Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Pus7'

590739

Institutional Source

Beutler Lab

Gene Symbol

Pus7

Ensembl Gene

ENSMUSG00000057541

Gene Name

pseudouridylate synthase 7

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.654) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23740648-23783711 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23760246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 304 (T304K)

Ref Sequence

ENSEMBL: ENSMUSP00000114588 (fasta)

Gene Model

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

AlphaFold

Q91VU7

Predicted Effect

probably damaging
Transcript: ENSMUST00000119946
AA Change: T298K

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

SMART Domains

Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: T298K

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

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541
AA Change: T35K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000131992
AA Change: T298K

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

SMART Domains

Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: T298K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000148618
AA Change: T304K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: T304K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151449

SMART Domains

Protein: ENSMUSP00000120575
Gene: ENSMUSG00000057541

Domain	Start	End	E-Value	Type
low complexity region	48	70	N/A	INTRINSIC
low complexity region	136	144	N/A	INTRINSIC

Meta Mutation Damage Score

0.9222

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,699,789	V3I	probably benign	Het
Adam33	T	C	2: 131,061,147	E59G	probably damaging	Het
Akap13	T	A	7: 75,643,454	V45E	probably benign	Het
Ap1s1	A	G	5: 137,045,533	S28P	probably benign	Het
Btnl2	T	C	17: 34,358,129	L86P	probably damaging	Het
Carm1	G	A	9: 21,580,372	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,354,116	D283N	probably benign	Het
Cfap58	C	A	19: 47,986,528	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,314,453	D195G	probably benign	Het
Dcaf1	A	G	9: 106,838,344	D220G	probably benign	Het
Ddias	C	T	7: 92,858,935	G591R	probably benign	Het
Defb22	A	T	2: 152,486,103	I54K	probably benign	Het
Dennd4b	G	A	3: 90,268,749	W202*	probably null	Het
F2	T	C	2: 91,628,396	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,939,907	Y2819H	unknown	Het
Fanca	A	T	8: 123,268,564		probably null	Het
Fezf2	T	C	14: 12,342,653	H404R	probably damaging	Het
Fry	A	G	5: 150,413,418	N1418S	probably damaging	Het
Gak	A	G	5: 108,584,295	S776P	probably benign	Het
Gbf1	A	G	19: 46,272,539	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,437,098	E294K	probably benign	Het
Gje1	G	A	10: 14,716,424	R205*	probably null	Het
Gm12569	G	A	11: 51,234,786	E179K	possibly damaging	Het
Gm8206	T	C	14: 6,055,211		probably null	Het
Gpr162	T	A	6: 124,861,843		probably benign	Het
Gxylt1	C	T	15: 93,245,658	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,383,899	M396L	probably benign	Het
Ice1	A	G	13: 70,589,797	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,605,483	Q828L	probably damaging	Het
Il10	A	T	1: 131,021,455	T118S	probably benign	Het
Itpr2	C	T	6: 146,233,994	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,618,548	Q100L	probably damaging	Het
Kin	A	G	2: 10,092,168	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,346,943	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,850,870	A2858T	unknown	Het
Krt8	G	A	15: 102,004,163	T26M	probably benign	Het
Lama3	T	A	18: 12,537,838	M827K	probably benign	Het
Lingo3	T	C	10: 80,835,763	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Metap1	A	G	3: 138,466,367	V263A	probably damaging	Het
Muc5ac	A	G	7: 141,809,422	T2157A	unknown	Het
Myo1d	G	T	11: 80,601,684	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,817,839	N419K	probably benign	Het
Nol10	T	C	12: 17,362,682		probably null	Het
Nrcam	T	C	12: 44,547,322	L284P	probably damaging	Het
Nrp1	T	A	8: 128,498,014	W753R	possibly damaging	Het
Obscn	A	G	11: 59,060,994	S3978P	probably benign	Het
Olfr181	T	A	16: 58,926,053	R173*	probably null	Het
Olfr968	A	T	9: 39,771,873	F309Y	probably benign	Het
Opa3	C	A	7: 19,244,971	N120K	probably benign	Het
Pabpc1l	T	C	2: 164,049,590	L576S	probably benign	Het
Panx3	A	G	9: 37,661,405	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,309,614	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,699,107		probably null	Het
Pkd1l3	T	C	8: 109,672,585	V2200A	probably benign	Het
Pkp3	G	A	7: 141,082,370	M112I	probably benign	Het
Prex2	T	C	1: 11,149,854	I683T	possibly damaging	Het
Psg22	C	A	7: 18,726,759	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,906,951	V56A	possibly damaging	Het
Rab38	T	C	7: 88,430,429	Y10H	possibly damaging	Het
Ros1	C	T	10: 52,046,209	G2277D	probably benign	Het
Rpain	A	T	11: 70,970,445		probably benign	Het
Shh	C	A	5: 28,458,306	S288I	probably benign	Het
Slc26a5	C	T	5: 21,834,330	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348	E773K	probably benign	Het
Slit1	T	A	19: 41,629,924	N771I	probably damaging	Het
Stim1	T	A	7: 102,428,827	S179T		Het
Syk	A	G	13: 52,611,095	D86G	probably benign	Het
Tmem132b	T	G	5: 125,787,010	S727A	probably benign	Het
Trim42	T	A	9: 97,363,148	Y533F	probably benign	Het
Trpm6	A	T	19: 18,876,013	D1799V	possibly damaging	Het
Ttc26	T	A	6: 38,395,040	N188K	probably benign	Het
Ube4a	A	T	9: 44,933,436	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,080,972	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,390,924	Q290L	possibly damaging	Het
Vcl	T	A	14: 20,995,046	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,871,939	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,793,650	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,883,753	L31P	probably damaging	Het
Zfp536	C	A	7: 37,569,692	V100L	probably damaging	Het
Zfp942	A	T	17: 21,928,837	S270R	probably benign	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
R4430:Pus7	UTSW	5	23746489	missense	probably benign	0.30
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
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
R9485:Pus7	UTSW	5	23768861	missense	probably benign	0.01
X0013:Pus7	UTSW	5	23752275	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTGTTTCCTAGGTGAATGTTAAAGG -3'
(R):5'- AAAGGCTCTGACTCAAGCCC -3'

Sequencing Primer
(F):5'- TTTCTGAGTCCAATCCAAAGGAGG -3'
(R):5'- ACTCAAGCCCTGCCGAGAG -3'

Posted On

2019-10-24