Incidental Mutation 'R9671:Ighv13-2'
ID 728062
Institutional Source Beutler Lab
Gene Symbol Ighv13-2
Ensembl Gene ENSMUSG00000076671
Gene Name immunoglobulin heavy variable 13-2
Synonyms Gm15449
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R9671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114321381-114321680 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114321796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 15 (N15D)
Ref Sequence ENSEMBL: ENSMUSP00000141621 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000125484] [ENSMUST00000183954]
AlphaFold A0A087WPN7
Predicted Effect probably benign
Transcript: ENSMUST00000125484
AA Change: N15D

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000141621
Gene: ENSMUSG00000076671
AA Change: N15D

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,948 (GRCm39) L228* probably null Het
Acsf2 T C 11: 94,460,802 (GRCm39) D368G probably benign Het
Adat2 T A 10: 13,438,452 (GRCm39) N177K probably damaging Het
Adgrf5 G T 17: 43,760,795 (GRCm39) R830M probably damaging Het
Apoh G A 11: 108,286,792 (GRCm39) W72* probably null Het
Bcl2l12 G T 7: 44,642,301 (GRCm39) P195Q probably damaging Het
Cacna1b T C 2: 24,596,282 (GRCm39) M470V probably benign Het
Ccdc188 A T 16: 18,036,268 (GRCm39) R79* probably null Het
Cd34 T A 1: 194,641,501 (GRCm39) M309K probably damaging Het
Clec4a2 A T 6: 123,101,942 (GRCm39) K32N possibly damaging Het
Csmd3 G T 15: 47,845,299 (GRCm39) P88H Het
Def6 A G 17: 28,438,755 (GRCm39) S154G probably benign Het
Dot1l T C 10: 80,620,613 (GRCm39) L530P probably damaging Het
Fam13a A G 6: 58,951,014 (GRCm39) probably null Het
Fat3 G A 9: 16,286,871 (GRCm39) A884V possibly damaging Het
Frem3 C A 8: 81,339,134 (GRCm39) H476N probably benign Het
Gm3404 T C 5: 146,463,031 (GRCm39) V71A probably benign Het
Hnf4g T G 3: 3,703,273 (GRCm39) S53R probably benign Het
Jak1 T C 4: 101,034,926 (GRCm39) K339E possibly damaging Het
Klhl35 C G 7: 99,117,702 (GRCm39) P82R probably benign Het
Klhl40 T A 9: 121,607,743 (GRCm39) V301E probably benign Het
Knl1 A T 2: 118,901,089 (GRCm39) N930I probably damaging Het
Ltbp1 A G 17: 75,603,217 (GRCm39) probably null Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Myo3b A G 2: 70,086,908 (GRCm39) H852R probably damaging Het
Or51a6 A T 7: 102,604,633 (GRCm39) H58Q probably benign Het
Pkd2 A G 5: 104,637,256 (GRCm39) D623G probably damaging Het
Pramel14 A C 4: 143,719,687 (GRCm39) I226S probably benign Het
Rfxank T C 8: 70,588,198 (GRCm39) T118A probably benign Het
Rxrb T A 17: 34,252,020 (GRCm39) probably null Het
Sec14l3 G A 11: 4,025,486 (GRCm39) V337M probably damaging Het
Sema3e A G 5: 14,212,217 (GRCm39) T98A probably benign Het
Ska1 A T 18: 74,333,010 (GRCm39) M136K probably damaging Het
Slc19a3 T C 1: 83,000,297 (GRCm39) D240G probably benign Het
Snph T C 2: 151,436,331 (GRCm39) Y199C probably damaging Het
Sorl1 A T 9: 41,943,077 (GRCm39) I933N possibly damaging Het
Spag16 C A 1: 69,883,495 (GRCm39) H75N probably benign Het
Spice1 C T 16: 44,199,671 (GRCm39) R708C probably benign Het
Tet3 C A 6: 83,381,136 (GRCm39) S344I possibly damaging Het
Trav5-4 A G 14: 53,941,816 (GRCm39) E63G possibly damaging Het
Trp73 G A 4: 154,148,403 (GRCm39) P337L probably benign Het
Ttn A G 2: 76,778,359 (GRCm39) F1343L unknown Het
Vipas39 T C 12: 87,292,985 (GRCm39) H320R probably benign Het
Vmn2r4 T C 3: 64,317,271 (GRCm39) I156V probably benign Het
Wdr81 T C 11: 75,345,189 (GRCm39) D26G probably damaging Het
Zscan4d A T 7: 10,898,945 (GRCm39) F111I 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
R8372:Ighv13-2 UTSW 12 114,321,681 (GRCm39) nonsense probably null
R9095:Ighv13-2 UTSW 12 114,321,494 (GRCm39) missense probably benign 0.01
Z1088:Ighv13-2 UTSW 12 114,321,435 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GAATCCCGAGGTAACACAGG -3'
(R):5'- TTTCTAGGGCTCCCATATCTCAGG -3'

Sequencing Primer
(F):5'- CACAGGAGAGTTTCAGAGAATTTCC -3'
(R):5'- CTCAGGTTTAAATATAGCAGGAAGAC -3'
Posted On 2022-10-06