Mutagenetix > Incidental Mutation

Incidental Mutation 'R0638:Pus7l'

56840

Institutional Source

Beutler Lab

Gene Symbol

Pus7l

Ensembl Gene

ENSMUSG00000033356

Gene Name

pseudouridylate synthase 7-like

Synonyms

MMRRC Submission

038827-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94522688-94543547 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94523417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 671 (S671P)

Ref Sequence

ENSEMBL: ENSMUSP00000044075 (fasta)

Gene Model

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

AlphaFold

Q8CE46

Predicted Effect

probably benign
Transcript: ENSMUST00000049151
AA Change: S671P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000044075
Gene: ENSMUSG00000033356
AA Change: S671P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.5%

Validation Efficiency

99% (76/77)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	C	2: 111,200,418	E382G	probably damaging	Het
4932414N04Rik	C	A	2: 68,717,228	Q161K	probably benign	Het
Aatk	A	T	11: 120,009,922	L1216Q	probably damaging	Het
Aifm3	T	C	16: 17,503,671	F463L	possibly damaging	Het
Antxr2	C	T	5: 97,960,637	W338*	probably null	Het
Apc2	T	C	10: 80,304,967	S219P	probably damaging	Het
Arfgap3	A	T	15: 83,308,188		probably null	Het
Arrdc5	A	G	17: 56,300,020	V75A	possibly damaging	Het
Atg16l2	A	T	7: 101,300,110		probably null	Het
Cacna1i	A	G	15: 80,381,080	N1511S	possibly damaging	Het
Cad	T	C	5: 31,077,688	Y2095H	probably damaging	Het
Chia1	T	C	3: 106,128,437		probably benign	Het
Crybg2	A	G	4: 134,074,454	D975G	probably damaging	Het
Dagla	T	C	19: 10,254,883	I480V	probably damaging	Het
Efl1	C	T	7: 82,651,887	T33I	probably damaging	Het
Esp36	A	G	17: 38,417,169	F74L	probably benign	Het
Faim	T	C	9: 98,992,096		probably benign	Het
Fam83h	G	T	15: 76,003,927	H520Q	probably benign	Het
Fbn2	A	T	18: 58,045,374	C1931S	probably damaging	Het
Frs3	A	G	17: 47,701,656	D96G	probably benign	Het
Gbp4	A	G	5: 105,121,840	M374T	probably damaging	Het
Gimap1	C	T	6: 48,741,425		probably benign	Het
Gm10010	A	G	6: 128,200,613		noncoding transcript	Het
Gm10355	T	C	3: 101,306,898		noncoding transcript	Het
Gmip	C	T	8: 69,811,445		probably benign	Het
Gpc2	A	T	5: 138,278,534	F110Y	possibly damaging	Het
Ifi44l	C	T	3: 151,762,759	V45M	probably benign	Het
Il15	T	C	8: 82,343,261	E58G	probably damaging	Het
Kat2b	T	C	17: 53,644,743		probably benign	Het
Kcnh7	C	A	2: 62,777,510	V576L	probably benign	Het
Lrrc66	T	A	5: 73,615,473		probably benign	Het
Mical1	A	G	10: 41,482,239	E416G	probably benign	Het
Mroh3	A	G	1: 136,191,002	Y526H	probably damaging	Het
Mtx2	T	C	2: 74,869,290		probably benign	Het
Naip6	A	T	13: 100,300,528	Y496N	probably benign	Het
Nfyc	A	G	4: 120,768,884	S73P	probably benign	Het
Olfr1418	C	T	19: 11,855,123	V277M	probably damaging	Het
Olfr1418	A	C	19: 11,855,368	V195G	probably damaging	Het
Olfr382	T	A	11: 73,516,924	I92F	probably damaging	Het
Olfr810	T	A	10: 129,791,232	D119V	probably damaging	Het
Olfr995	A	G	2: 85,438,501	I219T	probably benign	Het
P2ry14	A	G	3: 59,115,448	V206A	probably benign	Het
Polg	G	A	7: 79,460,148		probably benign	Het
Ptgs1	G	A	2: 36,240,856		probably benign	Het
Ralgapa2	T	C	2: 146,342,192	T1547A	probably benign	Het
Rif1	T	C	2: 52,111,588	S1685P	probably benign	Het
Rnf213	T	C	11: 119,470,210	Y4452H	probably damaging	Het
Samd7	A	G	3: 30,756,521	D229G	probably benign	Het
Serpina3j	T	C	12: 104,314,819	S84P	possibly damaging	Het
Slc35d1	A	G	4: 103,213,244		probably benign	Het
Sorbs2	A	G	8: 45,796,310	D847G	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Steap4	T	C	5: 7,977,030		probably benign	Het
Tg	A	C	15: 66,717,208	T13P	probably damaging	Het
Timeless	T	A	10: 128,244,673	Y474*	probably null	Het
Tmem94	T	C	11: 115,792,060		probably null	Het
Trdmt1	G	A	2: 13,516,648		probably benign	Het
Trim23	T	C	13: 104,201,309	Y522H	probably benign	Het
Ttc13	A	T	8: 124,674,366	S624T	probably damaging	Het
Txnl1	A	G	18: 63,692,064		probably benign	Het
Unkl	T	C	17: 25,208,083		probably benign	Het
Usp54	T	A	14: 20,589,369		probably benign	Het
Vcam1	T	C	3: 116,117,259	K497E	possibly damaging	Het
Vmn1r49	C	A	6: 90,072,666	S118I	possibly damaging	Het
Vmn2r118	T	C	17: 55,608,466	K495E	probably benign	Het
Wrnip1	G	A	13: 32,821,090	C560Y	possibly damaging	Het
Xkr5	T	C	8: 18,933,547	R660G	probably benign	Het
Zfp280c	A	G	X: 48,548,703		probably benign	Het
Zfp707	G	A	15: 75,975,129	A291T	possibly damaging	Het

Other mutations in Pus7l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Pus7l	APN	15	94531612	missense	probably benign	0.07
IGL02049:Pus7l	APN	15	94540178	missense	probably damaging	1.00
IGL02484:Pus7l	APN	15	94529488	missense	possibly damaging	0.70
IGL02731:Pus7l	APN	15	94523464	missense	probably benign	0.03
IGL03252:Pus7l	APN	15	94525810	missense	probably benign	0.00
IGL03392:Pus7l	APN	15	94536568	missense	probably damaging	1.00
R0848:Pus7l	UTSW	15	94540512	missense	probably benign	0.16
R1646:Pus7l	UTSW	15	94533636	missense	probably benign	0.33
R1785:Pus7l	UTSW	15	94540637	missense	probably benign	0.04
R2046:Pus7l	UTSW	15	94540785	missense	probably benign	0.01
R2206:Pus7l	UTSW	15	94523590	missense	probably damaging	1.00
R2210:Pus7l	UTSW	15	94540292	missense	possibly damaging	0.95
R3618:Pus7l	UTSW	15	94527907	missense	probably damaging	0.97
R4485:Pus7l	UTSW	15	94523490	missense	probably benign	0.00
R4487:Pus7l	UTSW	15	94531617	missense	possibly damaging	0.46
R4686:Pus7l	UTSW	15	94540211	missense	probably damaging	1.00
R4739:Pus7l	UTSW	15	94540710	missense	probably benign	0.02
R4975:Pus7l	UTSW	15	94529488	missense	possibly damaging	0.70
R5431:Pus7l	UTSW	15	94529486	missense	probably damaging	1.00
R5567:Pus7l	UTSW	15	94527865	missense	probably benign	0.00
R5570:Pus7l	UTSW	15	94527865	missense	probably benign	0.00
R5896:Pus7l	UTSW	15	94529451	splice site	probably null
R6408:Pus7l	UTSW	15	94531575	missense	probably benign	0.06
R6681:Pus7l	UTSW	15	94527865	missense	probably benign	0.00
R7344:Pus7l	UTSW	15	94540617	missense	probably benign	0.01
R7811:Pus7l	UTSW	15	94540826	missense	probably damaging	1.00
R8412:Pus7l	UTSW	15	94527975	missense	probably benign	0.44
R8833:Pus7l	UTSW	15	94540262	missense	probably damaging	0.98
R9177:Pus7l	UTSW	15	94533564	missense	probably benign	0.00
R9268:Pus7l	UTSW	15	94533564	missense	probably benign	0.00
R9503:Pus7l	UTSW	15	94540785	missense	probably benign	0.01
R9525:Pus7l	UTSW	15	94540883	missense	probably damaging	1.00
R9526:Pus7l	UTSW	15	94527900	missense	probably damaging	1.00
X0065:Pus7l	UTSW	15	94540773	missense	possibly damaging	0.87
X0066:Pus7l	UTSW	15	94529493	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CGACCTCTCAGGACACTGTGAAAAG -3'
(R):5'- ACGTTCAGTACCCGGAGAACCAAG -3'

Sequencing Primer
(F):5'- CGCGAAGCTCAAGGCAG -3'
(R):5'- CCGGAGAACCAAGTAGGGC -3'

Posted On

2013-07-11