Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Rpusd4'

427073

Institutional Source

Beutler Lab

Gene Symbol

Rpusd4

Ensembl Gene

ENSMUSG00000032044

Gene Name

RNA pseudouridylate synthase domain containing 4

Synonyms

2410001E19Rik

MMRRC Submission

042995-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35179177-35187253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35183898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 209 (V209A)

Ref Sequence

ENSEMBL: ENSMUSP00000034543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034543] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000125087] [ENSMUST00000217306]

AlphaFold

Q9CWX4

Predicted Effect

probably benign
Transcript: ENSMUST00000034543
AA Change: V209A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: V209A

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	105	277	5.5e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059057

SMART Domains

Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	301	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063782

SMART Domains

Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
Pfam:SIR2_2	75	225	7.7e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121564

SMART Domains

Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	301	2.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125087

SMART Domains

Protein: ENSMUSP00000119747
Gene: ENSMUSG00000050471

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	268	3.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147256

Predicted Effect

probably benign
Transcript: ENSMUST00000217306

Predicted Effect

probably benign
Transcript: ENSMUST00000144582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	G	7: 75,252,652 (GRCm39)	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,504,837 (GRCm39)	G14R	probably damaging	Het
Auts2	G	A	5: 131,501,173 (GRCm39)	T289M	probably damaging	Het
Btaf1	G	A	19: 36,972,257 (GRCm39)	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,266,055 (GRCm39)	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,552,220 (GRCm39)	V154I	probably damaging	Het
Csde1	A	G	3: 102,960,157 (GRCm39)	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,379,935 (GRCm39)	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,447,133 (GRCm39)	V371M	probably damaging	Het
Dock6	T	C	9: 21,744,177 (GRCm39)	D677G	probably damaging	Het
Filip1l	A	T	16: 57,390,618 (GRCm39)	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Ghr	G	A	15: 3,418,157 (GRCm39)	Q37*	probably null	Het
Gm10770	C	T	2: 150,021,343 (GRCm39)	R58H	probably benign	Het
Gm12789	T	C	4: 101,847,158 (GRCm39)	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,110,792 (GRCm39)	N234K	probably benign	Het
Itih3	A	G	14: 30,645,478 (GRCm39)	V10A	probably benign	Het
Kat14	T	A	2: 144,235,243 (GRCm39)	D234E	probably benign	Het
Kif13a	A	G	13: 46,926,245 (GRCm39)		probably null	Het
Kif2b	A	G	11: 91,468,055 (GRCm39)	V76A	probably benign	Het
Mboat1	A	G	13: 30,403,650 (GRCm39)	T150A	probably benign	Het
Mfsd1	T	A	3: 67,507,293 (GRCm39)	L398H	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343 (GRCm39)	C705R	probably damaging	Het
Or13a27	A	G	7: 139,925,186 (GRCm39)	F239L	possibly damaging	Het
Or2ak5	T	A	11: 58,611,350 (GRCm39)	N175Y	probably damaging	Het
Pcdh10	T	C	3: 45,338,635 (GRCm39)	S931P	probably benign	Het
Pdpk1	T	C	17: 24,310,534 (GRCm39)	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,261,205 (GRCm39)	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,500,537 (GRCm39)	D452V	probably damaging	Het
Rims2	A	T	15: 39,208,751 (GRCm39)	T185S	probably damaging	Het
Safb	T	C	17: 56,895,822 (GRCm39)	V20A	probably benign	Het
Scaf8	C	A	17: 3,247,385 (GRCm39)	P903T	probably benign	Het
Slc30a7	A	G	3: 115,800,574 (GRCm39)	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,079,024 (GRCm39)		probably null	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tbc1d32	T	C	10: 55,904,089 (GRCm39)	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,531,522 (GRCm39)	T303N	probably damaging	Het
Tmc1	G	T	19: 20,766,986 (GRCm39)	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,753,606 (GRCm39)	I255T	probably benign	Het
Trim7	G	A	11: 48,740,782 (GRCm39)	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,075 (GRCm39)	Q385*	probably null	Het
Ttc39b	A	G	4: 83,162,190 (GRCm39)	I330T	possibly damaging	Het
Vil1	C	T	1: 74,471,490 (GRCm39)	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077 (GRCm39)	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,382,272 (GRCm39)	E686V	possibly damaging	Het
Zfp998	G	A	13: 66,579,887 (GRCm39)	P199S	probably benign	Het

Other mutations in Rpusd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Rpusd4	APN	9	35,179,738 (GRCm39)	missense	probably benign	0.34
IGL00722:Rpusd4	APN	9	35,179,714 (GRCm39)	missense	possibly damaging	0.66
IGL01657:Rpusd4	APN	9	35,184,757 (GRCm39)	unclassified	probably benign
IGL01780:Rpusd4	APN	9	35,179,720 (GRCm39)	missense	probably damaging	0.98
IGL03290:Rpusd4	APN	9	35,179,273 (GRCm39)	missense	probably benign
R0607:Rpusd4	UTSW	9	35,179,289 (GRCm39)	missense	possibly damaging	0.93
R1081:Rpusd4	UTSW	9	35,186,384 (GRCm39)	missense	probably benign	0.04
R1441:Rpusd4	UTSW	9	35,184,065 (GRCm39)	missense	probably damaging	0.97
R2029:Rpusd4	UTSW	9	35,179,310 (GRCm39)	missense	probably benign	0.00
R3929:Rpusd4	UTSW	9	35,183,876 (GRCm39)	missense	probably benign	0.29
R4107:Rpusd4	UTSW	9	35,186,424 (GRCm39)	missense	probably damaging	1.00
R4840:Rpusd4	UTSW	9	35,179,831 (GRCm39)	missense	probably damaging	1.00
R5801:Rpusd4	UTSW	9	35,181,369 (GRCm39)	missense	possibly damaging	0.83
R5988:Rpusd4	UTSW	9	35,183,816 (GRCm39)	splice site	probably null
R6318:Rpusd4	UTSW	9	35,179,334 (GRCm39)	missense	probably damaging	1.00
R7819:Rpusd4	UTSW	9	35,179,228 (GRCm39)	missense	probably benign
R7995:Rpusd4	UTSW	9	35,184,017 (GRCm39)	missense	probably damaging	0.99
R8227:Rpusd4	UTSW	9	35,179,831 (GRCm39)	missense	probably benign	0.22
R8246:Rpusd4	UTSW	9	35,183,876 (GRCm39)	missense	probably benign	0.29
V1662:Rpusd4	UTSW	9	35,184,057 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AATCAGTGACCCGTTCTAAACCTC -3'
(R):5'- AAGCACCTGGTACTGCGTTAC -3'

Sequencing Primer
(F):5'- CCTCTTTCACATAGAGAAGACACTG -3'
(R):5'- GCGTCATCTGAAGCCAAA -3'

Posted On

2016-09-01