Incidental Mutation 'R9293:Reg4'
ID 704379
Institutional Source Beutler Lab
Gene Symbol Reg4
Ensembl Gene ENSMUSG00000027876
Gene Name regenerating islet-derived family, member 4
Synonyms RELP, 2010002L15Rik
MMRRC Submission 068991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R9293 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 98129472-98144064 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 98143631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 142 (K142Q)
Ref Sequence ENSEMBL: ENSMUSP00000029469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029469]
AlphaFold Q9D8G5
Predicted Effect possibly damaging
Transcript: ENSMUST00000029469
AA Change: K142Q

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029469
Gene: ENSMUSG00000027876
AA Change: K142Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 29 154 5.33e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,771,839 (GRCm39) S343P possibly damaging Het
4930563M21Rik T A 9: 55,916,568 (GRCm39) E36D unknown Het
Abcc8 T G 7: 45,756,092 (GRCm39) K1450T probably benign Het
Aox1 A T 1: 58,361,953 (GRCm39) N720Y possibly damaging Het
BC034090 T C 1: 155,101,518 (GRCm39) T249A probably benign Het
Brf2 A T 8: 27,614,021 (GRCm39) S388R probably damaging Het
Ccdc180 A T 4: 45,944,461 (GRCm39) Q1437L probably damaging Het
Cdc42ep1 A C 15: 78,734,025 (GRCm39) D375A probably benign Het
Cep85l T C 10: 53,174,282 (GRCm39) Y487C probably damaging Het
Cfap299 C T 5: 98,646,162 (GRCm39) A86V probably benign Het
Chd3 C T 11: 69,244,027 (GRCm39) R1346H possibly damaging Het
Cltc T A 11: 86,603,446 (GRCm39) R793S possibly damaging Het
Crat A G 2: 30,298,214 (GRCm39) F162L probably benign Het
Cyp3a44 C A 5: 145,711,187 (GRCm39) V495L probably benign Het
Dchs2 C T 3: 83,189,361 (GRCm39) T1575I possibly damaging Het
Ddx60 A G 8: 62,462,994 (GRCm39) T1292A possibly damaging Het
Dnah12 C T 14: 26,495,016 (GRCm39) A109V probably benign Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fry T C 5: 150,419,297 (GRCm39) S546P Het
Hfe T C 13: 23,890,792 (GRCm39) K204E probably benign Het
Hibch T A 1: 52,952,986 (GRCm39) Y329N probably damaging Het
Irf9 T G 14: 55,846,247 (GRCm39) I426S probably damaging Het
Kif26a C A 12: 112,112,835 (GRCm39) P13T probably damaging Het
Lhx5 A C 5: 120,570,451 (GRCm39) K36Q probably benign Het
Mdn1 T C 4: 32,707,579 (GRCm39) S1623P probably damaging Het
Mre11a T C 9: 14,710,884 (GRCm39) F193L probably damaging Het
Mybl2 G A 2: 162,910,135 (GRCm39) G187E probably damaging Het
Myh1 A T 11: 67,099,929 (GRCm39) Q613L probably benign Het
Myo5a T A 9: 75,087,312 (GRCm39) M1056K probably benign Het
Or1e16 T C 11: 73,285,955 (GRCm39) K298E probably damaging Het
Or4a27 G A 2: 88,559,799 (GRCm39) T48I probably benign Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Or8b3b T C 9: 38,584,414 (GRCm39) I109V probably damaging Het
Pcdhga12 G A 18: 37,900,940 (GRCm39) V591M probably damaging Het
Phyhipl A G 10: 70,401,116 (GRCm39) S161P probably damaging Het
Pmfbp1 A G 8: 110,263,205 (GRCm39) T775A probably benign Het
Pou3f3 T C 1: 42,736,682 (GRCm39) V126A unknown Het
Rimoc1 T C 15: 4,021,336 (GRCm39) D73G probably damaging Het
Sec22c G T 9: 121,517,314 (GRCm39) A199E probably damaging Het
Sema3d C T 5: 12,603,181 (GRCm39) P395S probably damaging Het
Sh2b2 C T 5: 136,260,893 (GRCm39) E108K possibly damaging Het
Slfn3 A G 11: 83,105,616 (GRCm39) K538E possibly damaging Het
Spatc1l A T 10: 76,405,200 (GRCm39) D194V probably damaging Het
Stoml3 T C 3: 53,408,185 (GRCm39) V77A possibly damaging Het
Taco1 A G 11: 105,963,930 (GRCm39) I230V probably benign Het
Tfcp2 T C 15: 100,411,934 (GRCm39) T346A probably benign Het
Tmem8b C T 4: 43,686,188 (GRCm39) T273M probably damaging Het
Trav6-1 A G 14: 52,876,299 (GRCm39) N73S probably benign Het
Trav6d-5 A G 14: 53,033,060 (GRCm39) D103G probably damaging Het
Ttll5 T A 12: 85,937,806 (GRCm39) L379Q probably damaging Het
Ube3c T A 5: 29,803,846 (GRCm39) probably benign Het
Ubr3 A C 2: 69,727,769 (GRCm39) D44A probably benign Het
Upp2 G T 2: 58,457,443 (GRCm39) R5L unknown Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r17 C T 5: 109,600,712 (GRCm39) T670I probably damaging Het
Zfp433 A T 10: 81,556,122 (GRCm39) H208L probably damaging Het
Zfp616 A T 11: 73,974,744 (GRCm39) I429F possibly damaging Het
Other mutations in Reg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1695:Reg4 UTSW 3 98,143,677 (GRCm39) missense probably benign 0.00
R3896:Reg4 UTSW 3 98,132,082 (GRCm39) start gained probably benign
R4422:Reg4 UTSW 3 98,140,360 (GRCm39) missense possibly damaging 0.71
R5776:Reg4 UTSW 3 98,140,344 (GRCm39) missense possibly damaging 0.78
R6239:Reg4 UTSW 3 98,138,600 (GRCm39) missense probably null 0.08
R6530:Reg4 UTSW 3 98,132,148 (GRCm39) missense probably benign 0.03
R7634:Reg4 UTSW 3 98,140,428 (GRCm39) critical splice donor site probably null
R8224:Reg4 UTSW 3 98,132,011 (GRCm39) start gained probably benign
R9393:Reg4 UTSW 3 98,137,168 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- GCTTGTATTAGTCAGGGATTCCC -3'
(R):5'- ACTGTCCCACCATGCTAAGC -3'

Sequencing Primer
(F):5'- CAGAGACAGCATTTTCTGGC -3'
(R):5'- CTTGATAGCCAGTGCCCTG -3'
Posted On 2022-03-25