Mutagenetix > Incidental Mutation

Incidental Mutation 'R0568:Gm4553'

46265

Institutional Source

Beutler Lab

Gene Symbol

Gm4553

Ensembl Gene

ENSMUSG00000090471

Gene Name

predicted gene 4553

Synonyms

MMRRC Submission

038759-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0568 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

141718433-141719476 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 141719357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 24 (P24T)

Ref Sequence

ENSEMBL: ENSMUSP00000147863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168049] [ENSMUST00000210925]

AlphaFold

A0A1B0GSA9

Predicted Effect

unknown
Transcript: ENSMUST00000168049
AA Change: P40T

SMART Domains

Protein: ENSMUSP00000131778
Gene: ENSMUSG00000090471
AA Change: P40T

Domain	Start	End	E-Value	Type
low complexity region	18	238	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000210925
AA Change: P24T

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	G	A	4: 49,451,003 (GRCm39)	T36I	possibly damaging	Het
Adamts20	T	C	15: 94,189,594 (GRCm39)		probably benign	Het
Adamtsl1	T	C	4: 86,336,789 (GRCm39)	L1558S	probably damaging	Het
Ap3b2	A	G	7: 81,114,377 (GRCm39)		probably null	Het
Bag2	T	C	1: 33,786,059 (GRCm39)	M88V	probably benign	Het
Brms1l	A	G	12: 55,908,173 (GRCm39)		probably null	Het
C8b	A	G	4: 104,650,577 (GRCm39)	I462V	probably benign	Het
Cfap410	C	T	10: 77,818,872 (GRCm39)	T181I	possibly damaging	Het
Cfap410	A	T	10: 77,820,381 (GRCm39)	*250C	probably null	Het
Cnpy4	A	G	5: 138,190,839 (GRCm39)	E167G	probably damaging	Het
Copa	T	C	1: 171,939,704 (GRCm39)	V624A	possibly damaging	Het
Gna12	A	G	5: 140,746,638 (GRCm39)	V269A	possibly damaging	Het
Gtf2ird2	G	T	5: 134,240,083 (GRCm39)	E302*	probably null	Het
Hmcn2	C	A	2: 31,305,248 (GRCm39)	S3140R	probably benign	Het
Hspa4	A	G	11: 53,153,703 (GRCm39)		probably benign	Het
Hspbp1	A	T	7: 4,687,431 (GRCm39)	L60*	probably null	Het
Lats1	A	T	10: 7,588,292 (GRCm39)	I970F	possibly damaging	Het
Lipo3	T	C	19: 33,559,442 (GRCm39)		probably benign	Het
Lrrc3	T	A	10: 77,737,419 (GRCm39)	R6W	probably damaging	Het
Lxn	C	T	3: 67,368,335 (GRCm39)	A143T	probably damaging	Het
Mga	T	C	2: 119,765,903 (GRCm39)	I1390T	probably damaging	Het
Ncapg2	T	A	12: 116,386,835 (GRCm39)	I286N	probably damaging	Het
Or4c107	T	A	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Pitpnm2	A	G	5: 124,278,580 (GRCm39)		probably benign	Het
Plxna2	T	C	1: 194,433,694 (GRCm39)	V581A	probably benign	Het
Polr3d	A	T	14: 70,676,959 (GRCm39)	H378Q	possibly damaging	Het
Ptpn13	T	C	5: 103,637,631 (GRCm39)	V173A	probably damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Smc4	T	C	3: 68,929,794 (GRCm39)		probably null	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Syngr3	C	T	17: 24,905,555 (GRCm39)	A140T	probably benign	Het
Tent2	A	G	13: 93,291,500 (GRCm39)	S381P	probably benign	Het
Tprn	T	C	2: 25,154,333 (GRCm39)	V545A	probably damaging	Het
Trim66	T	C	7: 109,059,902 (GRCm39)	H828R	probably benign	Het
Ugt2b5	G	A	5: 87,285,224 (GRCm39)		probably benign	Het
Vps9d1	A	G	8: 123,973,487 (GRCm39)	V432A	probably damaging	Het
Zswim9	A	T	7: 12,994,952 (GRCm39)	D401E	probably damaging	Het

Other mutations in Gm4553

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00323:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00324:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00325:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00329:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00332:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00336:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00337:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00338:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00339:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL00340:Gm4553	APN	7	141,718,964 (GRCm39)	missense	unknown
IGL01348:Gm4553	APN	7	141,718,909 (GRCm39)	missense	unknown
R0468:Gm4553	UTSW	7	141,719,362 (GRCm39)	missense	unknown
R0932:Gm4553	UTSW	7	141,719,423 (GRCm39)	missense	unknown
R4988:Gm4553	UTSW	7	141,718,729 (GRCm39)	unclassified	probably benign
R5050:Gm4553	UTSW	7	141,718,773 (GRCm39)	missense	unknown
R7317:Gm4553	UTSW	7	141,719,157 (GRCm39)	small deletion	probably benign
R7372:Gm4553	UTSW	7	141,719,157 (GRCm39)	small deletion	probably benign
R7709:Gm4553	UTSW	7	141,719,384 (GRCm39)	missense	unknown
R7901:Gm4553	UTSW	7	141,718,602 (GRCm39)	small deletion	probably benign
R8179:Gm4553	UTSW	7	141,718,594 (GRCm39)	missense	unknown
R8296:Gm4553	UTSW	7	141,719,458 (GRCm39)	missense	unknown
R8510:Gm4553	UTSW	7	141,719,025 (GRCm39)	small deletion	probably benign
R8549:Gm4553	UTSW	7	141,719,157 (GRCm39)	small deletion	probably benign
R9288:Gm4553	UTSW	7	141,719,025 (GRCm39)	small deletion	probably benign
R9335:Gm4553	UTSW	7	141,719,157 (GRCm39)	small deletion	probably benign
R9497:Gm4553	UTSW	7	141,719,298 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAACAACAGGGTTTGCAGCAGC -3'
(R):5'- GGGTATAAAAGCCCCAGGCTCAGG -3'

Sequencing Primer
(F):5'- AGGAACTACAACCACCCTTG -3'
(R):5'- GCTCAGGAGCCTCCAAC -3'

Posted On

2013-06-11