Mutagenetix > Incidental Mutation

Incidental Mutation 'R5431:Pus7l'

428071

Institutional Source

Beutler Lab

Gene Symbol

Pus7l

Ensembl Gene

ENSMUSG00000033356

Gene Name

pseudouridylate synthase 7-like

Synonyms

3000003F02Rik

MMRRC Submission

042847-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94420569-94441428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94427367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 472 (N472D)

Ref Sequence

ENSEMBL: ENSMUSP00000044075 (fasta)

Gene Model

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

AlphaFold

Q8CE46

Predicted Effect

probably damaging
Transcript: ENSMUST00000049151
AA Change: N472D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: N472D

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,504,426 (GRCm39)	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,128,045 (GRCm39)	T27A	probably benign	Het
Aspg	T	A	12: 112,089,846 (GRCm39)	N461K	probably benign	Het
B4galnt3	T	A	6: 120,195,928 (GRCm39)	T300S	probably damaging	Het
BC035044	A	G	6: 128,861,970 (GRCm39)		probably benign	Het
Bmp5	C	T	9: 75,800,991 (GRCm39)	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 57,090,928 (GRCm39)	F78L	probably benign	Het
Cds2	T	A	2: 132,144,090 (GRCm39)	S289T	probably benign	Het
Cerkl	C	T	2: 79,171,679 (GRCm39)	C393Y	probably damaging	Het
Cibar2	C	A	8: 120,894,042 (GRCm39)		probably null	Het
Ciita	C	T	16: 10,341,656 (GRCm39)	R1020C	probably damaging	Het
Dcaf13	C	A	15: 38,986,619 (GRCm39)	D130E	probably benign	Het
Dnal4	C	T	15: 79,646,648 (GRCm39)	G50R	probably damaging	Het
Elfn1	A	G	5: 139,957,323 (GRCm39)	N109S	probably damaging	Het
Ep400	A	G	5: 110,824,420 (GRCm39)	V2435A	unknown	Het
Fam178b	T	C	1: 36,671,566 (GRCm39)	E185G	probably damaging	Het
Fam227b	C	A	2: 125,968,851 (GRCm39)	L74F	probably benign	Het
Fgfr4	G	A	13: 55,304,464 (GRCm39)	V138I	probably benign	Het
Flnc	A	G	6: 29,456,383 (GRCm39)	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,393,390 (GRCm39)	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Ggt6	A	G	11: 72,328,564 (GRCm39)	T355A	possibly damaging	Het
Gm14393	G	A	2: 174,905,669 (GRCm39)	T41I	probably damaging	Het
Gpr151	A	C	18: 42,711,932 (GRCm39)	S249A	probably damaging	Het
Gpr152	T	A	19: 4,193,746 (GRCm39)	V429D	probably benign	Het
Grm7	G	A	6: 111,335,387 (GRCm39)	M599I	probably benign	Het
Hdac4	T	A	1: 91,900,512 (GRCm39)	R54*	probably null	Het
Ice1	A	G	13: 70,740,769 (GRCm39)	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588 (GRCm39)	V183I	probably benign	Het
Kel	G	A	6: 41,675,354 (GRCm39)	S299F	probably benign	Het
Kif14	T	C	1: 136,424,433 (GRCm39)	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,091,130 (GRCm39)	D395G	probably damaging	Het
Micu1	T	C	10: 59,586,343 (GRCm39)	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nbn	C	T	4: 15,986,593 (GRCm39)	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,188,060 (GRCm39)	T3416K	probably benign	Het
Plxnb1	T	C	9: 108,929,840 (GRCm39)	F232S	probably damaging	Het
Rfx1	C	T	8: 84,809,349 (GRCm39)	Q225*	probably null	Het
Rnase2a	T	C	14: 51,493,020 (GRCm39)	Y115C	possibly damaging	Het
Ryr1	T	A	7: 28,809,237 (GRCm39)	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Homo
Sgcz	T	A	8: 38,107,138 (GRCm39)	T125S	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Syt2	A	G	1: 134,668,695 (GRCm39)	S36G	probably benign	Het
Tcaf3	A	G	6: 42,574,119 (GRCm39)	L31P	probably damaging	Het
Tenm3	C	A	8: 48,820,412 (GRCm39)	E142*	probably null	Het
Tgfbr2	G	T	9: 115,960,669 (GRCm39)	S94R	probably damaging	Het
Tut4	T	A	4: 108,348,609 (GRCm39)	I297N	probably damaging	Het
Vmn2r12	A	G	5: 109,239,684 (GRCm39)	I293T	probably damaging	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,746,324 (GRCm39)	D511G	possibly damaging	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
IGL02484:Pus7l	APN	15	94,427,369 (GRCm39)	missense	possibly damaging	0.70
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
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

Predicted Primers

PCR Primer
(F):5'- AATGGCTCGCAACGCAAAG -3'
(R):5'- CTCTACATGTGAAGCTGAAGTGTTTG -3'

Sequencing Primer
(F):5'- GCTCGCAACGCAAAGTCCTC -3'
(R):5'- GGTTAATTTCTCCAGGTGAA -3'

Posted On

2016-09-01