Mutagenetix > Incidental Mutation

Incidental Mutation 'R8957:Dis3'

682120

Institutional Source

Beutler Lab

Gene Symbol

Dis3

Ensembl Gene

ENSMUSG00000033166

Gene Name

DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease

Synonyms

2810028N01Rik

MMRRC Submission

068793-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8957 (G1)

Quality Score

141.008

Status

Validated

Chromosome

Chromosomal Location

99314070-99337217 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99337027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 28 (D28G)

Ref Sequence

ENSEMBL: ENSMUSP00000154479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022650] [ENSMUST00000042471] [ENSMUST00000227022] [ENSMUST00000228643]

AlphaFold

Q9CSH3

Predicted Effect

probably benign
Transcript: ENSMUST00000022650

SMART Domains

Protein: ENSMUSP00000022650
Gene: ENSMUSG00000022064

Domain	Start	End	E-Value	Type
low complexity region	14	26	N/A	INTRINSIC
coiled coil region	58	165	N/A	INTRINSIC
coiled coil region	200	364	N/A	INTRINSIC
coiled coil region	396	444	N/A	INTRINSIC
coiled coil region	474	553	N/A	INTRINSIC
coiled coil region	586	679	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000042471
AA Change: D28G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041906
Gene: ENSMUSG00000033166
AA Change: D28G

Domain	Start	End	E-Value	Type
low complexity region	30	47	N/A	INTRINSIC
PINc	64	182	2.8e-24	SMART
low complexity region	425	436	N/A	INTRINSIC
RNB	467	797	5.56e-141	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227022
AA Change: D28G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228643
AA Change: D28G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	A	G	5: 114,951,891 (GRCm39)	V28A	probably benign	Het
Abca12	T	A	1: 71,360,784 (GRCm39)	D503V	possibly damaging	Het
Aco2	A	T	15: 81,773,701 (GRCm39)		probably benign	Het
Aff1	A	G	5: 103,981,634 (GRCm39)	Q591R	possibly damaging	Het
Ankle2	G	A	5: 110,379,121 (GRCm39)	A7T	possibly damaging	Het
Ankrd12	T	C	17: 66,291,491 (GRCm39)	N1314S	probably benign	Het
Apeh	A	T	9: 107,969,572 (GRCm39)	M216K	probably benign	Het
Armh1	T	C	4: 117,087,104 (GRCm39)	Y187C	probably damaging	Het
Ascc3	C	A	10: 50,576,208 (GRCm39)	A821E	probably damaging	Het
Atf7ip	A	G	6: 136,543,701 (GRCm39)	D650G	probably null	Het
Cav1	T	A	6: 17,339,235 (GRCm39)	F107I	probably benign	Het
Ccdc146	A	G	5: 21,514,585 (GRCm39)		probably benign	Het
Ccdc57	A	G	11: 120,776,861 (GRCm39)	I513T	probably benign	Het
Ccrl2	T	C	9: 110,884,557 (GRCm39)	R314G	probably benign	Het
Cd1d1	T	C	3: 86,906,140 (GRCm39)	D45G	probably damaging	Het
Cfap74	G	A	4: 155,521,187 (GRCm39)	E620K		Het
Col4a1	T	A	8: 11,295,906 (GRCm39)		probably benign	Het
Cux2	C	T	5: 121,999,011 (GRCm39)	G1310R	probably benign	Het
Cyld	G	T	8: 89,432,410 (GRCm39)	R136L	probably damaging	Het
Cyp4v3	A	T	8: 45,760,018 (GRCm39)	N511K	probably benign	Het
Dchs2	G	A	3: 83,189,573 (GRCm39)	V1646M		Het
Des	A	T	1: 75,340,295 (GRCm39)	I401F	probably damaging	Het
Dnai4	T	C	4: 102,953,950 (GRCm39)	D83G	probably damaging	Het
Ehd1	A	G	19: 6,344,439 (GRCm39)	Y233C	probably damaging	Het
Fcrlb	G	A	1: 170,735,536 (GRCm39)	A246V	probably benign	Het
Firrm	C	T	1: 163,792,335 (GRCm39)	R554H	probably damaging	Het
Fnta	T	C	8: 26,489,541 (GRCm39)	R357G	probably benign	Het
Fpgs	T	C	2: 32,575,354 (GRCm39)	D420G	probably damaging	Het
Hdac4	T	C	1: 91,873,757 (GRCm39)		probably null	Het
Hdhd5	C	T	6: 120,495,404 (GRCm39)		probably null	Het
Iqgap2	G	A	13: 95,772,154 (GRCm39)	R1342C	probably damaging	Het
Isyna1	T	G	8: 71,049,372 (GRCm39)	L428R	probably damaging	Het
Jmjd4	C	T	11: 59,340,884 (GRCm39)		probably benign	Het
Klra1	A	G	6: 130,357,609 (GRCm39)	V6A	possibly damaging	Het
Klrb1b	T	A	6: 128,795,522 (GRCm39)	K124N	probably benign	Het
Krtap19-3	T	C	16: 88,674,833 (GRCm39)		probably benign	Het
Lrrc74b	T	C	16: 17,378,976 (GRCm39)	T34A	probably benign	Het
Map9	A	G	3: 82,278,687 (GRCm39)	Y229C	probably benign	Het
Mmp28	T	C	11: 83,334,636 (GRCm39)	I373V	possibly damaging	Het
Mpdz	A	T	4: 81,251,216 (GRCm39)	Y1086*	probably null	Het
Myct1	C	T	10: 5,554,208 (GRCm39)	T25I	probably damaging	Het
Myh4	A	G	11: 67,141,780 (GRCm39)	K880E	possibly damaging	Het
Nav2	T	G	7: 49,220,964 (GRCm39)	V1656G	probably damaging	Het
Or12d13	A	G	17: 37,647,382 (GRCm39)	V247A	probably damaging	Het
Or1a1	T	A	11: 74,086,772 (GRCm39)	S148T	probably damaging	Het
Or5b101	T	A	19: 13,004,881 (GRCm39)	I271F	probably benign	Het
Pate2	T	C	9: 35,596,911 (GRCm39)	W100R	probably benign	Het
Pcdhb11	A	C	18: 37,554,692 (GRCm39)	K7N	probably benign	Het
Pcdhb11	A	G	18: 37,555,872 (GRCm39)	T401A	probably benign	Het
Pgam1	T	A	19: 41,905,215 (GRCm39)	I183N	possibly damaging	Het
Pou5f1	T	G	17: 35,821,366 (GRCm39)	L326R	possibly damaging	Het
Rbm34	A	C	8: 127,692,208 (GRCm39)	V178G	probably benign	Het
Rc3h2	A	G	2: 37,289,660 (GRCm39)	V384A	possibly damaging	Het
Sec62	T	A	3: 30,864,671 (GRCm39)	F178L	unknown	Het
Slco1a6	T	C	6: 142,091,493 (GRCm39)	N69S	probably damaging	Het
Smok2b	T	A	17: 13,453,873 (GRCm39)	L11Q	probably damaging	Het
Snai2	T	C	16: 14,526,113 (GRCm39)	S255P	probably damaging	Het
Spata31h1	A	G	10: 82,124,908 (GRCm39)	Y2701H	probably benign	Het
Tesk2	T	A	4: 116,659,910 (GRCm39)	F343I	probably benign	Het
Tmem106c	A	T	15: 97,867,481 (GRCm39)	I222F	probably benign	Het
Tmub1	G	T	5: 24,651,775 (GRCm39)	T63K	probably benign	Het
Tnip3	A	G	6: 65,582,843 (GRCm39)	T217A	probably benign	Het
Vmn2r10	T	G	5: 109,149,780 (GRCm39)	K421N	possibly damaging	Het
Zfp975	A	T	7: 42,311,157 (GRCm39)	H485Q	probably damaging	Het

Other mutations in Dis3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Dis3	APN	14	99,320,110 (GRCm39)	missense	probably damaging	1.00
IGL00821:Dis3	APN	14	99,328,922 (GRCm39)	missense	probably benign	0.00
IGL00975:Dis3	APN	14	99,316,670 (GRCm39)	missense	probably damaging	1.00
IGL01536:Dis3	APN	14	99,316,859 (GRCm39)	missense	probably damaging	1.00
IGL01538:Dis3	APN	14	99,335,181 (GRCm39)	missense	probably benign	0.00
IGL02143:Dis3	APN	14	99,328,754 (GRCm39)	splice site	probably benign
IGL02270:Dis3	APN	14	99,315,790 (GRCm39)	missense	probably benign	0.01
IGL02354:Dis3	APN	14	99,317,148 (GRCm39)	nonsense	probably null
IGL02361:Dis3	APN	14	99,317,148 (GRCm39)	nonsense	probably null
IGL02650:Dis3	APN	14	99,336,221 (GRCm39)	missense	probably benign	0.00
IGL03053:Dis3	APN	14	99,336,170 (GRCm39)	missense	probably benign	0.00
IGL03057:Dis3	APN	14	99,327,426 (GRCm39)	missense	possibly damaging	0.95
IGL03389:Dis3	APN	14	99,332,783 (GRCm39)	splice site	probably benign
R0415:Dis3	UTSW	14	99,324,892 (GRCm39)	missense	probably damaging	1.00
R0504:Dis3	UTSW	14	99,318,826 (GRCm39)	splice site	probably benign
R1535:Dis3	UTSW	14	99,316,862 (GRCm39)	missense	probably damaging	1.00
R1756:Dis3	UTSW	14	99,323,539 (GRCm39)	missense	probably damaging	1.00
R1767:Dis3	UTSW	14	99,321,578 (GRCm39)	missense	probably damaging	1.00
R1883:Dis3	UTSW	14	99,328,905 (GRCm39)	missense	probably benign	0.21
R1938:Dis3	UTSW	14	99,335,026 (GRCm39)	missense	probably benign	0.09
R2056:Dis3	UTSW	14	99,336,251 (GRCm39)	missense	possibly damaging	0.90
R2133:Dis3	UTSW	14	99,317,313 (GRCm39)	missense	probably benign	0.18
R2448:Dis3	UTSW	14	99,324,848 (GRCm39)	missense	probably damaging	0.99
R3407:Dis3	UTSW	14	99,336,212 (GRCm39)	missense	probably benign	0.15
R4052:Dis3	UTSW	14	99,332,752 (GRCm39)	missense	probably benign	0.00
R4207:Dis3	UTSW	14	99,332,752 (GRCm39)	missense	probably benign	0.00
R4208:Dis3	UTSW	14	99,332,752 (GRCm39)	missense	probably benign	0.00
R4465:Dis3	UTSW	14	99,321,550 (GRCm39)	missense	possibly damaging	0.88
R4612:Dis3	UTSW	14	99,328,871 (GRCm39)	missense	probably benign	0.07
R4859:Dis3	UTSW	14	99,325,226 (GRCm39)	missense	probably damaging	1.00
R4932:Dis3	UTSW	14	99,326,340 (GRCm39)	missense	probably damaging	1.00
R5273:Dis3	UTSW	14	99,336,242 (GRCm39)	missense	probably benign	0.32
R5335:Dis3	UTSW	14	99,335,089 (GRCm39)	missense	possibly damaging	0.72
R5409:Dis3	UTSW	14	99,323,368 (GRCm39)	missense	possibly damaging	0.95
R5802:Dis3	UTSW	14	99,337,100 (GRCm39)	missense	probably damaging	1.00
R6156:Dis3	UTSW	14	99,336,215 (GRCm39)	missense	probably benign	0.10
R6309:Dis3	UTSW	14	99,323,358 (GRCm39)	missense	probably benign	0.00
R7275:Dis3	UTSW	14	99,324,925 (GRCm39)	missense	probably damaging	1.00
R7511:Dis3	UTSW	14	99,337,042 (GRCm39)	missense	possibly damaging	0.94
R7535:Dis3	UTSW	14	99,327,415 (GRCm39)	missense	probably benign	0.15
R7794:Dis3	UTSW	14	99,336,233 (GRCm39)	missense	probably benign	0.04
R8013:Dis3	UTSW	14	99,314,835 (GRCm39)	missense	possibly damaging	0.50
R8014:Dis3	UTSW	14	99,314,835 (GRCm39)	missense	possibly damaging	0.50
R8077:Dis3	UTSW	14	99,327,471 (GRCm39)	missense	probably benign	0.03
R9072:Dis3	UTSW	14	99,332,647 (GRCm39)	missense	probably benign	0.44
R9073:Dis3	UTSW	14	99,332,647 (GRCm39)	missense	probably benign	0.44
R9345:Dis3	UTSW	14	99,318,814 (GRCm39)	missense	probably damaging	1.00
R9542:Dis3	UTSW	14	99,316,975 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAGGGAACGGTACCTCAG -3'
(R):5'- CTGTAGTCCAGAGGAAAGCC -3'

Sequencing Primer
(F):5'- AACGGTACCTCAGCCTGGATG -3'
(R):5'- AATCACCGCGACCGTCG -3'

Posted On

2021-08-31