Mutagenetix > Incidental Mutations

Incidental Mutation 'R4010:Gm5592'

311640

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

040947-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4010 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41286628 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 185 (H185Y)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

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

AlphaFold

Q3V0A6

Predicted Effect

probably benign
Transcript: ENSMUST00000097044
AA Change: H185Y

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: H185Y

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 benign
Transcript: ENSMUST00000206490
AA Change: H185Y

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	C	5: 87,972,277	S298P	probably damaging	Het
Abca13	G	A	11: 9,622,013		probably benign	Het
Abcc2	A	G	19: 43,829,864	N1263S	possibly damaging	Het
Acss2	T	A	2: 155,557,628	L529Q	probably damaging	Het
Adamts12	A	G	15: 11,286,083	T793A	possibly damaging	Het
Adsl	T	C	15: 80,966,156	S359P	probably benign	Het
Ddx60	A	T	8: 61,954,535	D360V	possibly damaging	Het
Ddx60	A	T	8: 61,956,144	M405L	probably benign	Het
Frmd6	A	G	12: 70,899,553	N585S	probably benign	Het
Fxr1	G	T	3: 34,065,022	R580L	probably benign	Het
Ggt7	G	A	2: 155,500,732	T358M	probably benign	Het
Gm2000	T	C	1: 156,366,154	V26A	probably benign	Het
Gm5435	G	A	12: 82,496,315		noncoding transcript	Het
Ifit2	G	T	19: 34,574,045	M328I	probably benign	Het
Itgae	T	A	11: 73,111,339	C90S	probably benign	Het
Kif1a	G	A	1: 93,022,409	S1424F	probably benign	Het
Map2k2	T	C	10: 81,108,935	S94P	probably damaging	Het
Marveld2	C	A	13: 100,611,428		probably null	Het
Olfr512	A	T	7: 108,714,159	I269L	probably benign	Het
Pdcl	T	C	2: 37,352,111	Y209C	probably damaging	Het
Pde6c	A	G	19: 38,169,436	E636G	probably damaging	Het
Pggt1b	A	G	18: 46,248,936	Y260H	possibly damaging	Het
Pkhd1l1	T	A	15: 44,529,100	S1610R	possibly damaging	Het
Rel	C	T	11: 23,761,138	V10I	probably benign	Het
Rpa2	T	A	4: 132,770,649		probably null	Het
Rpain	T	G	11: 70,973,007		probably benign	Het
Ryr1	T	C	7: 29,095,124	T1237A	probably benign	Het
Safb	T	C	17: 56,603,765		probably benign	Het
Serpina3a	A	T	12: 104,118,643	D99V	probably benign	Het
Setd2	A	G	9: 110,599,195	Q2320R	probably null	Het
Sh2d4a	C	T	8: 68,335,147	R302C	probably damaging	Het
Slc19a2	T	G	1: 164,260,882	S300A	probably damaging	Het
Slc30a5	G	A	13: 100,809,233	A537V	probably damaging	Het
Strip2	A	G	6: 29,955,585	I717V	possibly damaging	Het
Supt16	A	C	14: 52,164,441	F924C	probably damaging	Het
Tekt4	T	G	17: 25,476,486	M431R	probably damaging	Het
Trim23	A	G	13: 104,181,018		probably benign	Het
Tspear	T	C	10: 77,836,476		probably benign	Het
Usp39	C	A	6: 72,336,485	A241S	probably benign	Het
Vmn1r185	T	A	7: 26,612,025	L18F	possibly damaging	Het
Zfp213	T	C	17: 23,558,090	H326R	possibly damaging	Het
Zfp354c	T	A	11: 50,814,944	I435F	probably damaging	Het
Zfp618	G	A	4: 63,133,564	A861T	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
R3856:Gm5592	UTSW	7	41157835	intron	probably benign
R4009:Gm5592	UTSW	7	41289510	missense	probably benign	0.01
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'- TGGCTGTGACAAACCAGAGTG -3'
(R):5'- TCCTGGATCTGTACTCACCG -3'

Sequencing Primer
(F):5'- ACCAGAGTGATAAAATTTTAGATCCC -3'
(R):5'- GATCTGTACTCACCGGGAAGAC -3'

Posted On

2015-04-29