Mutagenetix > Incidental Mutations

Incidental Mutation 'V1662:Rpusd4'

63487

Institutional Source

Beutler Lab

Gene Symbol

Rpusd4

Ensembl Gene

ENSMUSG00000032044

Gene Name

RNA pseudouridylate synthase domain containing 4

Synonyms

2410001E19Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.925) question?

Stock #

V1662 () of strain 633

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

35267865-35277731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35272761 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 237 (S237R)

Ref Sequence

ENSEMBL: ENSMUSP00000034543 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034543
AA Change: S237R

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: S237R

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

probably benign
Transcript: ENSMUST00000144582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147256

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	G	C	5: 114,238,708	G1951R	probably damaging	Het
Adamts12	T	A	15: 11,071,808	L146Q	probably benign	Het
Adgra1	T	C	7: 139,852,579	I111T	probably damaging	Het
Amph	G	A	13: 19,139,370	V601M	probably benign	Het
Arfgef1	T	C	1: 10,173,253	K1024E	probably damaging	Het
Arhgef2	G	A	3: 88,633,329	R154Q	probably damaging	Het
Bank1	T	A	3: 136,054,418	D782V	probably damaging	Het
Bhlha9	G	T	11: 76,673,036	R163L	probably benign	Het
Cacna1h	T	C	17: 25,377,309	N1913D	possibly damaging	Het
Cd7	T	C	11: 121,037,126	I184V	probably benign	Het
Cdk2ap1	T	A	5: 124,348,676	I68F	possibly damaging	Het
Cfap44	C	A	16: 44,449,138	Y1168*	probably null	Het
D6Ertd527e	T	C	6: 87,111,892	S346P	unknown	Het
Daam2	A	G	17: 49,464,601	L839P	possibly damaging	Het
Fam198a	A	G	9: 121,965,025	R82G	probably damaging	Het
Gm7030	A	G	17: 36,128,931	Y104H	probably benign	Het
Golgb1	A	G	16: 36,898,542	H270R	probably benign	Het
Itgav	C	T	2: 83,783,854	R519W	possibly damaging	Het
Lrp1b	A	T	2: 41,122,932	I2001K	probably damaging	Het
Lrrc40	T	A	3: 158,052,789	I277K	probably damaging	Het
Olfr1025-ps1	C	A	2: 85,918,594	T223K	probably benign	Het
Olfr1350	A	T	7: 6,570,819	Y276F	probably damaging	Het
Olfr1373	T	C	11: 52,145,177	M118V	probably damaging	Het
Olfr524	C	T	7: 140,201,958	D271N	possibly damaging	Het
Pyroxd1	G	A	6: 142,358,443	G307S	probably damaging	Het
Rp1	T	A	1: 4,349,560	Y443F	probably damaging	Het
Sdk2	A	C	11: 113,834,908	W1172G	probably damaging	Het
Utrn	A	G	10: 12,421,640	Y675H	probably damaging	Het
Vmn1r193	A	G	13: 22,219,075	I249T	possibly damaging	Het

Other mutations in Rpusd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00597:Rpusd4	APN	9	35268442	missense	probably benign	0.34
IGL00722:Rpusd4	APN	9	35268418	missense	possibly damaging	0.66
IGL01657:Rpusd4	APN	9	35273461	unclassified	probably benign
IGL01780:Rpusd4	APN	9	35268424	missense	probably damaging	0.98
IGL03290:Rpusd4	APN	9	35267977	missense	probably benign
R0607:Rpusd4	UTSW	9	35267993	missense	possibly damaging	0.93
R1081:Rpusd4	UTSW	9	35275088	missense	probably benign	0.04
R1441:Rpusd4	UTSW	9	35272769	missense	probably damaging	0.97
R2029:Rpusd4	UTSW	9	35268014	missense	probably benign	0.00
R3929:Rpusd4	UTSW	9	35272580	missense	probably benign	0.29
R4107:Rpusd4	UTSW	9	35275128	missense	probably damaging	1.00
R4840:Rpusd4	UTSW	9	35268535	missense	probably damaging	1.00
R5429:Rpusd4	UTSW	9	35272602	missense	probably benign	0.01
R5801:Rpusd4	UTSW	9	35270073	missense	possibly damaging	0.83
R5988:Rpusd4	UTSW	9	35272520	splice site	probably null
R6318:Rpusd4	UTSW	9	35268038	missense	probably damaging	1.00
R7819:Rpusd4	UTSW	9	35267932	missense	probably benign
R7995:Rpusd4	UTSW	9	35272721	missense	probably damaging	0.99
R8227:Rpusd4	UTSW	9	35268535	missense	probably benign	0.22
R8246:Rpusd4	UTSW	9	35272580	missense	probably benign	0.29

Predicted Primers

PCR Primer
(F):5'- TCAAACAGCAGTCTGTGTGTCACC -3'
(R):5'- TCCCTCCTGGGCTAAGTCAATTATACC -3'

Sequencing Primer
(F):5'- ATCACGGTGCGTGTTCC -3'
(R):5'- TGGGCTAAGTCAATTATACCCACAC -3'

Posted On

2013-07-30