Incidental Mutation 'R3029:Ighv7-2'
ID477715
Institutional Source Beutler Lab
Gene Symbol Ighv7-2
Ensembl Gene ENSMUSG00000076653
Gene Nameimmunoglobulin heavy variable 7-2
SynonymsGm16699
MMRRC Submission 040545-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #R3029 (G1)
Quality Score225
Status Not validated
Chromosome12
Chromosomal Location113912025-113912483 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 113912480 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 2 (F2L)
Ref Sequence ENSEMBL: ENSMUSP00000141892 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103462] [ENSMUST00000193133]
Predicted Effect probably benign
Transcript: ENSMUST00000103462
AA Change: F2L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100243
Gene: ENSMUSG00000076653
AA Change: F2L

DomainStartEndE-ValueType
IGv 33 116 7.66e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193133
AA Change: F2L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000141892
Gene: ENSMUSG00000076653
AA Change: F2L

DomainStartEndE-ValueType
IGv 34 117 3.2e-34 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik A G 1: 85,718,245 I213T probably benign Het
Atp8a2 CGT CGTGT 14: 59,691,465 probably null Het
Cdh15 G A 8: 122,862,024 R279Q probably damaging Het
Cdk6 G A 5: 3,390,817 probably null Het
Cryab T A 9: 50,756,338 I124N probably damaging Het
E2f5 A G 3: 14,603,665 I206V probably benign Het
Eya4 T C 10: 23,123,878 T396A probably benign Het
Fat2 T C 11: 55,284,709 Y1726C probably damaging Het
Gad1 G A 2: 70,594,690 V443I probably benign Het
H2-M11 C T 17: 36,548,150 T194I possibly damaging Het
Itgad T A 7: 128,178,371 I141N possibly damaging Het
Kcnh1 C T 1: 192,506,060 T970M probably benign Het
Mrc2 G A 11: 105,348,431 probably null Het
Nlrp1a T A 11: 71,123,630 T265S probably damaging Het
Nsun4 A G 4: 116,052,725 S213P possibly damaging Het
Pkdrej C T 15: 85,817,004 R1577Q probably benign Het
Proz A T 8: 13,061,042 I5F probably benign Het
Rbm48 A T 5: 3,596,043 F54I possibly damaging Het
Rgs20 T C 1: 5,070,053 D42G probably benign Het
Rxfp2 A C 5: 150,043,130 D111A probably benign Het
Sparcl1 T C 5: 104,093,226 T111A possibly damaging Het
Vmn2r14 T A 5: 109,215,910 L713F probably damaging Het
Other mutations in Ighv7-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02612:Ighv7-2 APN 12 113912146 missense probably damaging 1.00
R2077:Ighv7-2 UTSW 12 113912107 missense probably damaging 1.00
R4491:Ighv7-2 UTSW 12 113912480 missense probably benign 0.00
R4718:Ighv7-2 UTSW 12 113912469 missense possibly damaging 0.51
R4771:Ighv7-2 UTSW 12 113912467 missense probably benign 0.06
R4822:Ighv7-2 UTSW 12 113912272 missense probably damaging 1.00
R6277:Ighv7-2 UTSW 12 113912467 missense probably benign 0.06
R6372:Ighv7-2 UTSW 12 113912455 missense probably benign 0.06
Predicted Primers
Posted On2017-05-15