Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00722:Rpusd4'

13867

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rpusd4

Ensembl Gene

ENSMUSG00000032044

Gene Name

RNA pseudouridylate synthase domain containing 4

Synonyms

2410001E19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.921) question?

Stock #

IGL00722

Quality Score

Status

Chromosome

Chromosomal Location

35179177-35187253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35179714 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 69 (V69D)

Ref Sequence

ENSEMBL: ENSMUSP00000034543 (fasta)

Gene Model

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

AlphaFold

Q9CWX4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034543
AA Change: V69D

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: V69D

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: ENSMUST00000147256

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146571

Predicted Effect

probably benign
Transcript: ENSMUST00000217306

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	T	C	12: 30,947,792 (GRCm39)	D82G	probably damaging	Het
Alpk1	A	G	3: 127,473,862 (GRCm39)	S714P	probably benign	Het
Atp11b	T	C	3: 35,874,084 (GRCm39)	I491T	probably damaging	Het
Frg2f1	C	T	4: 119,388,307 (GRCm39)	R64K	possibly damaging	Het
Hibch	T	C	1: 52,940,479 (GRCm39)	V216A	probably damaging	Het
Mttp	C	A	3: 137,814,776 (GRCm39)	V500F	possibly damaging	Het
Osbpl9	T	C	4: 108,929,207 (GRCm39)	I397V	probably damaging	Het
Setd2	T	C	9: 110,380,204 (GRCm39)	S1340P	possibly damaging	Het
Stk17b	T	C	1: 53,803,299 (GRCm39)	S167G	probably damaging	Het
Strn	T	C	17: 78,999,849 (GRCm39)	D129G	possibly damaging	Het
Wdr44	T	C	X: 23,598,548 (GRCm39)		probably benign	Het
Zfp558	G	T	9: 18,367,817 (GRCm39)	P324T	probably damaging	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
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
R5429:Rpusd4	UTSW	9	35,183,898 (GRCm39)	missense	probably benign	0.01
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

Posted On

2012-12-06