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Gm5114	APN	7	39410647	splice site	probably benign
IGL01295:Gm5114	APN	7	39407817	missense	probably damaging	1.00
IGL01349:Gm5114	APN	7	39409107	missense	probably benign
IGL01633:Gm5114	APN	7	39408066	missense	probably benign
IGL01634:Gm5114	APN	7	39408647	missense	probably benign
IGL02072:Gm5114	APN	7	39411402	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39411105	missense	probably benign
FR4304:Gm5114	UTSW	7	39411106	missense	probably benign	0.00
R0034:Gm5114	UTSW	7	39408858	missense	possibly damaging	0.83
R0127:Gm5114	UTSW	7	39408456	missense	probably benign	0.00
R0328:Gm5114	UTSW	7	39408461	missense	probably damaging	1.00
R0387:Gm5114	UTSW	7	39408809	missense	probably benign	0.15
R0693:Gm5114	UTSW	7	39408764	missense	probably benign	0.00
R1006:Gm5114	UTSW	7	39409086	missense	probably damaging	1.00
R2039:Gm5114	UTSW	7	39409188	missense	probably damaging	1.00
R3433:Gm5114	UTSW	7	39409197	missense	probably benign	0.02
R3834:Gm5114	UTSW	7	39408737	missense	possibly damaging	0.69
R4320:Gm5114	UTSW	7	39407627	missense	probably damaging	1.00
R5214:Gm5114	UTSW	7	39408368	missense	probably benign	0.19
R5443:Gm5114	UTSW	7	39408865	missense	probably benign	0.00
R5471:Gm5114	UTSW	7	39409110	nonsense	probably null
R5707:Gm5114	UTSW	7	39411276	missense	probably benign	0.01
R6129:Gm5114	UTSW	7	39408600	missense	possibly damaging	0.71
R6234:Gm5114	UTSW	7	39409344	missense	probably benign	0.19
R6326:Gm5114	UTSW	7	39408155	missense	probably benign
R6530:Gm5114	UTSW	7	39408090	missense	probably damaging	1.00
R6743:Gm5114	UTSW	7	39408573	missense	probably benign	0.42
R6770:Gm5114	UTSW	7	39408543	missense	possibly damaging	0.94
R6885:Gm5114	UTSW	7	39408156	missense	probably benign	0.01
R6980:Gm5114	UTSW	7	39409200	missense	probably benign	0.01
R7100:Gm5114	UTSW	7	39408284	missense	possibly damaging	0.52
R7215:Gm5114	UTSW	7	39411371	missense	probably benign	0.02
R7254:Gm5114	UTSW	7	39408966	missense	probably benign	0.35
R7343:Gm5114	UTSW	7	39408756	missense	probably damaging	1.00
R7366:Gm5114	UTSW	7	39409344	missense	possibly damaging	0.69
R7474:Gm5114	UTSW	7	39407980	missense	probably benign	0.01
R7499:Gm5114	UTSW	7	39409065	missense	possibly damaging	0.55
R8022:Gm5114	UTSW	7	39409376	missense	probably benign
R8121:Gm5114	UTSW	7	39408128	missense	probably benign	0.15
R8201:Gm5114	UTSW	7	39410949	missense	probably damaging	0.98
R8212:Gm5114	UTSW	7	39411252	missense	probably benign	0.18
R8321:Gm5114	UTSW	7	39410849	missense	possibly damaging	0.85
Z1088:Gm5114	UTSW	7	39408447	missense	probably damaging	1.00
Z1177:Gm5114	UTSW	7	39409326	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTAGCCAACTTAGCATTATATGGC -3'
(R):5'- GCCAGGAACAAGGTACCATC -3'

Sequencing Primer
(F):5'- AGTCTTCTATATTCCTGCACATGTAC -3'
(R):5'- GGTACCATCACCTCCCAAACCTC -3'

Posted On

2018-05-24