Mutagenetix > Incidental Mutations

Incidental Mutation 'R3723:Pan3'

270626

Institutional Source

Beutler Lab

Gene Symbol

Pan3

Ensembl Gene

ENSMUSG00000029647

Gene Name

PAN3 poly(A) specific ribonuclease subunit

Synonyms

2700050F09Rik, A430027N15Rik

MMRRC Submission

040714-MU

Accession Numbers

Genbank: NM_028291.4; Ensembl: ENSMUST00000031651

Is this an essential gene?

Possibly non essential (E-score: 0.451) question?

Stock #

R3723 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

147430161-147548502 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 147503208 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031651] [ENSMUST00000176600]

Predicted Effect

probably benign
Transcript: ENSMUST00000031651

SMART Domains

Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647

Domain	Start	End	E-Value	Type
low complexity region	3	50	N/A	INTRINSIC
ZnF_C3H1	51	76	2.24e-3	SMART
low complexity region	77	87	N/A	INTRINSIC
low complexity region	93	120	N/A	INTRINSIC
low complexity region	188	194	N/A	INTRINSIC
low complexity region	318	335	N/A	INTRINSIC
PDB:4BWP\|B	391	829	1e-161	PDB
Blast:S_TKc	439	607	2e-8	BLAST
SCOP:d1pme__	453	602	4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176466

Predicted Effect

probably benign
Transcript: ENSMUST00000176596

Predicted Effect

probably benign
Transcript: ENSMUST00000176600

SMART Domains

Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647

Domain	Start	End	E-Value	Type
low complexity region	3	50	N/A	INTRINSIC
ZnF_C3H1	51	76	2.24e-3	SMART
low complexity region	77	87	N/A	INTRINSIC
low complexity region	93	120	N/A	INTRINSIC
low complexity region	188	194	N/A	INTRINSIC
low complexity region	372	389	N/A	INTRINSIC
PDB:4BWP\|B	445	883	1e-161	PDB
Blast:S_TKc	493	661	2e-8	BLAST
SCOP:d1pme__	507	656	4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176753

SMART Domains

Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647

Domain	Start	End	E-Value	Type
low complexity region	43	49	N/A	INTRINSIC
low complexity region	173	190	N/A	INTRINSIC
PDB:4BWP\|B	246	684	1e-164	PDB
Blast:S_TKc	294	462	1e-8	BLAST
SCOP:d1pme__	308	457	8e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177465

SMART Domains

Protein: ENSMUSP00000134810
Gene: ENSMUSG00000029647

Domain	Start	End	E-Value	Type
low complexity region	43	49	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200885

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

95% (38/40)

Allele List at MGI

All alleles(15) : Gene trapped(15)

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 9,016,853	V5167A	possibly damaging	Het
Ano5	A	G	7: 51,576,528	Y510C	probably damaging	Het
Api5	C	T	2: 94,425,613	R243Q	possibly damaging	Het
Apob	A	T	12: 8,006,327	Q1570L	probably damaging	Het
Apob	A	G	12: 8,011,763	N3415S	possibly damaging	Het
Arsk	T	A	13: 76,066,653	I361F	probably damaging	Het
C9	G	A	15: 6,483,080	E228K	possibly damaging	Het
Celsr2	A	G	3: 108,397,415		probably benign	Het
Cfap53	A	G	18: 74,359,569	I455V	probably benign	Het
Ckap4	A	G	10: 84,528,392	L269P	probably damaging	Het
Dnah7a	T	A	1: 53,447,346	D3352V	probably benign	Het
Dync2h1	A	T	9: 7,041,658	M3335K	probably benign	Het
Fam171a1	A	G	2: 3,220,375		probably benign	Het
Glis3	A	T	19: 28,262,591	C97*	probably null	Het
Gm13101	T	C	4: 143,966,681	T76A	probably benign	Het
Gm14221	C	G	2: 160,568,427		noncoding transcript	Het
Gm8603	A	C	17: 13,516,813		probably null	Het
Gm9767	G	T	10: 26,078,571		probably benign	Het
Kctd16	A	G	18: 40,258,859	T167A	possibly damaging	Het
Kif18b	A	G	11: 102,916,276	F78L	probably damaging	Het
Mefv	A	G	16: 3,708,194		probably null	Het
Mipol1	C	A	12: 57,457,092	L349I	probably damaging	Het
Myo10	T	C	15: 25,803,288	V1527A	probably damaging	Het
Naip5	G	T	13: 100,223,014	Y571*	probably null	Het
Npl	A	G	1: 153,515,464	F182L	probably benign	Het
Pcdh15	A	T	10: 74,645,848	T342S	probably benign	Het
Pcdhga1	A	G	18: 37,662,992	T350A	possibly damaging	Het
Prdm4	A	G	10: 85,899,281	S666P	probably damaging	Het
Rere	A	G	4: 150,468,795	E148G	probably damaging	Het
Scube2	T	C	7: 109,808,406		probably benign	Het
Sptbn1	A	G	11: 30,137,335	S1035P	possibly damaging	Het
Srsf4	C	T	4: 131,900,102		probably benign	Het
Supt3	A	G	17: 44,994,387	D108G	probably damaging	Het
Tnfsf13b	A	G	8: 10,031,545	I236V	possibly damaging	Het
Tns1	T	C	1: 73,924,940	S1511G	probably damaging	Het
Tpm1	G	A	9: 67,031,945		probably benign	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Vmn1r117	T	A	7: 20,883,455	I223F	probably damaging	Het
Vmn2r91	G	A	17: 18,085,278		probably null	Het
Zfp30	A	G	7: 29,793,353	E344G	probably damaging	Het

Other mutations in Pan3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Pan3	APN	5	147529973	missense	probably benign	0.05
IGL01612:Pan3	APN	5	147453242	splice site	probably benign
IGL02187:Pan3	APN	5	147526588	missense	probably benign	0.21
IGL02324:Pan3	APN	5	147530123	splice site	probably null
IGL02328:Pan3	APN	5	147530123	splice site	probably null
IGL02507:Pan3	APN	5	147526596	missense	probably damaging	0.98
IGL03144:Pan3	APN	5	147450781	splice site	probably benign
3-1:Pan3	UTSW	5	147526575	missense	probably benign	0.14
R2145:Pan3	UTSW	5	147530098	missense	possibly damaging	0.87
R2174:Pan3	UTSW	5	147450653	missense	possibly damaging	0.63
R2504:Pan3	UTSW	5	147527036	missense	possibly damaging	0.87
R3106:Pan3	UTSW	5	147539379	splice site	probably benign
R3944:Pan3	UTSW	5	147450730	missense	probably damaging	1.00
R4589:Pan3	UTSW	5	147543173	missense	probably damaging	0.98
R4647:Pan3	UTSW	5	147527203	missense	probably damaging	1.00
R4811:Pan3	UTSW	5	147530058	missense	probably damaging	1.00
R5001:Pan3	UTSW	5	147526682	critical splice donor site	probably null
R5126:Pan3	UTSW	5	147527198	missense	probably benign	0.00
R5215:Pan3	UTSW	5	147455105	splice site	probably null
R5317:Pan3	UTSW	5	147543210	critical splice donor site	probably null
R5496:Pan3	UTSW	5	147527128	critical splice acceptor site	probably null
R5687:Pan3	UTSW	5	147455172	missense	probably damaging	1.00
R6147:Pan3	UTSW	5	147548283	unclassified	probably benign
R6539:Pan3	UTSW	5	147450653	missense	possibly damaging	0.63
R7008:Pan3	UTSW	5	147545693	missense	probably damaging	0.99
R7047:Pan3	UTSW	5	147546365	missense	probably damaging	0.97
R7226:Pan3	UTSW	5	147526992	missense	probably damaging	1.00
R7424:Pan3	UTSW	5	147536272	splice site	probably null
R7453:Pan3	UTSW	5	147526681	critical splice donor site	probably null
R8062:Pan3	UTSW	5	147527150	missense	probably benign	0.18
X0060:Pan3	UTSW	5	147543133	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGTTGAAAGAGCCTATGAGC -3'
(R):5'- GCAAATACCCTATGCTGACCG -3'

Sequencing Primer
(F):5'- TTGAAAGAGCCTATGAGCAGTAGC -3'
(R):5'- TATGCTGACCGCTCAGGACATAC -3'

Posted On

2015-03-18