Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02747:BC048403'

306083

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC048403

Ensembl Gene

ENSMUSG00000053684

Gene Name

cDNA sequence BC048403

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL02747

Quality Score

Status

Chromosome

Chromosomal Location

121739937-121752878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 121745550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 152 (Q152P)

Ref Sequence

ENSEMBL: ENSMUSP00000070834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065600] [ENSMUST00000136432]

AlphaFold

no structure available at present

PDB Structure

X-ray structure of a hypothetical protein from Mouse Mm.209172 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000065600
AA Change: Q152P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000070834
Gene: ENSMUSG00000053684
AA Change: Q152P

Domain	Start	End	E-Value	Type
Pfam:DUF2003	7	444	3.8e-252	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136432
AA Change: Q16P

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117249
Gene: ENSMUSG00000053684
AA Change: Q16P

Domain	Start	End	E-Value	Type
Pfam:DUF2003	1	309	1.1e-205	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,373,282	L3373*	probably null	Het
Ap1s3	T	C	1: 79,623,692	Y94C	probably damaging	Het
Dbx2	T	C	15: 95,632,439	T216A	probably benign	Het
Dsg4	A	G	18: 20,446,938	R67G	probably damaging	Het
Eng	G	A	2: 32,672,958		probably null	Het
Gm28042	T	A	2: 120,031,394	I206N	probably damaging	Het
Gsdmc4	C	T	15: 63,893,871	M276I	probably benign	Het
Itih2	A	G	2: 10,097,945	S793P	probably benign	Het
Kcnj13	T	C	1: 87,389,365	N9D	probably benign	Het
Krt78	T	A	15: 101,950,384		probably benign	Het
Megf10	A	G	18: 57,290,493	K985E	probably benign	Het
Naa25	A	G	5: 121,414,605		probably benign	Het
Olfr918	T	C	9: 38,673,084	Y133C	probably benign	Het
Plekhm2	T	C	4: 141,634,272	T307A	possibly damaging	Het
Ppp1cc	A	G	5: 122,174,073	K301E	probably benign	Het
Ralgds	T	C	2: 28,548,110		probably benign	Het
Rccd1	A	T	7: 80,320,490	D126E	probably benign	Het
Reps1	T	C	10: 18,123,600	S712P	probably damaging	Het
Rnf103	T	A	6: 71,509,177	I264N	probably damaging	Het
Rpap1	A	G	2: 119,774,128	I433T	probably damaging	Het
Ryr2	T	G	13: 11,655,677	N3478H	probably damaging	Het
Sox30	A	G	11: 45,980,945	D209G	probably benign	Het
Sox6	A	G	7: 115,489,746	F628S	probably damaging	Het
Tas1r3	C	T	4: 155,860,460	G768D	possibly damaging	Het
Tesk2	T	C	4: 116,802,879	V398A	probably benign	Het
Tmem135	A	T	7: 89,144,670	I388N	probably damaging	Het
Tpgs2	A	G	18: 25,139,145		probably benign	Het
Vmn2r120	G	A	17: 57,524,719	H357Y	probably benign	Het

Other mutations in BC048403

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02164:BC048403	APN	10	121750770	missense	probably damaging	1.00
IGL02598:BC048403	APN	10	121739971	utr 5 prime	probably benign
R0381:BC048403	UTSW	10	121745375	missense	probably damaging	1.00
R0732:BC048403	UTSW	10	121750947	missense	possibly damaging	0.55
R2383:BC048403	UTSW	10	121750649	missense	possibly damaging	0.69
R4299:BC048403	UTSW	10	121745446	missense	probably benign	0.01
R4760:BC048403	UTSW	10	121740007	missense	probably damaging	1.00
R5595:BC048403	UTSW	10	121740147	start gained	probably benign
R6184:BC048403	UTSW	10	121750905	missense	probably damaging	1.00
R6487:BC048403	UTSW	10	121745541	missense	probably damaging	1.00
R6977:BC048403	UTSW	10	121745466	missense	probably damaging	0.98
R7094:BC048403	UTSW	10	121740193	missense	possibly damaging	0.95
R7250:BC048403	UTSW	10	121745471	missense	possibly damaging	0.82
R8186:BC048403	UTSW	10	121745342	missense	possibly damaging	0.79
R8554:BC048403	UTSW	10	121740055	missense	probably benign
R9005:BC048403	UTSW	10	121750596	missense	probably damaging	1.00
R9124:BC048403	UTSW	10	121750511	nonsense	probably null
R9245:BC048403	UTSW	10	121750368	missense	probably damaging	0.98

Posted On

2015-04-16