Mutagenetix > Incidental Mutation

Incidental Mutation 'R6742:Rnase4'

530508

Institutional Source

Beutler Lab

Gene Symbol

Rnase4

Ensembl Gene

ENSMUSG00000021876

Gene Name

ribonuclease, RNase A family 4

Synonyms

C730049F20Rik

MMRRC Submission

044859-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R6742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51328534-51343608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51342486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 70 (R70L)

Ref Sequence

ENSEMBL: ENSMUSP00000127274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022428] [ENSMUST00000069011] [ENSMUST00000169895] [ENSMUST00000171688]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000022428
AA Change: R70L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: R70L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
RNAse_Pc	30	148	8.54e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000069011

SMART Domains

Protein: ENSMUSP00000067434
Gene: ENSMUSG00000072115

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
RNAse_Pc	26	142	6.52e-65	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169895
AA Change: R70L

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: R70L

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
RNAse_Pc	30	148	8.54e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171688

SMART Domains

Protein: ENSMUSP00000132084
Gene: ENSMUSG00000072115

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
RNAse_Pc	26	142	6.52e-65	SMART

Meta Mutation Damage Score

0.1647

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: This gene encodes a member of the pancreatic ribonuclease A superfamily. The encoded enzyme is sereted and has unique uridine specificity. This gene resides in a cluster of highly related genes. It shares dual promoters and 5' exons with the angiogenin, ribonuclease, RNase A family, 5 gene. Each gene splices to a unique downstream exon that contains its complete coding region. Two alternatively spliced variants, with different 5' exons but the same coding exon, have been identified. [provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,654,995 (GRCm39)	R1440G	probably benign	Het
Abca13	T	A	11: 9,278,168 (GRCm39)	L3116Q	probably damaging	Het
Adgb	G	A	10: 10,287,593 (GRCm39)	H55Y	probably damaging	Het
AI182371	G	T	2: 34,974,717 (GRCm39)		probably benign	Het
Ank3	T	C	10: 69,827,412 (GRCm39)		probably benign	Het
Ccdc127	G	T	13: 74,501,042 (GRCm39)	G20W	probably damaging	Het
Ccdc149	G	A	5: 52,562,475 (GRCm39)	Q184*	probably null	Het
Cntrob	G	A	11: 69,213,749 (GRCm39)	P14S	probably damaging	Het
Dnah11	T	C	12: 118,077,629 (GRCm39)	E1288G	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Evpl	T	C	11: 116,113,640 (GRCm39)	D1350G	possibly damaging	Het
Fasn	T	C	11: 120,701,279 (GRCm39)	T1990A	probably damaging	Het
Itga2	T	A	13: 114,973,061 (GRCm39)	N1166I	possibly damaging	Het
Lmtk2	T	A	5: 144,085,175 (GRCm39)	C216S	probably damaging	Het
Lrp1b	T	C	2: 41,361,132 (GRCm39)	D557G	probably benign	Het
Lrrc32	T	C	7: 98,148,039 (GRCm39)	V273A	probably benign	Het
Nlrp4f	C	T	13: 65,335,254 (GRCm39)		probably null	Het
Ntng2	T	G	2: 29,090,940 (GRCm39)	M360L	probably benign	Het
Pik3c2b	A	G	1: 133,003,559 (GRCm39)	S504G	probably benign	Het
Ppfia4	A	C	1: 134,256,909 (GRCm39)	L104R	probably damaging	Het
Raph1	A	G	1: 60,564,879 (GRCm39)	S203P	probably damaging	Het
Rbl1	G	A	2: 157,011,918 (GRCm39)	T679I	probably benign	Het
Rnf146	A	C	10: 29,223,528 (GRCm39)	D119E	probably damaging	Het
Rrp1b	A	G	17: 32,275,908 (GRCm39)	H485R	probably benign	Het
Rwdd4a	T	A	8: 48,000,998 (GRCm39)		probably null	Het
Scarf2	G	A	16: 17,624,351 (GRCm39)	C552Y	probably damaging	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Sox10	T	C	15: 79,040,676 (GRCm39)	N127S	probably damaging	Het
Speer4a1	A	T	5: 26,241,054 (GRCm39)		probably null	Het
Tars1	A	T	15: 11,394,427 (GRCm39)	I70N	probably damaging	Het
Thsd7a	C	T	6: 12,408,815 (GRCm39)	V736M	probably damaging	Het
Timp3	G	A	10: 86,136,742 (GRCm39)	V9M	probably benign	Het
Tnfrsf1a	A	T	6: 125,333,911 (GRCm39)	N55Y	probably damaging	Het
Trim43a	G	A	9: 88,470,399 (GRCm39)	V402I	possibly damaging	Het
Tshz2	A	G	2: 169,725,677 (GRCm39)	D91G	probably damaging	Het
Ubac1	T	C	2: 25,895,418 (GRCm39)	D345G	possibly damaging	Het
Usp4	G	A	9: 108,251,438 (GRCm39)	V538I	possibly damaging	Het
Vmn2r19	A	T	6: 123,306,917 (GRCm39)	Y475F	possibly damaging	Het
Vmn2r87	A	T	10: 130,308,396 (GRCm39)	V614E	probably damaging	Het
Wfdc2	A	T	2: 164,404,706 (GRCm39)	T21S	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zfp78	A	G	7: 6,381,277 (GRCm39)	E109G	probably damaging	Het
Zfp873	C	A	10: 81,894,256 (GRCm39)	A19D	probably damaging	Het
Zfp935	T	A	13: 62,602,293 (GRCm39)	K302N	probably damaging	Het
Zfpm2	G	A	15: 40,965,114 (GRCm39)	S401N	probably benign	Het

Other mutations in Rnase4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Rnase4	APN	14	51,342,378 (GRCm39)	missense	probably damaging	1.00
R0601:Rnase4	UTSW	14	51,342,552 (GRCm39)	missense	probably benign
R0671:Rnase4	UTSW	14	51,342,507 (GRCm39)	missense	probably damaging	1.00
R0948:Rnase4	UTSW	14	51,342,362 (GRCm39)	missense	probably damaging	1.00
R1571:Rnase4	UTSW	14	51,342,497 (GRCm39)	missense	probably damaging	1.00
R1758:Rnase4	UTSW	14	51,342,722 (GRCm39)	makesense	probably null
R1893:Rnase4	UTSW	14	51,342,395 (GRCm39)	missense	possibly damaging	0.92
R4051:Rnase4	UTSW	14	51,342,462 (GRCm39)	missense	probably benign
R4052:Rnase4	UTSW	14	51,342,462 (GRCm39)	missense	probably benign
R4207:Rnase4	UTSW	14	51,342,462 (GRCm39)	missense	probably benign
R4208:Rnase4	UTSW	14	51,342,462 (GRCm39)	missense	probably benign
R5074:Rnase4	UTSW	14	51,342,702 (GRCm39)	missense	possibly damaging	0.88
R5739:Rnase4	UTSW	14	51,342,306 (GRCm39)	missense	probably benign	0.01
R7878:Rnase4	UTSW	14	51,342,333 (GRCm39)	missense	probably damaging	0.98
R9086:Rnase4	UTSW	14	51,342,429 (GRCm39)	missense	possibly damaging	0.86
R9091:Rnase4	UTSW	14	51,342,662 (GRCm39)	missense	probably benign	0.33
R9270:Rnase4	UTSW	14	51,342,662 (GRCm39)	missense	probably benign	0.33
R9526:Rnase4	UTSW	14	51,342,645 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGATGGATCTACAGAGGACTCAG -3'
(R):5'- TGACAACTCGCCTAGTGCTG -3'

Sequencing Primer
(F):5'- AGTCCTTGCTTCTGCTCTTGGTG -3'
(R):5'- AACTCGCCTAGTGCTGGTTCTTG -3'

Posted On

2018-08-01