Mutagenetix > Incidental Mutation

Incidental Mutation 'R7008:Pan3'

544828

Institutional Source

Beutler Lab

Gene Symbol

Pan3

Ensembl Gene

ENSMUSG00000029647

Gene Name

PAN3 poly(A) specific ribonuclease subunit

Synonyms

2700050F09Rik, A430027N15Rik

MMRRC Submission

045110-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.385) question?

Stock #

R7008 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

147366971-147485312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 147482503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 438 (C438S)

Ref Sequence

ENSEMBL: ENSMUSP00000135729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031651] [ENSMUST00000175807] [ENSMUST00000176553] [ENSMUST00000176600]

AlphaFold

Q640Q5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031651
AA Change: C817S

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: C817S

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 damaging
Transcript: ENSMUST00000175807
AA Change: C438S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: C438S

Domain	Start	End	E-Value	Type
PDB:4BWP\|B	51	450	1e-134	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176553
AA Change: C130S

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134911
Gene: ENSMUSG00000029647
AA Change: C130S

Domain	Start	End	E-Value	Type
PDB:4BWP\|B	1	142	5e-66	PDB
low complexity region	161	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176596

Predicted Effect

probably damaging
Transcript: ENSMUST00000176600
AA Change: C871S

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: C871S

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

SMART Domains

Protein: ENSMUSP00000134989
Gene: ENSMUSG00000029647
AA Change: C671S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(15) : Gene trapped(15)

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	T	A	5: 90,407,955 (GRCm39)	I1421F	possibly damaging	Het
Arhgef11	C	A	3: 87,636,525 (GRCm39)	T992K	possibly damaging	Het
Arid1b	T	C	17: 5,341,254 (GRCm39)	Y853H	probably damaging	Het
Bcl10	G	T	3: 145,639,054 (GRCm39)	R232L	probably benign	Het
Best2	T	A	8: 85,739,840 (GRCm39)	I76F	possibly damaging	Het
Card11	G	C	5: 140,859,148 (GRCm39)	R1133G	probably damaging	Het
Card9	T	C	2: 26,247,811 (GRCm39)	D180G	possibly damaging	Het
Ccdc162	T	A	10: 41,428,411 (GRCm39)	E119V	probably damaging	Het
Ccdc168	T	C	1: 44,098,785 (GRCm39)	D771G	probably benign	Het
Cd2bp2	T	C	7: 126,794,567 (GRCm39)	D15G	possibly damaging	Het
Cdk7	A	C	13: 100,854,129 (GRCm39)	M120R	probably damaging	Het
Cryba4	T	A	5: 112,399,648 (GRCm39)	T2S	probably benign	Het
Cyp19a1	A	T	9: 54,100,609 (GRCm39)	M26K	probably benign	Het
Dgcr2	A	G	16: 17,662,865 (GRCm39)	S157P	probably damaging	Het
Dis3l	A	G	9: 64,217,735 (GRCm39)	F782S	possibly damaging	Het
Ephb4	T	A	5: 137,359,536 (GRCm39)	S369T	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
H1f4	T	C	13: 23,806,192 (GRCm39)	K97E	probably damaging	Het
Igf2bp2	A	T	16: 21,900,582 (GRCm39)	D118E	probably benign	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Klhl5	T	C	5: 65,300,592 (GRCm39)	S52P	probably benign	Het
Lrrc28	A	T	7: 67,245,459 (GRCm39)		probably benign	Het
Map4k4	T	G	1: 40,028,131 (GRCm39)	D317E	probably benign	Het
Maz	A	T	7: 126,623,784 (GRCm39)	C66S	probably damaging	Het
Mbd4	T	C	6: 115,827,685 (GRCm39)	T43A	possibly damaging	Het
Milr1	T	A	11: 106,642,140 (GRCm39)	S11T	probably damaging	Het
Mthfd2l	T	A	5: 91,107,587 (GRCm39)	C150S	probably damaging	Het
Nemf	A	T	12: 69,388,395 (GRCm39)	N325K	possibly damaging	Het
Nemf	C	T	12: 69,400,567 (GRCm39)		probably null	Het
Nod2	T	A	8: 89,390,285 (GRCm39)	C197*	probably null	Het
Odf2l	A	G	3: 144,838,495 (GRCm39)	K241E	probably damaging	Het
Or4z4	G	A	19: 12,076,214 (GRCm39)	T263I	possibly damaging	Het
Or5b124	A	T	19: 13,610,985 (GRCm39)	N170I	probably damaging	Het
Osbpl10	T	G	9: 114,890,916 (GRCm39)	D101E	probably damaging	Het
Osgin1	T	C	8: 120,168,233 (GRCm39)	V20A	possibly damaging	Het
Plaa	A	G	4: 94,457,586 (GRCm39)	*795Q	probably null	Het
Prss35	T	C	9: 86,638,361 (GRCm39)	V377A	probably benign	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasl12	G	A	9: 65,318,151 (GRCm39)	V172M	probably damaging	Het
Rdh16f1	A	G	10: 127,626,775 (GRCm39)	H276R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sez6l	T	C	5: 112,612,561 (GRCm39)	Y460C	probably damaging	Het
Sipa1l1	T	G	12: 82,409,886 (GRCm39)	M600R	probably damaging	Het
Slc11a2	T	C	15: 100,307,205 (GRCm39)	Y92C	probably damaging	Het
Slc4a10	A	G	2: 62,117,266 (GRCm39)	T712A	probably benign	Het
Sntb1	A	T	15: 55,655,468 (GRCm39)	Y249*	probably null	Het
Spatc1	A	G	15: 76,167,923 (GRCm39)	I127M	probably benign	Het
Sting1	C	A	18: 35,868,224 (GRCm39)	R292L	probably damaging	Het
Synj1	A	T	16: 90,790,833 (GRCm39)	N109K	probably damaging	Het
Tdg	T	A	10: 82,484,475 (GRCm39)	M396K	possibly damaging	Het
Tmem252	T	C	19: 24,651,656 (GRCm39)	V75A	probably damaging	Het
Trim40	T	C	17: 37,194,868 (GRCm39)	Q142R	probably damaging	Het
Trip6	T	C	5: 137,311,228 (GRCm39)	T163A	probably damaging	Het
Ttn	T	C	2: 76,724,986 (GRCm39)		probably benign	Het
Wdr95	T	C	5: 149,535,005 (GRCm39)	L721P	probably benign	Het
Zfp385c	A	T	11: 100,521,513 (GRCm39)	D182E	probably damaging	Het
Zfp597	A	G	16: 3,683,631 (GRCm39)	F375S	probably benign	Het
Zfp658	T	G	7: 43,223,336 (GRCm39)	F537C	possibly damaging	Het
Zgrf1	T	C	3: 127,355,421 (GRCm39)	F216L	probably benign	Het

Other mutations in Pan3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01483:Pan3	APN	5	147,466,783 (GRCm39)	missense	probably benign	0.05
IGL01612:Pan3	APN	5	147,390,052 (GRCm39)	splice site	probably benign
IGL02187:Pan3	APN	5	147,463,398 (GRCm39)	missense	probably benign	0.21
IGL02324:Pan3	APN	5	147,466,933 (GRCm39)	splice site	probably null
IGL02328:Pan3	APN	5	147,466,933 (GRCm39)	splice site	probably null
IGL02507:Pan3	APN	5	147,463,406 (GRCm39)	missense	probably damaging	0.98
IGL03144:Pan3	APN	5	147,387,591 (GRCm39)	splice site	probably benign
3-1:Pan3	UTSW	5	147,463,385 (GRCm39)	missense	probably benign	0.14
R2145:Pan3	UTSW	5	147,466,908 (GRCm39)	missense	possibly damaging	0.87
R2174:Pan3	UTSW	5	147,387,463 (GRCm39)	missense	possibly damaging	0.63
R2504:Pan3	UTSW	5	147,463,846 (GRCm39)	missense	possibly damaging	0.87
R3106:Pan3	UTSW	5	147,476,189 (GRCm39)	splice site	probably benign
R3723:Pan3	UTSW	5	147,440,018 (GRCm39)	intron	probably benign
R3944:Pan3	UTSW	5	147,387,540 (GRCm39)	missense	probably damaging	1.00
R4589:Pan3	UTSW	5	147,479,983 (GRCm39)	missense	probably damaging	0.98
R4647:Pan3	UTSW	5	147,464,013 (GRCm39)	missense	probably damaging	1.00
R4811:Pan3	UTSW	5	147,466,868 (GRCm39)	missense	probably damaging	1.00
R5001:Pan3	UTSW	5	147,463,492 (GRCm39)	critical splice donor site	probably null
R5126:Pan3	UTSW	5	147,464,008 (GRCm39)	missense	probably benign	0.00
R5215:Pan3	UTSW	5	147,391,915 (GRCm39)	splice site	probably null
R5317:Pan3	UTSW	5	147,480,020 (GRCm39)	critical splice donor site	probably null
R5496:Pan3	UTSW	5	147,463,938 (GRCm39)	critical splice acceptor site	probably null
R5687:Pan3	UTSW	5	147,391,982 (GRCm39)	missense	probably damaging	1.00
R6147:Pan3	UTSW	5	147,485,093 (GRCm39)	unclassified	probably benign
R6539:Pan3	UTSW	5	147,387,463 (GRCm39)	missense	possibly damaging	0.63
R7047:Pan3	UTSW	5	147,483,175 (GRCm39)	missense	probably damaging	0.97
R7226:Pan3	UTSW	5	147,463,802 (GRCm39)	missense	probably damaging	1.00
R7424:Pan3	UTSW	5	147,473,082 (GRCm39)	splice site	probably null
R7453:Pan3	UTSW	5	147,463,491 (GRCm39)	critical splice donor site	probably null
R8062:Pan3	UTSW	5	147,463,960 (GRCm39)	missense	probably benign	0.18
R8786:Pan3	UTSW	5	147,424,951 (GRCm39)	missense	possibly damaging	0.94
R8897:Pan3	UTSW	5	147,387,472 (GRCm39)	missense	probably benign	0.23
R9658:Pan3	UTSW	5	147,479,881 (GRCm39)	missense	probably benign	0.00
X0060:Pan3	UTSW	5	147,479,943 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTATGGAAATCTGAAAGGGACTGTG -3'
(R):5'- AGAAGCTTCGCTCCTTCCTG -3'

Sequencing Primer
(F):5'- CTGAAAGGGACTGTGATAGAAATAAC -3'
(R):5'- TGCTCCTCCCCCTGGTG -3'

Posted On

2019-05-13