Mutagenetix > Incidental Mutation

Incidental Mutation 'R0193:Rpusd3'

23220

Institutional Source

Beutler Lab

Gene Symbol

Rpusd3

Ensembl Gene

ENSMUSG00000051169

Gene Name

RNA pseudouridylate synthase domain containing 3

Synonyms

MMRRC Submission

038452-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R0193 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

113392280-113396301 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 113396198 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 28 (G28S)

Ref Sequence

ENSEMBL: ENSMUSP00000059057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000060634] [ENSMUST00000113092] [ENSMUST00000129047] [ENSMUST00000129560]

AlphaFold

Q14AI6

Predicted Effect

probably benign
Transcript: ENSMUST00000032414

SMART Domains

Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	698	7.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000038889

SMART Domains

Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	214	231	N/A	INTRINSIC
low complexity region	234	248	N/A	INTRINSIC
Pfam:TTL	404	699	9e-85	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060634
AA Change: G28S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059057
Gene: ENSMUSG00000051169
AA Change: G28S

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	82	236	1.8e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104625

Predicted Effect

probably damaging
Transcript: ENSMUST00000113092
AA Change: G28S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108715
Gene: ENSMUSG00000051169
AA Change: G28S

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	82	246	7.4e-20	PFAM
low complexity region	303	312	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124078

Predicted Effect

probably damaging
Transcript: ENSMUST00000129047
AA Change: G28S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120380
Gene: ENSMUSG00000051169
AA Change: G28S

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	82	246	5.9e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129560
AA Change: G28S

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

Predicted Effect

unknown
Transcript: ENSMUST00000151618
AA Change: G26S

SMART Domains

Protein: ENSMUSP00000115950
Gene: ENSMUSG00000051169
AA Change: G26S

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	72	179	5.2e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000147726
AA Change: G25S

SMART Domains

Protein: ENSMUSP00000120250
Gene: ENSMUSG00000051169
AA Change: G25S

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_2	71	235	2.8e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203758

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203880

Meta Mutation Damage Score

0.2067

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.7%
20x: 85.3%

Validation Efficiency

95% (186/196)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,444,005 (GRCm39)	S96P	probably damaging	Het
Akr1c20	A	G	13: 4,561,292 (GRCm39)		probably benign	Het
Atp2a3	G	T	11: 72,863,046 (GRCm39)	V99L	possibly damaging	Het
Atp6v0a1	T	A	11: 100,939,308 (GRCm39)	I691N	possibly damaging	Het
Atp8b1	C	T	18: 64,694,707 (GRCm39)	R525Q	probably benign	Het
Aurkb	A	G	11: 68,939,370 (GRCm39)	D151G	probably damaging	Het
Bank1	A	T	3: 135,772,279 (GRCm39)		probably benign	Het
Bcl9l	T	C	9: 44,418,703 (GRCm39)	L847P	probably damaging	Het
Bscl2	T	A	19: 8,824,793 (GRCm39)	M292K	probably benign	Het
Cacna1c	C	T	6: 118,579,363 (GRCm39)		probably benign	Het
Cadps2	T	C	6: 23,599,439 (GRCm39)	K260R	probably benign	Het
Cc2d2a	T	C	5: 43,893,460 (GRCm39)	S1419P	probably damaging	Het
Ccdc180	G	A	4: 45,914,803 (GRCm39)	E145K	probably benign	Het
Ccno	C	T	13: 113,125,418 (GRCm39)		probably benign	Het
Cd300a	A	G	11: 114,784,202 (GRCm39)	D70G	probably benign	Het
Cenpc1	T	C	5: 86,180,262 (GRCm39)	D670G	probably benign	Het
Cenpl	A	G	1: 160,913,558 (GRCm39)	I323V	probably damaging	Het
Cfap44	A	G	16: 44,269,573 (GRCm39)		probably null	Het
Cfap74	C	T	4: 155,510,572 (GRCm39)	R386C	probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clcnkb	T	C	4: 141,139,627 (GRCm39)	E125G	possibly damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Coro7	G	A	16: 4,445,368 (GRCm39)		probably benign	Het
Dchs1	C	T	7: 105,414,190 (GRCm39)	R875H	probably benign	Het
Eif3j1	A	C	2: 121,882,508 (GRCm39)	M239L	probably benign	Het
Eif4g3	G	T	4: 137,873,687 (GRCm39)		probably benign	Het
Elapor2	A	T	5: 9,472,359 (GRCm39)	Q352L	probably damaging	Het
Erbb4	T	C	1: 68,083,119 (GRCm39)		probably benign	Het
Erlin2	T	G	8: 27,521,792 (GRCm39)	V164G	possibly damaging	Het
Fbxo43	G	T	15: 36,162,029 (GRCm39)	Q393K	probably benign	Het
Fcgr4	A	T	1: 170,853,329 (GRCm39)	N178I	possibly damaging	Het
Grid2	A	G	6: 64,040,937 (GRCm39)	N293S	possibly damaging	Het
H2-M1	C	T	17: 36,982,224 (GRCm39)	V126I	probably benign	Het
Htr1f	T	A	16: 64,747,112 (GRCm39)	Y60F	probably damaging	Het
Ilf2	A	G	3: 90,388,646 (GRCm39)		probably null	Het
Impg2	A	T	16: 56,085,412 (GRCm39)	K931*	probably null	Het
Ints1	T	C	5: 139,737,485 (GRCm39)	E2176G	probably damaging	Het
Iqsec2	T	C	X: 151,006,399 (GRCm39)	V1319A	probably benign	Het
Iqsec3	G	T	6: 121,387,683 (GRCm39)	D685E	probably damaging	Het
Itgbl1	G	A	14: 124,083,958 (GRCm39)	V279I	probably benign	Het
Kdm4b	C	T	17: 56,700,952 (GRCm39)	A541V	probably benign	Het
Kif14	A	T	1: 136,396,176 (GRCm39)	T161S	probably benign	Het
Krt86	T	C	15: 101,377,244 (GRCm39)		probably benign	Het
Kyat1	C	T	2: 30,077,198 (GRCm39)		probably null	Het
Limch1	T	C	5: 67,184,882 (GRCm39)	W791R	probably damaging	Het
Map3k11	T	A	19: 5,745,874 (GRCm39)	M396K	probably damaging	Het
Mat2a	A	G	6: 72,413,178 (GRCm39)		probably null	Het
Mbnl2	A	G	14: 120,616,649 (GRCm39)	I88V	possibly damaging	Het
Mib2	T	C	4: 155,740,130 (GRCm39)	T708A	probably benign	Het
Mix23	T	C	16: 35,903,184 (GRCm39)	S59P	probably damaging	Het
Mkks	T	C	2: 136,719,526 (GRCm39)		probably null	Het
Mtss1	T	C	15: 58,815,866 (GRCm39)	M565V	probably damaging	Het
Myoc	A	G	1: 162,476,604 (GRCm39)	N436S	probably damaging	Het
Myod1	T	A	7: 46,026,536 (GRCm39)	V147E	probably damaging	Het
Ngef	A	G	1: 87,437,056 (GRCm39)	L144P	probably benign	Het
Ngrn	C	T	7: 79,911,678 (GRCm39)	R92W	probably damaging	Het
Nup153	G	A	13: 46,863,130 (GRCm39)	T349I	probably benign	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or52ad1	G	T	7: 102,995,411 (GRCm39)	S241R	possibly damaging	Het
Pigl	A	G	11: 62,394,574 (GRCm39)	I135M	probably damaging	Het
Pitpnm3	A	G	11: 71,961,318 (GRCm39)		probably benign	Het
Pkhd1	A	T	1: 20,429,141 (GRCm39)	F2420I	probably damaging	Het
Polr2b	C	T	5: 77,467,923 (GRCm39)	T119M	probably damaging	Het
Prr29	A	G	11: 106,267,722 (GRCm39)	Y130C	probably damaging	Het
Rab11fip3	T	C	17: 26,209,973 (GRCm39)	I1048V	probably damaging	Het
Rab12	G	A	17: 66,807,357 (GRCm39)	T124I	probably damaging	Het
Rab44	A	G	17: 29,359,281 (GRCm39)	S490G	probably benign	Het
Rasa3	A	G	8: 13,620,233 (GRCm39)		probably null	Het
Rhbdl3	C	T	11: 80,244,400 (GRCm39)	S369L	possibly damaging	Het
Rimbp2	A	T	5: 128,865,420 (GRCm39)	S643T	probably benign	Het
Rin1	T	G	19: 5,102,680 (GRCm39)	S396R	probably damaging	Het
Rtl9	T	A	X: 141,883,274 (GRCm39)	S229T	probably damaging	Het
Rufy1	G	T	11: 50,280,679 (GRCm39)	T701N	probably benign	Het
Scn4a	A	T	11: 106,211,364 (GRCm39)	L1551*	probably null	Het
Sec24b	T	C	3: 129,782,633 (GRCm39)	N1119S	probably null	Het
Serbp1	T	A	6: 67,249,868 (GRCm39)	*75R	probably null	Het
Setx	C	T	2: 29,069,685 (GRCm39)	P2497S	probably benign	Het
Slc26a11	A	T	11: 119,250,140 (GRCm39)	I132F	probably damaging	Het
Slc4a1	A	G	11: 102,243,510 (GRCm39)	V707A	possibly damaging	Het
Slfn1	A	G	11: 83,012,669 (GRCm39)	I262V	probably damaging	Het
Tmem168	T	A	6: 13,583,312 (GRCm39)	D523V	possibly damaging	Het
Traf7	G	T	17: 24,729,525 (GRCm39)	Q469K	probably benign	Het
Trdmt1	C	A	2: 13,549,428 (GRCm39)	V6F	probably damaging	Het
Tsacc	A	T	3: 88,194,395 (GRCm39)		probably benign	Het
Vmn2r5	A	G	3: 64,398,951 (GRCm39)	I589T	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,460 (GRCm39)	D699G	probably damaging	Het
Vmn2r82	T	C	10: 79,217,129 (GRCm39)	V487A	probably damaging	Het
Zbtb47	T	C	9: 121,596,732 (GRCm39)	V696A	probably damaging	Het
Zfp287	A	T	11: 62,605,855 (GRCm39)	S351T	probably benign	Het
Zfp654	T	C	16: 64,606,051 (GRCm39)	H176R	possibly damaging	Het

Other mutations in Rpusd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02268:Rpusd3	APN	6	113,395,818 (GRCm39)	missense	possibly damaging	0.75
R0189:Rpusd3	UTSW	6	113,392,514 (GRCm39)	splice site	probably null
R1700:Rpusd3	UTSW	6	113,392,494 (GRCm39)	makesense	probably null
R2107:Rpusd3	UTSW	6	113,392,523 (GRCm39)	missense	probably damaging	1.00
R4838:Rpusd3	UTSW	6	113,393,837 (GRCm39)	nonsense	probably null
R4928:Rpusd3	UTSW	6	113,393,167 (GRCm39)	unclassified	probably benign
R4965:Rpusd3	UTSW	6	113,393,809 (GRCm39)	missense	probably benign	0.03
R5243:Rpusd3	UTSW	6	113,395,025 (GRCm39)	missense	probably benign	0.36
R6049:Rpusd3	UTSW	6	113,394,802 (GRCm39)	splice site	probably null
R9526:Rpusd3	UTSW	6	113,393,200 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCACCAAGGCTCAAAGGTCCAATG -3'
(R):5'- TGCCTCAGTTTTCCCAAAAGCCAG -3'

Sequencing Primer
(F):5'- TCAAAGGTCCAATGACCTAGTG -3'
(R):5'- TGATTGACAGCCTGCCTGAC -3'

Posted On

2013-04-16