Incidental Mutation 'R8318:Ighv1-49'
ID 641824
Institutional Source Beutler Lab
Gene Symbol Ighv1-49
Ensembl Gene ENSMUSG00000076710
Gene Name immunoglobulin heavy variable 1-49
Synonyms Gm16830
MMRRC Submission 067855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R8318 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 115018843-115019136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115019051 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 48 (F48S)
Ref Sequence ENSEMBL: ENSMUSP00000141739 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103519] [ENSMUST00000192724]
AlphaFold A0A075B5V9
Predicted Effect probably damaging
Transcript: ENSMUST00000103519
AA Change: F29S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100300
Gene: ENSMUSG00000076710
AA Change: F29S

DomainStartEndE-ValueType
IGv 17 98 5.3e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192724
AA Change: F48S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000141739
Gene: ENSMUSG00000076710
AA Change: F48S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.1e-28 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T C 8: 23,605,567 (GRCm39) V1145A probably damaging Het
Ankrd35 G A 3: 96,592,038 (GRCm39) V775M probably damaging Het
Ankrd63 C T 2: 118,533,721 (GRCm39) V67M unknown Het
Arhgef5 T A 6: 43,252,933 (GRCm39) probably null Het
Atp13a2 A T 4: 140,734,335 (GRCm39) Q1152H probably benign Het
Carmil1 A G 13: 24,220,442 (GRCm39) L1094P probably benign Het
Col7a1 G A 9: 108,787,442 (GRCm39) A612T unknown Het
Csgalnact1 T C 8: 68,913,785 (GRCm39) E140G probably damaging Het
Ddx18 G T 1: 121,493,816 (GRCm39) A56D probably benign Het
Dixdc1 T C 9: 50,595,709 (GRCm39) probably null Het
Dpys G A 15: 39,648,061 (GRCm39) T498I probably benign Het
Ear6 A G 14: 52,091,722 (GRCm39) I90V probably benign Het
Egr1 T C 18: 34,996,663 (GRCm39) S482P probably damaging Het
Ehbp1 C T 11: 22,087,980 (GRCm39) R393Q probably benign Het
Enpep A G 3: 129,063,986 (GRCm39) I927T probably damaging Het
Ermard C T 17: 15,242,334 (GRCm39) T406I possibly damaging Het
Etl4 T C 2: 20,793,341 (GRCm39) S971P probably damaging Het
Fan1 C A 7: 63,999,803 (GRCm39) V861F probably damaging Het
Fbp1 A G 13: 63,012,825 (GRCm39) F328L probably benign Het
Fgd5 T A 6: 91,964,477 (GRCm39) F237I probably benign Het
Fmn1 T C 2: 113,195,502 (GRCm39) S401P unknown Het
Gabbr1 G A 17: 37,373,435 (GRCm39) E444K probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Kcnh4 A G 11: 100,643,154 (GRCm39) L371P probably damaging Het
Kcnk15 A G 2: 163,700,189 (GRCm39) T143A probably damaging Het
Klk1b4 T G 7: 43,860,335 (GRCm39) S150A possibly damaging Het
Krt6a A T 15: 101,602,682 (GRCm39) M1K probably null Het
Lama2 G A 10: 26,860,334 (GRCm39) S3051L probably damaging Het
Lgals4 T C 7: 28,533,940 (GRCm39) M38T probably benign Het
Mdn1 T C 4: 32,735,897 (GRCm39) probably null Het
Mindy1 A G 3: 95,199,936 (GRCm39) S246G probably damaging Het
Myo18a A G 11: 77,714,215 (GRCm39) T770A probably benign Het
Or13d1 T C 4: 52,971,104 (GRCm39) V161A probably benign Het
Or4a81 C T 2: 89,619,321 (GRCm39) C125Y possibly damaging Het
Or4c116 T A 2: 88,942,242 (GRCm39) I205F probably benign Het
Pcdhb19 T A 18: 37,630,999 (GRCm39) S265T possibly damaging Het
Pcna T C 2: 132,093,348 (GRCm39) Y133C probably damaging Het
Polr2b A G 5: 77,483,576 (GRCm39) E684G probably benign Het
Pon2 T C 6: 5,265,425 (GRCm39) I321V probably benign Het
Prss54 T A 8: 96,291,094 (GRCm39) M169L probably damaging Het
Rps3 T A 7: 99,132,938 (GRCm39) probably benign Het
Senp1 T C 15: 97,962,748 (GRCm39) D312G probably damaging Het
Serpina10 T A 12: 103,583,107 (GRCm39) T446S possibly damaging Het
Slc2a5 A G 4: 150,224,115 (GRCm39) D241G possibly damaging Het
Slc7a11 A G 3: 50,372,435 (GRCm39) probably null Het
Tgfbrap1 G C 1: 43,095,829 (GRCm39) C536W probably damaging Het
Trip11 C T 12: 101,879,063 (GRCm39) G9S unknown Het
Zfp626 C A 7: 27,517,670 (GRCm39) T217K possibly damaging Het
Other mutations in Ighv1-49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Ighv1-49 APN 12 115,019,076 (GRCm39) missense possibly damaging 0.89
R4473:Ighv1-49 UTSW 12 115,018,959 (GRCm39) missense probably damaging 1.00
R4945:Ighv1-49 UTSW 12 115,019,028 (GRCm39) missense possibly damaging 0.71
R5436:Ighv1-49 UTSW 12 115,019,081 (GRCm39) missense probably damaging 1.00
R5662:Ighv1-49 UTSW 12 115,019,027 (GRCm39) missense probably damaging 1.00
R8126:Ighv1-49 UTSW 12 115,019,230 (GRCm39) critical splice donor site probably benign
R9226:Ighv1-49 UTSW 12 115,019,073 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGACACACTCAGGATGTGG -3'
(R):5'- GCTTGCCAGTTCCAAATCTG -3'

Sequencing Primer
(F):5'- GTGTCTTGCACAGTAATAGACCGC -3'
(R):5'- GCTTGCCAGTTCCAAATCTGAAGAAG -3'
Posted On 2020-07-28