Mutagenetix > Incidental Mutation

Incidental Mutation 'R9658:Pan3'

735535

Institutional Source

Beutler Lab

Gene Symbol

Pan3

Ensembl Gene

ENSMUSG00000029647

Gene Name

PAN3 poly(A) specific ribonuclease subunit

Synonyms

2700050F09Rik, A430027N15Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9658 (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 C at 147479881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 55 (F55L)

Ref Sequence

ENSEMBL: ENSMUSP00000134911 (fasta)

Gene Model

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

AlphaFold

Q640Q5

Predicted Effect

probably benign
Transcript: ENSMUST00000031651
AA Change: F742L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031651
Gene: ENSMUSG00000029647
AA Change: F742L

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: ENSMUST00000175807
AA Change: F363L

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135729
Gene: ENSMUSG00000029647
AA Change: F363L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176553
AA Change: F55L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000134911
Gene: ENSMUSG00000029647
AA Change: F55L

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 benign
Transcript: ENSMUST00000176600
AA Change: F796L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135367
Gene: ENSMUSG00000029647
AA Change: F796L

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: F596L

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: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

All alleles(15) : Gene trapped(15)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	C	T	18: 70,600,401 (GRCm39)		probably null	Het
Abca12	T	C	1: 71,325,634 (GRCm39)	I1521M	probably damaging	Het
Abcc3	A	G	11: 94,263,703 (GRCm39)	S268P	possibly damaging	Het
Adamts20	G	C	15: 94,249,626 (GRCm39)	P464A	probably damaging	Het
Apoa1	C	A	9: 46,141,280 (GRCm39)	D125E	probably benign	Het
Atp6v0a1	C	A	11: 100,909,414 (GRCm39)	Q48K	probably benign	Het
Bptf	T	C	11: 107,002,170 (GRCm39)	N314S	probably damaging	Het
Cdh20	T	C	1: 109,988,785 (GRCm39)	V229A	probably damaging	Het
Cfap46	G	A	7: 139,246,229 (GRCm39)	T378M		Het
Clca3b	T	A	3: 144,543,575 (GRCm39)	D418V	probably damaging	Het
Dennd4c	T	A	4: 86,754,625 (GRCm39)	L1545*	probably null	Het
Dnajc13	A	G	9: 104,115,728 (GRCm39)	V27A	probably benign	Het
Efcab3	A	G	11: 104,611,120 (GRCm39)	K321E	probably benign	Het
Eif2ak2	A	T	17: 79,183,632 (GRCm39)	D72E	probably benign	Het
Eif2ak4	T	C	2: 118,269,511 (GRCm39)	I862T	probably damaging	Het
Eif4g1	T	C	16: 20,502,863 (GRCm39)	I1022T	probably benign	Het
Enpp3	A	T	10: 24,649,802 (GRCm39)	*875R	probably null	Het
F11	T	C	8: 45,698,671 (GRCm39)	Y491C	probably damaging	Het
Fam98c	A	C	7: 28,852,206 (GRCm39)	W118G	probably damaging	Het
Fbxo43	A	T	15: 36,152,282 (GRCm39)	L509Q	probably damaging	Het
Fbxw5	A	G	2: 25,393,870 (GRCm39)	H366R	probably damaging	Het
Flt1	G	T	5: 147,525,377 (GRCm39)	N920K	probably damaging	Het
Git1	T	A	11: 77,390,581 (GRCm39)	F106I	probably damaging	Het
Glipr1l2	A	G	10: 111,942,868 (GRCm39)	E241G	probably damaging	Het
Gm2381	A	C	7: 42,469,729 (GRCm39)	C132G	probably damaging	Het
Gm49383	A	G	12: 69,239,628 (GRCm39)	I237T		Het
Gm7324	T	A	14: 43,952,282 (GRCm39)	D308E	probably benign	Het
Gpr17	A	G	18: 32,080,421 (GRCm39)	L214P	probably damaging	Het
Gtf3c1	A	T	7: 125,306,734 (GRCm39)	L39Q	probably damaging	Het
H2-Q6	C	T	17: 35,644,185 (GRCm39)	R56C	probably damaging	Het
Hcar2	T	C	5: 124,002,532 (GRCm39)	T324A	possibly damaging	Het
Ksr2	T	C	5: 117,885,425 (GRCm39)	S750P	probably damaging	Het
Lipi	C	A	16: 75,357,689 (GRCm39)	R292L	probably benign	Het
Map4k3	C	A	17: 80,961,306 (GRCm39)	M133I	probably benign	Het
Marf1	A	T	16: 13,958,087 (GRCm39)	L805Q	probably damaging	Het
Mccc2	T	A	13: 100,090,754 (GRCm39)	R460W	probably damaging	Het
Mgam	A	G	6: 40,721,311 (GRCm39)	D312G	possibly damaging	Het
Nadk2	A	T	15: 9,103,449 (GRCm39)	K360*	probably null	Het
Nalf1	T	C	8: 9,820,114 (GRCm39)	D302G	probably benign	Het
Nars2	A	G	7: 96,689,178 (GRCm39)	I367V	probably benign	Het
Nppb	T	C	4: 148,070,951 (GRCm39)	S109P	possibly damaging	Het
Odf2	G	A	2: 29,779,813 (GRCm39)	R15Q	probably benign	Het
Or4f59	C	A	2: 111,872,823 (GRCm39)	A185S	probably damaging	Het
Or51l4	C	T	7: 103,404,028 (GRCm39)	V255M	probably damaging	Het
Or5ac25	A	T	16: 59,182,106 (GRCm39)	H158Q	probably damaging	Het
Osbpl1a	A	T	18: 12,889,269 (GRCm39)	I949N	probably benign	Het
Patj	A	G	4: 98,353,377 (GRCm39)	D640G	probably null	Het
Pdxk	T	C	10: 78,287,403 (GRCm39)	K53E	probably benign	Het
Pja2	A	G	17: 64,599,868 (GRCm39)	S539P	probably damaging	Het
Plscr1	T	A	9: 92,148,535 (GRCm39)	C158*	probably null	Het
Prdm14	T	C	1: 13,189,145 (GRCm39)	T400A	probably benign	Het
Rag1	C	T	2: 101,473,229 (GRCm39)	V638M	possibly damaging	Het
Ros1	A	G	10: 51,967,069 (GRCm39)	S1734P	probably damaging	Het
S100a9	T	C	3: 90,600,081 (GRCm39)	H105R	unknown	Het
Shisa9	A	T	16: 12,062,520 (GRCm39)	Q247L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc27a4	G	A	2: 29,701,301 (GRCm39)	R364Q	probably damaging	Het
Spag17	C	T	3: 99,934,932 (GRCm39)	P713S	possibly damaging	Het
Tbc1d4	T	A	14: 101,845,856 (GRCm39)	H14L	probably damaging	Het
Tmem144	T	A	3: 79,729,991 (GRCm39)	Y253F	probably damaging	Het
Tmem204	C	T	17: 25,299,322 (GRCm39)	G66R	possibly damaging	Het
Tnfrsf1b	A	T	4: 144,942,424 (GRCm39)	V453E	probably damaging	Het
Tns1	G	C	1: 73,981,182 (GRCm39)	Q1061E	probably benign	Het
Tns1	G	T	1: 73,981,183 (GRCm39)	N1060K	probably benign	Het
Trav5-1	A	G	14: 52,860,428 (GRCm39)	K78E	probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Usp17lc	G	A	7: 103,067,389 (GRCm39)	G228D	possibly damaging	Het
Uvssa	T	C	5: 33,568,333 (GRCm39)	C574R	probably damaging	Het
Veph1	G	A	3: 66,171,434 (GRCm39)	Q3*	probably null	Het
Vps13b	T	A	15: 35,623,774 (GRCm39)	D1230E	probably benign	Het
Xkr9	T	A	1: 13,771,318 (GRCm39)	I278N	probably damaging	Het
Zbed4	C	A	15: 88,664,742 (GRCm39)	A270E	probably benign	Het
Zfp366	A	T	13: 99,365,435 (GRCm39)	T199S	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
R7008:Pan3	UTSW	5	147,482,503 (GRCm39)	missense	probably damaging	0.99
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
X0060:Pan3	UTSW	5	147,479,943 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCAACTGTTCCTGTGAAGAG -3'
(R):5'- TTGTATGTGCACACAGGGCAG -3'

Sequencing Primer
(F):5'- GCAACTGTTCCTGTGAAGAGAATATG -3'
(R):5'- CACACAGGGCAGGAGCG -3'

Posted On

2022-11-14