Mutagenetix > Incidental Mutation

Incidental Mutation 'R1655:Pus7'

189012

Institutional Source

Beutler Lab

Gene Symbol

Pus7

Ensembl Gene

ENSMUSG00000057541

Gene Name

pseudouridylate synthase 7

Synonyms

MMRRC Submission

039691-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.722) question?

Stock #

R1655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23740648-23783711 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 23747800 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 512 (K512*)

Ref Sequence

ENSEMBL: ENSMUSP00000114588 (fasta)

Gene Model

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

AlphaFold

Q91VU7

Predicted Effect

probably null
Transcript: ENSMUST00000119946
AA Change: K506*

SMART Domains

Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: K506*

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 null
Transcript: ENSMUST00000131992
AA Change: K506*

SMART Domains

Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: K506*

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 null
Transcript: ENSMUST00000148618
AA Change: K512*

SMART Domains

Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: K512*

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730061H03Rik	A	T	14: 55,560,333 (GRCm38)		probably benign	Het
Abca1	C	T	4: 53,050,964 (GRCm38)	A1582T	probably benign	Het
Acot8	A	T	2: 164,803,108 (GRCm38)	S52T	probably benign	Het
Atcay	C	T	10: 81,213,397 (GRCm38)	V124M	probably damaging	Het
Cep295	C	T	9: 15,340,883 (GRCm38)	E397K	probably damaging	Het
Cfap46	A	T	7: 139,642,520 (GRCm38)	Y1180*	probably null	Het
Clptm1	T	A	7: 19,645,867 (GRCm38)	H148L	probably benign	Het
Clstn3	A	G	6: 124,437,427 (GRCm38)	L743P	probably damaging	Het
Crtc3	A	T	7: 80,598,776 (GRCm38)	M313K	possibly damaging	Het
Csgalnact1	T	A	8: 68,373,689 (GRCm38)	I326F	possibly damaging	Het
Dennd6b	G	T	15: 89,196,340 (GRCm38)	T19K	unknown	Het
Disp1	A	T	1: 183,087,004 (GRCm38)	I1284N	probably benign	Het
Dnah2	A	G	11: 69,473,854 (GRCm38)	Y1992H	probably damaging	Het
Dnah6	C	T	6: 73,205,732 (GRCm38)	V205I	possibly damaging	Het
Dst	G	T	1: 34,282,576 (GRCm38)	G4391*	probably null	Het
Dytn	A	G	1: 63,661,198 (GRCm38)	S258P	probably damaging	Het
Emilin3	T	A	2: 160,910,866 (GRCm38)		probably null	Het
Ermn	C	T	2: 58,052,584 (GRCm38)	V45I	probably benign	Het
Fat4	T	C	3: 38,957,318 (GRCm38)	V2189A	probably damaging	Het
Fcgbpl1	A	T	7: 28,147,110 (GRCm38)	N1076Y	probably damaging	Het
Filip1l	T	C	16: 57,571,851 (GRCm38)	I934T	probably damaging	Het
Gbp9	T	A	5: 105,081,692 (GRCm38)	Q472L	possibly damaging	Het
Gimap5	G	T	6: 48,753,176 (GRCm38)	E227*	probably null	Het
Gsdmc	C	T	15: 63,780,043 (GRCm38)	V240M	probably benign	Het
H2-Q4	G	T	17: 35,382,905 (GRCm38)	V248F	probably damaging	Het
Helz2	T	C	2: 181,234,147 (GRCm38)	E1518G	probably damaging	Het
Hmcn1	A	G	1: 150,630,333 (GRCm38)	V3814A	probably benign	Het
Hoatz	A	T	9: 51,083,621 (GRCm38)	I136N	probably damaging	Het
Ifna7	A	G	4: 88,816,660 (GRCm38)	T145A	probably benign	Het
Itgam	T	A	7: 128,115,163 (GRCm38)	M947K	probably benign	Het
Itpr2	T	G	6: 146,376,148 (GRCm38)	N608H	probably damaging	Het
Klra2	T	A	6: 131,220,211 (GRCm38)	N242I	probably damaging	Het
Lonrf2	A	T	1: 38,811,824 (GRCm38)	L219Q	probably damaging	Het
Ly6c2	T	C	15: 75,108,563 (GRCm38)	I126V	probably benign	Het
Mr1	G	A	1: 155,132,455 (GRCm38)	T258M	probably benign	Het
Mrps35	T	G	6: 147,060,228 (GRCm38)	D200E	possibly damaging	Het
Nbeal2	A	C	9: 110,632,872 (GRCm38)	S1506A	probably damaging	Het
Ncoa7	T	C	10: 30,698,245 (GRCm38)		probably null	Het
Nlrp4a	A	T	7: 26,449,651 (GRCm38)	I228F	possibly damaging	Het
Or13p5	A	G	4: 118,734,999 (GRCm38)	S157G	probably benign	Het
Or5c1	A	G	2: 37,331,939 (GRCm38)	Y64C	probably damaging	Het
Or5p59	A	T	7: 108,103,464 (GRCm38)	I52F	probably damaging	Het
Or8k3	A	G	2: 86,228,080 (GRCm38)	V297A	possibly damaging	Het
Paxx	T	C	2: 25,460,316 (GRCm38)	E93G	probably damaging	Het
Per2	C	A	1: 91,448,768 (GRCm38)	G128W	probably damaging	Het
Piezo1	A	G	8: 122,496,822 (GRCm38)	I796T	probably benign	Het
Pkhd1	A	G	1: 20,584,129 (GRCm38)	S235P	probably damaging	Het
Pole	T	A	5: 110,335,922 (GRCm38)	F259Y	probably damaging	Het
Ralyl	A	T	3: 14,107,236 (GRCm38)	Y55F	probably damaging	Het
Rgs14	T	A	13: 55,383,534 (GRCm38)	M451K	probably benign	Het
Rhag	T	C	17: 40,831,596 (GRCm38)	F231L	probably damaging	Het
Ric8a	T	C	7: 140,860,895 (GRCm38)	C94R	probably benign	Het
Rictor	T	A	15: 6,772,212 (GRCm38)	D460E	probably benign	Het
Rpn1	T	C	6: 88,100,944 (GRCm38)	V454A	possibly damaging	Het
Sacs	A	G	14: 61,191,782 (GRCm38)	D427G	probably benign	Het
Scai	A	T	2: 39,080,117 (GRCm38)	V545D	possibly damaging	Het
Serpinb3a	A	G	1: 107,046,212 (GRCm38)	V323A	probably damaging	Het
Slc13a5	C	A	11: 72,257,378 (GRCm38)	C277F	probably benign	Het
Slc15a1	A	T	14: 121,465,899 (GRCm38)	Y557N	probably benign	Het
Slc34a2	T	C	5: 53,069,419 (GRCm38)	V628A	probably benign	Het
Slc8a2	G	T	7: 16,141,135 (GRCm38)	G436V	probably damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Supt5	T	C	7: 28,330,024 (GRCm38)	I103V	probably benign	Het
Tdrd1	T	A	19: 56,843,216 (GRCm38)	Y346*	probably null	Het
Tg	T	G	15: 66,828,568 (GRCm38)		probably null	Het
Top1	T	A	2: 160,703,696 (GRCm38)		probably null	Het
Trmt12	T	C	15: 58,873,227 (GRCm38)	L158P	probably damaging	Het
Tssk4	A	G	14: 55,651,695 (GRCm38)	N226S	probably damaging	Het
Unc80	G	T	1: 66,672,756 (GRCm38)	V2746F	possibly damaging	Het
Usp34	T	A	11: 23,375,051 (GRCm38)	V999E	probably benign	Het
Virma	T	C	4: 11,494,786 (GRCm38)	V29A	probably damaging	Het
Zfp40	A	T	17: 23,177,266 (GRCm38)	Y48N	probably benign	Het
Zfp609	A	G	9: 65,703,554 (GRCm38)	V709A	possibly damaging	Het

Other mutations in Pus7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Pus7	APN	5	23,746,424 (GRCm38)	critical splice donor site	probably null
IGL01690:Pus7	APN	5	23,775,964 (GRCm38)	missense	probably damaging	1.00
IGL01813:Pus7	APN	5	23,760,304 (GRCm38)	splice site	probably benign
IGL02257:Pus7	APN	5	23,762,461 (GRCm38)	missense	probably damaging	1.00
IGL02892:Pus7	APN	5	23,754,556 (GRCm38)	missense	probably damaging	1.00
pyrite	UTSW	5	23,760,246 (GRCm38)	missense	probably damaging	0.99
ANU18:Pus7	UTSW	5	23,746,424 (GRCm38)	critical splice donor site	probably null
R0010:Pus7	UTSW	5	23,747,845 (GRCm38)	missense	probably benign	0.01
R0139:Pus7	UTSW	5	23,778,092 (GRCm38)	missense	probably damaging	0.99
R0219:Pus7	UTSW	5	23,775,966 (GRCm38)	missense	possibly damaging	0.48
R1127:Pus7	UTSW	5	23,768,795 (GRCm38)	missense	probably benign	0.04
R1795:Pus7	UTSW	5	23,741,916 (GRCm38)	missense	probably damaging	1.00
R1906:Pus7	UTSW	5	23,778,211 (GRCm38)	missense	probably damaging	0.98
R4379:Pus7	UTSW	5	23,748,866 (GRCm38)	intron	probably benign
R4430:Pus7	UTSW	5	23,746,489 (GRCm38)	missense	probably benign	0.30
R4431:Pus7	UTSW	5	23,746,489 (GRCm38)	missense	probably benign	0.30
R5569:Pus7	UTSW	5	23,748,834 (GRCm38)	missense	probably benign	0.01
R6854:Pus7	UTSW	5	23,768,847 (GRCm38)	synonymous	silent
R7051:Pus7	UTSW	5	23,775,679 (GRCm38)	missense	probably damaging	0.98
R7238:Pus7	UTSW	5	23,778,452 (GRCm38)	missense	probably benign	0.00
R7278:Pus7	UTSW	5	23,752,344 (GRCm38)	missense	probably damaging	0.99
R7297:Pus7	UTSW	5	23,741,910 (GRCm38)	missense	probably damaging	1.00
R7540:Pus7	UTSW	5	23,760,246 (GRCm38)	missense	probably damaging	0.99
R7650:Pus7	UTSW	5	23,760,246 (GRCm38)	missense	probably damaging	0.99
R7992:Pus7	UTSW	5	23,746,467 (GRCm38)	missense	possibly damaging	0.66
R8843:Pus7	UTSW	5	23,775,756 (GRCm38)	missense	probably benign	0.00
R8887:Pus7	UTSW	5	23,743,478 (GRCm38)	nonsense	probably null
R9102:Pus7	UTSW	5	23,752,382 (GRCm38)	missense	possibly damaging	0.93
R9485:Pus7	UTSW	5	23,768,861 (GRCm38)	missense	probably benign	0.01
X0013:Pus7	UTSW	5	23,752,275 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACGCTATCAAGCTCACCAGTGCAG -3'
(R):5'- AATTCAGGACGCATTCCCAGCC -3'

Sequencing Primer
(F):5'- TCTGCTATACTTAAGCAGGAGCC -3'
(R):5'- GCCCCACATCAGTTATATGAAATG -3'

Posted On

2014-05-09