Incidental Mutation 'IGL00985:Retnlg'
ID29208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Retnlg
Ensembl Gene ENSMUSG00000022651
Gene Nameresistin like gamma
SynonymsFizz3, Relmg, Xcp1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL00985
Quality Score
Status
Chromosome16
Chromosomal Location48872621-48874496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 48874325 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 112 (R112H)
Ref Sequence ENSEMBL: ENSMUSP00000070238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065666]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065666
AA Change: R112H

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070238
Gene: ENSMUSG00000022651
AA Change: R112H

DomainStartEndE-ValueType
low complexity region 9 21 N/A INTRINSIC
Pfam:Resistin 29 116 1.6e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,543,918 noncoding transcript Het
Abca15 G A 7: 120,397,018 G1389E probably damaging Het
Adcy3 T C 12: 4,134,600 V92A probably damaging Het
Aplnr A T 2: 85,137,663 Y344F probably benign Het
Atm A T 9: 53,459,816 V2241E probably damaging Het
Cep290 T C 10: 100,567,161 probably benign Het
Cnpy1 A T 5: 28,209,154 Y91* probably null Het
Cobl C A 11: 12,254,843 G613W probably damaging Het
Csn1s2a T C 5: 87,784,580 S121P possibly damaging Het
Doxl2 A G 6: 48,977,547 S540G probably benign Het
Fam129c T C 8: 71,604,863 probably benign Het
Fam198a T C 9: 121,978,335 L515P probably damaging Het
Flg2 A T 3: 93,203,278 Y871F unknown Het
Gapvd1 T A 2: 34,695,563 D1008V probably damaging Het
Igfl3 T C 7: 18,180,075 probably null Het
Kmt2b A T 7: 30,579,927 V1470E probably damaging Het
Mcc A T 18: 44,491,239 L413Q probably damaging Het
Mia2 G A 12: 59,188,360 G610D probably damaging Het
Mlst8 A T 17: 24,477,313 D147E probably damaging Het
Muc19 G T 15: 91,886,749 noncoding transcript Het
Mybpc3 A G 2: 91,135,359 E1172G probably benign Het
Nop14 A T 5: 34,644,789 L557Q probably damaging Het
P3h3 T C 6: 124,845,589 T540A probably benign Het
Phc3 T A 3: 30,914,197 I897F probably benign Het
Plekhh2 G A 17: 84,563,928 V205I probably benign Het
Poc5 A G 13: 96,410,746 K506E probably damaging Het
Pum1 C A 4: 130,743,789 T450K probably damaging Het
Rgl2 T C 17: 33,932,101 V101A probably damaging Het
Serinc5 A G 13: 92,706,271 T410A probably damaging Het
Shroom1 T C 11: 53,465,969 V553A probably benign Het
Slco4c1 A T 1: 96,841,187 W317R probably damaging Het
Snap91 T C 9: 86,821,737 T268A probably benign Het
Supt16 T C 14: 52,161,691 K1044E possibly damaging Het
Tarbp1 A T 8: 126,459,161 L431I probably damaging Het
Tas2r124 C T 6: 132,755,529 T267I probably benign Het
Tm7sf3 C T 6: 146,606,194 V457I possibly damaging Het
Tmem132c A T 5: 127,504,866 S382C probably damaging Het
Tmprss7 C A 16: 45,662,322 C582F probably damaging Het
Tsc2 T C 17: 24,597,131 E1694G probably damaging Het
Txndc2 G T 17: 65,638,549 S211Y possibly damaging Het
Ubr3 A C 2: 70,003,431 T205P probably damaging Het
Vmn2r116 G A 17: 23,401,515 G741D probably damaging Het
Vps8 G A 16: 21,477,584 probably benign Het
Wdr19 G A 5: 65,252,299 D1127N probably benign Het
Zim1 T A 7: 6,682,760 Y83F possibly damaging Het
Other mutations in Retnlg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02500:Retnlg APN 16 48872960 missense probably benign 0.16
IGL02588:Retnlg APN 16 48872892 missense probably benign 0.07
IGL03206:Retnlg APN 16 48874292 missense probably damaging 1.00
R1165:Retnlg UTSW 16 48873654 missense possibly damaging 0.76
R1751:Retnlg UTSW 16 48873628 missense possibly damaging 0.54
R1767:Retnlg UTSW 16 48873628 missense possibly damaging 0.54
R1796:Retnlg UTSW 16 48874247 missense probably benign 0.06
R2037:Retnlg UTSW 16 48874252 missense probably damaging 1.00
R4780:Retnlg UTSW 16 48874334 missense possibly damaging 0.74
R7298:Retnlg UTSW 16 48872874 missense probably benign
Posted On2013-04-17