Mutagenetix > Incidental Mutation

Incidental Mutation 'R4893:Pusl1'

377391

Institutional Source

Beutler Lab

Gene Symbol

Pusl1

Ensembl Gene

ENSMUSG00000051557

Gene Name

pseudouridylate synthase-like 1

Synonyms

2810021I11Rik

MMRRC Submission

042498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R4893 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155973314-155976231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155973998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 252 (T252I)

Ref Sequence

ENSEMBL: ENSMUSP00000095344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030901] [ENSMUST00000079031] [ENSMUST00000097737] [ENSMUST00000105584] [ENSMUST00000120794] [ENSMUST00000156460]

AlphaFold

A2ADA5

Predicted Effect

probably benign
Transcript: ENSMUST00000030901

SMART Domains

Protein: ENSMUSP00000030901
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	233	3.38e-17	SMART
Beta-Casp	245	363	6.94e-37	SMART
Pfam:RMMBL	376	418	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079031

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
PH	265	361	6.35e-16	SMART
low complexity region	377	391	N/A	INTRINSIC
ArfGap	399	521	4.62e-56	SMART
low complexity region	554	566	N/A	INTRINSIC
low complexity region	601	617	N/A	INTRINSIC
low complexity region	628	650	N/A	INTRINSIC
low complexity region	669	686	N/A	INTRINSIC
ANK	696	725	3.91e-3	SMART
ANK	729	758	2.43e1	SMART
low complexity region	781	796	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097737
AA Change: T252I

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000095344
Gene: ENSMUSG00000051557
AA Change: T252I

Domain	Start	End	E-Value	Type
Pfam:PseudoU_synth_1	16	124	2.5e-12	PFAM
Pfam:PseudoU_synth_1	168	285	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105584

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

Domain	Start	End	E-Value	Type
Pfam:BAR_3	3	236	4.1e-95	PFAM
PH	269	365	6.35e-16	SMART
low complexity region	381	395	N/A	INTRINSIC
ArfGap	403	525	4.62e-56	SMART
low complexity region	558	570	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	632	654	N/A	INTRINSIC
low complexity region	673	690	N/A	INTRINSIC
ANK	700	729	3.91e-3	SMART
ANK	733	762	2.43e1	SMART
low complexity region	785	800	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120794

SMART Domains

Protein: ENSMUSP00000112656
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
Lactamase_B	16	211	6.42e-9	SMART
Beta-Casp	223	341	6.94e-37	SMART
Pfam:RMMBL	354	396	3.6e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134678

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142724

Predicted Effect

probably benign
Transcript: ENSMUST00000156460

SMART Domains

Protein: ENSMUSP00000118803
Gene: ENSMUSG00000029034

Domain	Start	End	E-Value	Type
SCOP:d1smla_	1	66	7e-7	SMART
PDB:2I7V\|A	3	38	1e-9	PDB
Blast:Lactamase_B	16	66	4e-30	BLAST

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,904 (GRCm39)	I401T	probably damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Acss1	C	A	2: 150,471,786 (GRCm39)	V323F	probably damaging	Het
Adgrf3	T	G	5: 30,405,476 (GRCm39)	D286A	probably benign	Het
Akap5	T	C	12: 76,376,743 (GRCm39)	V718A	probably damaging	Het
Ankk1	A	G	9: 49,326,983 (GRCm39)	V732A	probably benign	Het
Antxr2	T	A	5: 98,151,931 (GRCm39)	D180V	probably damaging	Het
Arfgef2	T	G	2: 166,708,876 (GRCm39)	F1063V	probably benign	Het
Ascl5	A	T	1: 135,978,917 (GRCm39)	I126F	probably damaging	Het
Aspm	T	A	1: 139,417,577 (GRCm39)		probably null	Het
Atf6b	T	C	17: 34,867,586 (GRCm39)	S100P	probably damaging	Het
Baz2a	C	A	10: 127,959,284 (GRCm39)	H1266Q	possibly damaging	Het
Cdh4	A	T	2: 179,489,212 (GRCm39)		probably benign	Het
Celsr3	C	G	9: 108,726,620 (GRCm39)	S3283C	probably damaging	Het
Clca4b	C	T	3: 144,630,934 (GRCm39)	V309M	possibly damaging	Het
Cnbd2	T	C	2: 156,207,104 (GRCm39)	Y436H	probably damaging	Het
Csnk1a1	T	C	18: 61,718,372 (GRCm39)		probably benign	Het
Cstf1	C	T	2: 172,222,444 (GRCm39)	R401C	probably damaging	Het
Cul3	A	G	1: 80,266,567 (GRCm39)	I117T	probably damaging	Het
Dlgap3	A	G	4: 127,088,776 (GRCm39)	D124G	probably damaging	Het
Dnah12	A	G	14: 26,431,325 (GRCm39)	D381G	possibly damaging	Het
Dtna	T	C	18: 23,702,724 (GRCm39)	L85P	probably damaging	Het
Ephb2	A	G	4: 136,387,064 (GRCm39)	I722T	probably damaging	Het
Epn3	A	T	11: 94,382,822 (GRCm39)	F421I	probably damaging	Het
Fam83f	T	A	15: 80,576,156 (GRCm39)	L269H	probably damaging	Het
Fhip2a	T	A	19: 57,370,188 (GRCm39)	H477Q	probably benign	Het
Gata4	G	A	14: 63,439,045 (GRCm39)	A139V	probably benign	Het
Glce	T	C	9: 61,975,777 (GRCm39)	D241G	probably benign	Het
Gm17728	A	T	17: 9,641,063 (GRCm39)	I58F	probably benign	Het
Inhba	A	T	13: 16,201,134 (GRCm39)	D232V	possibly damaging	Het
Itgb2l	C	A	16: 96,229,021 (GRCm39)	R394L	probably benign	Het
Klhl14	T	C	18: 21,690,992 (GRCm39)	Y486C	probably damaging	Het
Krt1	A	G	15: 101,758,555 (GRCm39)	I203T	probably damaging	Het
Lims2	T	C	18: 32,074,864 (GRCm39)		probably null	Het
Lrrc31	T	G	3: 30,733,446 (GRCm39)	I423L	probably benign	Het
Map7d1	C	T	4: 126,127,015 (GRCm39)	D732N	unknown	Het
Mau2	A	T	8: 70,483,290 (GRCm39)		probably null	Het
Mbtps1	G	A	8: 120,244,932 (GRCm39)	R840W	probably damaging	Het
Morn3	T	C	5: 123,175,745 (GRCm39)	I214M	probably damaging	Het
Mrpl44	A	G	1: 79,755,582 (GRCm39)	K63E	probably damaging	Het
Muc20	T	C	16: 32,615,042 (GRCm39)	T112A	possibly damaging	Het
Myo6	T	A	9: 80,136,159 (GRCm39)	L94Q	probably damaging	Het
Nos1	C	A	5: 118,090,942 (GRCm39)	T1423K	possibly damaging	Het
Or2l13	A	G	16: 19,305,653 (GRCm39)	T22A	probably benign	Het
Or2t1	T	C	14: 14,328,852 (GRCm38)	V247A	probably damaging	Het
Pdzd2	T	C	15: 12,385,429 (GRCm39)	T1114A	probably benign	Het
Pgm2	T	C	5: 64,263,283 (GRCm39)	V310A	probably benign	Het
Pi4ka	T	C	16: 17,194,900 (GRCm39)	E166G	probably benign	Het
Pign	A	T	1: 105,574,436 (GRCm39)	D303E	probably damaging	Het
Pik3c3	G	T	18: 30,415,053 (GRCm39)	V149L	probably benign	Het
Pkd1l3	A	T	8: 110,365,026 (GRCm39)	Y1126F	probably benign	Het
Pkd2l1	T	A	19: 44,142,210 (GRCm39)	Q516L	probably benign	Het
Pnliprp2	C	A	19: 58,759,853 (GRCm39)	Q355K	probably benign	Het
Pnpla7	T	A	2: 24,943,688 (GRCm39)	Y1314*	probably null	Het
Ppp1r1b	A	G	11: 98,246,170 (GRCm39)	T51A	possibly damaging	Het
Prkcd	A	T	14: 30,321,382 (GRCm39)	S544T	probably damaging	Het
Rnf44	A	G	13: 54,829,745 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,145 (GRCm39)	V303E	probably damaging	Het
Slc28a2	T	A	2: 122,285,697 (GRCm39)		probably null	Het
Sox8	T	C	17: 25,787,963 (GRCm39)	D162G	probably damaging	Het
Spag1	T	C	15: 36,197,992 (GRCm39)		probably null	Het
Taar6	T	C	10: 23,861,298 (GRCm39)	I83V	probably benign	Het
Tes	T	A	6: 17,104,595 (GRCm39)	C359S	probably damaging	Het
Vmn2r4	A	T	3: 64,313,676 (GRCm39)	L435H	probably damaging	Het
Zfhx3	G	T	8: 109,683,639 (GRCm39)	D3693Y	unknown	Het
Zfp931	G	A	2: 177,709,996 (GRCm39)	P130L	probably damaging	Het
Zfr	T	G	15: 12,136,628 (GRCm39)	V95G	unknown	Het
Zw10	A	G	9: 48,985,325 (GRCm39)	E587G	possibly damaging	Het

Other mutations in Pusl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Pusl1	APN	4	155,974,170 (GRCm39)	missense	probably damaging	0.96
IGL02056:Pusl1	APN	4	155,975,029 (GRCm39)	missense	probably benign	0.05
R4377:Pusl1	UTSW	4	155,975,037 (GRCm39)	missense	probably benign
R4501:Pusl1	UTSW	4	155,973,999 (GRCm39)	missense	probably benign	0.00
R4911:Pusl1	UTSW	4	155,975,899 (GRCm39)	unclassified	probably benign
R6029:Pusl1	UTSW	4	155,973,920 (GRCm39)	missense	probably damaging	1.00
R6155:Pusl1	UTSW	4	155,975,005 (GRCm39)	missense	probably damaging	0.96
R6732:Pusl1	UTSW	4	155,975,573 (GRCm39)	missense	probably benign
R9259:Pusl1	UTSW	4	155,975,639 (GRCm39)	missense	probably damaging	1.00
R9718:Pusl1	UTSW	4	155,976,094 (GRCm39)	missense	probably benign
Z1177:Pusl1	UTSW	4	155,975,662 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTGACTGCATCCAAAAGTCC -3'
(R):5'- TGGACCTCAAAGCTGTCTGTG -3'

Sequencing Primer
(F):5'- AAAGTCCCCTCCCTGAGCG -3'
(R):5'- TCCTAGGAGGCTGCAGTTC -3'

Posted On

2016-03-17