Incidental Mutation 'R6530:Reg4'
ID522255
Institutional Source Beutler Lab
Gene Symbol Reg4
Ensembl Gene ENSMUSG00000027876
Gene Nameregenerating islet-derived family, member 4
Synonyms2010002L15Rik, RELP
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.015) question?
Stock #R6530 (G1)
Quality Score153.008
Status Validated
Chromosome3
Chromosomal Location98222156-98236748 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 98224832 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 20 (V20A)
Ref Sequence ENSEMBL: ENSMUSP00000029469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029469]
Predicted Effect probably benign
Transcript: ENSMUST00000029469
AA Change: V20A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029469
Gene: ENSMUSG00000027876
AA Change: V20A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
CLECT 29 154 5.33e-29 SMART
Meta Mutation Damage Score 0.096 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 T C 5: 35,588,695 L74P possibly damaging Het
Adamtsl4 T C 3: 95,681,054 T575A probably benign Het
Adck5 T G 15: 76,593,847 D224E probably benign Het
Asic4 A G 1: 75,472,335 N376S probably damaging Het
Atl3 T A 19: 7,522,134 D254E probably benign Het
Cacnb2 G T 2: 14,975,167 A274S probably damaging Het
Car2 T C 3: 14,896,731 V159A probably benign Het
Ccdc138 G C 10: 58,544,968 G474R probably damaging Het
Coq7 T C 7: 118,525,335 T203A probably benign Het
Dnah12 T C 14: 26,735,710 I877T probably damaging Het
Dnah7a C T 1: 53,503,697 R2438H probably benign Het
Efhc1 T A 1: 20,961,142 probably null Het
Fbn1 G A 2: 125,389,270 R459C probably damaging Het
Fer1l4 A G 2: 156,047,865 probably null Het
Gm38394 A G 1: 133,659,201 S133P probably damaging Het
Gm5114 G A 7: 39,408,090 P702S probably damaging Het
Gm9047 G A 6: 29,471,951 probably null Het
Inpp5f T A 7: 128,664,078 Y182* probably null Het
Irf6 C T 1: 193,157,349 T44M probably damaging Het
Loxhd1 A G 18: 77,412,151 N87S probably benign Het
Mtrf1 A T 14: 79,402,891 Q162L possibly damaging Het
Myoz3 G T 18: 60,579,520 probably null Het
Ncbp2 CGTCTGGATG CG 16: 31,956,343 probably null Het
Nkd2 C T 13: 73,822,690 G258R probably null Het
Olfr1065 A C 2: 86,445,482 S167A probably benign Het
Parg T C 14: 32,209,199 S176P probably damaging Het
Prdm2 A C 4: 143,134,047 V891G probably benign Het
Rasl10a T A 11: 5,058,367 I21N probably damaging Het
Shprh T A 10: 11,194,267 S1462R probably benign Het
Sult1e1 T C 5: 87,576,288 E270G probably benign Het
Trpm7 A C 2: 126,812,711 F1436V probably damaging Het
Ttc33 A G 15: 5,212,122 probably null Het
Ucp2 A T 7: 100,498,223 E161D probably benign Het
Vmn2r79 T C 7: 87,002,044 F217S possibly damaging Het
Wdr93 G A 7: 79,755,993 A207T probably damaging Het
Zfp949 T C 9: 88,567,287 probably null Het
Other mutations in Reg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1695:Reg4 UTSW 3 98236361 missense probably benign 0.00
R3896:Reg4 UTSW 3 98224766 start gained probably benign
R4422:Reg4 UTSW 3 98233044 missense possibly damaging 0.71
R5776:Reg4 UTSW 3 98233028 missense possibly damaging 0.78
R6239:Reg4 UTSW 3 98231284 missense probably null 0.08
Predicted Primers PCR Primer
(F):5'- ACGTGGTAGCTAAATCCCAG -3'
(R):5'- TGACTTAAGGGTGGCTTCCAAC -3'

Sequencing Primer
(F):5'- CTCCAGATTGCAGGTCTAGGAGAATC -3'
(R):5'- AACCGTCTCAGACTGGCTC -3'
Posted On2018-06-06