Mutagenetix > Incidental Mutations

Incidental Mutation 'R4430:Pus7'

328557

Institutional Source

Beutler Lab

Gene Symbol

Pus7

Ensembl Gene

ENSMUSG00000057541

Gene Name

pseudouridylate synthase 7

Synonyms

MMRRC Submission

041700-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.743) question?

Stock #

R4430 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23740648-23783711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23746489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 521 (Y521H)

Ref Sequence

ENSEMBL: ENSMUSP00000123129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119946] [ENSMUST00000131992] [ENSMUST00000148618]

AlphaFold

Q91VU7

Predicted Effect

probably benign
Transcript: ENSMUST00000119946
AA Change: Y521H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: Y521H

Domain	Start	End	E-Value	Type
low complexity region	77	99	N/A	INTRINSIC
Pfam:TruD	246	641	9e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129848

Predicted Effect

probably benign
Transcript: ENSMUST00000131404

SMART Domains

Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541

Domain	Start	End	E-Value	Type
Pfam:TruD	1	184	3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131992
AA Change: Y521H

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: Y521H

Domain	Start	End	E-Value	Type
low complexity region	77	99	N/A	INTRINSIC
Pfam:TruD	239	641	1.3e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147922

Predicted Effect

probably benign
Transcript: ENSMUST00000148618
AA Change: Y527H

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: Y527H

Domain	Start	End	E-Value	Type
low complexity region	77	99	N/A	INTRINSIC
Pfam:TruD	251	647	6.3e-69	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148921

Meta Mutation Damage Score

0.0873

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Aak1	A	G	6: 86,986,366	N926S	unknown	Het
Ahi1	T	A	10: 20,972,078	C462S	probably damaging	Het
Ahnak	A	G	19: 9,003,040	I563V	probably benign	Het
Ankrd55	G	A	13: 112,323,183		probably null	Het
Bag3	A	G	7: 128,523,923	D22G	probably damaging	Het
Cldn8	A	C	16: 88,562,731	M102R	probably damaging	Het
Col15a1	T	C	4: 47,245,705	F152S	probably damaging	Het
Cxcr2	T	C	1: 74,158,845	I166T	probably benign	Het
Dnah11	T	C	12: 117,983,011	I3113V	probably benign	Het
Gli2	T	C	1: 118,837,244	H1059R	probably benign	Het
Gm14412	C	A	2: 177,315,832	S90I	probably benign	Het
L1td1	A	G	4: 98,737,151	R528G	probably benign	Het
Mcm3	A	T	1: 20,811,993	L449*	probably null	Het
Mif4gd	T	C	11: 115,608,502	T185A	probably benign	Het
Mphosph9	T	C	5: 124,265,446	S840G	possibly damaging	Het
Nim1k	C	A	13: 119,712,542	R272L	possibly damaging	Het
Olfr1079	A	G	2: 86,538,387	I176T	probably damaging	Het
Olfr1457	C	T	19: 13,095,088	V187I	probably benign	Het
Olfr806	T	A	10: 129,738,261	I219F	probably damaging	Het
Pax3	A	G	1: 78,195,324	V83A	probably damaging	Het
Pde3b	C	T	7: 114,534,670	P974S	probably damaging	Het
Pdzd3	C	T	9: 44,249,744	S175N	probably benign	Het
Pglyrp3	T	A	3: 92,031,491	D324E	probably damaging	Het
Ryr2	A	G	13: 11,735,527	S1953P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
Sox5	A	G	6: 144,041,274	I188T	possibly damaging	Het
Spata4	T	C	8: 54,601,843	I86T	probably benign	Het
Ssc5d	T	C	7: 4,943,664	S1006P	probably benign	Het
Stk10	T	C	11: 32,533,552	V50A	possibly damaging	Het
Sytl4	A	G,T	X: 133,949,223	S338R	probably damaging	Homo
Sytl5	A	T	X: 9,960,023	N412Y	probably damaging	Het
Tert	T	A	13: 73,627,475	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,295,786	L185H	probably damaging	Het
Tmem201	A	C	4: 149,731,139	V118G	probably benign	Het
Tmem67	T	A	4: 12,051,473	N785I	possibly damaging	Het
Trhde	A	T	10: 114,503,123	L594Q	probably damaging	Het
Ugt2b37	T	C	5: 87,254,092	M227V	probably benign	Het
Vmn2r22	T	C	6: 123,637,858	T258A	possibly damaging	Het
Vmn2r73	A	T	7: 85,870,241	M503K	probably benign	Het
Zfp54	T	G	17: 21,434,960	V572G	probably damaging	Het

Other mutations in Pus7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Pus7	APN	5	23746424	critical splice donor site	probably null
IGL01690:Pus7	APN	5	23775964	missense	probably damaging	1.00
IGL01813:Pus7	APN	5	23760304	splice site	probably benign
IGL02257:Pus7	APN	5	23762461	missense	probably damaging	1.00
IGL02892:Pus7	APN	5	23754556	missense	probably damaging	1.00
pyrite	UTSW	5	23760246	missense	probably damaging	0.99
ANU18:Pus7	UTSW	5	23746424	critical splice donor site	probably null
R0010:Pus7	UTSW	5	23747845	missense	probably benign	0.01
R0139:Pus7	UTSW	5	23778092	missense	probably damaging	0.99
R0219:Pus7	UTSW	5	23775966	missense	possibly damaging	0.48
R1127:Pus7	UTSW	5	23768795	missense	probably benign	0.04
R1655:Pus7	UTSW	5	23747800	nonsense	probably null
R1795:Pus7	UTSW	5	23741916	missense	probably damaging	1.00
R1906:Pus7	UTSW	5	23778211	missense	probably damaging	0.98
R4379:Pus7	UTSW	5	23748866	intron	probably benign
R4431:Pus7	UTSW	5	23746489	missense	probably benign	0.30
R5569:Pus7	UTSW	5	23748834	missense	probably benign	0.01
R6854:Pus7	UTSW	5	23768847	synonymous	silent
R7051:Pus7	UTSW	5	23775679	missense	probably damaging	0.98
R7238:Pus7	UTSW	5	23778452	missense	probably benign	0.00
R7278:Pus7	UTSW	5	23752344	missense	probably damaging	0.99
R7297:Pus7	UTSW	5	23741910	missense	probably damaging	1.00
R7540:Pus7	UTSW	5	23760246	missense	probably damaging	0.99
R7650:Pus7	UTSW	5	23760246	missense	probably damaging	0.99
R7992:Pus7	UTSW	5	23746467	missense	possibly damaging	0.66
R8843:Pus7	UTSW	5	23775756	missense	probably benign	0.00
R8887:Pus7	UTSW	5	23743478	nonsense	probably null
R9102:Pus7	UTSW	5	23752382	missense	possibly damaging	0.93
X0013:Pus7	UTSW	5	23752275	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGATTAGCCTTCAAGTACCGC -3'
(R):5'- AGTACTGCTGGGAAGTCTTCTG -3'

Sequencing Primer
(F):5'- AAGTACCGCTTCCCACTCTG -3'
(R):5'- CACGGTTCCTCAGCTAATTAAAG -3'

Posted On

2015-07-21