Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02592:Rnase6'

299775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rnase6

Ensembl Gene

ENSMUSG00000021880

Gene Name

ribonuclease, RNase A family, 6

Synonyms

9530043P15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02592

Quality Score

Status

Chromosome

Chromosomal Location

51361365-51369644 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51367982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 125 (Y125H)

Ref Sequence

ENSEMBL: ENSMUSP00000154125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095923] [ENSMUST00000226194] [ENSMUST00000226210]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095923
AA Change: Y125H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093613
Gene: ENSMUSG00000021880
AA Change: Y125H

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
RNAse_Pc	30	153	4.83e-59	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000226194
AA Change: Y125H

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000226210

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228752

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps	G	A	14: 12,473,465 (GRCm38)	R899C	probably damaging	Het
Cass4	T	C	2: 172,258,248 (GRCm39)	L82P	probably benign	Het
Cd53	C	A	3: 106,670,601 (GRCm39)	C144F	probably damaging	Het
Fancc	G	A	13: 63,508,011 (GRCm39)	R175W	probably damaging	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gpr149	T	C	3: 62,511,231 (GRCm39)	D256G	possibly damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Lvrn	T	A	18: 46,983,658 (GRCm39)	C134S	probably damaging	Het
Mroh8	A	T	2: 157,058,889 (GRCm39)	Y926N	probably damaging	Het
Nfxl1	A	G	5: 72,671,572 (GRCm39)	S896P	probably benign	Het
Orc4	A	T	2: 48,823,090 (GRCm39)		probably null	Het
Pcsk6	T	A	7: 65,618,776 (GRCm39)	H447Q	probably damaging	Het
Rfx6	C	A	10: 51,592,119 (GRCm39)	Q121K	probably damaging	Het
Sbno1	A	T	5: 124,538,872 (GRCm39)	Y494N	probably damaging	Het
Sppl3	G	A	5: 115,233,970 (GRCm39)	V347M	probably damaging	Het
Tlr12	G	A	4: 128,511,479 (GRCm39)	T257M	probably benign	Het
Tmem132e	A	T	11: 82,325,462 (GRCm39)	D154V	probably damaging	Het
Zfp345	A	G	2: 150,315,229 (GRCm39)	Y103H	probably benign	Het
Zfp947	T	A	17: 22,365,233 (GRCm39)	Q147L	possibly damaging	Het

Other mutations in Rnase6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01861:Rnase6	APN	14	51,367,748 (GRCm39)	missense	probably benign	0.08
R1960:Rnase6	UTSW	14	51,367,889 (GRCm39)	missense	possibly damaging	0.95
R2167:Rnase6	UTSW	14	51,367,974 (GRCm39)	missense	probably benign
R5197:Rnase6	UTSW	14	51,367,670 (GRCm39)	missense	unknown
R8364:Rnase6	UTSW	14	51,367,910 (GRCm39)	missense	probably benign	0.41
R8985:Rnase6	UTSW	14	51,367,632 (GRCm39)	missense	unknown
R9364:Rnase6	UTSW	14	51,367,862 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16