Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01657:Rpusd4'

103073

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: 0.919) question?

Stock #

IGL01657

Quality Score

Status

Chromosome

Chromosomal Location

35179177-35187253 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 35184757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034543]

AlphaFold

Q9CWX4

Predicted Effect

probably benign
Transcript: ENSMUST00000034543

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130552

Predicted Effect

probably benign
Transcript: ENSMUST00000144582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146571

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,865,574 (GRCm39)	F90L	probably benign	Het
Anapc4	T	A	5: 53,021,968 (GRCm39)	Y683*	probably null	Het
Astn2	T	G	4: 65,570,186 (GRCm39)	D773A	probably damaging	Het
Atp2b3	T	C	X: 72,588,966 (GRCm39)		probably benign	Het
Atp8b5	T	C	4: 43,291,693 (GRCm39)	M22T	probably benign	Het
Birc6	T	A	17: 74,967,606 (GRCm39)	L4169H	probably damaging	Het
Cdc42bpa	T	C	1: 179,939,431 (GRCm39)	V81A	probably benign	Het
Clcn2	A	T	16: 20,532,369 (GRCm39)	C80S	probably damaging	Het
Clu	C	T	14: 66,217,121 (GRCm39)	A318V	possibly damaging	Het
Csnk1g2	A	G	10: 80,475,463 (GRCm39)	H378R	probably benign	Het
Decr2	T	A	17: 26,301,926 (GRCm39)	D268V	probably damaging	Het
Dpp3	T	C	19: 4,968,332 (GRCm39)	T247A	possibly damaging	Het
Eif4g1	A	G	16: 20,500,966 (GRCm39)	N774D	possibly damaging	Het
Epha4	A	T	1: 77,403,475 (GRCm39)	V344E	probably damaging	Het
Epha6	A	C	16: 59,659,666 (GRCm39)	N817K	probably benign	Het
Ggcx	T	A	6: 72,406,941 (GRCm39)		probably null	Het
Gm1965	C	T	6: 89,123,648 (GRCm39)		noncoding transcript	Het
Gmnn	T	C	13: 24,937,687 (GRCm39)	E101G	probably damaging	Het
Grik2	C	T	10: 49,404,082 (GRCm39)		probably null	Het
H2-M11	T	A	17: 36,858,465 (GRCm39)	D86E	probably benign	Het
Il6st	T	A	13: 112,618,077 (GRCm39)	W164R	probably damaging	Het
Ilvbl	G	T	10: 78,412,602 (GRCm39)	V108L	possibly damaging	Het
Klk10	A	G	7: 43,431,013 (GRCm39)	K19E	possibly damaging	Het
Mbd4	G	T	6: 115,826,598 (GRCm39)	T131N	probably damaging	Het
Ncapd3	T	C	9: 26,983,120 (GRCm39)	V956A	possibly damaging	Het
Nif3l1	A	C	1: 58,494,771 (GRCm39)	T247P	probably damaging	Het
Nrcam	T	C	12: 44,606,583 (GRCm39)	V443A	probably damaging	Het
Or4c35	A	G	2: 89,808,221 (GRCm39)	Y33C	probably damaging	Het
Pigk	T	A	3: 152,428,157 (GRCm39)	H61Q	probably damaging	Het
Pla2g4d	C	A	2: 120,105,768 (GRCm39)	V431F	possibly damaging	Het
Pxt1	A	T	17: 29,153,778 (GRCm39)	H18Q	possibly damaging	Het
Slc22a18	T	G	7: 143,052,837 (GRCm39)	L354R	probably damaging	Het
Slc26a10	A	G	10: 127,010,903 (GRCm39)	V443A	probably damaging	Het
Smpx	A	G	X: 156,497,676 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,908,491 (GRCm39)	S1751G	probably benign	Het
Ush2a	C	T	1: 188,558,658 (GRCm39)	T3629I	probably benign	Het
Vcan	C	T	13: 89,838,705 (GRCm39)	V2280M	probably damaging	Het
Vmn1r30	T	C	6: 58,412,619 (GRCm39)	E71G	probably benign	Het
Vmn2r100	A	T	17: 19,746,178 (GRCm39)	I446F	possibly damaging	Het
Vmn2r75	A	T	7: 85,813,455 (GRCm39)	V449D	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
IGL00722:Rpusd4	APN	9	35,179,714 (GRCm39)	missense	possibly damaging	0.66
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

2014-01-21