Incidental Mutation 'R7771:Ighv1-23'
ID 598590
Institutional Source Beutler Lab
Gene Symbol Ighv1-23
Ensembl Gene ENSMUSG00000103290
Gene Name immunoglobulin heavy variable V1-23
Synonyms Ighv1-23, immunoglobulin heavy variable V1-23
MMRRC Submission 045827-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.678) question?
Stock # R7771 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114728070-114728363 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 114728356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 22 (Q22L)
Ref Sequence ENSEMBL: ENSMUSP00000141293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000194625]
AlphaFold A0A0A6YVW3
Predicted Effect probably benign
Transcript: ENSMUST00000194625
AA Change: Q22L

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000141293
Gene: ENSMUSG00000103290
AA Change: Q22L

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4.5e-26 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 C T 2: 69,069,535 (GRCm39) A1287T probably damaging Het
Ahnak A G 19: 8,992,411 (GRCm39) K4565R probably damaging Het
Asb13 A G 13: 3,699,463 (GRCm39) Y221C probably damaging Het
BB014433 C T 8: 15,092,395 (GRCm39) V153M probably damaging Het
Brip1 T C 11: 85,952,850 (GRCm39) E977G probably benign Het
C3 T A 17: 57,522,797 (GRCm39) D1029V probably damaging Het
Ccdc116 T C 16: 16,957,455 (GRCm39) E568G probably benign Het
Cdhr2 T C 13: 54,866,088 (GRCm39) V296A probably damaging Het
Cenpe A G 3: 134,946,702 (GRCm39) probably null Het
Cnot1 A G 8: 96,491,753 (GRCm39) V357A probably damaging Het
Coa3 A T 11: 101,169,641 (GRCm39) M38K possibly damaging Het
Cyp2d26 T C 15: 82,675,947 (GRCm39) N255S probably benign Het
Cysrt1 T C 2: 25,129,237 (GRCm39) S92G probably benign Het
D030056L22Rik A G 19: 18,690,842 (GRCm39) E52G possibly damaging Het
Derl1 T C 15: 57,743,436 (GRCm39) D97G probably damaging Het
Ebf3 A G 7: 136,911,092 (GRCm39) Y141H probably damaging Het
Eci1 T A 17: 24,652,125 (GRCm39) L49* probably null Het
Gzma C T 13: 113,234,829 (GRCm39) C54Y probably damaging Het
Hydin A G 8: 111,291,717 (GRCm39) N3403S probably damaging Het
Ide T C 19: 37,275,525 (GRCm39) N495D Het
Itgb2l A G 16: 96,228,172 (GRCm39) C444R probably damaging Het
Kcnj3 C A 2: 55,336,949 (GRCm39) H272N probably damaging Het
Lrp6 C T 6: 134,439,579 (GRCm39) C1218Y probably damaging Het
Lrrd1 T C 5: 3,916,476 (GRCm39) M831T possibly damaging Het
Map3k11 A G 19: 5,740,636 (GRCm39) E121G probably damaging Het
Mzt1 A T 14: 99,278,012 (GRCm39) I52N probably damaging Het
Or1j11 T C 2: 36,312,156 (GRCm39) S249P possibly damaging Het
Or52z12 A G 7: 103,233,297 (GRCm39) I23V probably benign Het
Or7e166 T A 9: 19,624,767 (GRCm39) F215I probably benign Het
Pcdhb17 A C 18: 37,619,962 (GRCm39) Y584S possibly damaging Het
Per3 A T 4: 151,110,657 (GRCm39) D380E probably damaging Het
Per3 A T 4: 151,125,902 (GRCm39) L139Q probably damaging Het
Pgap6 T C 17: 26,341,047 (GRCm39) Y717H probably damaging Het
Pik3cg T C 12: 32,254,013 (GRCm39) H658R probably benign Het
Pitpnm3 G A 11: 71,952,314 (GRCm39) Q626* probably null Het
Polr3e T C 7: 120,539,801 (GRCm39) V542A probably benign Het
Rgs22 T A 15: 36,050,224 (GRCm39) H866L possibly damaging Het
Rnf150 A G 8: 83,590,832 (GRCm39) E65G probably benign Het
Sema3f C A 9: 107,569,625 (GRCm39) R100L possibly damaging Het
Skic3 A G 13: 76,283,149 (GRCm39) H792R probably benign Het
Smim18 T C 8: 34,232,370 (GRCm39) D83G possibly damaging Het
Snx13 T A 12: 35,174,527 (GRCm39) D685E probably benign Het
Stat5a A C 11: 100,754,045 (GRCm39) N125T probably benign Het
Stk24 T C 14: 121,575,045 (GRCm39) E21G probably damaging Het
Tasor A G 14: 27,189,516 (GRCm39) T923A probably damaging Het
Tlr3 C T 8: 45,856,076 (GRCm39) V35I probably benign Het
Tmprss11b A T 5: 86,809,554 (GRCm39) probably null Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc39a T C 4: 109,288,647 (GRCm39) Y276H probably damaging Het
Vmn2r98 T A 17: 19,287,460 (GRCm39) probably null Het
Wdr73 G A 7: 80,542,975 (GRCm39) A211V probably benign Het
Zc3h4 T C 7: 16,163,824 (GRCm39) V673A unknown Het
Zfp382 A G 7: 29,832,760 (GRCm39) H137R probably damaging Het
Zp2 T G 7: 119,742,865 (GRCm39) D89A probably damaging Het
Zpld2 A T 4: 133,922,754 (GRCm39) N526K probably benign Het
Zranb3 A C 1: 127,960,605 (GRCm39) Y220D probably damaging Het
Zswim8 G A 14: 20,763,048 (GRCm39) V316I probably damaging Het
Other mutations in Ighv1-23
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Ighv1-23 UTSW 12 114,728,087 (GRCm39) missense probably benign 0.10
R3414:Ighv1-23 UTSW 12 114,728,087 (GRCm39) missense probably benign 0.10
R4602:Ighv1-23 UTSW 12 114,728,179 (GRCm39) missense probably benign 0.27
R4911:Ighv1-23 UTSW 12 114,728,372 (GRCm39) missense possibly damaging 0.81
R5347:Ighv1-23 UTSW 12 114,728,376 (GRCm39) critical splice acceptor site probably benign
R6603:Ighv1-23 UTSW 12 114,728,141 (GRCm39) missense probably damaging 1.00
R7438:Ighv1-23 UTSW 12 114,728,095 (GRCm39) missense probably damaging 1.00
R8328:Ighv1-23 UTSW 12 114,728,116 (GRCm39) missense probably damaging 1.00
R8858:Ighv1-23 UTSW 12 114,728,083 (GRCm39) missense probably benign 0.39
R9283:Ighv1-23 UTSW 12 114,728,225 (GRCm39) missense probably damaging 1.00
Z1177:Ighv1-23 UTSW 12 114,728,305 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGTAGGCAGTACCACAAGTTTC -3'
(R):5'- CTTGGGTCTATGTCCACACC -3'

Sequencing Primer
(F):5'- TAGGCAGTACCACAAGTTTCAGGATC -3'
(R):5'- AAACATCCTATGATCAGTGTCCTC -3'
Posted On 2019-11-26