Mutagenetix > Incidental Mutations

Incidental Mutation 'R2924:Gm5478'

255680

Institutional Source

Beutler Lab

Gene Symbol

Gm5478

Ensembl Gene

ENSMUSG00000095241

Gene Name

predicted pseudogene 5478

Synonyms

MMRRC Submission

040509-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2924 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101643020-101647380 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 101643794 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100184] [ENSMUST00000229963]

Predicted Effect

probably null
Transcript: ENSMUST00000100184

SMART Domains

Protein: ENSMUSP00000097759
Gene: ENSMUSG00000095241

Domain	Start	End	E-Value	Type
Pfam:Filament	1	114	1.1e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229579

Predicted Effect

probably null
Transcript: ENSMUST00000229963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230401

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9	A	G	3: 97,209,753	S542P	probably benign	Het
Cass4	A	G	2: 172,426,672	R225G	possibly damaging	Het
Ddx50	A	T	10: 62,627,594	V440E	probably damaging	Het
Dmrtc2	G	A	7: 24,872,516	C12Y	probably damaging	Het
Dock6	A	T	9: 21,809,630	I1693N	probably damaging	Het
Fuom	T	C	7: 140,099,949	T110A	probably benign	Het
Gli2	C	T	1: 118,836,359	R1354H	probably benign	Het
Hsp90aa1	T	A	12: 110,695,680	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,695,681		probably null	Het
Il2rb	T	C	15: 78,491,849	M1V	probably null	Het
Ints6l	A	G	X: 56,504,836	E483G	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Man2b2	A	G	5: 36,824,102	F224L	probably benign	Het
Mrgpra1	G	A	7: 47,334,870		probably null	Het
Mtbp	G	A	15: 55,619,814	R429Q	probably benign	Het
Ncapg2	C	A	12: 116,438,729	T727K	probably benign	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Nup214	A	G	2: 31,998,003	K15E	probably damaging	Het
Olfr394	A	G	11: 73,887,511	I287T	probably damaging	Het
Oxr1	T	C	15: 41,825,957	Y526H	probably benign	Het
Plec	A	G	15: 76,178,252	F2563S	probably damaging	Het
Prex2	A	G	1: 11,098,487	T236A	probably damaging	Het
Rbbp5	G	C	1: 132,492,663		probably null	Het
Slc24a2	A	G	4: 87,011,724	S512P	probably benign	Het
Srd5a1	A	G	13: 69,586,715	S191P	probably damaging	Het
Syt3	T	A	7: 44,395,798	V518E	probably damaging	Het
Tmem132e	T	C	11: 82,444,323	S652P	probably damaging	Het
Uba6	A	T	5: 86,159,271	V102D	probably damaging	Het
Unc13a	A	G	8: 71,644,952	V1158A	possibly damaging	Het
Upk3a	A	G	15: 85,018,149	Y59C	probably benign	Het
Zc3hav1	T	C	6: 38,354,110	Y38C	probably damaging	Het
Zfp119a	C	A	17: 55,868,343	D51Y	possibly damaging	Het

Other mutations in Gm5478

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03137:Gm5478	APN	15	101644382	missense	probably benign	0.00
R0325:Gm5478	UTSW	15	101644326	missense	probably damaging	1.00
R0607:Gm5478	UTSW	15	101644624	missense	probably damaging	1.00
R1476:Gm5478	UTSW	15	101644645	missense	probably damaging	1.00
R1962:Gm5478	UTSW	15	101644395	missense	probably damaging	1.00
R3236:Gm5478	UTSW	15	101644303	missense	probably damaging	1.00
R4133:Gm5478	UTSW	15	101644645	missense	probably damaging	1.00
R5267:Gm5478	UTSW	15	101644402	missense	probably damaging	1.00
R5480:Gm5478	UTSW	15	101643665	missense	probably damaging	1.00
R5524:Gm5478	UTSW	15	101644667	missense	probably benign	0.31
R6959:Gm5478	UTSW	15	101645448	missense	probably damaging	0.99
R7035:Gm5478	UTSW	15	101645197	missense	possibly damaging	0.84
R8458:Gm5478	UTSW	15	101645427	missense	probably benign	0.00
R8461:Gm5478	UTSW	15	101646217	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCATGGACACTGGCATAGG -3'
(R):5'- CCATGGTTACTTCAAGAAACTCC -3'

Sequencing Primer
(F):5'- GCATAGGAATGGCTGCTGC -3'
(R):5'- AAGAAACTCCTTCCTGTGCTGGAG -3'

Posted On

2014-12-29