Incidental Mutation 'R6074:Ighv1-75'
ID 482660
Institutional Source Beutler Lab
Gene Symbol Ighv1-75
Ensembl Gene ENSMUSG00000096020
Gene Name immunoglobulin heavy variable 1-75
Synonyms Gm16811
MMRRC Submission 044235-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.150) question?
Stock # R6074 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 115797570-115797863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115798007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 4 (S4G)
Ref Sequence ENSEMBL: ENSMUSP00000100325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103544]
AlphaFold A0A075B5Y2
Predicted Effect probably benign
Transcript: ENSMUST00000103544
AA Change: S4G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000100325
Gene: ENSMUSG00000096020
AA Change: S4G

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 2.97e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198144
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amigo1 T A 3: 108,099,009 (GRCm39) C189* probably null Het
Auts2 G T 5: 131,505,828 (GRCm39) probably benign Het
Cadps2 C A 6: 23,626,670 (GRCm39) W177L probably damaging Het
Camk2b G T 11: 5,939,635 (GRCm39) P223Q probably damaging Het
Ccdc74a C A 16: 17,464,591 (GRCm39) S9* probably null Het
Ccnt1 A C 15: 98,441,205 (GRCm39) Y688D probably damaging Het
Cdhr1 T C 14: 36,801,600 (GRCm39) N781S probably benign Het
Ceacam3 C T 7: 16,885,484 (GRCm39) T29I probably benign Het
Cep170b T C 12: 112,710,589 (GRCm39) S1473P probably damaging Het
Col19a1 T A 1: 24,565,564 (GRCm39) T256S unknown Het
Eif2d T A 1: 131,094,079 (GRCm39) D423E probably damaging Het
Fam13a A G 6: 58,966,723 (GRCm39) probably null Het
Gaa G A 11: 119,175,012 (GRCm39) R871H probably benign Het
Galnt12 T A 4: 47,112,405 (GRCm39) V37D probably damaging Het
Glp2r A G 11: 67,637,640 (GRCm39) S13P unknown Het
Gnptab C T 10: 88,268,940 (GRCm39) L548F probably damaging Het
Heg1 C T 16: 33,547,573 (GRCm39) P787S possibly damaging Het
Hivep2 T A 10: 14,007,485 (GRCm39) M1361K probably benign Het
Hivep3 T C 4: 119,954,891 (GRCm39) I1069T possibly damaging Het
Hspg2 A G 4: 137,268,046 (GRCm39) D2121G probably benign Het
Htatip2 A G 7: 49,422,322 (GRCm39) probably null Het
Ip6k1 A G 9: 107,901,308 (GRCm39) probably benign Het
Kcna6 A G 6: 126,716,242 (GRCm39) S216P probably benign Het
Kif21a T A 15: 90,865,095 (GRCm39) T526S probably benign Het
Kng2 C T 16: 22,819,346 (GRCm39) G230D probably benign Het
Lgi2 A T 5: 52,703,984 (GRCm39) F216I probably benign Het
Lratd1 G A 12: 14,200,512 (GRCm39) H72Y probably benign Het
Lss T A 10: 76,379,693 (GRCm39) N383K probably damaging Het
Mical1 T C 10: 41,362,061 (GRCm39) M929T probably benign Het
Mroh2a A G 1: 88,186,386 (GRCm39) S64G probably benign Het
Nat8f4 A G 6: 85,878,169 (GRCm39) V118A probably damaging Het
Or10j5 T A 1: 172,784,945 (GRCm39) N194K probably benign Het
Or4p23 A C 2: 88,576,566 (GRCm39) L222R probably damaging Het
Or6b2 G A 1: 92,407,497 (GRCm39) T282M probably benign Het
Osbpl11 T A 16: 33,030,335 (GRCm39) S188T probably benign Het
Pea15a C T 1: 172,026,752 (GRCm39) R85H possibly damaging Het
Ppp1r13b A G 12: 111,798,836 (GRCm39) I919T probably damaging Het
Rasgrf1 A G 9: 89,835,968 (GRCm39) D232G probably benign Het
Rp1 A G 1: 4,415,602 (GRCm39) S1837P probably benign Het
Samd5 T A 10: 9,550,334 (GRCm39) Y125F possibly damaging Het
Skint5 T C 4: 113,662,397 (GRCm39) T597A unknown Het
Slc25a12 A G 2: 71,106,798 (GRCm39) F605L probably benign Het
Slc39a12 C T 2: 14,412,290 (GRCm39) Q321* probably null Het
Slc6a19 T C 13: 73,837,882 (GRCm39) S206G probably benign Het
Tacc2 T A 7: 130,227,165 (GRCm39) H1283Q possibly damaging Het
Thumpd3 A G 6: 113,036,971 (GRCm39) E290G possibly damaging Het
Timd2 C T 11: 46,577,999 (GRCm39) G44D possibly damaging Het
Tmem74 A G 15: 43,730,134 (GRCm39) V303A possibly damaging Het
Tpo A G 12: 30,128,186 (GRCm39) V785A probably benign Het
Tpra1 T A 6: 88,888,919 (GRCm39) I367N possibly damaging Het
Txnrd2 T C 16: 18,256,297 (GRCm39) I95T probably damaging Het
Usp32 A G 11: 84,885,399 (GRCm39) V1216A probably benign Het
Usp54 C A 14: 20,602,167 (GRCm39) M1394I probably benign Het
Vmn2r13 A G 5: 109,322,167 (GRCm39) F177L probably benign Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Wdfy4 C T 14: 32,805,596 (GRCm39) probably null Het
Wnk2 A T 13: 49,204,875 (GRCm39) C458S probably damaging Het
Xkr6 T G 14: 63,844,519 (GRCm39) F181V possibly damaging Het
Zfp212 T A 6: 47,903,986 (GRCm39) C149* probably null Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp661 A G 2: 127,419,793 (GRCm39) S116P probably benign Het
Zfp770 A G 2: 114,026,870 (GRCm39) Y400H possibly damaging Het
Other mutations in Ighv1-75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00962:Ighv1-75 APN 12 115,797,883 (GRCm39) splice site probably benign
IGL02342:Ighv1-75 APN 12 115,797,878 (GRCm39) splice site probably benign
IGL02553:Ighv1-75 APN 12 115,797,725 (GRCm39) missense probably damaging 1.00
R2696:Ighv1-75 UTSW 12 115,797,826 (GRCm39) missense probably benign 0.02
R5259:Ighv1-75 UTSW 12 115,797,797 (GRCm39) nonsense probably null
R5307:Ighv1-75 UTSW 12 115,797,572 (GRCm39) missense probably damaging 0.99
R5617:Ighv1-75 UTSW 12 115,797,874 (GRCm39) missense probably benign 0.32
R5635:Ighv1-75 UTSW 12 115,797,829 (GRCm39) missense probably benign 0.05
R7658:Ighv1-75 UTSW 12 115,797,731 (GRCm39) missense possibly damaging 0.84
R7873:Ighv1-75 UTSW 12 115,797,988 (GRCm39) missense probably damaging 1.00
R8224:Ighv1-75 UTSW 12 115,797,859 (GRCm39) missense probably benign 0.44
R8237:Ighv1-75 UTSW 12 115,797,876 (GRCm39) critical splice acceptor site probably benign
R9709:Ighv1-75 UTSW 12 115,797,791 (GRCm39) missense possibly damaging 0.94
R9777:Ighv1-75 UTSW 12 115,797,655 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATATCTTCACTGAAGCCCCAG -3'
(R):5'- TGACCCAGGTGCCTTTTCAG -3'

Posted On 2017-07-14