Incidental Mutation 'R8372:Ighv13-2'
ID 646506
Institutional Source Beutler Lab
Gene Symbol Ighv13-2
Ensembl Gene ENSMUSG00000076671
Gene Name immunoglobulin heavy variable 13-2
Synonyms Gm15449
MMRRC Submission 067875-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R8372 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114321381-114321680 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 114321681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 19 (C19*)
Ref Sequence ENSEMBL: ENSMUSP00000141621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125484] [ENSMUST00000183954]
AlphaFold A0A087WPN7
Predicted Effect probably null
Transcript: ENSMUST00000125484
AA Change: C19*
SMART Domains Protein: ENSMUSP00000141621
Gene: ENSMUSG00000076671
AA Change: C19*

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 1.9e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183954
SMART Domains Protein: ENSMUSP00000139850
Gene: ENSMUSG00000076671

DomainStartEndE-ValueType
IGv 17 100 1.9e-33 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,682,152 (GRCm39) D155G probably damaging Het
Adgrg7 T A 16: 56,616,114 (GRCm39) probably benign Het
Agap2 T C 10: 126,925,185 (GRCm39) S833P unknown Het
B4galnt2 T C 11: 95,760,106 (GRCm39) E307G possibly damaging Het
Bcl9l A G 9: 44,418,528 (GRCm39) M826V probably benign Het
C2cd3 C T 7: 100,104,487 (GRCm39) Q2167* probably null Het
Ccdc7a T C 8: 129,547,585 (GRCm39) E1289G possibly damaging Het
Cep290 T C 10: 100,385,203 (GRCm39) V1893A probably benign Het
Clec4g T C 8: 3,757,990 (GRCm39) probably benign Het
Cspg4 A G 9: 56,794,479 (GRCm39) E738G probably damaging Het
Cyth4 A G 15: 78,481,335 (GRCm39) probably benign Het
Dab2 A C 15: 6,446,406 (GRCm39) S8R possibly damaging Het
Dclk3 A G 9: 111,314,081 (GRCm39) D719G probably damaging Het
Dync2h1 A G 9: 7,111,514 (GRCm39) V2540A possibly damaging Het
Elavl1 T C 8: 4,339,664 (GRCm39) N306S probably damaging Het
Ercc6l2 T C 13: 64,001,563 (GRCm39) V459A probably damaging Het
Fcgr2b A G 1: 170,793,330 (GRCm39) V233A probably benign Het
Gfm2 T C 13: 97,301,552 (GRCm39) S452P possibly damaging Het
Gpr15 A G 16: 58,538,850 (GRCm39) F80L probably benign Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Klhl33 C T 14: 51,129,689 (GRCm39) R312Q probably damaging Het
Klhl9 A G 4: 88,639,596 (GRCm39) L215P probably damaging Het
Krtap20-1 G C 16: 88,812,385 (GRCm39) G57R unknown Het
Or9k2b A G 10: 130,016,656 (GRCm39) F31S probably damaging Het
Parp8 T A 13: 116,991,786 (GRCm39) Q872H probably damaging Het
Plxnb2 A G 15: 89,042,696 (GRCm39) S1531P probably damaging Het
Psg16 A G 7: 16,829,240 (GRCm39) T275A probably benign Het
Ptprk A G 10: 28,230,688 (GRCm39) T260A possibly damaging Het
Rapgef1 G A 2: 29,600,243 (GRCm39) G655S probably damaging Het
Rbm15b T C 9: 106,762,762 (GRCm39) M19V Het
Rbm42 A G 7: 30,340,631 (GRCm39) S447P unknown Het
Rsf1 T C 7: 97,311,624 (GRCm39) S785P Het
Scnn1a A G 6: 125,320,681 (GRCm39) N578S probably damaging Het
Slc39a7 T C 17: 34,249,639 (GRCm39) N169D probably damaging Het
Spp1 A G 5: 104,588,122 (GRCm39) T175A probably benign Het
Tigd5 A G 15: 75,782,337 (GRCm39) H233R probably benign Het
Tmprss3 C T 17: 31,403,671 (GRCm39) V377I probably benign Het
Vmn1r75 A T 7: 11,614,657 (GRCm39) I130F probably benign Het
Xpo4 A G 14: 57,835,341 (GRCm39) probably null Het
Xrn1 A G 9: 95,906,166 (GRCm39) T1186A probably benign Het
Zcchc4 T C 5: 52,953,506 (GRCm39) Y172H probably damaging Het
Other mutations in Ighv13-2
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4468001:Ighv13-2 UTSW 12 114,321,593 (GRCm39) missense probably benign 0.02
R3847:Ighv13-2 UTSW 12 114,321,418 (GRCm39) missense probably damaging 1.00
R5451:Ighv13-2 UTSW 12 114,321,473 (GRCm39) missense probably damaging 1.00
R7853:Ighv13-2 UTSW 12 114,321,544 (GRCm39) missense probably damaging 1.00
R9095:Ighv13-2 UTSW 12 114,321,494 (GRCm39) missense probably benign 0.01
R9671:Ighv13-2 UTSW 12 114,321,796 (GRCm39) missense probably benign 0.04
Z1088:Ighv13-2 UTSW 12 114,321,435 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AATCTGCCTTTCACAGACTCTG -3'
(R):5'- CCTATTCAGTGATCAAGTCTCAACAC -3'

Sequencing Primer
(F):5'- GCCTTTCACAGACTCTGCATAATTTG -3'
(R):5'- CACAAAATATCTATCATGGAGTTGGG -3'
Posted On 2020-09-02