Mutagenetix > Incidental Mutation

Incidental Mutation 'R5075:Gm5592'

386928

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

MMRRC Submission

042664-MU

Accession Numbers

Essential gene?

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

Stock #

R5075 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 40808387 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: ENSMUST00000191554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206040

Predicted Effect

probably benign
Transcript: ENSMUST00000206490

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,587,456 (GRCm39)	F33S	probably damaging	Het
Atf7ip	A	G	6: 136,537,232 (GRCm39)	D163G	probably benign	Het
Cep85	C	A	4: 133,859,678 (GRCm39)	D662Y	probably damaging	Het
Cntn6	T	A	6: 104,809,991 (GRCm39)	S558T	probably damaging	Het
Dnah8	T	C	17: 30,958,731 (GRCm39)		probably null	Het
Dnah8	T	A	17: 31,019,505 (GRCm39)	N3859K	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dnajc21	G	T	15: 10,461,963 (GRCm39)	T146K	probably benign	Het
Ep400	T	C	5: 110,833,351 (GRCm39)	E1957G	unknown	Het
Esm1	A	G	13: 113,349,892 (GRCm39)	Y104C	probably damaging	Het
Fkbp15	T	C	4: 62,239,266 (GRCm39)	K613R	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Hdac4	A	G	1: 91,923,842 (GRCm39)	S223P	probably benign	Het
Hypk	A	G	2: 121,286,111 (GRCm39)		probably benign	Het
Kpna1	T	A	16: 35,829,722 (GRCm39)	F70I	probably damaging	Het
Lrp2	A	G	2: 69,296,102 (GRCm39)	Y3336H	probably benign	Het
Mier1	A	G	4: 102,996,670 (GRCm39)	D99G	probably benign	Het
Muc4	T	C	16: 32,754,794 (GRCm38)		probably benign	Het
Nup160	A	G	2: 90,530,518 (GRCm39)	E463G	probably damaging	Het
Or5b121	T	A	19: 13,507,637 (GRCm39)	M244K	probably benign	Het
Peg3	A	T	7: 6,711,419 (GRCm39)	C1268S	probably damaging	Het
Recql4	G	A	15: 76,593,744 (GRCm39)	P122L	probably damaging	Het
Rex2	A	T	4: 147,142,151 (GRCm39)	Q213L	possibly damaging	Het
Rnf25	A	G	1: 74,634,803 (GRCm39)	V73A	probably benign	Het
Sacm1l	A	G	9: 123,411,327 (GRCm39)	D372G	probably benign	Het
Selplg	T	C	5: 113,958,045 (GRCm39)	D87G	probably benign	Het
Sgsh	G	A	11: 119,237,594 (GRCm39)	T340M	probably benign	Het
Slc4a3	A	T	1: 75,534,012 (GRCm39)	I1120F	probably damaging	Het
Snrnp40	T	C	4: 130,282,375 (GRCm39)	Y311H	probably benign	Het
Spata31e2	T	C	1: 26,722,133 (GRCm39)	K1016E	probably damaging	Het
Stard7	A	T	2: 127,111,879 (GRCm39)		probably benign	Het
Stat1	A	T	1: 52,161,871 (GRCm39)	K40M	possibly damaging	Het
Sun1	T	C	5: 139,212,646 (GRCm39)		probably null	Het
Tet2	T	A	3: 133,192,667 (GRCm39)	Q589L	probably benign	Het
Tmc7	A	T	7: 118,151,919 (GRCm39)		probably null	Het
Tmt1b	A	G	10: 128,796,549 (GRCm39)	F87L	probably damaging	Het
Unc79	A	T	12: 103,041,213 (GRCm39)	I749F	possibly damaging	Het
Ust	A	G	10: 8,393,988 (GRCm39)	F59S	probably damaging	Het
Wdr81	A	T	11: 75,343,307 (GRCm39)	D653E	probably benign	Het
Zfat	A	G	15: 68,052,079 (GRCm39)	S572P	probably benign	Het
Zmynd15	G	C	11: 70,352,946 (GRCm39)	E143D	probably damaging	Het
Zzef1	A	G	11: 72,749,170 (GRCm39)	E886G	probably 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
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
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'- AGTTTACCCTGTGCAGCCTC -3'
(R):5'- TTGAGCACGCCTCTTCATG -3'

Sequencing Primer
(F):5'- GTGCAGCCTCACTCTCACTCAG -3'
(R):5'- ATGGCTTCCCTCTCTGGC -3'

Posted On

2016-06-06