Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Rexo5'

646864

Institutional Source

Beutler Lab

Gene Symbol

Rexo5

Ensembl Gene

ENSMUSG00000030924

Gene Name

RNA exonuclease 5

Synonyms

2610020H08Rik

MMRRC Submission

067810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119393229-119448166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119433508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 422 (M422L)

Ref Sequence

ENSEMBL: ENSMUSP00000033218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033218] [ENSMUST00000084644] [ENSMUST00000106520] [ENSMUST00000133758]

AlphaFold

D3YW29

Predicted Effect

probably benign
Transcript: ENSMUST00000033218
AA Change: M422L

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000033218
Gene: ENSMUSG00000030924
AA Change: M422L

Domain	Start	End	E-Value	Type
low complexity region	105	116	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
Pfam:RNase_T	225	330	1.4e-12	PFAM
Blast:RRM	424	463	5e-17	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000084644
AA Change: M296L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081694
Gene: ENSMUSG00000030924
AA Change: M296L

Domain	Start	End	E-Value	Type
EXOIII	31	189	2.72e-29	SMART
RRM	298	367	3.23e-9	SMART
Blast:RRM	393	437	2e-22	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000106520
AA Change: M489L

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102130
Gene: ENSMUSG00000030924
AA Change: M489L

Domain	Start	End	E-Value	Type
low complexity region	105	116	N/A	INTRINSIC
low complexity region	123	134	N/A	INTRINSIC
EXOIII	223	381	2.72e-29	SMART
RRM	491	560	3.23e-9	SMART
RRM	586	661	3.28e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133758

Predicted Effect

probably benign
Transcript: ENSMUST00000207042

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,920,126 (GRCm39)	D314G	probably benign	Het
Ankrd12	T	G	17: 66,290,939 (GRCm39)	E1498A	probably benign	Het
Appl1	A	T	14: 26,647,372 (GRCm39)		probably null	Het
Auh	A	G	13: 53,063,349 (GRCm39)	*116R	probably null	Het
Ccdc7a	T	A	8: 129,691,417 (GRCm39)	H402L	probably benign	Het
Ccr4	T	C	9: 114,321,235 (GRCm39)	T277A	probably benign	Het
Col18a1	C	T	10: 76,889,072 (GRCm39)	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,688,925 (GRCm39)	I35T	probably benign	Het
Csnk1e	T	C	15: 79,304,882 (GRCm39)	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,437,020 (GRCm39)	R105G	probably benign	Het
Denr	C	A	5: 124,065,124 (GRCm39)	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,359,571 (GRCm39)	Y82*	probably null	Het
Dok3	A	G	13: 55,671,833 (GRCm39)	V246A	probably benign	Het
Endov	A	C	11: 119,382,723 (GRCm39)	K57Q	possibly damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fbln1	G	A	15: 85,116,773 (GRCm39)	C275Y	probably damaging	Het
Fhip1b	T	C	7: 105,034,342 (GRCm39)	N430D	possibly damaging	Het
Foxi1	A	G	11: 34,157,530 (GRCm39)	I165T	possibly damaging	Het
Gm14496	A	T	2: 181,642,275 (GRCm39)	I649F	probably damaging	Het
Grin2b	A	G	6: 135,899,967 (GRCm39)	S305P	probably damaging	Het
Grm1	G	A	10: 10,564,879 (GRCm39)	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,802,298 (GRCm39)		probably null	Het
Klhl32	A	T	4: 24,629,194 (GRCm39)	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Krt13	A	G	11: 100,009,706 (GRCm39)	L358P	probably damaging	Het
Limk2	G	A	11: 3,321,162 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,756,453 (GRCm39)	D4720G	probably null	Het
Mkln1	T	A	6: 31,435,900 (GRCm39)	Y286*	probably null	Het
Muc6	C	A	7: 141,230,579 (GRCm39)	E1143*	probably null	Het
Myh15	A	G	16: 48,901,551 (GRCm39)	I242M	probably benign	Het
Noc4l	T	G	5: 110,798,828 (GRCm39)	K241Q	probably damaging	Het
Nup88	C	A	11: 70,860,607 (GRCm39)	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or51aa2	A	G	7: 103,188,183 (GRCm39)	I86T	possibly damaging	Het
Orm1	A	T	4: 63,264,355 (GRCm39)	D137V	probably damaging	Het
Osbpl2	T	A	2: 179,778,895 (GRCm39)	D9E	probably damaging	Het
P4ha3	G	T	7: 99,942,986 (GRCm39)	D124Y	probably damaging	Het
Poteg	T	C	8: 27,943,354 (GRCm39)	V208A	probably benign	Het
Ppfibp1	A	G	6: 146,931,843 (GRCm39)	D963G	probably damaging	Het
Prdx6	G	T	1: 161,078,660 (GRCm39)	D9E	probably benign	Het
Prrc2b	C	A	2: 32,104,666 (GRCm39)	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,565,598 (GRCm39)	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo2	A	T	16: 73,730,588 (GRCm39)	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,106,755 (GRCm39)	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,225,048 (GRCm39)	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,850,668 (GRCm39)	M487L	probably benign	Het
St6galnac1	C	A	11: 116,666,325 (GRCm39)		probably benign	Het
Tcp11l2	A	G	10: 84,449,469 (GRCm39)	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,223,482 (GRCm39)	C67*	probably null	Het
Tead2	G	A	7: 44,867,505 (GRCm39)	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849 (GRCm39)	N194K	probably damaging	Het
Timd2	A	G	11: 46,568,027 (GRCm39)		probably null	Het
Tmem270	T	C	5: 134,930,557 (GRCm39)	T235A	probably benign	Het
Tnrc18	T	C	5: 142,774,157 (GRCm39)	D224G		Het
Tsga10	G	T	1: 37,840,959 (GRCm39)	Q416K	probably benign	Het
Ulk1	C	A	5: 110,935,531 (GRCm39)	L911F	probably damaging	Het
Usp8	T	C	2: 126,584,491 (GRCm39)	S567P	probably benign	Het
Vmn2r-ps158	C	T	7: 42,697,270 (GRCm39)	P776S	probably damaging	Het
Zdhhc3	A	C	9: 122,918,143 (GRCm39)	C129G	probably damaging	Het

Other mutations in Rexo5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Rexo5	APN	7	119,433,499 (GRCm39)	missense	probably damaging	1.00
R0347:Rexo5	UTSW	7	119,423,119 (GRCm39)	critical splice donor site	probably null
R0442:Rexo5	UTSW	7	119,442,508 (GRCm39)	missense	probably damaging	1.00
R0589:Rexo5	UTSW	7	119,444,606 (GRCm39)	missense	probably benign	0.00
R0980:Rexo5	UTSW	7	119,423,035 (GRCm39)	missense	probably damaging	1.00
R1465:Rexo5	UTSW	7	119,400,581 (GRCm39)	critical splice donor site	probably null
R1465:Rexo5	UTSW	7	119,400,581 (GRCm39)	critical splice donor site	probably null
R1505:Rexo5	UTSW	7	119,398,826 (GRCm39)	nonsense	probably null
R1775:Rexo5	UTSW	7	119,444,634 (GRCm39)	missense	probably benign	0.00
R1911:Rexo5	UTSW	7	119,398,867 (GRCm39)	missense	probably damaging	1.00
R1996:Rexo5	UTSW	7	119,423,080 (GRCm39)	missense	probably damaging	1.00
R4168:Rexo5	UTSW	7	119,426,621 (GRCm39)	intron	probably benign
R4169:Rexo5	UTSW	7	119,426,621 (GRCm39)	intron	probably benign
R4402:Rexo5	UTSW	7	119,433,599 (GRCm39)	missense	possibly damaging	0.82
R4486:Rexo5	UTSW	7	119,424,800 (GRCm39)	missense	probably benign	0.00
R4620:Rexo5	UTSW	7	119,426,526 (GRCm39)	missense	probably benign	0.37
R4621:Rexo5	UTSW	7	119,418,722 (GRCm39)	missense	probably benign	0.19
R4865:Rexo5	UTSW	7	119,400,553 (GRCm39)	nonsense	probably null
R4884:Rexo5	UTSW	7	119,424,774 (GRCm39)	nonsense	probably null
R5171:Rexo5	UTSW	7	119,423,002 (GRCm39)	missense	probably damaging	1.00
R5209:Rexo5	UTSW	7	119,433,522 (GRCm39)	nonsense	probably null
R5266:Rexo5	UTSW	7	119,443,660 (GRCm39)	missense	probably benign	0.00
R5463:Rexo5	UTSW	7	119,433,526 (GRCm39)	missense	probably damaging	1.00
R5579:Rexo5	UTSW	7	119,433,626 (GRCm39)	critical splice donor site	probably null
R6163:Rexo5	UTSW	7	119,404,470 (GRCm39)	missense	probably damaging	1.00
R6305:Rexo5	UTSW	7	119,427,348 (GRCm39)	missense	probably damaging	1.00
R7144:Rexo5	UTSW	7	119,404,414 (GRCm39)	missense	probably damaging	1.00
R7282:Rexo5	UTSW	7	119,417,636 (GRCm39)	missense	probably damaging	0.97
R8143:Rexo5	UTSW	7	119,433,484 (GRCm39)	splice site	probably null
R8550:Rexo5	UTSW	7	119,400,568 (GRCm39)	missense	probably benign	0.01
R8841:Rexo5	UTSW	7	119,448,011 (GRCm39)	missense	probably benign	0.00
R9133:Rexo5	UTSW	7	119,444,667 (GRCm39)	missense	probably damaging	1.00
R9287:Rexo5	UTSW	7	119,402,025 (GRCm39)	missense	probably damaging	1.00
R9404:Rexo5	UTSW	7	119,400,542 (GRCm39)	missense	probably damaging	1.00
R9499:Rexo5	UTSW	7	119,404,480 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTACCAAACCTAGATCTTCTGC -3'
(R):5'- GCACTCTCAAGCTCACTGTACTATTAG -3'

Sequencing Primer
(F):5'- ACCTAGATCTTCTGCAAGAGC -3'
(R):5'- AGCTCACTGTACTATTAGCTGCACAG -3'

Posted On

2020-09-02