Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4280001:Eri3'

554402

Institutional Source

Beutler Lab

Gene Symbol

Eri3

Ensembl Gene

ENSMUSG00000033423

Gene Name

exoribonuclease 3

Synonyms

PINT1, Prnpip1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4280001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

117407562-117531494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117439831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 175 (G175D)

Ref Sequence

ENSEMBL: ENSMUSP00000042796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037127] [ENSMUST00000125312] [ENSMUST00000144373]

AlphaFold

Q8C460

Predicted Effect

probably damaging
Transcript: ENSMUST00000037127
AA Change: G175D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000042796
Gene: ENSMUSG00000033423
AA Change: G175D

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	124	135	N/A	INTRINSIC
EXOIII	145	329	1.17e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125312

SMART Domains

Protein: ENSMUSP00000115520
Gene: ENSMUSG00000033423

Domain	Start	End	E-Value	Type
Pfam:RNase_T	1	100	3.5e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000144373
AA Change: G136D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117034
Gene: ENSMUSG00000033423
AA Change: G136D

Domain	Start	End	E-Value	Type
low complexity region	85	96	N/A	INTRINSIC
Pfam:RNase_T	108	163	3.7e-14	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.9%
10x: 85.5%
20x: 73.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L24Rik	A	G	11: 83,331,660 (GRCm39)	D161G	probably damaging	Het
Acer2	C	T	4: 86,805,320 (GRCm39)	L95F	probably damaging	Het
Adam15	C	T	3: 89,251,285 (GRCm39)		probably null	Het
Aoc1l3	A	T	6: 48,964,054 (GRCm39)	M21L	probably benign	Het
Bmi1	T	A	2: 18,687,820 (GRCm39)	Y98*	probably null	Het
Cdon	T	C	9: 35,398,231 (GRCm39)	C983R	probably damaging	Het
Cfap91	C	T	16: 38,153,135 (GRCm39)	V160I	probably benign	Het
Col12a1	T	C	9: 79,585,387 (GRCm39)	R1297G	probably damaging	Het
Cpd	A	T	11: 76,681,850 (GRCm39)	M1132K	probably benign	Het
Dnah17	T	A	11: 117,989,408 (GRCm39)	R1267W	possibly damaging	Het
Dnah9	G	A	11: 65,895,839 (GRCm39)	A2512V	probably benign	Het
Fbxo9	C	A	9: 77,994,793 (GRCm39)	W244L	probably damaging	Het
Fgfr3	A	T	5: 33,889,576 (GRCm39)	H343L	probably benign	Het
Fmnl2	G	A	2: 53,008,208 (GRCm39)	A803T	unknown	Het
Fmnl3	A	G	15: 99,219,134 (GRCm39)		probably null	Het
Fth1	C	A	19: 9,961,973 (GRCm39)	A104E	probably damaging	Het
Gcm1	T	C	9: 77,966,915 (GRCm39)	Y45H	probably damaging	Het
Gm5157	C	G	7: 20,919,007 (GRCm39)	G179R	probably damaging	Het
Gpr179	A	G	11: 97,234,941 (GRCm39)	I463T	probably damaging	Het
Gpr35	T	C	1: 92,910,356 (GRCm39)	Y23H	probably damaging	Het
Inpp4b	C	T	8: 82,761,046 (GRCm39)	H647Y	probably benign	Het
Kif6	A	T	17: 50,062,148 (GRCm39)	K436M	probably benign	Het
Lacc1	T	A	14: 77,272,517 (GRCm39)	Q93L	probably damaging	Het
Lamc1	T	C	1: 153,119,217 (GRCm39)	R801G	probably damaging	Het
Lrp2bp	T	G	8: 46,476,048 (GRCm39)	V263G	probably damaging	Het
Magi3	T	A	3: 103,961,668 (GRCm39)	K453N	probably damaging	Het
Mfsd6	T	A	1: 52,700,039 (GRCm39)	Y703F	probably benign	Het
Mms22l	A	G	4: 24,581,149 (GRCm39)	T820A	probably benign	Het
Ndufa12	T	C	10: 94,034,994 (GRCm39)		probably null	Het
Nlrp12	A	T	7: 3,290,063 (GRCm39)	C150S	possibly damaging	Het
Noc4l	G	A	5: 110,799,305 (GRCm39)	T159I	probably benign	Het
Olfml2b	T	A	1: 170,475,305 (GRCm39)	C77S	probably damaging	Het
Or4c12	A	T	2: 89,774,087 (GRCm39)	I124N	probably damaging	Het
Or9a4	C	A	6: 40,548,650 (GRCm39)	T110K	probably damaging	Het
Pdzd2	A	G	15: 12,399,374 (GRCm39)	V784A	probably damaging	Het
Pip5kl1	A	T	2: 32,473,470 (GRCm39)	Y369F	probably benign	Het
Pkdrej	A	T	15: 85,704,136 (GRCm39)	I600N	probably benign	Het
Psg19	T	C	7: 18,530,831 (GRCm39)	I108V	probably damaging	Het
Pxdn	G	A	12: 30,045,327 (GRCm39)	V539M	probably damaging	Het
Resf1	T	G	6: 149,227,023 (GRCm39)	I23S	probably benign	Het
Rsbn1l	T	A	5: 21,124,653 (GRCm39)	H383L	probably damaging	Het
Scamp2	A	T	9: 57,488,076 (GRCm39)	N118I	probably damaging	Het
Scn2a	T	C	2: 65,546,074 (GRCm39)	V879A	probably damaging	Het
Scn8a	G	A	15: 100,855,370 (GRCm39)	E172K	probably damaging	Het
Slc16a6	C	T	11: 109,349,419 (GRCm39)	C214Y	possibly damaging	Het
Stag1	A	G	9: 100,824,769 (GRCm39)	T922A	possibly damaging	Het
Tarbp1	T	C	8: 127,157,586 (GRCm39)	H1307R	probably damaging	Het
Tut1	T	G	19: 8,936,626 (GRCm39)	V150G	probably benign	Het
Ubr2	G	A	17: 47,255,789 (GRCm39)	R1371W	probably damaging	Het
Vmn2r124	A	G	17: 18,283,487 (GRCm39)	N394D	probably benign	Het
Vmn2r63	T	C	7: 42,553,409 (GRCm39)	T616A	probably damaging	Het
Zp3	G	A	5: 136,013,318 (GRCm39)	V217M	possibly damaging	Het

Other mutations in Eri3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Eri3	APN	4	117,422,088 (GRCm39)	missense	probably benign	0.00
IGL01392:Eri3	APN	4	117,446,356 (GRCm39)	critical splice donor site	probably null
IGL01781:Eri3	APN	4	117,421,874 (GRCm39)	missense	probably benign	0.00
IGL02737:Eri3	APN	4	117,422,057 (GRCm39)	missense	probably damaging	1.00
IGL02969:Eri3	APN	4	117,506,508 (GRCm39)	missense	probably damaging	1.00
chewed_out	UTSW	4	117,506,604 (GRCm39)	critical splice donor site	probably null
R0720:Eri3	UTSW	4	117,410,242 (GRCm39)	critical splice donor site	probably null
R0993:Eri3	UTSW	4	117,421,860 (GRCm39)	missense	possibly damaging	0.85
R1331:Eri3	UTSW	4	117,422,104 (GRCm39)	splice site	probably benign
R1538:Eri3	UTSW	4	117,439,836 (GRCm39)	missense	possibly damaging	0.92
R1854:Eri3	UTSW	4	117,506,562 (GRCm39)	missense	probably benign	0.01
R1971:Eri3	UTSW	4	117,421,964 (GRCm39)	missense	probably benign	0.10
R5340:Eri3	UTSW	4	117,530,991 (GRCm39)	missense	probably damaging	0.99
R5511:Eri3	UTSW	4	117,472,386 (GRCm39)	missense	possibly damaging	0.90
R5569:Eri3	UTSW	4	117,506,553 (GRCm39)	missense	possibly damaging	0.90
R6052:Eri3	UTSW	4	117,421,825 (GRCm39)	missense	probably damaging	0.99
R7140:Eri3	UTSW	4	117,506,604 (GRCm39)	critical splice donor site	probably null
R7187:Eri3	UTSW	4	117,446,343 (GRCm39)	missense	probably benign	0.03
R7268:Eri3	UTSW	4	117,506,580 (GRCm39)	missense	probably benign
R8083:Eri3	UTSW	4	117,450,359 (GRCm39)	missense	probably damaging	1.00
R8557:Eri3	UTSW	4	117,472,520 (GRCm39)	missense	possibly damaging	0.73
R9430:Eri3	UTSW	4	117,439,868 (GRCm39)	nonsense	probably null
R9563:Eri3	UTSW	4	117,422,013 (GRCm39)	missense	probably benign	0.15
R9565:Eri3	UTSW	4	117,422,013 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GAAGGCTTTAGCAGTGTGAGC -3'
(R):5'- AGTCAAGTGAAAAGCCATTGC -3'

Sequencing Primer
(F):5'- AAATGTTGACATCACCTCTTCTAGC -3'
(R):5'- GCCATTGCTGGGCTCTTGC -3'

Posted On

2019-06-07