Mutagenetix > Incidental Mutations

Incidental Mutation 'R7446:Gm5591'

577292

Institutional Source

Beutler Lab

Gene Symbol

Gm5591

Ensembl Gene

ENSMUSG00000060565

Gene Name

predicted gene 5591

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R7446 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

38518139-38528193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38519509 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 647 (E647K)

Ref Sequence

ENSEMBL: ENSMUSP00000078695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079759]

Predicted Effect

probably benign
Transcript: ENSMUST00000079759
AA Change: E647K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: E647K

Domain	Start	End	E-Value	Type
low complexity region	319	330	N/A	INTRINSIC
Pfam:DUF4629	437	582	1.2e-59	PFAM
low complexity region	648	660	N/A	INTRINSIC
low complexity region	693	704	N/A	INTRINSIC
low complexity region	711	723	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,232,080	D2460G	probably damaging	Het
4930407I10Rik	A	G	15: 82,066,240	D1446G	probably benign	Het
Adgrg1	A	G	8: 95,011,784	Y635C	probably damaging	Het
Akr1cl	G	A	1: 65,016,678	R222W	probably damaging	Het
C2	G	A	17: 34,876,010	R250C	probably damaging	Het
Cdk15	A	G	1: 59,289,695	Y254C	probably damaging	Het
Celsr1	T	C	15: 85,907,673	T2576A	possibly damaging	Het
Cfap61	C	T	2: 146,153,838	R1108C	probably benign	Het
Clca1	A	G	3: 145,027,427	S107P	possibly damaging	Het
Cpsf1	A	G	15: 76,601,750	S407P	probably benign	Het
Crisp4	T	C	1: 18,122,738	T252A	probably damaging	Het
Ctbs	A	G	3: 146,458,818	Y242C	probably damaging	Het
Cul4a	A	G	8: 13,136,874	T537A	probably benign	Het
D930020B18Rik	T	C	10: 121,667,745	I275T	possibly damaging	Het
Dcaf7	T	C	11: 106,053,735	V248A	probably benign	Het
Def8	T	C	8: 123,454,322	C153R	probably damaging	Het
Dennd1a	A	T	2: 37,816,979	V505D	possibly damaging	Het
Dpysl5	A	C	5: 30,778,887	D207A	probably benign	Het
Dync2h1	A	T	9: 7,041,720	S3307R	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Erf	A	T	7: 25,246,131	C72S	probably damaging	Het
Fastkd3	A	T	13: 68,591,960	H47L	unknown	Het
Gng12	TGTCCAGCAAG	TG	6: 67,015,752		probably benign	Het
Guk1	T	C	11: 59,186,024	T78A	probably benign	Het
Hephl1	T	C	9: 15,098,051	T82A	probably damaging	Het
Htra4	A	G	8: 25,037,165	S205P	probably benign	Het
Jakmip2	T	C	18: 43,577,325	D271G	probably damaging	Het
Krt16	CAGTATCTG	C	11: 100,246,784		probably null	Het
Lrp1b	T	A	2: 41,671,057	E286V		Het
Lrp2	C	A	2: 69,432,213	G4415W	probably damaging	Het
Lrp2	C	T	2: 69,459,674	R3607H	probably damaging	Het
Mcph1	A	G	8: 18,671,093	K646E	probably benign	Het
Mgam	T	C	6: 40,746,332	L457P	probably damaging	Het
Mink1	T	A	11: 70,609,629	S802T	probably benign	Het
Mrgprb5	C	T	7: 48,168,504	G161E	possibly damaging	Het
Mroh1	G	A	15: 76,452,272	G1565D	possibly damaging	Het
Mynn	A	G	3: 30,607,052	K51R	probably benign	Het
Myo1b	A	G	1: 51,763,906	F872S	possibly damaging	Het
Nbas	A	T	12: 13,393,498	T1185S	probably benign	Het
Oas1d	A	T	5: 120,919,991	I333L	probably benign	Het
Olfr1331	A	T	4: 118,868,822	I14F	possibly damaging	Het
Olfr1425	A	G	19: 12,073,697	*312Q	probably null	Het
P2ry12	A	G	3: 59,217,211	*348Q	probably null	Het
Pik3cb	A	T	9: 99,046,658	V848E	probably damaging	Het
Plcz1	A	C	6: 140,013,586	S282A	possibly damaging	Het
Prss46	A	G	9: 110,850,121	D130G	probably damaging	Het
Pygl	T	C	12: 70,197,010	I644V	probably benign	Het
Ralgds	T	A	2: 28,545,889	S509T	probably damaging	Het
Rdh16f2	A	G	10: 127,876,898	D255G	probably benign	Het
Scaf4	T	C	16: 90,258,770	D133G	unknown	Het
Sdk1	G	A	5: 142,144,976	S1630N	probably damaging	Het
Sema5b	C	T	16: 35,647,203	T279I	probably damaging	Het
Slc24a3	T	A	2: 145,580,982	L207H	probably damaging	Het
Speer2	A	T	16: 69,858,077	S167T	possibly damaging	Het
Spock1	A	G	13: 57,436,085	I339T	unknown	Het
Srsf6	T	A	2: 162,934,716	S327T	unknown	Het
Syne1	T	A	10: 5,222,266	E5058D	probably benign	Het
Tcf19	A	G	17: 35,514,531	V243A	probably benign	Het
Tspan15	T	C	10: 62,193,955	D122G	probably benign	Het
Ttc17	C	T	2: 94,375,150	V284M	probably damaging	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Uspl1	T	A	5: 149,204,272	C360*	probably null	Het
Vmn1r181	A	C	7: 23,984,931	S274R	probably benign	Het
Xrcc5	T	C	1: 72,393,973		probably null	Het
Zfp277	C	T	12: 40,328,730	R376H	probably damaging	Het
Zfp629	T	C	7: 127,611,029	E536G	probably benign	Het

Other mutations in Gm5591

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm5591	APN	7	38520414	missense	probably benign	0.20
IGL02277:Gm5591	APN	7	38520432	missense	probably damaging	0.98
IGL02277:Gm5591	APN	7	38519038	missense	possibly damaging	0.92
IGL02503:Gm5591	APN	7	38520009	missense	probably damaging	1.00
IGL02897:Gm5591	APN	7	38520042	missense	probably damaging	1.00
IGL02899:Gm5591	APN	7	38519418	missense	probably damaging	1.00
R1599:Gm5591	UTSW	7	38520370	missense	probably benign
R2365:Gm5591	UTSW	7	38519401	missense	probably damaging	1.00
R3054:Gm5591	UTSW	7	38520634	missense	probably benign	0.35
R4619:Gm5591	UTSW	7	38520648	missense	probably benign	0.04
R4722:Gm5591	UTSW	7	38519148	missense	probably damaging	1.00
R4779:Gm5591	UTSW	7	38522256	missense	probably damaging	0.96
R5079:Gm5591	UTSW	7	38522136	missense	probably benign	0.01
R5237:Gm5591	UTSW	7	38522207	missense	probably benign	0.31
R5267:Gm5591	UTSW	7	38518914	missense	possibly damaging	0.94
R6337:Gm5591	UTSW	7	38521895	missense	probably benign	0.00
R6458:Gm5591	UTSW	7	38519035	missense	probably damaging	1.00
R6671:Gm5591	UTSW	7	38520099	missense	possibly damaging	0.71
R6709:Gm5591	UTSW	7	38522075	missense	probably benign	0.31
R6874:Gm5591	UTSW	7	38520291	missense	probably damaging	0.97
R6917:Gm5591	UTSW	7	38522190	missense	probably damaging	0.99
R6993:Gm5591	UTSW	7	38519223	missense	probably benign
R7519:Gm5591	UTSW	7	38520670	missense	possibly damaging	0.70
R7596:Gm5591	UTSW	7	38520184	missense	probably benign
R7923:Gm5591	UTSW	7	38521914	missense	probably benign	0.13
R8003:Gm5591	UTSW	7	38519759	missense	probably damaging	0.96
R8027:Gm5591	UTSW	7	38522298	missense	probably damaging	0.99
R8058:Gm5591	UTSW	7	38518939	missense	probably benign	0.00
R8242:Gm5591	UTSW	7	38520322	missense	probably benign
RF052:Gm5591	UTSW	7	38522575	frame shift	probably null
RF062:Gm5591	UTSW	7	38522335	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGGAGGAGCTGAATTGGC -3'
(R):5'- AAACTGGCATCTCTTCCTTCGG -3'

Sequencing Primer
(F):5'- GCCATCAGAGATGTGCTGAC -3'
(R):5'- CTTCCTTCGGGGGTCTGAGAAC -3'

Posted On

2019-10-07