Incidental Mutation 'R7630:Rexo4'
ID 589579
Institutional Source Beutler Lab
Gene Symbol Rexo4
Ensembl Gene ENSMUSG00000052406
Gene Name REX4, 3'-5' exonuclease
Synonyms XPMC2H, Rex4
MMRRC Submission 045691-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7630 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 26843575-26854398 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26850622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 247 (F247I)
Ref Sequence ENSEMBL: ENSMUSP00000109653 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]
AlphaFold Q6PAQ4
Predicted Effect probably damaging
Transcript: ENSMUST00000064244
AA Change: F224I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406
AA Change: F224I

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 390 2.55e-43 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114020
AA Change: F247I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406
AA Change: F247I

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
low complexity region 203 220 N/A INTRINSIC
EXOIII 252 413 2.55e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000136710
AA Change: F224I

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406
AA Change: F224I

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 363 1.57e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 93% (40/43)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik G T 13: 31,742,978 (GRCm39) R92S unknown Het
Agbl1 A T 7: 76,535,904 (GRCm39) I1019F unknown Het
Arhgap15 A G 2: 43,670,648 (GRCm39) T11A probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atg2b T C 12: 105,613,213 (GRCm39) probably null Het
Aup1 C A 6: 83,031,904 (GRCm39) D50E unknown Het
Ccl25 A G 8: 4,403,955 (GRCm39) Y49C probably damaging Het
Cnga3 A G 1: 37,297,127 (GRCm39) D148G probably damaging Het
Cpeb3 A T 19: 37,031,693 (GRCm39) F570I probably damaging Het
Cyp3a16 T A 5: 145,373,120 (GRCm39) probably null Het
Eif2d C T 1: 131,082,103 (GRCm39) T65M probably benign Het
Fryl T C 5: 73,267,588 (GRCm39) I426V possibly damaging Het
Hgf T C 5: 16,803,248 (GRCm39) S387P probably benign Het
Hyal6 T C 6: 24,734,583 (GRCm39) V172A probably damaging Het
Il10ra T C 9: 45,167,369 (GRCm39) D396G probably damaging Het
Kif26a A G 12: 112,142,131 (GRCm39) D795G probably damaging Het
Lrrc8c T A 5: 105,755,568 (GRCm39) S448T probably damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Notch2 A G 3: 98,044,824 (GRCm39) D1582G possibly damaging Het
Or14c42-ps1 T C 7: 86,211,680 (GRCm39) S247P probably damaging Het
Or1l4b A C 2: 37,036,371 (GRCm39) D49A probably damaging Het
Osmr T C 15: 6,846,452 (GRCm39) I741V possibly damaging Het
Plec C T 15: 76,074,816 (GRCm39) probably null Het
Prkag3 A G 1: 74,783,894 (GRCm39) F330L probably damaging Het
Prkn A G 17: 11,456,455 (GRCm39) E93G probably benign Het
Rph3a T C 5: 121,081,113 (GRCm39) D628G probably damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Rxylt1 T C 10: 121,931,865 (GRCm39) I103V possibly damaging Het
Scnn1g T C 7: 121,359,704 (GRCm39) S396P probably damaging Het
Slc1a5 G A 7: 16,529,732 (GRCm39) V384M probably damaging Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Synpo2 A G 3: 122,873,681 (GRCm39) V1154A probably damaging Het
Tanc2 T C 11: 105,667,734 (GRCm39) V105A probably benign Het
Tapbp T C 17: 34,139,318 (GRCm39) S105P probably benign Het
Tmem79 T C 3: 88,240,768 (GRCm39) E60G possibly damaging Het
Txnrd2 A G 16: 18,257,140 (GRCm39) D152G possibly damaging Het
Vcl T A 14: 21,033,470 (GRCm39) L142* probably null Het
Vmn2r58 T C 7: 41,513,611 (GRCm39) Y344C probably damaging Het
Vmn2r-ps117 A G 17: 19,044,909 (GRCm39) D442G probably benign Het
Xpo6 A T 7: 125,739,561 (GRCm39) probably null Het
Other mutations in Rexo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01503:Rexo4 APN 2 26,850,645 (GRCm39) missense probably benign 0.06
IGL02093:Rexo4 APN 2 26,852,530 (GRCm39) missense probably benign 0.01
IGL02223:Rexo4 APN 2 26,845,511 (GRCm39) missense probably damaging 1.00
IGL02823:Rexo4 APN 2 26,852,489 (GRCm39) missense probably benign 0.06
G1citation:Rexo4 UTSW 2 26,850,283 (GRCm39) missense probably damaging 1.00
R0685:Rexo4 UTSW 2 26,848,586 (GRCm39) splice site probably benign
R1792:Rexo4 UTSW 2 26,850,248 (GRCm39) missense probably benign 0.00
R4912:Rexo4 UTSW 2 26,852,404 (GRCm39) missense possibly damaging 0.78
R4934:Rexo4 UTSW 2 26,850,346 (GRCm39) missense probably damaging 0.99
R5808:Rexo4 UTSW 2 26,854,197 (GRCm39) missense probably damaging 0.98
R6822:Rexo4 UTSW 2 26,850,283 (GRCm39) missense probably damaging 1.00
R7673:Rexo4 UTSW 2 26,848,505 (GRCm39) missense probably benign 0.11
R7728:Rexo4 UTSW 2 26,854,242 (GRCm39) missense probably benign 0.08
R8245:Rexo4 UTSW 2 26,850,350 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGCCAAGGCTTTTGTCAAG -3'
(R):5'- AAGCATCCATCTGTGTCCTGG -3'

Sequencing Primer
(F):5'- AAAGGCCCCAGTGTAATAGATATC -3'
(R):5'- GGTCTTTTCACAGCCAGGC -3'
Posted On 2019-10-24