Incidental Mutation 'R4056:Ighv1-18'
ID475404
Institutional Source Beutler Lab
Gene Symbol Ighv1-18
Ensembl Gene ENSMUSG00000076695
Gene Nameimmunoglobulin heavy variable V1-18
SynonymsGm16856
MMRRC Submission 041617-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #R4056 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location114682632-114683065 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 114682667 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 106 (T106A)
Ref Sequence ENSEMBL: ENSMUSP00000142064 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103504] [ENSMUST00000194350]
Predicted Effect probably benign
Transcript: ENSMUST00000103504
SMART Domains Protein: ENSMUSP00000100285
Gene: ENSMUSG00000076695

DomainStartEndE-ValueType
Pfam:V-set 18 102 9.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194350
AA Change: T106A

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142064
Gene: ENSMUSG00000076695
AA Change: T106A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.4e-29 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T A 11: 80,375,503 probably benign Het
Abcf1 A G 17: 35,959,915 I510T possibly damaging Het
Adamts18 T A 8: 113,737,580 K749* probably null Het
Alms1 A G 6: 85,587,803 E53G unknown Het
Bmper A G 9: 23,399,629 H453R probably benign Het
Btg1 T A 10: 96,618,354 M1K probably null Het
Cntfr A G 4: 41,658,900 I277T probably damaging Het
Col6a4 C A 9: 106,026,466 R1642I probably damaging Het
Ctnna3 T C 10: 65,002,568 I808T probably damaging Het
Cyp1a1 T A 9: 57,700,149 V20D probably benign Het
Dnah17 T C 11: 118,070,538 T2554A probably benign Het
Fcgbp A T 7: 28,104,116 Q1715L probably benign Het
Gabarapl1 T C 6: 129,538,630 F77S probably damaging Het
Gm1966 G T 7: 106,604,009 D9E possibly damaging Het
Hpse2 T C 19: 43,294,275 K180E probably damaging Het
Hs3st2 T A 7: 121,500,702 L257Q probably damaging Het
Ints2 A C 11: 86,242,952 L424R probably damaging Het
Iqgap2 A G 13: 95,750,033 V114A probably damaging Het
Kalrn A T 16: 34,314,209 I401N probably damaging Het
Maats1 A G 16: 38,298,214 V741A probably benign Het
Mast2 T A 4: 116,337,501 probably benign Het
Myo18a A G 11: 77,812,013 E5G possibly damaging Het
Nav3 A T 10: 109,880,533 probably null Het
Net1 G A 13: 3,884,949 T359I probably damaging Het
Pcsk9 T A 4: 106,444,702 H616L probably benign Het
Plekha5 G T 6: 140,589,232 V597L possibly damaging Het
Plekhg3 T A 12: 76,565,247 I374N probably damaging Het
Pros1 A T 16: 62,900,645 R188* probably null Het
Rhbg C T 3: 88,243,448 V434I probably damaging Het
Rims1 A G 1: 22,292,939 probably benign Het
Rxfp2 T C 5: 150,051,633 probably null Het
Sbf2 T C 7: 110,441,466 I385V probably damaging Het
Slc22a23 A C 13: 34,299,004 Y181* probably null Het
Spata31 T A 13: 64,921,655 V539E probably benign Het
Trpv5 G A 6: 41,659,705 R436C probably damaging Het
Vmn1r13 G A 6: 57,209,985 C43Y probably benign Het
Wif1 G A 10: 121,082,194 V156I probably benign Het
Zfyve16 T C 13: 92,504,549 N1229S probably damaging Het
Other mutations in Ighv1-18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03269:Ighv1-18 APN 12 114682846 missense probably damaging 1.00
R5766:Ighv1-18 UTSW 12 114682907 missense probably damaging 1.00
R5801:Ighv1-18 UTSW 12 114682708 missense probably damaging 1.00
R6387:Ighv1-18 UTSW 12 114682660 missense probably damaging 0.98
R6981:Ighv1-18 UTSW 12 114682678 missense probably damaging 1.00
Predicted Primers
Posted On2017-04-14