Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02484:Pus7l'

295353

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pus7l

Ensembl Gene

ENSMUSG00000033356

Gene Name

pseudouridylate synthase 7-like

Synonyms

3000003F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02484

Quality Score

Status

Chromosome

Chromosomal Location

94420569-94441428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94427369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 471 (V471A)

Ref Sequence

ENSEMBL: ENSMUSP00000044075 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049151]

AlphaFold

Q8CE46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049151
AA Change: V471A

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: V471A

Domain	Start	End	E-Value	Type
Pfam:TruD	280	697	1e-70	PFAM

Meta Mutation Damage Score

0.0844

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	C	7: 29,262,777 (GRCm39)		noncoding transcript	Het
Araf	A	G	X: 20,720,148 (GRCm39)		probably benign	Het
Arrb2	T	A	11: 70,330,300 (GRCm39)	V308E	probably damaging	Het
Asap3	A	G	4: 135,956,768 (GRCm39)		probably benign	Het
Astn2	G	A	4: 65,910,516 (GRCm39)		probably benign	Het
Cactin	T	A	10: 81,158,808 (GRCm39)	I258N	probably benign	Het
Calhm6	T	C	10: 34,002,400 (GRCm39)	T228A	probably benign	Het
Catsperg1	T	C	7: 28,910,345 (GRCm39)		probably benign	Het
Ccna1	C	T	3: 54,955,915 (GRCm39)	D146N	probably benign	Het
Chrna3	T	C	9: 54,922,821 (GRCm39)	Y329C	probably damaging	Het
Ctps2	G	A	X: 161,693,005 (GRCm39)	G56D	probably damaging	Het
Cyp4b1	T	C	4: 115,504,754 (GRCm39)	D44G	probably benign	Het
D3Ertd751e	A	G	3: 41,708,155 (GRCm39)		probably null	Het
Daxx	T	C	17: 34,131,216 (GRCm39)	V381A	probably damaging	Het
Dhx37	T	A	5: 125,496,401 (GRCm39)	I714F	possibly damaging	Het
Dnah7b	T	C	1: 46,234,478 (GRCm39)	V1470A	probably damaging	Het
Efl1	T	C	7: 82,332,247 (GRCm39)	I297T	probably damaging	Het
Fnd3c2	A	T	X: 105,289,092 (GRCm39)	H442Q	probably damaging	Het
Glp2r	A	C	11: 67,630,992 (GRCm39)	V126G	possibly damaging	Het
Gm5699	G	T	1: 31,037,843 (GRCm39)		noncoding transcript	Het
Gpt2	A	G	8: 86,242,862 (GRCm39)	D298G	probably damaging	Het
Gse1	G	T	8: 121,302,001 (GRCm39)		probably benign	Het
Hand1	T	C	11: 57,722,420 (GRCm39)	T65A	probably benign	Het
Ints8	G	A	4: 11,208,834 (GRCm39)	Q955*	probably null	Het
Lrguk	C	T	6: 34,069,726 (GRCm39)	P534S	probably damaging	Het
Lrp6	A	G	6: 134,518,886 (GRCm39)	F60L	probably benign	Het
Mamld1	T	C	X: 70,162,258 (GRCm39)	I423T	possibly damaging	Het
Mrpl22	G	A	11: 58,063,888 (GRCm39)	S36N	possibly damaging	Het
Mug2	A	G	6: 122,049,712 (GRCm39)	E915G	probably damaging	Het
Oosp2	T	C	19: 11,628,847 (GRCm39)	T85A	probably benign	Het
Or5b94	T	C	19: 12,652,223 (GRCm39)	F218S	possibly damaging	Het
Or5p68	C	T	7: 107,945,813 (GRCm39)	R125Q	probably damaging	Het
Pde4c	T	A	8: 71,200,701 (GRCm39)		probably benign	Het
Pdxdc1	T	C	16: 13,693,945 (GRCm39)	E159G	possibly damaging	Het
Poln	T	C	5: 34,286,721 (GRCm39)	E149G	probably damaging	Het
Pou5f2	T	G	13: 78,174,024 (GRCm39)	L322R	probably damaging	Het
Ppm1k	A	T	6: 57,501,997 (GRCm39)	S55R	possibly damaging	Het
Ptges2	T	A	2: 32,287,719 (GRCm39)	I149N	probably damaging	Het
Raet1e	A	T	10: 22,056,666 (GRCm39)	M81L	probably benign	Het
Sipa1l3	A	G	7: 29,098,956 (GRCm39)	S438P	probably damaging	Het
Skint5	T	A	4: 113,799,750 (GRCm39)	K126*	probably null	Het
Stfa2	T	C	16: 36,225,569 (GRCm39)	T37A	probably damaging	Het
Ttll12	A	G	15: 83,465,897 (GRCm39)	I433T	possibly damaging	Het
Vmn2r32	C	T	7: 7,467,116 (GRCm39)	G804D	probably damaging	Het
Zc3h14	A	G	12: 98,740,560 (GRCm39)	T84A	probably benign	Het

Other mutations in Pus7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Pus7l	APN	15	94,429,493 (GRCm39)	missense	probably benign	0.07
IGL02049:Pus7l	APN	15	94,438,059 (GRCm39)	missense	probably damaging	1.00
IGL02731:Pus7l	APN	15	94,421,345 (GRCm39)	missense	probably benign	0.03
IGL03252:Pus7l	APN	15	94,423,691 (GRCm39)	missense	probably benign	0.00
IGL03392:Pus7l	APN	15	94,434,449 (GRCm39)	missense	probably damaging	1.00
R0638:Pus7l	UTSW	15	94,421,298 (GRCm39)	missense	probably benign	0.20
R0848:Pus7l	UTSW	15	94,438,393 (GRCm39)	missense	probably benign	0.16
R1646:Pus7l	UTSW	15	94,431,517 (GRCm39)	missense	probably benign	0.33
R1785:Pus7l	UTSW	15	94,438,518 (GRCm39)	missense	probably benign	0.04
R2046:Pus7l	UTSW	15	94,438,666 (GRCm39)	missense	probably benign	0.01
R2206:Pus7l	UTSW	15	94,421,471 (GRCm39)	missense	probably damaging	1.00
R2210:Pus7l	UTSW	15	94,438,173 (GRCm39)	missense	possibly damaging	0.95
R3618:Pus7l	UTSW	15	94,425,788 (GRCm39)	missense	probably damaging	0.97
R4485:Pus7l	UTSW	15	94,421,371 (GRCm39)	missense	probably benign	0.00
R4487:Pus7l	UTSW	15	94,429,498 (GRCm39)	missense	possibly damaging	0.46
R4686:Pus7l	UTSW	15	94,438,092 (GRCm39)	missense	probably damaging	1.00
R4739:Pus7l	UTSW	15	94,438,591 (GRCm39)	missense	probably benign	0.02
R4975:Pus7l	UTSW	15	94,427,369 (GRCm39)	missense	possibly damaging	0.70
R5431:Pus7l	UTSW	15	94,427,367 (GRCm39)	missense	probably damaging	1.00
R5567:Pus7l	UTSW	15	94,425,746 (GRCm39)	missense	probably benign	0.00
R5570:Pus7l	UTSW	15	94,425,746 (GRCm39)	missense	probably benign	0.00
R5896:Pus7l	UTSW	15	94,427,332 (GRCm39)	splice site	probably null
R6408:Pus7l	UTSW	15	94,429,456 (GRCm39)	missense	probably benign	0.06
R6681:Pus7l	UTSW	15	94,425,746 (GRCm39)	missense	probably benign	0.00
R7344:Pus7l	UTSW	15	94,438,498 (GRCm39)	missense	probably benign	0.01
R7811:Pus7l	UTSW	15	94,438,707 (GRCm39)	missense	probably damaging	1.00
R8412:Pus7l	UTSW	15	94,425,856 (GRCm39)	missense	probably benign	0.44
R8833:Pus7l	UTSW	15	94,438,143 (GRCm39)	missense	probably damaging	0.98
R9177:Pus7l	UTSW	15	94,431,445 (GRCm39)	missense	probably benign	0.00
R9268:Pus7l	UTSW	15	94,431,445 (GRCm39)	missense	probably benign	0.00
R9503:Pus7l	UTSW	15	94,438,666 (GRCm39)	missense	probably benign	0.01
R9525:Pus7l	UTSW	15	94,438,764 (GRCm39)	missense	probably damaging	1.00
R9526:Pus7l	UTSW	15	94,425,781 (GRCm39)	missense	probably damaging	1.00
X0065:Pus7l	UTSW	15	94,438,654 (GRCm39)	missense	possibly damaging	0.87
X0066:Pus7l	UTSW	15	94,427,374 (GRCm39)	missense	possibly damaging	0.61

Posted On

2015-04-16