Incidental Mutation 'IGL02610:Ighv16-1'
ID 300441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv16-1
Ensembl Gene ENSMUSG00000076661
Gene Name immunoglobulin heavy variable 16-1
Synonyms Gm7005
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02610
Quality Score
Status
Chromosome 12
Chromosomal Location 114032448-114032746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114032733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 23 (V23E)
Ref Sequence ENSEMBL: ENSMUSP00000141383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103470] [ENSMUST00000195641]
AlphaFold A0A075B5S0
Predicted Effect possibly damaging
Transcript: ENSMUST00000103470
AA Change: V5E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100251
Gene: ENSMUSG00000076661
AA Change: V5E

DomainStartEndE-ValueType
IGv 17 99 2.15e-26 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000195641
AA Change: V23E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000141383
Gene: ENSMUSG00000076661
AA Change: V23E

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
IGv 35 117 8.7e-29 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
Ccdc93 T G 1: 121,420,700 (GRCm39) V527G probably benign Het
Ctcfl C A 2: 172,947,819 (GRCm39) probably benign Het
Dmd T C X: 82,707,762 (GRCm39) S359P probably damaging Het
Drc3 T C 11: 60,261,419 (GRCm39) F190S probably benign Het
Dync1h1 A T 12: 110,625,666 (GRCm39) K3943* probably null Het
Dzip3 A G 16: 48,772,016 (GRCm39) V551A probably damaging Het
Ep300 T A 15: 81,485,723 (GRCm39) L237M unknown Het
Gab1 A G 8: 81,526,728 (GRCm39) probably null Het
Gm6430 G A 1: 96,952,560 (GRCm39) noncoding transcript Het
Ikbkb T A 8: 23,165,088 (GRCm39) probably null Het
Ncr1 A T 7: 4,341,132 (GRCm39) N41I probably benign Het
Nfkbib T C 7: 28,459,274 (GRCm39) D319G probably damaging Het
Nkain3 T C 4: 20,469,459 (GRCm39) E85G probably damaging Het
Or51h1 G A 7: 102,308,774 (GRCm39) V249M probably benign Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Ppp2r2b A G 18: 42,781,840 (GRCm39) probably benign Het
Rgs11 G A 17: 26,426,605 (GRCm39) V279I probably benign Het
Rhod A G 19: 4,476,203 (GRCm39) F183L probably damaging Het
Slc35f3 A T 8: 127,047,956 (GRCm39) T99S probably damaging Het
Spata31e4 T C 13: 50,855,748 (GRCm39) V462A possibly damaging Het
Spock3 A G 8: 63,798,771 (GRCm39) Y264C probably damaging Het
Trnt1 T C 6: 106,755,779 (GRCm39) F278S possibly damaging Het
Ush2a T A 1: 188,176,663 (GRCm39) Y1276N probably damaging Het
Veph1 A G 3: 66,079,588 (GRCm39) L309P probably damaging Het
Vmn1r7 G T 6: 57,002,037 (GRCm39) F74L probably benign Het
Vsnl1 C T 12: 11,382,072 (GRCm39) W103* probably null Het
Other mutations in Ighv16-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01791:Ighv16-1 APN 12 114,032,589 (GRCm39) missense probably benign 0.02
R4832:Ighv16-1 UTSW 12 114,032,466 (GRCm39) missense probably damaging 0.97
R4843:Ighv16-1 UTSW 12 114,032,504 (GRCm39) nonsense probably null
R5086:Ighv16-1 UTSW 12 114,032,510 (GRCm39) missense probably benign 0.04
R5381:Ighv16-1 UTSW 12 114,032,593 (GRCm39) missense probably benign 0.10
R5626:Ighv16-1 UTSW 12 114,032,472 (GRCm39) missense probably damaging 0.99
R7363:Ighv16-1 UTSW 12 114,032,721 (GRCm39) missense probably damaging 1.00
R7820:Ighv16-1 UTSW 12 114,032,589 (GRCm39) missense probably benign 0.02
R8716:Ighv16-1 UTSW 12 114,032,616 (GRCm39) missense probably benign 0.01
R9061:Ighv16-1 UTSW 12 114,032,504 (GRCm39) nonsense probably null
Z1177:Ighv16-1 UTSW 12 114,032,745 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16