Mutagenetix > Incidental Mutation

Incidental Mutation 'R7992:Pus7'

651798

Institutional Source

Beutler Lab

Gene Symbol

Pus7

Ensembl Gene

ENSMUSG00000057541

Gene Name

pseudouridylate synthase 7

Synonyms

C330017I15Rik

MMRRC Submission

046033-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R7992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23945646-23988709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23951465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 534 (M534T)

Ref Sequence

ENSEMBL: ENSMUSP00000114588 (fasta)

Gene Model

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

AlphaFold

Q91VU7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119946
AA Change: M528T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: M528T

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

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

possibly damaging
Transcript: ENSMUST00000131992
AA Change: M528T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: M528T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148618
AA Change: M534T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: M534T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	G	15: 11,310,904 (GRCm39)	T1054A	probably benign	Het
Ankfn1	A	C	11: 89,413,859 (GRCm39)	I172S	probably benign	Het
Ano3	T	C	2: 110,605,367 (GRCm39)	T280A	possibly damaging	Het
Arhgef37	T	A	18: 61,638,827 (GRCm39)	E307D	probably benign	Het
Bptf	C	T	11: 107,001,709 (GRCm39)	V468I	probably benign	Het
Ces1b	A	G	8: 93,786,987 (GRCm39)	V464A	probably benign	Het
Cmc2	A	T	8: 117,616,446 (GRCm39)	L93*	probably null	Het
Ddx60	A	G	8: 62,407,569 (GRCm39)	D360G	probably benign	Het
Dock6	C	T	9: 21,744,135 (GRCm39)		probably null	Het
Erp44	A	G	4: 48,218,136 (GRCm39)	F178L	possibly damaging	Het
Fam47e	T	C	5: 92,722,541 (GRCm39)	V79A	probably damaging	Het
Fancd2	T	C	6: 113,542,165 (GRCm39)	S770P	probably damaging	Het
Fcgr1	A	G	3: 96,191,897 (GRCm39)	F304L	probably benign	Het
Fkbp15	T	C	4: 62,230,538 (GRCm39)	E725G	probably damaging	Het
Fn1	T	C	1: 71,638,825 (GRCm39)	I1971V	probably benign	Het
Gdf6	A	G	4: 9,844,652 (GRCm39)	S59G	probably benign	Het
Gm5773	T	A	3: 93,680,373 (GRCm39)	I15N	possibly damaging	Het
Hesx1	T	C	14: 26,723,379 (GRCm39)	S70P	probably benign	Het
Htr5a	T	C	5: 28,055,995 (GRCm39)	S329P	probably damaging	Het
Htt	T	C	5: 34,987,225 (GRCm39)		probably null	Het
Iba57	T	A	11: 59,052,288 (GRCm39)	M118L	unknown	Het
Ifi35	C	T	11: 101,348,307 (GRCm39)	Q112*	probably null	Het
Il12rb1	G	T	8: 71,265,233 (GRCm39)	R183L	possibly damaging	Het
Il12rb2	A	T	6: 67,328,311 (GRCm39)	Y306*	probably null	Het
Ints1	C	G	5: 139,742,282 (GRCm39)	D1722H	probably damaging	Het
Ipp	T	G	4: 116,381,453 (GRCm39)	D317E	probably damaging	Het
Kif26a	A	G	12: 112,142,481 (GRCm39)	T912A	probably benign	Het
Klhdc7a	A	G	4: 139,693,045 (GRCm39)	V634A	probably damaging	Het
Klhl40	C	A	9: 121,607,748 (GRCm39)	P303T	probably damaging	Het
Krt13	T	C	11: 100,008,478 (GRCm39)	T420A	unknown	Het
Lpcat2	T	C	8: 93,582,186 (GRCm39)	F35S	probably damaging	Het
Macf1	A	G	4: 123,289,753 (GRCm39)	V5470A	probably damaging	Het
Mta2	T	C	19: 8,925,151 (GRCm39)		probably null	Het
Muc16	G	T	9: 18,567,725 (GRCm39)	T1598K	unknown	Het
Nckap5	A	T	1: 125,954,547 (GRCm39)	N668K	probably damaging	Het
Nlrp4a	A	T	7: 26,150,070 (GRCm39)	D559V	possibly damaging	Het
Npat	T	C	9: 53,474,167 (GRCm39)	L653P	probably benign	Het
Oog1	G	A	12: 87,655,252 (GRCm39)	V467I	possibly damaging	Het
Or4c15b	A	G	2: 89,113,082 (GRCm39)	S132P	probably benign	Het
Or4f56	C	T	2: 111,703,280 (GRCm39)	A307T	probably benign	Het
Pdzph1	T	A	17: 59,186,105 (GRCm39)	M1229L	possibly damaging	Het
Piwil4	T	A	9: 14,614,445 (GRCm39)	Q106L		Het
Plekha5	C	A	6: 140,472,267 (GRCm39)	R65S	probably damaging	Het
Ptger4	T	C	15: 5,264,381 (GRCm39)	Y425C	probably damaging	Het
Rtkn2	C	T	10: 67,875,923 (GRCm39)	P411S	probably damaging	Het
Scand1	G	A	2: 156,154,232 (GRCm39)	P13S	unknown	Het
Scaper	T	C	9: 55,765,438 (GRCm39)	H550R	probably benign	Het
Senp5	T	A	16: 31,796,514 (GRCm39)	K617I	probably damaging	Het
Shq1	A	G	6: 100,613,972 (GRCm39)	L282P	probably damaging	Het
Slc12a6	T	A	2: 112,166,256 (GRCm39)	C227S	probably damaging	Het
Slc5a9	T	A	4: 111,747,729 (GRCm39)	T284S	probably benign	Het
Stat2	T	A	10: 128,120,831 (GRCm39)	F579L	probably damaging	Het
Tes	G	T	6: 17,096,242 (GRCm39)	A77S	possibly damaging	Het
Themis	A	T	10: 28,637,342 (GRCm39)	T149S	probably benign	Het
Tmprss6	C	T	15: 78,326,664 (GRCm39)	R653H	probably benign	Het
Trmt6	G	A	2: 132,652,959 (GRCm39)	L107F	probably damaging	Het
Trpm6	T	C	19: 18,792,714 (GRCm39)	C713R	probably damaging	Het
Trpm7	T	C	2: 126,667,454 (GRCm39)	I820V	probably benign	Het
Usp45	G	A	4: 21,824,543 (GRCm39)	A432T	probably benign	Het
Xab2	A	T	8: 3,668,622 (GRCm39)	V82E	possibly damaging	Het
Zfp938	T	A	10: 82,061,777 (GRCm39)	Y281F	possibly damaging	Het

Other mutations in Pus7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01301:Pus7	APN	5	23,951,422 (GRCm39)	critical splice donor site	probably null
IGL01690:Pus7	APN	5	23,980,962 (GRCm39)	missense	probably damaging	1.00
IGL01813:Pus7	APN	5	23,965,302 (GRCm39)	splice site	probably benign
IGL02257:Pus7	APN	5	23,967,459 (GRCm39)	missense	probably damaging	1.00
IGL02892:Pus7	APN	5	23,959,554 (GRCm39)	missense	probably damaging	1.00
pyrite	UTSW	5	23,965,244 (GRCm39)	missense	probably damaging	0.99
ANU18:Pus7	UTSW	5	23,951,422 (GRCm39)	critical splice donor site	probably null
R0010:Pus7	UTSW	5	23,952,843 (GRCm39)	missense	probably benign	0.01
R0139:Pus7	UTSW	5	23,983,090 (GRCm39)	missense	probably damaging	0.99
R0219:Pus7	UTSW	5	23,980,964 (GRCm39)	missense	possibly damaging	0.48
R1127:Pus7	UTSW	5	23,973,793 (GRCm39)	missense	probably benign	0.04
R1655:Pus7	UTSW	5	23,952,798 (GRCm39)	nonsense	probably null
R1795:Pus7	UTSW	5	23,946,914 (GRCm39)	missense	probably damaging	1.00
R1906:Pus7	UTSW	5	23,983,209 (GRCm39)	missense	probably damaging	0.98
R4379:Pus7	UTSW	5	23,953,864 (GRCm39)	intron	probably benign
R4430:Pus7	UTSW	5	23,951,487 (GRCm39)	missense	probably benign	0.30
R4431:Pus7	UTSW	5	23,951,487 (GRCm39)	missense	probably benign	0.30
R5569:Pus7	UTSW	5	23,953,832 (GRCm39)	missense	probably benign	0.01
R6854:Pus7	UTSW	5	23,973,845 (GRCm39)	synonymous	silent
R7051:Pus7	UTSW	5	23,980,677 (GRCm39)	missense	probably damaging	0.98
R7238:Pus7	UTSW	5	23,983,450 (GRCm39)	missense	probably benign	0.00
R7278:Pus7	UTSW	5	23,957,342 (GRCm39)	missense	probably damaging	0.99
R7297:Pus7	UTSW	5	23,946,908 (GRCm39)	missense	probably damaging	1.00
R7540:Pus7	UTSW	5	23,965,244 (GRCm39)	missense	probably damaging	0.99
R7650:Pus7	UTSW	5	23,965,244 (GRCm39)	missense	probably damaging	0.99
R8843:Pus7	UTSW	5	23,980,754 (GRCm39)	missense	probably benign	0.00
R8887:Pus7	UTSW	5	23,948,476 (GRCm39)	nonsense	probably null
R9102:Pus7	UTSW	5	23,957,380 (GRCm39)	missense	possibly damaging	0.93
R9485:Pus7	UTSW	5	23,973,859 (GRCm39)	missense	probably benign	0.01
X0013:Pus7	UTSW	5	23,957,273 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTTCCTGGAAGACCTTCACC -3'
(R):5'- AGATTTAGCCCCTTGCCCAC -3'

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

Posted On

2020-09-15