Mutagenetix > Incidental Mutation

Incidental Mutation 'R4471:Rexo1'

329444

Institutional Source

Beutler Lab

Gene Symbol

Rexo1

Ensembl Gene

ENSMUSG00000047417

Gene Name

REX1, RNA exonuclease 1

Synonyms

2610511M11Rik, Tceb3bp1, 1700021P10Rik

MMRRC Submission

041728-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.547) question?

Stock #

R4471 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80540922-80561560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80542658 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 476 (S476T)

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

probably benign
Transcript: ENSMUST00000057910
AA Change: S1154T

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000049705
Gene: ENSMUSG00000047417
AA Change: S1154T

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

probably damaging
Transcript: ENSMUST00000182260
AA Change: S476T

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

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

Meta Mutation Damage Score

0.3025

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930452B06Rik	A	G	14: 8,536,571	L212P	probably damaging	Het
AF067061	G	T	13: 120,264,043	R81L	probably benign	Het
Alpk1	A	G	3: 127,679,526	S943P	probably damaging	Het
Ankdd1a	T	C	9: 65,503,509	D398G	probably damaging	Het
Ankrd13b	T	A	11: 77,476,214	K49M	probably damaging	Het
Asah1	A	G	8: 41,343,724		probably null	Het
Cdc34b	A	G	11: 94,742,238	E88G	probably benign	Het
Cdh2	T	C	18: 16,774,476		probably null	Het
Ceacam1	T	A	7: 25,474,600	N210I	possibly damaging	Het
Celf3	A	G	3: 94,488,278		probably null	Het
Cmya5	A	T	13: 93,092,325	M2085K	probably benign	Het
Cpne6	G	A	14: 55,516,632	V469M	probably damaging	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Diexf	C	T	1: 193,130,137	R5Q	possibly damaging	Het
Dnajb4	A	T	3: 152,185,162	H333Q	probably benign	Het
Eif3f	T	C	7: 108,940,946	V316A	possibly damaging	Het
Eml1	T	C	12: 108,506,635		probably benign	Het
Ern1	C	A	11: 106,420,042	V302L	possibly damaging	Het
Fam110b	A	T	4: 5,799,092	H170L	probably benign	Het
Fn3krp	T	G	11: 121,426,673	D146E	probably benign	Het
Git1	A	G	11: 77,499,824	T129A	probably benign	Het
Glrp1	T	A	1: 88,503,474	Q58L	unknown	Het
Gpatch2	A	G	1: 187,233,140	E281G	probably damaging	Het
Hipk2	T	A	6: 38,736,922		probably benign	Het
Hydin	A	G	8: 110,587,132	N4214S	probably damaging	Het
Icam5	T	A	9: 21,035,506	C443*	probably null	Het
Impdh1	G	A	6: 29,204,632	Q307*	probably null	Het
Ivns1abp	C	T	1: 151,361,239	T447M	probably benign	Het
Lman1	A	T	18: 65,991,726		probably benign	Het
Mdn1	A	G	4: 32,668,860	E306G	probably benign	Het
Msc	G	C	1: 14,755,678	P24R	probably damaging	Het
Mtif2	T	C	11: 29,540,053		probably benign	Het
Mvp	C	T	7: 127,001,958	M1I	probably null	Het
Myh7	A	T	14: 54,991,854	Y162*	probably null	Het
Nemf	G	A	12: 69,314,442	H956Y	probably benign	Het
Nktr	T	C	9: 121,748,896		probably benign	Het
Nrxn3	T	C	12: 90,204,741	S276P	probably damaging	Het
Olfr26	T	C	9: 38,855,631	S190P	probably damaging	Het
Patj	A	G	4: 98,535,579	K621E	probably damaging	Het
Prss2	A	G	6: 41,522,846	I24V	probably damaging	Het
R3hcc1l	T	C	19: 42,582,820		probably benign	Het
Rest	T	C	5: 77,281,180	V482A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Slc16a3	T	C	11: 120,955,948		probably benign	Het
Slc5a4b	G	A	10: 76,058,891	Q594*	probably null	Het
Slk	T	G	19: 47,615,423	V202G	probably damaging	Het
Smarca2	T	A	19: 26,619,877	V53D	possibly damaging	Het
Snrnp200	T	A	2: 127,238,753	V2036E	probably benign	Het
Sox5	A	G	6: 143,844,765	M523T	possibly damaging	Het
Syt17	A	G	7: 118,436,817		probably null	Het
Taf2	T	C	15: 55,058,880	D337G	possibly damaging	Het
Tecrl	A	G	5: 83,313,287	Y108H	probably benign	Het
Tln1	A	T	4: 43,551,018	F409L	probably benign	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Ttc23	G	A	7: 67,670,156	R187Q	probably benign	Het
Ttl	T	C	2: 129,082,057	V230A	probably benign	Het
Ube2u	G	A	4: 100,481,646	W36*	probably null	Het
Ube4a	A	T	9: 44,946,532		probably benign	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Unc45a	A	G	7: 80,332,980	I399T	possibly damaging	Het
Wdr59	A	C	8: 111,466,787		probably null	Het
Zfp24	A	G	18: 24,018,115		probably benign	Het
Zfp777	A	T	6: 48,042,107	W342R	probably damaging	Het
Zfp979	A	T	4: 147,613,456	C265*	probably null	Het
Zzef1	T	A	11: 72,913,331	L2633Q	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- AGACATGCTCAGCACAGTC -3'
(R):5'- TGACTACAACACCAGGTGTG -3'

Sequencing Primer
(F):5'- ATGCTCAGCACAGTCCTTAC -3'
(R):5'- AGGTGTGTCCCGGCCTAC -3'

Posted On

2015-07-21