Mutagenetix > Incidental Mutation

Incidental Mutation 'R1294:Gm5334'

158020

Institutional Source

Beutler Lab

Gene Symbol

Gm5334

Ensembl Gene

ENSMUSG00000094854

Gene Name

predicted pseudogene 5334

Synonyms

MMRRC Submission

039360-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.246) question?

Stock #

R1294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68268586-68269305 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68268862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 94 (S94P)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000179090
AA Change: S94P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137059
Gene: ENSMUSG00000094854
AA Change: S94P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	239	4.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187472

Meta Mutation Damage Score

0.2754

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.4%

Validation Efficiency

97% (33/34)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C2cd2	A	G	16: 97,723,469 (GRCm39)	L16P	probably damaging	Het
Cfap57	A	T	4: 118,463,731 (GRCm39)		probably null	Het
Cnn2	A	G	10: 79,829,359 (GRCm39)	D163G	probably damaging	Het
Csmd1	T	C	8: 16,748,052 (GRCm39)	D233G	probably damaging	Het
Csta2	T	A	16: 36,077,618 (GRCm39)	D58E	probably damaging	Het
Dhh	T	C	15: 98,792,264 (GRCm39)	Q248R	probably benign	Het
Elavl2	G	A	4: 91,199,826 (GRCm39)	A19V	probably benign	Het
Fxr1	T	A	3: 34,101,201 (GRCm39)	M169K	probably benign	Het
Ghr	A	G	15: 3,418,128 (GRCm39)		probably null	Het
Klk1b3	C	A	7: 43,849,720 (GRCm39)	S35Y	probably damaging	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Lap3	T	C	5: 45,655,863 (GRCm39)	V156A	probably benign	Het
Pcbp3	A	G	10: 76,599,155 (GRCm39)	I327T	probably damaging	Het
Plaat5	A	G	19: 7,592,015 (GRCm39)		probably benign	Het
Polr1a	A	T	6: 71,889,886 (GRCm39)	N35I	probably damaging	Het
Rab3c	T	C	13: 110,397,099 (GRCm39)	T56A	possibly damaging	Het
Rapsn	A	T	2: 90,867,120 (GRCm39)	K141*	probably null	Het
Rxrg	G	T	1: 167,441,470 (GRCm39)	A83S	probably benign	Het
Serpinc1	T	C	1: 160,817,211 (GRCm39)	S102P	probably damaging	Het
Setd2	A	G	9: 110,378,575 (GRCm39)	N797D	probably benign	Het
Skic2	T	C	17: 35,060,040 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,843,295 (GRCm39)	V619E	unknown	Het
Slc25a20	A	G	9: 108,554,838 (GRCm39)	M128V	probably benign	Het
Spam1	A	G	6: 24,796,906 (GRCm39)	I286V	probably benign	Het
Tbc1d22a	T	A	15: 86,381,027 (GRCm39)	F479Y	probably damaging	Het
Tdrd1	A	G	19: 56,837,208 (GRCm39)		probably null	Het
Trim58	T	A	11: 58,533,953 (GRCm39)	I169N	probably benign	Het
Vmn1r25	A	G	6: 57,955,464 (GRCm39)	I275T	possibly damaging	Het
Zfp27	T	A	7: 29,595,737 (GRCm39)	Y76F	possibly damaging	Het

Other mutations in Gm5334

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1603:Gm5334	UTSW	7	68,268,620 (GRCm39)	missense	probably benign	0.00
R1717:Gm5334	UTSW	7	68,268,725 (GRCm39)	exon	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TCTCAAGGGAATTAAGCAAGCCCAC -3'
(R):5'- AGACTATACTGCACCTGGTCCACG -3'

Sequencing Primer
(F):5'- AGAGTCAACTTGGAAACCCTG -3'
(R):5'- GGCCTGGCTCTTCCTATCATTG -3'

Posted On

2014-02-18