Mutagenetix > Incidental Mutation

Incidental Mutation 'R9086:Rnase4'

690628

Institutional Source

Beutler Lab

Gene Symbol

Rnase4

Ensembl Gene

ENSMUSG00000021876

Gene Name

ribonuclease, RNase A family 4

Synonyms

C730049F20Rik

MMRRC Submission

068905-MU

Accession Numbers

Essential gene?

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

Stock #

R9086 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51328534-51343608 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51342429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Ref Sequence

ENSEMBL: ENSMUSP00000022428 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022428
AA Change: D51G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022428
Gene: ENSMUSG00000021876
AA Change: D51G

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

possibly damaging
Transcript: ENSMUST00000169895
AA Change: D51G

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127274
Gene: ENSMUSG00000021876
AA Change: D51G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	C	11: 109,992,879 (GRCm39)	E1595G	probably damaging	Het
Ank1	T	C	8: 23,589,636 (GRCm39)	V608A	probably damaging	Het
Arl14epl	T	C	18: 47,065,661 (GRCm39)	V142A	possibly damaging	Het
Atp8a1	T	C	5: 67,932,159 (GRCm39)	D210G		Het
Baz1b	T	C	5: 135,260,538 (GRCm39)	F1112L	probably damaging	Het
Cage1	T	A	13: 38,206,898 (GRCm39)	I316F	probably damaging	Het
Car2	A	C	3: 14,952,968 (GRCm39)	T37P	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cntnap3	T	A	13: 64,929,573 (GRCm39)	D542V	probably damaging	Het
Coro1b	T	C	19: 4,202,525 (GRCm39)	Y338H	probably damaging	Het
Ctdspl2	G	A	2: 121,838,298 (GRCm39)		probably null	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dpm2	T	C	2: 32,462,391 (GRCm39)	L59P	probably damaging	Het
Duoxa2	A	G	2: 122,131,821 (GRCm39)	Y170C	probably damaging	Het
Dus2	T	A	8: 106,742,573 (GRCm39)	Y34*	probably null	Het
Dzip3	A	G	16: 48,781,493 (GRCm39)	I266T	possibly damaging	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Echdc2	C	T	4: 108,027,076 (GRCm39)	Q74*	probably null	Het
Efhc1	T	C	1: 21,025,592 (GRCm39)	Y33H	probably damaging	Het
Fam20a	A	T	11: 109,566,754 (GRCm39)	C378*	probably null	Het
Fbxo25	C	A	8: 13,989,621 (GRCm39)	P356Q	probably damaging	Het
Fig4	G	T	10: 41,161,399 (GRCm39)	T59K	possibly damaging	Het
Gbp10	T	A	5: 105,366,369 (GRCm39)	M512L	probably benign	Het
Gdf10	T	A	14: 33,654,221 (GRCm39)	Y243N	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
H1f9	A	T	11: 94,859,083 (GRCm39)	K126M	possibly damaging	Het
Ints1	A	T	5: 139,743,947 (GRCm39)	H1540Q	probably benign	Het
Lipo3	A	T	19: 33,534,529 (GRCm39)	L310Q	probably benign	Het
Lrrk2	A	G	15: 91,640,051 (GRCm39)	K1532R	probably benign	Het
Ltc4s	T	C	11: 50,128,074 (GRCm39)	Y59C	probably damaging	Het
Macf1	T	A	4: 123,377,944 (GRCm39)	H1427L	probably damaging	Het
Mroh2b	A	G	15: 4,982,754 (GRCm39)		probably null	Het
Mthfd1l	A	T	10: 3,923,412 (GRCm39)	D53V	probably benign	Het
Muc4	C	A	16: 32,577,842 (GRCm39)	P303Q		Het
Nrxn1	A	G	17: 90,469,792 (GRCm39)	F1293S	probably damaging	Het
Nrxn2	G	A	19: 6,540,108 (GRCm39)	E803K	probably damaging	Het
Nup155	A	G	15: 8,177,830 (GRCm39)	D1071G	possibly damaging	Het
Or1l4b	T	A	2: 37,036,426 (GRCm39)	D67E	probably damaging	Het
Or2ag18	A	T	7: 106,405,126 (GRCm39)	I181N	probably benign	Het
Or2ak6	T	A	11: 58,592,955 (GRCm39)	S143T	possibly damaging	Het
Papln	A	G	12: 83,821,633 (GRCm39)	E287G	probably damaging	Het
Pex13	C	A	11: 23,615,760 (GRCm39)	G29C	probably damaging	Het
Phrf1	C	A	7: 140,839,412 (GRCm39)	T869K	unknown	Het
Pitrm1	A	G	13: 6,627,517 (GRCm39)	T912A	probably benign	Het
Pla2g4c	A	G	7: 13,071,692 (GRCm39)	K171E	probably benign	Het
Pnpla7	A	T	2: 24,929,709 (GRCm39)	T833S	probably damaging	Het
Por	G	T	5: 135,744,918 (GRCm39)		probably null	Het
Rab3ip	G	A	10: 116,775,310 (GRCm39)	S16L	probably damaging	Het
Rabgef1	A	T	5: 130,240,792 (GRCm39)	I304F	probably benign	Het
Rbbp8	T	C	18: 11,875,736 (GRCm39)	V883A	possibly damaging	Het
Rnf13	A	C	3: 57,740,997 (GRCm39)	D291A	probably benign	Het
Rps6kb2	A	T	19: 4,209,270 (GRCm39)	I191N	probably damaging	Het
Scn1a	A	G	2: 66,181,358 (GRCm39)	L55S	probably benign	Het
Son	T	A	16: 91,467,418 (GRCm39)	F2260I	unknown	Het
Spata31h1	C	T	10: 82,124,577 (GRCm39)	S2811N	probably benign	Het
Ssr1	A	G	13: 38,167,449 (GRCm39)	I238T	probably benign	Het
Stk11ip	A	G	1: 75,506,818 (GRCm39)	E633G	possibly damaging	Het
Svs3a	A	G	2: 164,132,062 (GRCm39)	Y211C	probably benign	Het
Sytl1	T	A	4: 132,988,175 (GRCm39)	E60D	possibly damaging	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tlr1	T	C	5: 65,083,198 (GRCm39)	I460V	probably damaging	Het
Tmem64	T	C	4: 15,266,718 (GRCm39)	I256T	probably damaging	Het
Ttll5	G	A	12: 85,964,516 (GRCm39)	A553T	possibly damaging	Het
Ttll5	A	T	12: 86,071,107 (GRCm39)	T1327S	probably benign	Het
Upp2	T	A	2: 58,680,177 (GRCm39)	C334*	probably null	Het
Wdr74	C	A	19: 8,713,358 (GRCm39)	N24K	possibly damaging	Het
Zbtb42	G	A	12: 112,645,848 (GRCm39)	V8I	probably benign	Het
Zfp541	T	A	7: 15,824,329 (GRCm39)	L1078Q	probably damaging	Het
Zfr2	T	C	10: 81,076,029 (GRCm39)	V212A	probably damaging	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
R6742:Rnase4	UTSW	14	51,342,486 (GRCm39)	missense	probably benign	0.12
R7878:Rnase4	UTSW	14	51,342,333 (GRCm39)	missense	probably damaging	0.98
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'- TCTCAGGCACTTTCTAGGTAATG -3'
(R):5'- AACTCGCCTAGTGCTGGTTC -3'

Sequencing Primer
(F):5'- TGATGGATCTACAGAGGACTCAGTC -3'
(R):5'- CTGTATCTACAGTTGGGGGCC -3'

Posted On

2021-12-30