Mutagenetix > Incidental Mutation

Incidental Mutation 'R3150:Gm5592'

271628

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

040602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R3150 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40937804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 362 (E362G)

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: E362G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: E362G

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: E362G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	A	T	4: 63,313,590 (GRCm39)	S178T	possibly damaging	Het
Cabin1	A	G	10: 75,492,745 (GRCm39)	L1850P	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Ces1g	C	T	8: 94,052,444 (GRCm39)	V282I	probably benign	Het
Col4a3	T	G	1: 82,634,858 (GRCm39)		probably null	Het
Crat	C	T	2: 30,303,871 (GRCm39)		probably null	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cspg4b	A	T	13: 113,488,294 (GRCm39)	Q105H	probably damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Ddb1	T	A	19: 10,590,346 (GRCm39)	M291K	probably benign	Het
Fcgbpl1	C	A	7: 27,853,620 (GRCm39)	T1528N	probably benign	Het
Gfod2	C	T	8: 106,443,853 (GRCm39)	G230D	probably benign	Het
Git2	A	G	5: 114,868,410 (GRCm39)	S257P	probably damaging	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hjurp	A	G	1: 88,194,283 (GRCm39)		probably benign	Het
Hnrnph1	T	A	11: 50,276,619 (GRCm39)	V439E	probably benign	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Map3k20	C	T	2: 72,202,336 (GRCm39)	T189M	probably damaging	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nmral1	G	A	16: 4,534,333 (GRCm39)	T36I	probably damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or5b119	A	G	19: 13,456,824 (GRCm39)	V246A	probably damaging	Het
Or7e169	A	G	9: 19,757,510 (GRCm39)	I135T	possibly damaging	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Pkd1	G	T	17: 24,798,765 (GRCm39)	R2691L	probably benign	Het
Ppp2r2a	G	A	14: 67,261,214 (GRCm39)	R169W	probably damaging	Het
Prdm1	A	T	10: 44,334,488 (GRCm39)		probably null	Het
Robo1	C	T	16: 72,767,157 (GRCm39)	P443L	possibly damaging	Het
Rtn4	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	11: 29,643,308 (GRCm39)		probably benign	Het
Shprh	A	G	10: 11,045,774 (GRCm39)	H865R	probably damaging	Het
Spats1	A	T	17: 45,775,480 (GRCm39)	S15T	probably damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
Tie1	G	A	4: 118,333,022 (GRCm39)	A902V	probably damaging	Het
Usp22	T	C	11: 61,051,407 (GRCm39)	Q312R	probably damaging	Het
Vmn2r32	T	C	7: 7,475,554 (GRCm39)	Y443C	probably benign	Het
Vps13d	A	C	4: 144,813,360 (GRCm39)	D3274E	probably damaging	Het
Wdr62	A	T	7: 29,971,095 (GRCm39)	N167K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim7	A	T	11: 62,164,611 (GRCm39)	I43N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Gm5592

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm5592	APN	7	40,938,519 (GRCm39)	missense	probably damaging	1.00
IGL01472:Gm5592	APN	7	40,935,498 (GRCm39)	splice site	probably benign
IGL01718:Gm5592	APN	7	40,938,617 (GRCm39)	missense	probably damaging	0.99
IGL01981:Gm5592	APN	7	40,935,795 (GRCm39)	nonsense	probably null
IGL02318:Gm5592	APN	7	40,936,212 (GRCm39)	missense	probably benign	0.37
IGL02346:Gm5592	APN	7	40,938,889 (GRCm39)	missense	probably damaging	0.97
IGL02904:Gm5592	APN	7	40,937,810 (GRCm39)	missense	probably damaging	1.00
I1329:Gm5592	UTSW	7	40,935,778 (GRCm39)	nonsense	probably null
R0465:Gm5592	UTSW	7	40,805,481 (GRCm39)	intron	probably benign
R0669:Gm5592	UTSW	7	40,805,254 (GRCm39)	intron	probably benign
R0675:Gm5592	UTSW	7	40,938,811 (GRCm39)	missense	possibly damaging	0.81
R1381:Gm5592	UTSW	7	40,935,596 (GRCm39)	missense	probably benign
R1731:Gm5592	UTSW	7	40,937,837 (GRCm39)	missense	probably damaging	0.99
R3149:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3176:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3177:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3276:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3277:Gm5592	UTSW	7	40,937,804 (GRCm39)	missense	probably benign	0.00
R3623:Gm5592	UTSW	7	40,807,052 (GRCm39)	intron	probably benign
R3797:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3854:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R3856:Gm5592	UTSW	7	40,807,259 (GRCm39)	intron	probably benign
R4009:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4010:Gm5592	UTSW	7	40,936,052 (GRCm39)	missense	probably benign	0.05
R4011:Gm5592	UTSW	7	40,938,934 (GRCm39)	missense	probably benign	0.01
R4127:Gm5592	UTSW	7	40,938,491 (GRCm39)	missense	probably benign	0.00
R4162:Gm5592	UTSW	7	40,867,202 (GRCm39)	intron	probably benign
R4289:Gm5592	UTSW	7	40,808,336 (GRCm39)	intron	probably benign
R4304:Gm5592	UTSW	7	40,935,686 (GRCm39)	missense	probably benign	0.20
R4332:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4408:Gm5592	UTSW	7	40,935,872 (GRCm39)	missense	probably benign	0.04
R4572:Gm5592	UTSW	7	40,865,583 (GRCm39)	intron	probably benign
R4764:Gm5592	UTSW	7	40,865,542 (GRCm39)	intron	probably benign
R4822:Gm5592	UTSW	7	40,805,314 (GRCm39)	intron	probably benign
R4836:Gm5592	UTSW	7	40,864,958 (GRCm39)	intron	probably benign
R4854:Gm5592	UTSW	7	40,866,895 (GRCm39)	intron	probably benign
R5032:Gm5592	UTSW	7	40,939,159 (GRCm39)	missense	probably damaging	1.00
R5075:Gm5592	UTSW	7	40,808,387 (GRCm39)	intron	probably benign
R5369:Gm5592	UTSW	7	40,867,635 (GRCm39)	intron	probably benign
R5424:Gm5592	UTSW	7	40,805,017 (GRCm39)	intron	probably benign
R5700:Gm5592	UTSW	7	40,808,003 (GRCm39)	intron	probably benign
R5741:Gm5592	UTSW	7	40,938,625 (GRCm39)	missense	probably benign
R5802:Gm5592	UTSW	7	40,868,529 (GRCm39)	intron	probably benign
R5945:Gm5592	UTSW	7	40,865,036 (GRCm39)	intron	probably benign
R6117:Gm5592	UTSW	7	40,937,888 (GRCm39)	missense	probably benign	0.00
R6324:Gm5592	UTSW	7	40,935,959 (GRCm39)	missense	probably damaging	0.98
R6449:Gm5592	UTSW	7	40,938,010 (GRCm39)	missense	probably benign	0.09
R6571:Gm5592	UTSW	7	40,937,999 (GRCm39)	missense	probably damaging	0.98
R6776:Gm5592	UTSW	7	40,939,153 (GRCm39)	missense	probably damaging	1.00
R7595:Gm5592	UTSW	7	40,935,867 (GRCm39)	missense	probably damaging	0.99
R7658:Gm5592	UTSW	7	40,938,134 (GRCm39)	missense	probably benign	0.03
R7699:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7700:Gm5592	UTSW	7	40,935,831 (GRCm39)	missense	probably damaging	1.00
R7774:Gm5592	UTSW	7	40,939,283 (GRCm39)	missense	probably damaging	1.00
R7788:Gm5592	UTSW	7	40,936,118 (GRCm39)	missense	probably benign	0.01
R7890:Gm5592	UTSW	7	40,936,183 (GRCm39)	missense	probably damaging	1.00
R8070:Gm5592	UTSW	7	40,935,887 (GRCm39)	missense	possibly damaging	0.76
R8417:Gm5592	UTSW	7	40,937,975 (GRCm39)	missense	probably benign	0.38
R8866:Gm5592	UTSW	7	40,938,246 (GRCm39)	missense	possibly damaging	0.74
R9044:Gm5592	UTSW	7	40,938,274 (GRCm39)	missense	probably benign	0.25
R9057:Gm5592	UTSW	7	40,938,887 (GRCm39)	missense	possibly damaging	0.93
R9258:Gm5592	UTSW	7	40,938,407 (GRCm39)	missense	possibly damaging	0.56
R9451:Gm5592	UTSW	7	40,935,876 (GRCm39)	missense	probably damaging	0.99
R9760:Gm5592	UTSW	7	40,939,234 (GRCm39)	missense	possibly damaging	0.57
X0021:Gm5592	UTSW	7	40,937,932 (GRCm39)	missense	probably benign	0.01
Z1176:Gm5592	UTSW	7	40,938,105 (GRCm39)	missense	probably benign	0.00
Z1176:Gm5592	UTSW	7	40,935,743 (GRCm39)	missense	possibly damaging	0.94
Z1176:Gm5592	UTSW	7	40,935,741 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACAAGGCATTAACAGCC -3'
(R):5'- ACTGTCCAGGTTTCACAGGAC -3'

Sequencing Primer
(F):5'- CCCCATCCACAGTCCTTCAGAG -3'
(R):5'- GTCCAGGTTTCACAGGACTGATC -3'

Posted On

2015-03-25