Mutagenetix > Incidental Mutation

Incidental Mutation 'R3854:Gm5592'

276059

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

041605-MU

Accession Numbers

Essential gene?

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

Stock #

R3854 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 40807259 bp (GRCm39)

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: 98.8%
10x: 97.2%
20x: 94.2%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1	T	C	2: 58,352,946 (GRCm39)	K338R	probably damaging	Het
Adar	C	T	3: 89,643,565 (GRCm39)	P482L	probably damaging	Het
Adh5	A	G	3: 138,156,776 (GRCm39)	D154G	probably benign	Het
Apoa1	A	G	9: 46,141,521 (GRCm39)	S206G	probably benign	Het
Aspdh	T	C	7: 44,115,613 (GRCm39)	V5A	possibly damaging	Het
Bend3	AAGGACCA	AA	10: 43,386,713 (GRCm39)		probably benign	Het
C2cd3	A	T	7: 100,103,808 (GRCm39)		probably null	Het
Ccdc87	A	G	19: 4,889,546 (GRCm39)	I13V	probably benign	Het
Cd163	A	T	6: 124,288,525 (GRCm39)	N319Y	probably damaging	Het
Cdc42bpa	A	G	1: 179,983,543 (GRCm39)		probably benign	Het
Ceacam2	T	C	7: 25,238,227 (GRCm39)	S66G	probably benign	Het
Cep131	G	A	11: 119,958,011 (GRCm39)	R772*	probably null	Het
Clhc1	T	C	11: 29,521,789 (GRCm39)	C441R	probably damaging	Het
Clstn2	G	A	9: 97,345,648 (GRCm39)	Q567*	probably null	Het
Cops7a	C	T	6: 124,936,795 (GRCm39)	R252H	probably damaging	Het
Daam2	T	C	17: 49,765,624 (GRCm39)	N1093S	probably benign	Het
Dnajc16	G	A	4: 141,490,964 (GRCm39)	R729*	probably null	Het
Eml6	C	T	11: 29,699,905 (GRCm39)	A1744T	possibly damaging	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Fbll1	T	A	11: 35,688,526 (GRCm39)	T246S	probably benign	Het
Fbln2	A	T	6: 91,243,353 (GRCm39)	T910S	probably damaging	Het
Fcna	C	T	2: 25,517,784 (GRCm39)	G22D	possibly damaging	Het
Gadl1	G	T	9: 115,835,732 (GRCm39)	E387*	probably null	Het
Gpr82	A	T	X: 13,531,577 (GRCm39)	T42S	probably benign	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Lbr	G	A	1: 181,659,280 (GRCm39)	T167I	probably benign	Het
Mdh1	C	T	11: 21,509,281 (GRCm39)	V234I	probably benign	Het
Muc2	A	G	7: 141,308,081 (GRCm39)	H420R	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Or10z1	T	A	1: 174,077,716 (GRCm39)	Y259F	probably damaging	Het
Or1p1c	A	T	11: 74,161,105 (GRCm39)	K297*	probably null	Het
Or51r1	T	G	7: 102,228,227 (GRCm39)	L175R	probably damaging	Het
Pgap3	T	C	11: 98,281,638 (GRCm39)	T187A	possibly damaging	Het
Pus10	T	C	11: 23,653,003 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,371,765 (GRCm39)		probably benign	Het
Sag	T	C	1: 87,752,240 (GRCm39)		probably benign	Het
Serpinb9e	A	G	13: 33,439,137 (GRCm39)	I188V	probably benign	Het
Shcbp1l	A	T	1: 153,328,190 (GRCm39)	I634F	probably damaging	Het
Slc6a16	T	A	7: 44,917,596 (GRCm39)	C485S	probably damaging	Het
Vmn1r215	A	C	13: 23,260,058 (GRCm39)	M33L	probably benign	Het
Vps26c	A	G	16: 94,311,665 (GRCm39)	F95L	probably benign	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
R3150: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
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'- AGTCCTTCAGAGTTCCTGGC -3'
(R):5'- TTCTTCCTCACCTGGTCAGAGG -3'

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

Posted On

2015-04-06