Mutagenetix > Incidental Mutations

Incidental Mutation 'R3856:Gm5592'

276162

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

040902-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3856 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 41157835 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

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

AlphaFold

Q3V0A6

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108009

SMART Domains

Protein: ENSMUSP00000103644
Gene: ENSMUSG00000078737

Domain	Start	End	E-Value	Type
Pfam:DUF4629	425	524	5.6e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably benign
Transcript: ENSMUST00000206490

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.7%
20x: 92.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,055,446	S469P	possibly damaging	Het
Adgrf5	A	T	17: 43,447,036	N787I	possibly damaging	Het
Ank2	T	C	3: 126,929,844	T945A	probably benign	Het
Aox4	T	A	1: 58,253,934	I863N	probably damaging	Het
Ap3d1	A	G	10: 80,712,185	I891T	probably benign	Het
Apex1	A	G	14: 50,926,257	T109A	probably benign	Het
Arhgef1	G	A	7: 24,919,272	G107S	probably damaging	Het
Atxn7l1	A	G	12: 33,367,600	T587A	probably damaging	Het
Atxn7l3	T	C	11: 102,293,903	D128G	probably damaging	Het
Cacna1h	T	C	17: 25,392,453	Y457C	probably damaging	Het
Ccdc60	A	C	5: 116,172,455	C183G	probably damaging	Het
Cep131	G	A	11: 120,067,185	R772*	probably null	Het
Cnst	C	T	1: 179,579,714	P109S	probably benign	Het
Crtc2	G	T	3: 90,262,570	L509F	probably damaging	Het
Ctsr	A	T	13: 61,161,936	I153N	possibly damaging	Het
Dffa	A	T	4: 149,104,251	M1L	possibly damaging	Het
Dnajc16	G	A	4: 141,763,653	R729*	probably null	Het
Eef2k	T	A	7: 120,899,371	C91*	probably null	Het
Eml5	T	C	12: 98,816,024	D1336G	probably damaging	Het
F12	G	A	13: 55,421,222		probably null	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Fbxo40	A	T	16: 36,969,083	L555Q	probably damaging	Het
Frmpd1	T	C	4: 45,283,698	S840P	probably damaging	Het
Gadd45a	C	T	6: 67,037,005		probably null	Het
Galnt7	T	C	8: 57,532,624		probably benign	Het
Gpr171	T	C	3: 59,098,085	T90A	probably damaging	Het
Gpr82	A	T	X: 13,665,338	T42S	probably benign	Het
H2-M10.6	T	A	17: 36,812,504	I30N	probably benign	Het
Hk2	T	C	6: 82,736,676	E447G	possibly damaging	Het
Hspa4l	C	A	3: 40,785,389	H698Q	probably benign	Het
Idi1	G	T	13: 8,885,932	A25S	probably benign	Het
Kdm4a	C	T	4: 118,153,231	R605H	probably damaging	Het
Nhlrc2	T	C	19: 56,588,271		probably null	Het
Nt5c2	A	G	19: 46,896,518	V252A	probably damaging	Het
Olfr608	T	A	7: 103,470,660	V207E	probably damaging	Het
Pbp2	A	G	6: 135,310,145	L68P	probably benign	Het
Pcnx3	G	T	19: 5,678,967	T547K	probably benign	Het
Ppp1r12a	T	C	10: 108,253,501		probably benign	Het
Prmt9	G	A	8: 77,568,265	V413I	probably benign	Het
Pudp	T	C	18: 50,568,053	N203S	probably benign	Het
Rnf213	T	C	11: 119,480,939		probably benign	Het
Sall3	G	A	18: 80,972,502	T737M	probably damaging	Het
Scn2b	A	G	9: 45,125,461	N89S	possibly damaging	Het
Sgsm1	A	G	5: 113,263,259	V580A	probably benign	Het
Slc13a4	C	A	6: 35,271,604		probably null	Het
Slc4a4	A	C	5: 89,232,839	S1015R	probably benign	Het
Slc8a1	T	C	17: 81,648,374	T412A	probably benign	Het
Spag17	A	T	3: 100,106,759	D2116V	probably damaging	Het
Trim55	T	C	3: 19,672,956	F396L	probably benign	Het
Usp54	C	A	14: 20,588,420	M197I	probably damaging	Het
Vmn1r189	A	T	13: 22,102,269	F133I	possibly damaging	Het
Zfp735	T	C	11: 73,711,456	S409P	probably benign	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
R1731:Gm5592	UTSW	7	41288413	missense	probably damaging	0.99
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
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
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'- TTCAGAGTTCCTGGCCTTGC -3'
(R):5'- GTTCTTCCTCACCTGGTCAGAG -3'

Sequencing Primer
(F):5'- TTCCAGCTCCAAGCCTGG -3'
(R):5'- TGGTCAGAGGGGCCACTG -3'

Posted On

2015-04-06