Mutagenetix > Incidental Mutations

Incidental Mutation 'R6318:Rpusd4'

510287

Institutional Source

Beutler Lab

Gene Symbol

Rpusd4

Ensembl Gene

ENSMUSG00000032044

Gene Name

RNA pseudouridylate synthase domain containing 4

Synonyms

2410001E19Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.924) question?

Stock #

R6318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35267865-35277731 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35268038 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 50 (L50P)

Ref Sequence

ENSEMBL: ENSMUSP00000034543 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034543
AA Change: L50P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: L50P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.3%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	G	9: 108,393,275	T13A	possibly damaging	Het
Abcg4	T	C	9: 44,275,348	T500A	probably benign	Het
Adcy4	T	A	14: 55,769,224	I1051F	probably damaging	Het
Adgrg6	A	T	10: 14,467,497	N235K	probably benign	Het
Aldh3a2	A	C	11: 61,262,419	Y160*	probably null	Het
Arhgef4	G	A	1: 34,723,477	A605T	unknown	Het
Armt1	T	C	10: 4,450,859	M202T	probably benign	Het
AU019823	T	C	9: 50,607,461	R284G	probably benign	Het
Brd2	C	A	17: 34,112,898	V349F	probably damaging	Het
Btnl10	A	T	11: 58,926,865		probably benign	Het
Ccdc178	A	G	18: 22,120,534	V216A	possibly damaging	Het
Ccdc85c	A	T	12: 108,274,709	L142Q	unknown	Het
Cdc27	A	T	11: 104,528,694	S172T	probably damaging	Het
Ceacam14	T	C	7: 17,814,312	I109T	probably damaging	Het
Ces5a	C	T	8: 93,534,583	G72E	probably damaging	Het
Cfb	A	G	17: 34,861,824	Y66H	possibly damaging	Het
Clec14a	G	A	12: 58,268,215	P207L	probably damaging	Het
Clec16a	G	A	16: 10,630,788	R599H	probably damaging	Het
Csmd1	A	T	8: 15,903,212	I3423N	probably damaging	Het
Cyp4a29	C	A	4: 115,250,199	N243K	probably benign	Het
Ddx59	T	C	1: 136,416,872	F94L	probably damaging	Het
Dusp3	A	C	11: 101,986,871	V19G	probably benign	Het
Fat3	T	C	9: 15,916,984		probably benign	Het
Fgfr4	T	A	13: 55,166,108	V545E	probably damaging	Het
Fxn	G	T	19: 24,280,426	A47D	probably damaging	Het
Gdpgp1	A	T	7: 80,239,150	I310F	possibly damaging	Het
Gm7210	A	T	7: 11,594,113		noncoding transcript	Het
Grm7	G	T	6: 111,358,875	C749F	probably damaging	Het
Hps4	T	G	5: 112,346,629	V26G	probably damaging	Het
Igf1r	A	G	7: 68,165,233	D294G	probably benign	Het
Immp1l	T	C	2: 105,930,827	F27S	probably benign	Het
Kcnk3	T	A	5: 30,622,586	C327S	probably damaging	Het
Kif13a	T	A	13: 46,815,207		probably null	Het
Krtap5-4	T	C	7: 142,304,090	S166P	unknown	Het
Lyst	G	A	13: 13,743,311	D3319N	possibly damaging	Het
Malrd1	T	G	2: 16,042,267	S1735A	unknown	Het
Myh4	A	G	11: 67,243,442	T308A	probably benign	Het
Myh8	A	T	11: 67,299,341	Q1269L	probably benign	Het
Myo15b	G	A	11: 115,890,831	V1367I	probably damaging	Het
Nae1	T	C	8: 104,523,637	D208G	probably benign	Het
Nelfe	T	A	17: 34,854,456	V296D	probably damaging	Het
Npepps	A	T	11: 97,218,548	V734E	probably damaging	Het
Ogdh	A	G	11: 6,349,390	N752S	probably damaging	Het
Olfr1094	A	G	2: 86,829,654	I301V	possibly damaging	Het
Olfr266	T	C	3: 106,822,187	D124G	probably damaging	Het
Olfr401	A	T	11: 74,121,721	Q144L	possibly damaging	Het
Olfr906	T	C	9: 38,488,377	M116T	probably benign	Het
Otof	C	A	5: 30,414,544	G171V	probably damaging	Het
Phtf2	A	T	5: 20,801,941	V208D	probably damaging	Het
Pkn1	T	A	8: 83,683,591	T340S	probably damaging	Het
Plcd4	C	T	1: 74,563,594	L668F	possibly damaging	Het
Plch1	C	T	3: 63,781,390	W131*	probably null	Het
Prss50	A	T	9: 110,861,299	D170V	probably damaging	Het
Ptprg	T	C	14: 12,237,118	V604A	probably damaging	Het
Rab33b	T	C	3: 51,493,405	V100A	probably damaging	Het
Rbm26	T	A	14: 105,131,535	D736V	probably damaging	Het
Rela	C	A	19: 5,646,964	P400T	probably benign	Het
Scn10a	A	C	9: 119,627,115	Y1214D	probably damaging	Het
Sema3c	A	G	5: 17,672,432	E179G	probably damaging	Het
Skint5	T	A	4: 113,517,133	D1253V	unknown	Het
Sp4	G	T	12: 118,238,178	P771H	probably damaging	Het
Sphkap	T	A	1: 83,278,378	Y263F	probably damaging	Het
Ssbp1	G	A	6: 40,476,753	V78I	probably benign	Het
St3gal6	A	G	16: 58,486,406	I87T	probably benign	Het
Tango6	T	A	8: 106,818,497	D997E	probably benign	Het
Tpr	C	T	1: 150,445,888	P2265S	possibly damaging	Het
Ttc7b	A	T	12: 100,325,677	F212Y	probably damaging	Het
Ubc	A	G	5: 125,388,260	M1T	probably null	Het
Vill	G	C	9: 119,063,648	Q376H	probably benign	Het
Yes1	T	C	5: 32,651,686	I132T	possibly damaging	Het
Ythdc2	A	G	18: 44,860,377	T830A	probably benign	Het
Zbtb41	T	A	1: 139,430,306	F451I	possibly damaging	Het
Zfp995	C	T	17: 21,880,512	C247Y	probably benign	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
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
V1662:Rpusd4	UTSW	9	35272761	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCAGTGCTCTCCAAGAATG -3'
(R):5'- TTATCTGCATACCCACGCG -3'

Sequencing Primer
(F):5'- GCCATGCGAAAACCGTTG -3'
(R):5'- GTCTGGCAGTAGCAAAAGTG -3'

Posted On

2018-04-02