Mutagenetix > Incidental Mutation

Incidental Mutation 'R3149:Gm5592'

264351

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

040601-MU

Accession Numbers

Essential gene?

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

Stock #

R3149 (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: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	A	17: 57,183,348 (GRCm39)	A30T	probably benign	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Cel	T	C	2: 28,446,143 (GRCm39)	D576G	probably benign	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dus1l	T	C	11: 120,683,930 (GRCm39)	T173A	possibly damaging	Het
Dzip1	T	C	14: 119,148,780 (GRCm39)	T300A	probably benign	Het
Ggta1	A	T	2: 35,292,635 (GRCm39)	I224N	probably damaging	Het
Gm5150	A	G	3: 16,060,479 (GRCm39)	L3P	probably damaging	Het
Gm7137	T	C	10: 77,623,839 (GRCm39)		probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hoxa13	G	T	6: 52,237,284 (GRCm39)		probably benign	Het
Ift46	A	G	9: 44,695,045 (GRCm39)	D65G	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mettl25	T	C	10: 105,662,214 (GRCm39)	D252G	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Pecam1	A	G	11: 106,575,107 (GRCm39)	V601A	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rassf9	A	T	10: 102,380,687 (GRCm39)	D21V	possibly damaging	Het
Rmnd5a	T	A	6: 71,406,085 (GRCm39)	I68L	probably benign	Het
Rock2	T	C	12: 17,015,092 (GRCm39)	S762P	probably damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Tasor2	G	A	13: 3,624,359 (GRCm39)	P1182S	probably damaging	Het
Vmn1r86	T	A	7: 12,836,358 (GRCm39)	K123*	probably null	Het
Vmn2r68	A	C	7: 84,886,875 (GRCm39)	V13G	probably benign	Het
Vps13d	G	C	4: 144,853,147 (GRCm39)	N2322K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	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
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
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'- CAGCTGTCAATGGGGACAAG -3'
(R):5'- TTCACAGGACTGATCTTGGTC -3'

Sequencing Primer
(F):5'- CTGTCAATGGGGACAAGGCATTAAC -3'
(R):5'- CACAGGACTGATCTTGGTCTATGTC -3'

Posted On

2015-02-05