Mutagenetix > Incidental Mutation

Incidental Mutation 'I1329:Gm5592'

26500

Institutional Source

Beutler Lab

Gene Symbol

Gm5592

Ensembl Gene

ENSMUSG00000072259

Gene Name

predicted gene 5592

Synonyms

Accession Numbers

Essential gene?

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

Stock #

I1329 (G1) of strain toku

Quality Score

222

Status

Validated (trace)

Chromosome

Chromosomal Location

40933751-40939607 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 40935778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 93 (Y93*)

Ref Sequence

ENSEMBL: ENSMUSP00000145899 (fasta)

Gene Model

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

AlphaFold

Q3V0A6

Predicted Effect

probably null
Transcript: ENSMUST00000097044
AA Change: Y93*

SMART Domains

Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: Y93*

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 null
Transcript: ENSMUST00000206490
AA Change: Y93*

Meta Mutation Damage Score

0.9696

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 95.2%

Validation Efficiency

89% (42/47)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	T	C	2: 26,863,631 (GRCm39)	I28T	possibly damaging	Het
Agbl4	T	A	4: 110,335,652 (GRCm39)		probably benign	Het
Aspscr1	G	C	11: 120,592,066 (GRCm39)	V268L	probably damaging	Het
Btbd10	A	G	7: 112,932,082 (GRCm39)	S115P	probably benign	Het
Cercam	T	A	2: 29,761,097 (GRCm39)	V132E	probably damaging	Het
Decr1	G	A	4: 15,930,976 (GRCm39)	R119*	probably null	Het
Dlst	T	C	12: 85,170,615 (GRCm39)	M248T	probably damaging	Het
Erbb3	T	C	10: 128,419,323 (GRCm39)	N215S	possibly damaging	Het
Flnc	G	A	6: 29,451,414 (GRCm39)	V1543M	probably damaging	Het
Garre1	A	G	7: 33,944,619 (GRCm39)	S542P	probably benign	Het
Gk5	GCC	GC	9: 96,022,682 (GRCm39)		probably null	Het
Glrb	T	A	3: 80,769,381 (GRCm39)	R115S	probably damaging	Het
Gpr20	C	T	15: 73,567,612 (GRCm39)	R259H	probably damaging	Het
Il1rap	A	G	16: 26,511,600 (GRCm39)	T215A	probably benign	Het
Ipmk	T	C	10: 71,217,277 (GRCm39)	C275R	possibly damaging	Het
Lats1	A	G	10: 7,588,566 (GRCm39)	N1061S	probably benign	Het
Nkain3	A	G	4: 20,158,329 (GRCm39)		probably benign	Het
Nr1h4	A	G	10: 89,319,224 (GRCm39)		probably benign	Het
Nr4a3	A	G	4: 48,051,585 (GRCm39)	Q142R	probably benign	Het
Otog	G	A	7: 45,895,927 (GRCm39)	V131I	probably benign	Het
Parp12	A	T	6: 39,064,505 (GRCm39)	M627K	probably damaging	Het
Pcdh9	A	G	14: 94,123,645 (GRCm39)	S842P	probably benign	Het
Phc2	G	C	4: 128,604,906 (GRCm39)	G214A	probably damaging	Het
Prpf40a	C	A	2: 53,066,407 (GRCm39)	V92L	probably benign	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rpe65	A	G	3: 159,330,360 (GRCm39)	D509G	probably benign	Het
Scin	T	A	12: 40,123,329 (GRCm39)	N518I	probably damaging	Het
Sfswap	G	T	5: 129,584,201 (GRCm39)		probably benign	Het
Tfpi	A	T	2: 84,274,460 (GRCm39)	N182K	possibly damaging	Het
Tph1	A	G	7: 46,299,437 (GRCm39)	L368P	probably damaging	Het
Ttn	T	C	2: 76,571,916 (GRCm39)	T26326A	possibly damaging	Het
Ubr1	G	A	2: 120,764,775 (GRCm39)		probably benign	Het
Usf3	G	T	16: 44,040,893 (GRCm39)	C1791F	probably damaging	Het
Vmn1r16	T	G	6: 57,300,519 (GRCm39)	R34S	probably damaging	Het
Ylpm1	C	A	12: 85,087,654 (GRCm39)	P1604Q	probably damaging	Het
Zc3h12a	A	G	4: 125,013,157 (GRCm39)	V569A	possibly damaging	Het
Zmynd8	A	G	2: 165,670,145 (GRCm39)	F488S	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
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
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'- TCTGCTGAGCAACTCCATACAGCC -3'
(R):5'- CTGCGATGGTGTGATTTGGACAAAG -3'

Sequencing Primer
(F):5'- GGAACGGTATGCAACTTTTCCAG -3'
(R):5'- TGATTTGGACAAAGCTGGAAGAC -3'

Posted On

2013-04-16