Mutagenetix > Incidental Mutation

Incidental Mutation 'R1081:Rpusd4'

152708

Institutional Source

Beutler Lab

Gene Symbol

Rpusd4

Ensembl Gene

ENSMUSG00000032044

Gene Name

RNA pseudouridylate synthase domain containing 4

Synonyms

2410001E19Rik

MMRRC Submission

039167-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.919) question?

Stock #

R1081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35179177-35187253 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35186384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 307 (K307E)

Ref Sequence

ENSEMBL: ENSMUSP00000034543 (fasta)

Gene Model

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

AlphaFold

Q9CWX4

Predicted Effect

probably benign
Transcript: ENSMUST00000034543
AA Change: K307E

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: K307E

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

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,139,002 (GRCm39)	E309G	probably benign	Het
Abr	T	C	11: 76,346,441 (GRCm39)	K448E	probably damaging	Het
Atxn2l	T	C	7: 126,093,384 (GRCm39)	Y785C	probably damaging	Het
Atxn3	T	G	12: 101,900,608 (GRCm39)	D225A	probably damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Cntnap5c	A	G	17: 58,612,520 (GRCm39)	D853G	possibly damaging	Het
Dnah9	A	G	11: 65,975,703 (GRCm39)	Y1449H	probably damaging	Het
Dsc2	T	G	18: 20,166,352 (GRCm39)	T760P	probably damaging	Het
Dync2h1	A	T	9: 7,005,488 (GRCm39)		probably null	Het
Epg5	T	C	18: 78,002,748 (GRCm39)	F611L	possibly damaging	Het
Fat3	T	C	9: 16,286,580 (GRCm39)	D981G	possibly damaging	Het
Gimap3	A	T	6: 48,742,086 (GRCm39)	C281*	probably null	Het
Ids	T	C	X: 69,404,716 (GRCm39)	D149G	possibly damaging	Het
Inpp4b	A	G	8: 82,795,653 (GRCm39)	I826V	probably damaging	Het
Kcnrg	C	A	14: 61,845,163 (GRCm39)	H68N	possibly damaging	Het
Klra6	A	G	6: 129,999,588 (GRCm39)	Y127H	probably damaging	Het
Lypd10	T	C	7: 24,412,967 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,782,958 (GRCm39)	L456P	probably damaging	Het
Mink1	T	C	11: 70,497,861 (GRCm39)	L488P	probably benign	Het
Mndal	T	A	1: 173,687,788 (GRCm39)	E482V	probably benign	Het
Mob1b	G	A	5: 88,901,021 (GRCm39)	V143I	probably benign	Het
Msh4	T	C	3: 153,577,995 (GRCm39)	E433G	probably benign	Het
Myof	A	T	19: 37,974,536 (GRCm39)	I201N	probably damaging	Het
Naip1	G	A	13: 100,559,578 (GRCm39)	S1142F	probably benign	Het
Ntsr1	G	A	2: 180,180,549 (GRCm39)	S285N	probably benign	Het
Or2ak6	C	T	11: 58,593,324 (GRCm39)	H266Y	probably damaging	Het
Or4k2	A	G	14: 50,424,654 (GRCm39)	S7P	probably damaging	Het
Or51b4	T	A	7: 103,531,384 (GRCm39)	H22L	possibly damaging	Het
Or52ab7	A	G	7: 102,978,245 (GRCm39)	Y184C	probably damaging	Het
P2rx4	A	G	5: 122,865,296 (GRCm39)	E307G	probably damaging	Het
Pcdh15	A	G	10: 74,286,145 (GRCm39)	D793G	probably damaging	Het
Rpap1	G	A	2: 119,601,750 (GRCm39)	R737W	probably damaging	Het
Shtn1	T	A	19: 58,963,447 (GRCm39)	T623S	probably benign	Het
Sntg1	A	G	1: 8,515,343 (GRCm39)	C397R	possibly damaging	Het
Stat5a	T	C	11: 100,771,886 (GRCm39)	F646S	probably damaging	Het
Tacc2	A	G	7: 130,330,304 (GRCm39)	E196G	possibly damaging	Het
Tcf25	T	C	8: 124,108,212 (GRCm39)	V89A	probably benign	Het
Trim7	G	T	11: 48,740,532 (GRCm39)	V210L	probably damaging	Het
Vmn2r57	A	G	7: 41,077,635 (GRCm39)	M177T	possibly damaging	Het
Wwc2	G	A	8: 48,281,799 (GRCm39)		probably benign	Het
Zfp28	A	G	7: 6,392,779 (GRCm39)	I152V	possibly damaging	Het
Zfp628	A	G	7: 4,923,182 (GRCm39)	H468R	probably damaging	Het
Zfp770	A	G	2: 114,027,608 (GRCm39)	Y154H	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
IGL03290:Rpusd4	APN	9	35,179,273 (GRCm39)	missense	probably benign
R0607:Rpusd4	UTSW	9	35,179,289 (GRCm39)	missense	possibly damaging	0.93
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

Predicted Primers

PCR Primer
(F):5'- TGGCACCCATTTCTTAAAAGGCCAG -3'
(R):5'- CCAGCAGGCTTTCCCACATTACAG -3'

Sequencing Primer
(F):5'- CTCATCAATAAGTTTCTCTGGTATGG -3'
(R):5'- CTTGTCATCTGTTCCAAGTGAGAAG -3'

Posted On

2014-01-29