Incidental Mutation 'R0066:Ighv1-4'
ID 18047
Institutional Source Beutler Lab
Gene Symbol Ighv1-4
Ensembl Gene ENSMUSG00000095442
Gene Name immunoglobulin heavy variable 1-4
Synonyms Gm16694
MMRRC Submission 038357-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.448) question?
Stock # R0066 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 114450756-114451049 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 114450989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 40 (S40P)
Ref Sequence ENSEMBL: ENSMUSP00000100274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103493]
AlphaFold A0A075B5T4
Predicted Effect possibly damaging
Transcript: ENSMUST00000103493
AA Change: S40P

PolyPhen 2 Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100274
Gene: ENSMUSG00000095442
AA Change: S40P

DomainStartEndE-ValueType
IGv 36 117 4.98e-31 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 89.0%
  • 3x: 85.6%
  • 10x: 75.4%
  • 20x: 57.8%
Validation Efficiency 94% (112/119)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik A G 9: 22,119,177 (GRCm39) noncoding transcript Het
Aco2 T C 15: 81,787,666 (GRCm39) probably benign Het
Arsa T A 15: 89,358,539 (GRCm39) M288L possibly damaging Het
Atg2b A T 12: 105,614,708 (GRCm39) D1074E probably benign Het
Baiap2l1 A T 5: 144,221,372 (GRCm39) I174N probably damaging Het
Bptf A G 11: 106,952,962 (GRCm39) V199A possibly damaging Het
Btn2a2 T A 13: 23,662,655 (GRCm39) I432L probably benign Het
Ccdc150 A G 1: 54,395,850 (GRCm39) I778V probably benign Het
Cd200r2 G A 16: 44,730,037 (GRCm39) V194I possibly damaging Het
Cep350 A C 1: 155,786,964 (GRCm39) L1421R probably damaging Het
Col6a6 A T 9: 105,579,412 (GRCm39) C1938S probably damaging Het
Cspg4 A T 9: 56,795,418 (GRCm39) D1051V probably damaging Het
Cstf1 T A 2: 172,214,976 (GRCm39) N32K probably benign Het
Ctrb1 G A 8: 112,413,269 (GRCm39) R248* probably null Het
Cyp2d11 T A 15: 82,275,958 (GRCm39) M208L probably benign Het
Dbt A G 3: 116,337,478 (GRCm39) Q334R probably benign Het
Dcaf12 A G 4: 41,298,338 (GRCm39) V270A probably damaging Het
Dis3l T A 9: 64,226,447 (GRCm39) N361I probably benign Het
Dnm3 A G 1: 162,234,930 (GRCm39) V70A probably damaging Het
Dpy19l2 G A 9: 24,557,679 (GRCm39) probably benign Het
Dst C A 1: 34,228,634 (GRCm39) H2254N possibly damaging Het
Eif2b1 T G 5: 124,711,858 (GRCm39) probably null Het
Epm2aip1 A G 9: 111,101,531 (GRCm39) N168S probably benign Het
Fchsd2 A G 7: 100,927,631 (GRCm39) Y691C possibly damaging Het
Fndc8 A T 11: 82,788,398 (GRCm39) D76V probably benign Het
Frmd4a T C 2: 4,477,963 (GRCm39) L48P probably damaging Het
Gimap6 T A 6: 48,679,404 (GRCm39) I211F probably damaging Het
Gm15130 A G 2: 110,969,284 (GRCm39) probably benign Het
Gm19618 A T 6: 87,691,227 (GRCm39) Het
Gpatch1 G A 7: 34,986,652 (GRCm39) S768L probably damaging Het
Grb14 T G 2: 64,768,836 (GRCm39) probably null Het
Hnrnpd T C 5: 100,112,560 (GRCm39) E222G probably damaging Het
Kcnh4 T C 11: 100,648,626 (GRCm39) H26R probably benign Het
Kctd2 T G 11: 115,320,343 (GRCm39) probably benign Het
Macf1 G A 4: 123,325,943 (GRCm39) Q3066* probably null Het
Mfn2 G A 4: 147,969,902 (GRCm39) probably benign Het
Mmab T C 5: 114,574,526 (GRCm39) probably benign Het
Mrc1 T C 2: 14,266,011 (GRCm39) S310P probably benign Het
Mrps21 T C 3: 95,770,197 (GRCm39) Y44C probably null Het
Myh10 T A 11: 68,590,317 (GRCm39) F121Y probably damaging Het
Myo1f A G 17: 33,820,677 (GRCm39) D840G probably damaging Het
Nol6 G T 4: 41,119,572 (GRCm39) probably benign Het
Ntsr2 T C 12: 16,704,120 (GRCm39) I207T probably benign Het
Nwd1 T A 8: 73,438,484 (GRCm39) S1552T probably benign Het
Or11j4 T A 14: 50,630,659 (GRCm39) F149I probably benign Het
Pkd1l3 G T 8: 110,347,103 (GRCm39) G159C unknown Het
Plcb4 T C 2: 135,803,689 (GRCm39) S521P probably benign Het
Plcl1 A T 1: 55,752,634 (GRCm39) I993F probably damaging Het
Plekha7 T C 7: 115,756,743 (GRCm39) S640G probably damaging Het
Ptprn2 A C 12: 117,240,222 (GRCm39) N993T probably benign Het
Reck A G 4: 43,930,936 (GRCm39) N646D probably damaging Het
Rfx2 A T 17: 57,093,736 (GRCm39) probably benign Het
Ripk2 G A 4: 16,123,868 (GRCm39) Q436* probably null Het
Ryr1 C T 7: 28,704,992 (GRCm39) probably benign Het
Sema6b A G 17: 56,435,271 (GRCm39) V324A possibly damaging Het
Sik2 C A 9: 50,909,833 (GRCm39) M73I probably benign Het
Slc39a6 T C 18: 24,732,326 (GRCm39) K321E probably damaging Het
Slc7a4 C A 16: 17,391,875 (GRCm39) V520F probably benign Het
Sptan1 C A 2: 29,893,679 (GRCm39) probably benign Het
Stab1 C T 14: 30,879,027 (GRCm39) probably benign Het
Tbc1d17 C T 7: 44,493,495 (GRCm39) probably benign Het
Tbcd T A 11: 121,394,590 (GRCm39) L49* probably null Het
Tulp4 A T 17: 6,252,008 (GRCm39) N60I probably damaging Het
Ubqlnl A T 7: 103,798,145 (GRCm39) W451R probably damaging Het
Usp53 G T 3: 122,746,956 (GRCm39) C363* probably null Het
Utp4 A G 8: 107,649,530 (GRCm39) T660A possibly damaging Het
Vmn1r194 A T 13: 22,428,641 (GRCm39) Y86F probably benign Het
Vmn1r195 A T 13: 22,463,409 (GRCm39) H293L possibly damaging Het
Vmn1r231 T C 17: 21,109,998 (GRCm39) R306G probably benign Het
Vmn2r77 T C 7: 86,449,964 (GRCm39) V70A probably benign Het
Vps8 A G 16: 21,296,273 (GRCm39) E515G possibly damaging Het
Wdr18 C A 10: 79,796,937 (GRCm39) Y104* probably null Het
Xab2 A T 8: 3,663,880 (GRCm39) N346K probably damaging Het
Zdhhc12 C T 2: 29,982,547 (GRCm39) R50H probably damaging Het
Zdhhc8 A G 16: 18,043,064 (GRCm39) S379P probably benign Het
Other mutations in Ighv1-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Ighv1-4 APN 12 114,450,753 (GRCm39) unclassified probably benign
IGL02661:Ighv1-4 APN 12 114,450,850 (GRCm39) missense probably damaging 1.00
IGL02736:Ighv1-4 APN 12 114,450,872 (GRCm39) missense probably benign 0.12
PIT4403001:Ighv1-4 UTSW 12 114,450,824 (GRCm39) missense probably damaging 0.99
R2900:Ighv1-4 UTSW 12 114,450,788 (GRCm39) missense probably benign 0.28
R3014:Ighv1-4 UTSW 12 114,450,769 (GRCm39) missense possibly damaging 0.78
R4074:Ighv1-4 UTSW 12 114,451,147 (GRCm39) missense possibly damaging 0.52
R5505:Ighv1-4 UTSW 12 114,451,057 (GRCm39) missense possibly damaging 0.95
R6207:Ighv1-4 UTSW 12 114,451,142 (GRCm39) critical splice donor site probably benign
R6309:Ighv1-4 UTSW 12 114,451,015 (GRCm39) missense probably benign 0.33
R7286:Ighv1-4 UTSW 12 114,450,941 (GRCm39) missense probably benign 0.03
R7299:Ighv1-4 UTSW 12 114,450,908 (GRCm39) missense probably benign 0.24
R7300:Ighv1-4 UTSW 12 114,450,908 (GRCm39) missense probably benign 0.24
R7917:Ighv1-4 UTSW 12 114,451,165 (GRCm39) missense possibly damaging 0.55
R8374:Ighv1-4 UTSW 12 114,450,899 (GRCm39) missense probably benign 0.12
R9010:Ighv1-4 UTSW 12 114,450,949 (GRCm39) missense possibly damaging 0.88
R9127:Ighv1-4 UTSW 12 114,450,879 (GRCm39) nonsense probably null
Z1177:Ighv1-4 UTSW 12 114,451,024 (GRCm39) missense possibly damaging 0.94
Posted On 2013-03-25