Incidental Mutation 'R7676:Ighv10-3'
ID 592470
Institutional Source Beutler Lab
Gene Symbol Ighv10-3
Ensembl Gene ENSMUSG00000095700
Gene Name immunoglobulin heavy variable V10-3
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R7676 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114523441-114523905 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114523679 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 41 (C41R)
Ref Sequence ENSEMBL: ENSMUSP00000100276 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103495]
AlphaFold A0A075B5T6
Predicted Effect probably damaging
Transcript: ENSMUST00000103495
AA Change: C41R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100276
Gene: ENSMUSG00000095700
AA Change: C41R

DomainStartEndE-ValueType
IGv 36 119 4.79e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,294,987 D116G possibly damaging Het
Adam6a G A 12: 113,544,576 G190S probably benign Het
Adnp G A 2: 168,183,447 R643* probably null Het
Akap6 A G 12: 52,886,850 D375G possibly damaging Het
Aldh1l2 G T 10: 83,508,111 A480E probably benign Het
Ccdc175 T A 12: 72,102,047 Q779L possibly damaging Het
D430042O09Rik A G 7: 125,850,377 D897G probably benign Het
Dnah7b T G 1: 46,234,164 L2484* probably null Het
Dnajc21 T C 15: 10,462,344 Y65C possibly damaging Het
Dnhd1 C A 7: 105,684,087 N255K probably benign Het
Efhc1 G T 1: 20,967,369 G257W probably damaging Het
Fars2 C A 13: 36,205,043 L172I probably benign Het
Fat4 T C 3: 38,891,697 Y1580H probably damaging Het
Fli1 T A 9: 32,428,030 N253Y probably benign Het
Foxd3 G T 4: 99,656,914 C97F probably damaging Het
Gem C A 4: 11,711,170 D120E possibly damaging Het
Kcnab3 A G 11: 69,326,727 S16G probably benign Het
Keg1 T G 19: 12,716,045 V154G probably benign Het
Lrrc45 G A 11: 120,720,322 R602H probably damaging Het
Ltbp1 A G 17: 75,291,297 D591G possibly damaging Het
Mmp10 T A 9: 7,503,549 V140D probably damaging Het
Nat8f2 A T 6: 85,868,212 M56K probably benign Het
Nckipsd T C 9: 108,814,954 F525L probably damaging Het
Olfr1328 A G 4: 118,934,150 S233P probably damaging Het
Olfr1406 T A 1: 173,183,553 K294* probably null Het
Olfr804 G T 10: 129,705,286 S136I possibly damaging Het
P2ry12 T A 3: 59,217,757 M166L possibly damaging Het
Palm3 T C 8: 84,029,445 S529P possibly damaging Het
Pdilt A T 7: 119,494,997 Y344N probably damaging Het
Pip4k2b A T 11: 97,720,362 N309K probably benign Het
Pkd1l1 C T 11: 8,962,708 V166I Het
Plxdc2 C T 2: 16,712,083 S377L probably benign Het
Rc3h2 A T 2: 37,405,332 V224E possibly damaging Het
Stk32c T A 7: 139,105,304 D428V possibly damaging Het
Ttn T C 2: 76,814,607 D12968G probably damaging Het
Tulp2 G T 7: 45,521,027 V457F possibly damaging Het
Vcan A T 13: 89,691,789 S1879T probably damaging Het
Vmn1r51 T C 6: 90,129,455 Y118H probably benign Het
Zfat A C 15: 68,224,844 V40G possibly damaging Het
Other mutations in Ighv10-3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02130:Ighv10-3 APN 12 114523501 missense probably damaging 1.00
IGL02433:Ighv10-3 APN 12 114523894 utr 5 prime probably benign
IGL03154:Ighv10-3 APN 12 114523887 start codon destroyed probably benign 0.08
R0392:Ighv10-3 UTSW 12 114523840 critical splice donor site probably benign
R4342:Ighv10-3 UTSW 12 114523504 missense possibly damaging 0.74
R5288:Ighv10-3 UTSW 12 114523505 missense probably benign 0.00
R6330:Ighv10-3 UTSW 12 114523466 missense possibly damaging 0.89
R9718:Ighv10-3 UTSW 12 114523634 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAGATAGAGCATGCTTTGTG -3'
(R):5'- AACATTGAACATGGTGTTGGGG -3'

Sequencing Primer
(F):5'- GAGCATGCTTTGTGAATCATCTC -3'
(R):5'- AACATGGTGTTGGGGCTTAAG -3'
Posted On 2019-11-12