Mutagenetix > Incidental Mutation

Incidental Mutation 'R1731:Gm5592'

199315

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

039763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1731 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41288413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 373 (A373V)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097044] [ENSMUST00000206490]

AlphaFold

Q3V0A6

Predicted Effect

probably damaging
Transcript: ENSMUST00000097044
AA Change: A373V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: A373V

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	6.1e-60	PFAM
low complexity region	607	612	N/A	INTRINSIC
low complexity region	708	725	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably damaging
Transcript: ENSMUST00000206490
AA Change: A373V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,525,356	Y140F	probably damaging	Het
Adgrl4	T	G	3: 151,540,986	I641S	possibly damaging	Het
Aqp9	A	G	9: 71,122,968	I205T	possibly damaging	Het
Arap3	C	T	18: 37,989,912	V512I	probably benign	Het
Atf2	C	T	2: 73,845,509	G123E	probably damaging	Het
Baz1a	T	C	12: 54,918,545	D708G	possibly damaging	Het
Calcrl	A	G	2: 84,345,168		probably null	Het
Capzb	T	A	4: 139,280,030	W110R	probably damaging	Het
Casp8ap2	A	T	4: 32,641,442	N832I	possibly damaging	Het
Cecr2	T	A	6: 120,758,180	H764Q	possibly damaging	Het
Cep131	T	C	11: 120,076,916		probably null	Het
Ces2e	T	C	8: 104,929,576	V173A	probably damaging	Het
Clstn3	T	C	6: 124,431,632	D944G	probably benign	Het
Cyb5rl	C	A	4: 107,080,913	A189E	probably damaging	Het
Cyp2c40	A	G	19: 39,812,689	S41P	probably damaging	Het
D3Ertd254e	T	A	3: 36,164,471	F214L	probably benign	Het
Dscam	A	G	16: 96,819,876	L544P	probably damaging	Het
Epha2	A	G	4: 141,321,752	K640E	possibly damaging	Het
Erap1	T	A	13: 74,666,122	C8*	probably null	Het
Fat3	A	G	9: 15,995,937	V2923A	probably benign	Het
Fat4	A	T	3: 38,891,310	I1451F	probably damaging	Het
Fuk	A	T	8: 110,894,823	I163N	probably damaging	Het
Fzd6	G	A	15: 39,031,327	G296D	probably damaging	Het
Gm3486	T	A	14: 41,484,535	M194L	probably benign	Het
Gm5861	T	A	5: 11,183,113	N14K	probably damaging	Het
Hectd3	T	A	4: 116,996,455		probably null	Het
Hira	T	A	16: 18,933,014	V521E	probably benign	Het
Hsd17b6	A	G	10: 127,994,479	L141S	possibly damaging	Het
Idua	A	G	5: 108,681,672	D467G	probably benign	Het
Ikzf4	G	A	10: 128,634,532	P373L	probably benign	Het
Kcng1	T	C	2: 168,268,689	E185G	probably benign	Het
Krt84	G	A	15: 101,525,963	S523F	possibly damaging	Het
Lpcat4	T	C	2: 112,243,843	L250P	probably damaging	Het
Lrrc49	A	G	9: 60,621,631	Y281H	probably damaging	Het
Mta2	C	A	19: 8,947,724		probably null	Het
Myo15b	T	C	11: 115,891,560	I372T	possibly damaging	Het
Myocd	T	A	11: 65,200,888	N76I	probably benign	Het
Nav2	T	A	7: 49,548,174	Y1123N	probably damaging	Het
Otogl	A	T	10: 107,817,111	C1127S	probably damaging	Het
Pcdhb8	A	G	18: 37,355,838	K190E	probably damaging	Het
Pcnx	A	G	12: 81,990,704	H1918R	probably damaging	Het
Pde2a	T	A	7: 101,501,660	Y272N	probably damaging	Het
Phldb3	T	C	7: 24,619,235	V313A	probably benign	Het
Plch2	C	T	4: 155,006,994	V116I	possibly damaging	Het
Plod2	G	A	9: 92,584,604		probably null	Het
Ppfibp2	T	C	7: 107,740,589	Y730H	probably damaging	Het
Ptprh	T	C	7: 4,601,913	E44G	probably benign	Het
Rab11fip1	T	C	8: 27,152,410	E787G	probably damaging	Het
Rabep2	T	A	7: 126,444,272	L448Q	probably damaging	Het
Rbfox3	A	G	11: 118,496,936		probably null	Het
Rgma	T	C	7: 73,409,412	V88A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnf125	A	G	18: 20,977,816	T44A	probably benign	Het
Rusc2	G	T	4: 43,426,046	A1384S	probably benign	Het
Selp	T	A	1: 164,141,440	C536*	probably null	Het
Serpinb3c	G	A	1: 107,271,774	T339I	probably damaging	Het
Slc4a5	C	T	6: 83,296,635	R986C	probably damaging	Het
Slc8b1	T	C	5: 120,521,115	I208T	probably benign	Het
Sp3	G	A	2: 72,946,655	H533Y	probably damaging	Het
Tiam2	A	G	17: 3,518,423	R1615G	probably damaging	Het
Tie1	T	C	4: 118,476,263	E802G	probably damaging	Het
Tinagl1	A	G	4: 130,168,049	V164A	probably benign	Het
Vmn1r68	A	G	7: 10,527,875	Y99H	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r56	T	C	7: 12,733,045	T21A	probably benign	Het
Zfp108	C	A	7: 24,258,539	H34Q	possibly damaging	Het
Zfp456	C	T	13: 67,366,555	S344N	probably benign	Het
Zscan22	T	C	7: 12,906,980	C384R	probably damaging	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	41289095	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	41286074	splice site	probably benign
IGL01718:Gm5592	APN	7	41289193	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	41286371	nonsense	probably null
IGL02318:Gm5592	APN	7	41286788	missense	probably benign	0.37
IGL02346:Gm5592	APN	7	41289465	missense	probably damaging	0.97
IGL02904:Gm5592	APN	7	41288386	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	41286354	nonsense	probably null
R0465:Gm5592	UTSW	7	41156057	intron	probably benign
R0669:Gm5592	UTSW	7	41155830	intron	probably benign
R0675:Gm5592	UTSW	7	41289387	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	41286172	missense	probably benign
R3149:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3150:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	41288380	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	41157628	intron	probably benign
R3797:Gm5592	UTSW	7	41157835	intron	probably benign
R3854:Gm5592	UTSW	7	41157835	intron	probably benign
R3856:Gm5592	UTSW	7	41157835	intron	probably benign
R4009:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	41286628	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	41289067	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	41217778	intron	probably benign
R4289:Gm5592	UTSW	7	41158912	intron	probably benign
R4304:Gm5592	UTSW	7	41286262	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	41216118	intron	probably benign
R4408:Gm5592	UTSW	7	41286448	missense	probably benign	0.04
R4572:Gm5592	UTSW	7	41216159	intron	probably benign
R4764:Gm5592	UTSW	7	41216118	intron	probably benign
R4822:Gm5592	UTSW	7	41155890	intron	probably benign
R4836:Gm5592	UTSW	7	41215534	intron	probably benign
R4854:Gm5592	UTSW	7	41217471	intron	probably benign
R5032:Gm5592	UTSW	7	41289735	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	41158963	intron	probably benign
R5369:Gm5592	UTSW	7	41218211	intron	probably benign
R5424:Gm5592	UTSW	7	41155593	intron	probably benign
R5700:Gm5592	UTSW	7	41158579	intron	probably benign
R5741:Gm5592	UTSW	7	41289201	missense	probably benign
R5802:Gm5592	UTSW	7	41219105	intron	probably benign
R5945:Gm5592	UTSW	7	41215612	intron	probably benign
R6117:Gm5592	UTSW	7	41288464	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	41286535	missense	probably damaging	0.98
R6449:Gm5592	UTSW	7	41288586	missense	probably benign	0.09
R6571:Gm5592	UTSW	7	41288575	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	41289729	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	41286443	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	41288710	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	41286407	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	41289859	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	41286694	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	41286759	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	41286463	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	41288551	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	41288822	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	41288850	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	41289463	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	41288983	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	41286452	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	41289810	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	41288508	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	41286317	missense	probably damaging	1.00
Z1176:Gm5592	UTSW	7	41286319	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	41288681	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGTTTCCCAAATAAGGCCACCAG -3'
(R):5'- GCTTTGCCATGTTGTCAATAGCCC -3'

Sequencing Primer
(F):5'- AGTCCTTCAGAGTTCCTGGC -3'
(R):5'- AATTTGGCCTGAGGAGCCC -3'

Posted On

2014-05-23