Mutagenetix > Incidental Mutation

Incidental Mutation 'R6615:Rexo1'

523972

Institutional Source

Beutler Lab

Gene Symbol

Rexo1

Ensembl Gene

ENSMUSG00000047417

Gene Name

REX1, RNA exonuclease 1

Synonyms

2610511M11Rik, Tceb3bp1, 1700021P10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R6615 (G1)

Quality Score

129.008

Status

Validated

Chromosome

Chromosomal Location

80540922-80561560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 80544014 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 994 (R994Q)

Ref Sequence

ENSEMBL: ENSMUSP00000049705 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020383] [ENSMUST00000057910] [ENSMUST00000183160] [ENSMUST00000219648] [ENSMUST00000220326]

AlphaFold

Q7TT28

Predicted Effect

probably benign
Transcript: ENSMUST00000020383

SMART Domains

Protein: ENSMUSP00000020383
Gene: ENSMUSG00000003341

Domain	Start	End	E-Value	Type
Pfam:PhoLip_ATPase_N	20	97	9.3e-29	PFAM
Pfam:E1-E2_ATPase	121	367	2.2e-10	PFAM
Pfam:HAD	404	866	3.7e-17	PFAM
Pfam:Cation_ATPase	481	580	8.3e-12	PFAM
Pfam:PhoLip_ATPase_C	883	1135	4.2e-61	PFAM
low complexity region	1140	1153	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057910
AA Change: R994Q

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417
AA Change: R994Q

Domain	Start	End	E-Value	Type
low complexity region	34	53	N/A	INTRINSIC
coiled coil region	83	113	N/A	INTRINSIC
low complexity region	180	188	N/A	INTRINSIC
low complexity region	365	381	N/A	INTRINSIC
low complexity region	383	396	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	468	479	N/A	INTRINSIC
low complexity region	507	525	N/A	INTRINSIC
low complexity region	533	551	N/A	INTRINSIC
low complexity region	561	583	N/A	INTRINSIC
low complexity region	667	682	N/A	INTRINSIC
Pfam:EloA-BP1	794	954	3.8e-72	PFAM
EXOIII	1051	1210	2.36e-38	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000182260
AA Change: R316Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182682

Predicted Effect

probably benign
Transcript: ENSMUST00000183073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183139

Predicted Effect

probably benign
Transcript: ENSMUST00000183160
AA Change: R45Q

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183233

Predicted Effect

probably benign
Transcript: ENSMUST00000219648

Predicted Effect

probably benign
Transcript: ENSMUST00000220326

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.4%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	T	A	13: 105,112,485	N402K	probably damaging	Het
Avl9	T	C	6: 56,753,885	V598A	probably benign	Het
Bcar3	T	A	3: 122,426,633	S60T	probably benign	Het
Bean1	CT	C	8: 104,182,032		probably null	Homo
Calm3	A	G	7: 16,917,583		probably null	Het
Ccdc113	A	C	8: 95,545,992	E242D	probably benign	Het
Celsr1	C	T	15: 85,902,114		probably null	Het
Clhc1	T	A	11: 29,578,149	M559K	possibly damaging	Het
Dhx36	T	A	3: 62,488,917	I440L	probably benign	Het
Dnah7c	A	T	1: 46,515,439	T445S	probably benign	Het
Dnah7c	C	A	1: 46,649,340	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,649,351	S1894G	probably benign	Het
Dsc2	T	A	18: 20,032,519	H843L	possibly damaging	Het
F11	T	C	8: 45,248,774	Y333C	probably benign	Het
Fbxo41	T	C	6: 85,478,523	T560A	possibly damaging	Het
Fbxo7	A	T	10: 86,044,534	H282L	possibly damaging	Het
Gmnc	T	G	16: 26,960,528	D243A	probably benign	Het
Hdac5	C	A	11: 102,197,056		probably null	Het
Krt87	A	G	15: 101,436,562	V188A	probably benign	Het
Lpxn	G	A	19: 12,824,799	V163M	probably benign	Het
Lrrk1	A	T	7: 66,281,648	L55Q	probably damaging	Het
Ltbp2	C	T	12: 84,813,317	C621Y	probably damaging	Het
March8	A	G	6: 116,405,663	E147G	probably damaging	Het
Muc16	T	G	9: 18,647,188	H2603P	unknown	Het
Nipa1	T	A	7: 55,979,823	N181Y	probably damaging	Het
Olfr1281	A	G	2: 111,329,112	D231G	probably benign	Het
Olfr297	A	G	7: 86,526,912	T52A	probably benign	Het
Olfr562-ps1	T	C	7: 102,781,787	F104L	probably damaging	Het
Olfr855	A	G	9: 19,584,989	I151V	probably benign	Het
Olfr92	G	A	17: 37,111,602	P127S	probably damaging	Het
Pcf11	T	A	7: 92,657,882	Q1026L	probably damaging	Het
Ptch1	T	G	13: 63,539,830	K378T	possibly damaging	Het
Ptprm	C	T	17: 67,353,956		probably null	Het
Pxmp2	C	A	5: 110,277,707	W154L	possibly damaging	Het
Rdh7	T	G	10: 127,884,622	S294R	probably damaging	Het
Sacs	A	G	14: 61,208,934	T2810A	probably benign	Het
Serpina3c	A	T	12: 104,151,721	H119Q	possibly damaging	Het
Slc12a2	T	G	18: 57,898,128	I335R	probably damaging	Het
Slc25a13	C	T	6: 6,073,454	R468Q	probably damaging	Het
Slc5a6	C	T	5: 31,036,830	V628I	probably benign	Het
Srsf2	T	C	11: 116,853,079		probably null	Het
Sugp2	A	G	8: 70,242,770	Q131R	possibly damaging	Het
Syne1	T	C	10: 5,301,340	R2525G	probably damaging	Het
Tarsl2	T	C	7: 65,678,142	F533S	probably damaging	Het
Tmem8b	G	T	4: 43,682,249	G82W	probably damaging	Het
Unc13c	A	G	9: 73,930,608	I987T	possibly damaging	Het
Usp44	T	C	10: 93,846,489	V267A	possibly damaging	Het
Wac	C	A	18: 7,868,884		probably null	Het
Xkr5	T	C	8: 18,933,553	I658V	probably benign	Het
Zbtb38	A	T	9: 96,686,654	Y792*	probably null	Het

Other mutations in Rexo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Rexo1	APN	10	80550964	missense	probably damaging	0.99
IGL01128:Rexo1	APN	10	80549739	missense	probably benign
IGL01890:Rexo1	APN	10	80543011	missense	possibly damaging	0.85
PIT4453001:Rexo1	UTSW	10	80550397	missense	probably damaging	0.97
R0044:Rexo1	UTSW	10	80544378	missense	probably benign	0.16
R0365:Rexo1	UTSW	10	80542576	missense	probably damaging	0.99
R0573:Rexo1	UTSW	10	80544850	missense	probably damaging	1.00
R1146:Rexo1	UTSW	10	80544405	missense	probably benign	0.04
R1146:Rexo1	UTSW	10	80544405	missense	probably benign	0.04
R1511:Rexo1	UTSW	10	80550050	missense	possibly damaging	0.93
R1523:Rexo1	UTSW	10	80542751	missense	probably benign	0.41
R1807:Rexo1	UTSW	10	80542579	missense	possibly damaging	0.95
R1868:Rexo1	UTSW	10	80542920	missense	probably damaging	1.00
R1935:Rexo1	UTSW	10	80550469	missense	probably benign	0.00
R1936:Rexo1	UTSW	10	80550469	missense	probably benign	0.00
R1957:Rexo1	UTSW	10	80543366	missense	probably damaging	0.96
R2084:Rexo1	UTSW	10	80561266	missense	probably benign	0.01
R2153:Rexo1	UTSW	10	80544109	nonsense	probably null
R2262:Rexo1	UTSW	10	80549569	missense	probably benign	0.02
R4471:Rexo1	UTSW	10	80542658	missense	probably damaging	1.00
R4472:Rexo1	UTSW	10	80542658	missense	probably damaging	1.00
R4690:Rexo1	UTSW	10	80546421	missense	probably benign	0.01
R4972:Rexo1	UTSW	10	80549693	missense	probably damaging	0.96
R6335:Rexo1	UTSW	10	80544081	missense	probably damaging	1.00
R6505:Rexo1	UTSW	10	80543011	missense	possibly damaging	0.85
R6949:Rexo1	UTSW	10	80550636	missense	possibly damaging	0.46
R7612:Rexo1	UTSW	10	80549663	missense	probably benign	0.40
R7807:Rexo1	UTSW	10	80550136	missense	probably benign	0.09
R7840:Rexo1	UTSW	10	80550738	missense	probably benign
R8779:Rexo1	UTSW	10	80548458	missense	probably benign	0.26
R8897:Rexo1	UTSW	10	80542603	missense	probably damaging	0.98
R8995:Rexo1	UTSW	10	80550261	missense	probably damaging	0.96
R9094:Rexo1	UTSW	10	80543020	missense	probably damaging	1.00
R9411:Rexo1	UTSW	10	80561414	missense
R9438:Rexo1	UTSW	10	80543014	missense	possibly damaging	0.46
R9524:Rexo1	UTSW	10	80551038	missense	probably damaging	1.00
R9648:Rexo1	UTSW	10	80549706	missense	probably damaging	0.97
Z1177:Rexo1	UTSW	10	80549775	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATAAGCTGATGTAGGCCTGGG -3'
(R):5'- CTGTTAAGGAACACAGCTCAGG -3'

Sequencing Primer
(F):5'- ATGTAGGCCTGGGGACGG -3'
(R):5'- ACTTCATCATGCTCAGGGGGTAC -3'

Posted On

2018-06-22