Mutagenetix > Incidental Mutations

Incidental Mutation 'R6776:Gm5592'

531292

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: 0.061) question?

Stock #

R6776 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41153841-41290183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 41289729 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 812 (P812A)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000097044
AA Change: P812A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: P812A

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

probably damaging
Transcript: ENSMUST00000206490
AA Change: P812A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	C	A	1: 43,742,391	N144K	probably damaging	Het
2900011O08Rik	T	A	16: 13,986,806	S6T	possibly damaging	Het
Abhd13	A	G	8: 9,988,075	H224R	probably benign	Het
Anapc10	T	C	8: 79,719,745	F68S	probably damaging	Het
Arid2	A	G	15: 96,370,949	N981S	probably benign	Het
BC055324	T	C	1: 163,976,749	I338M	probably damaging	Het
Cfap73	A	G	5: 120,634,211	F9L	probably damaging	Het
Chd3	A	C	11: 69,354,470	L1141V	probably damaging	Het
Daam1	C	T	12: 71,989,808	L1052F	possibly damaging	Het
Dmxl1	C	T	18: 49,893,974	R2050C	probably damaging	Het
Dpp10	G	A	1: 123,367,656	Q552*	probably null	Het
Dysf	A	G	6: 84,064,894	D160G	possibly damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,965		probably benign	Het
Ftcd	T	C	10: 76,589,239	I518T	probably benign	Het
Gapdh	A	G	6: 125,162,273	S248P	probably damaging	Het
Grik2	G	A	10: 49,355,989	L482F	probably damaging	Het
Gzmg	C	T	14: 56,156,831	G202D	probably damaging	Het
Hectd4	G	A	5: 121,353,511	A3671T	possibly damaging	Het
Hexa	G	T	9: 59,558,072	W203C	probably damaging	Het
Igdcc4	A	T	9: 65,135,418	T1217S	probably benign	Het
Ipo7	A	G	7: 110,047,065	D557G	probably damaging	Het
Irx3	T	A	8: 91,799,835	T414S	probably benign	Het
Jakmip1	G	A	5: 37,187,154	E1313K	probably damaging	Het
Kbtbd12	T	C	6: 88,618,266	D194G	probably damaging	Het
Klk6	T	C	7: 43,826,874	L46P	probably damaging	Het
Krt86	T	C	15: 101,476,936	I329T	probably benign	Het
Mroh5	A	G	15: 73,789,968		probably null	Het
Mtrf1	T	C	14: 79,413,081	V323A	probably damaging	Het
Oas3	A	T	5: 120,758,874	I894N	probably damaging	Het
Oplah	C	T	15: 76,300,853	V887I	possibly damaging	Het
Pag1	T	C	3: 9,699,788	T102A	probably benign	Het
Pcnx	C	T	12: 81,962,722	A1181V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,309	Y1475*	probably null	Het
Pla2g5	A	G	4: 138,800,653	S101P	probably benign	Het
Plekha4	C	A	7: 45,534,817	A76E	probably damaging	Het
Plk2	T	C	13: 110,399,791	I592T	probably benign	Het
Ppp2r3a	A	T	9: 101,212,862	H87Q	probably benign	Het
Ppp2r3c	T	A	12: 55,298,467	R79*	probably null	Het
Prpf40b	C	T	15: 99,314,903	R627W	probably damaging	Het
Prrt4	G	T	6: 29,176,552	T258K	possibly damaging	Het
Rhpn2	T	A	7: 35,383,769		probably null	Het
Slc11a1	T	A	1: 74,384,085	I365N	probably damaging	Het
Slc7a7	C	T	14: 54,374,651	G265D	possibly damaging	Het
Thsd7a	T	A	6: 12,555,637	T83S	possibly damaging	Het
Tln2	A	G	9: 67,262,905	S1989P	probably damaging	Het
Tnfaip3	T	G	10: 19,005,576	T321P	probably benign	Het
Tnrc6b	C	T	15: 80,924,119	P1623L	possibly damaging	Het
Trpa1	T	C	1: 14,912,377	N85S	probably benign	Het
Trrap	C	T	5: 144,851,256	R3544*	probably null	Het
Ttf2	A	T	3: 100,952,553	V695E	probably benign	Het
Ttll4	A	G	1: 74,681,353	E509G	probably damaging	Het
Vdr	T	C	15: 97,869,828	I94V	probably damaging	Het
Wdfy3	G	T	5: 101,884,045	Q2304K	possibly damaging	Het
Zfp663	T	C	2: 165,359,015	Y33C	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
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
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
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'- GTCTAGTGCTGTGCCCCATTTG -3'
(R):5'- AGCACTTTGTTGCAATGATCTGG -3'

Sequencing Primer
(F):5'- ATTTGGTCACCTCGAGGCCTG -3'
(R):5'- GCAATGATCTGGCAAGCTGTTAC -3'

Posted On

2018-08-29