Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01890:Rexo1'

179230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rexo1

Ensembl Gene

ENSMUSG00000047417

Gene Name

REX1, RNA exonuclease 1

Synonyms

2610511M11Rik, Tceb3bp1, 1700021P10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

IGL01890

Quality Score

Status

Chromosome

Chromosomal Location

80540922-80561560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80543011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1064 (Y1064N)

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: Y1064N

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417
AA Change: Y1064N

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: Y386N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183233

Predicted Effect

probably benign
Transcript: ENSMUST00000219648

Predicted Effect

probably benign
Transcript: ENSMUST00000220326

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	T	12: 80,184,868	V265E	probably damaging	Het
Anks1b	A	G	10: 90,644,527	I865V	probably benign	Het
Car5a	G	A	8: 121,923,610	A182V	probably benign	Het
Ccdc47	A	G	11: 106,205,451	V249A	probably damaging	Het
Cyb561d2	A	G	9: 107,541,523	V34A	probably damaging	Het
Dmbt1	A	G	7: 131,074,419		probably benign	Het
Entpd6	G	A	2: 150,770,692	D445N	possibly damaging	Het
Fastkd2	A	G	1: 63,732,161	I225M	probably benign	Het
Flcn	A	G	11: 59,795,170	V424A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gpn3	A	G	5: 122,381,265	M176V	probably benign	Het
Igkv12-38	C	T	6: 69,943,405	C43Y	probably damaging	Het
Oas1h	A	G	5: 120,862,789		probably null	Het
Skint1	G	A	4: 112,010,681	G2R	probably damaging	Het
Slc4a9	G	A	18: 36,529,707	A172T	possibly damaging	Het
Synpo2	A	G	3: 123,112,497	S727P	probably damaging	Het
Tmem131	A	T	1: 36,823,156		probably benign	Het
Trpm3	G	T	19: 22,711,719	R4L	probably damaging	Het
Upf1	A	T	8: 70,334,230	V879E	possibly damaging	Het
Vmn1r194	A	T	13: 22,244,606	Y131F	probably benign	Het
Vmn2r95	T	A	17: 18,451,475	N491K	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	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
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
R6615:Rexo1	UTSW	10	80544014	missense	possibly damaging	0.68
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

Posted On

2014-05-07