Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03290:Rpusd4'

415887

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 #

IGL03290

Quality Score

Status

Chromosome

Chromosomal Location

35179177-35187253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35179273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 30 (S30P)

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: S30P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: S30P

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	A	G	7: 119,302,646 (GRCm39)		probably benign	Het
Asb18	A	G	1: 89,942,296 (GRCm39)	S2P	probably damaging	Het
Atp2b2	A	G	6: 113,770,715 (GRCm39)	F398S	probably damaging	Het
BC034090	T	G	1: 155,101,856 (GRCm39)	D136A	probably damaging	Het
Ces5a	A	C	8: 94,246,260 (GRCm39)	F310V	probably damaging	Het
Chsy1	T	C	7: 65,820,779 (GRCm39)	V338A	probably benign	Het
Dbh	A	G	2: 27,064,944 (GRCm39)	E385G	probably damaging	Het
Dnah14	T	A	1: 181,591,543 (GRCm39)		probably benign	Het
F2rl1	A	G	13: 95,650,097 (GRCm39)	S262P	possibly damaging	Het
Fat2	T	C	11: 55,147,045 (GRCm39)	N3984D	probably benign	Het
Fbxo38	A	T	18: 62,659,234 (GRCm39)	H354Q	probably benign	Het
Fgf6	T	A	6: 127,001,095 (GRCm39)	V201D	probably damaging	Het
Gm16181	A	T	17: 35,442,933 (GRCm39)		probably benign	Het
Gm6811	T	C	17: 21,314,311 (GRCm39)		noncoding transcript	Het
Gna11	A	G	10: 81,366,771 (GRCm39)	F313S	probably damaging	Het
Gprc6a	C	T	10: 51,491,968 (GRCm39)	A523T	probably damaging	Het
Il22	T	C	10: 118,041,785 (GRCm39)		probably null	Het
Insr	T	C	8: 3,308,574 (GRCm39)	Y154C	probably damaging	Het
Irak4	T	A	15: 94,449,780 (GRCm39)	D86E	probably benign	Het
Itk	C	A	11: 46,225,764 (GRCm39)	W529L	probably damaging	Het
Klhl6	C	A	16: 19,765,887 (GRCm39)	A572S	probably benign	Het
Ldhc	C	T	7: 46,519,112 (GRCm39)	R112C	probably damaging	Het
Lrrc56	T	C	7: 140,779,685 (GRCm39)		probably benign	Het
Mdh2	A	G	5: 135,818,567 (GRCm39)	E274G	probably damaging	Het
N4bp1	G	T	8: 87,575,161 (GRCm39)	D711E	probably benign	Het
Ngly1	T	A	14: 16,281,866 (GRCm38)	I248K	probably damaging	Het
Or2ab1	A	G	11: 58,489,149 (GRCm39)	N309S	probably damaging	Het
Or7e176	T	C	9: 20,171,556 (GRCm39)	I140T	probably damaging	Het
Pbrm1	A	G	14: 30,829,241 (GRCm39)	E1421G	probably damaging	Het
Pcca	G	A	14: 122,822,518 (GRCm39)	R112H	possibly damaging	Het
Pgrmc2	T	C	3: 41,023,061 (GRCm39)		probably benign	Het
Podnl1	G	A	8: 84,858,818 (GRCm39)	V548I	probably benign	Het
Pogz	A	T	3: 94,782,402 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,754,771 (GRCm39)	Y159H	probably damaging	Het
Rax	T	C	18: 66,071,231 (GRCm39)	K135E	probably damaging	Het
Rbm7	T	A	9: 48,401,267 (GRCm39)	M154L	probably benign	Het
Rp1	A	G	1: 4,420,264 (GRCm39)	S283P	probably damaging	Het
Samd13	T	C	3: 146,352,070 (GRCm39)	T75A	probably benign	Het
Sfxn4	A	G	19: 60,848,508 (GRCm39)	W22R	probably damaging	Het
Sh3pxd2a	T	A	19: 47,412,955 (GRCm39)	R43W	probably damaging	Het
Smc5	A	G	19: 23,251,022 (GRCm39)	V54A	probably benign	Het
Snap47	A	G	11: 59,319,424 (GRCm39)	I238T	probably damaging	Het
Tecpr2	T	G	12: 110,934,267 (GRCm39)	I1309S	possibly damaging	Het
Trappc8	A	G	18: 20,953,992 (GRCm39)	L1310P	probably damaging	Het
Vmn2r61	T	A	7: 41,915,408 (GRCm39)	H118Q	probably benign	Het
Zbtb17	C	T	4: 141,194,244 (GRCm39)	T731I	probably damaging	Het
Zfp287	A	G	11: 62,606,062 (GRCm39)	F282L	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
IGL01657:Rpusd4	APN	9	35,184,757 (GRCm39)	unclassified	probably benign
IGL01780:Rpusd4	APN	9	35,179,720 (GRCm39)	missense	probably damaging	0.98
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

2016-08-02