Mutagenetix > Incidental Mutations

Incidental Mutation 'R8070:Gm5592'

620232

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R8070 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41286463 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 130 (A130T)

Ref Sequence

ENSEMBL: ENSMUSP00000094809 (fasta)

Gene Model

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

AlphaFold

Q3V0A6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097044
AA Change: A130T

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: A130T

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

possibly damaging
Transcript: ENSMUST00000206490
AA Change: A130T

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	A	G	5: 63,898,167	E82G	probably benign	Het
9830107B12Rik	A	G	17: 48,145,510	F86S	probably damaging	Het
Aamdc	A	T	7: 97,575,648	Y2*	probably null	Het
Acta1	T	A	8: 123,893,621	D26V	possibly damaging	Het
Adra1d	A	C	2: 131,561,582	L196R	probably damaging	Het
Agbl2	G	A	2: 90,791,565	C132Y	probably benign	Het
Amd1	A	G	10: 40,294,230	V92A	probably benign	Het
Arid4b	T	A	13: 14,136,259	I149K	probably benign	Het
Atg7	A	G	6: 114,697,080	M312V	probably benign	Het
Bap1	T	A	14: 31,256,686	V381E	probably damaging	Het
Cbfa2t3	C	T	8: 122,642,981	V207I	possibly damaging	Het
Cdh24	T	C	14: 54,632,573	Q629R	probably benign	Het
Cdhr2	G	T	13: 54,719,793	V479L	probably benign	Het
Chd2	A	G	7: 73,451,758	S1407P	probably benign	Het
Clstn2	A	G	9: 97,799,470	V39A	possibly damaging	Het
Cwh43	T	A	5: 73,421,463	M357K	possibly damaging	Het
Dcdc2a	T	A	13: 25,202,197	D351E	probably benign	Het
Dennd6b	T	C	15: 89,185,373	I517V	probably benign	Het
Dnah17	T	C	11: 118,024,671	E4374G	probably damaging	Het
Emsy	A	G	7: 98,626,715	S336P	possibly damaging	Het
Enoph1	A	T	5: 100,060,982	E65D	probably benign	Het
Fam83f	T	A	15: 80,672,080	L55Q	probably damaging	Het
Fry	T	C	5: 150,478,007	F379L		Het
Fscb	A	T	12: 64,474,608	M28K	probably benign	Het
Gas7	G	A	11: 67,683,434	V412M	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gcn1l1	T	A	5: 115,588,998	V638E	probably benign	Het
Ggt1	A	T	10: 75,578,899	I184F	probably damaging	Het
Gigyf2	A	G	1: 87,440,907	N1103S	probably benign	Het
Gm13757	G	T	2: 88,446,659	T93K	probably benign	Het
Gys2	T	C	6: 142,448,504		probably null	Het
Hmcn1	C	A	1: 150,649,992	E3327*	probably null	Het
Ighv1-36	C	T	12: 114,880,036	G68E	probably damaging	Het
Igkv6-32	G	A	6: 70,074,105	T89M	probably damaging	Het
Ipo7	A	G	7: 110,052,807	D931G	probably benign	Het
Jakmip1	A	G	5: 37,173,287	E437G	probably benign	Het
Lingo3	C	T	10: 80,836,121		probably benign	Het
Lnpep	A	G	17: 17,538,638	S815P	probably damaging	Het
Ly6a	T	C	15: 74,997,600	D2G	probably damaging	Het
Madd	C	A	2: 91,158,014	E1223*	probably null	Het
Mapk8ip3	A	T	17: 24,901,104		probably null	Het
Mecom	T	C	3: 29,979,838	E239G	probably damaging	Het
Mug1	T	C	6: 121,875,879	V889A	probably benign	Het
Myo18b	T	A	5: 112,791,120	N1675I	probably benign	Het
Ndrg4	T	C	8: 95,700,128	F50L	possibly damaging	Het
Ndst4	A	G	3: 125,714,644	Y286C	probably damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfm3	A	G	3: 115,101,955	D195G	probably damaging	Het
Olfr1384	A	T	11: 49,514,114	T159S	probably damaging	Het
Pds5a	A	G	5: 65,652,398	L407P	possibly damaging	Het
Pgm1	A	G	5: 64,112,082	N504S	probably benign	Het
Plce1	A	G	19: 38,701,839	M656V	probably damaging	Het
Pou6f2	T	C	13: 18,239,624	T189A	unknown	Het
Ppp1r12b	T	C	1: 134,876,069	S451G	probably benign	Het
Prox1	T	G	1: 190,160,910	N446T	probably damaging	Het
Ralgapa2	T	A	2: 146,353,279	R1195S	probably damaging	Het
Rere	A	G	4: 150,617,375	D37G	probably damaging	Het
Tfip11	T	A	5: 112,334,930	M560K	possibly damaging	Het
Thop1	T	C	10: 81,079,486	V260A	probably damaging	Het
Tle6	A	G	10: 81,598,642	M41T	possibly damaging	Het
Trav13-4-dv7	T	C	14: 53,757,792	S68P	possibly damaging	Het
Trim24	A	G	6: 37,957,726	N826S	probably damaging	Het
Tuba3a	T	C	6: 125,278,470	E414G	probably damaging	Het
Vmn2r78	A	G	7: 86,922,487	I502V	probably benign	Het
Vmn2r79	A	T	7: 87,002,128	Y245F	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
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
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
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'- ATCTTAACCCACATGCTGGCAC -3'
(R):5'- ATGGGCCTTCAAACACTGCC -3'

Sequencing Primer
(F):5'- GGCACAACCATGCTGACAGTG -3'
(R):5'- ATTCTCCAGCTATCAGAGGGC -3'

Posted On

2020-01-23