Incidental Mutation 'R7933:Ighv1-53'
ID643720
Institutional Source Beutler Lab
Gene Symbol Ighv1-53
Ensembl Gene ENSMUSG00000093894
Gene Nameimmunoglobulin heavy variable 1-53
SynonymsAB069917, V23-D-J-C mu
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.198) question?
Stock #R7933 (G1)
Quality Score999
Status Validated
Chromosome12
Chromosomal Location115158403-115158835 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 115158409 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 115 (C115*)
Ref Sequence ENSEMBL: ENSMUSP00000100304 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103523]
Predicted Effect probably null
Transcript: ENSMUST00000103523
AA Change: C115*
SMART Domains Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: C115*

DomainStartEndE-ValueType
IGv 36 117 3.52e-31 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.7%
Validation Efficiency 98% (42/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik A G 13: 59,743,751 L85P probably damaging Het
4933414I15Rik A G 11: 50,942,400 V125A unknown Het
Adam34 T A 8: 43,650,874 H578L probably damaging Het
Agap2 C A 10: 127,086,920 probably benign Het
Ago4 A T 4: 126,507,018 M678K probably benign Het
Ankrd27 A G 7: 35,601,649 probably benign Het
Atrn T C 2: 130,995,066 L1150P probably damaging Het
Bbs1 T A 19: 4,891,650 probably benign Het
Camta1 C T 4: 151,083,757 E279K probably damaging Het
Ccdc88c T C 12: 100,945,490 D695G possibly damaging Het
Col11a2 A T 17: 34,056,055 K400* probably null Het
Cpsf4 T A 5: 145,167,358 M1K probably null Het
Dnah12 A T 14: 26,766,115 Q992L probably benign Het
Dnajc7 T C 11: 100,596,212 Y145C probably damaging Het
Eml5 A T 12: 98,844,020 D892E possibly damaging Het
Fam193a A G 5: 34,466,195 K23E possibly damaging Het
Fam214b A T 4: 43,035,919 C271S probably benign Het
Filip1 T G 9: 79,820,047 K430T possibly damaging Het
Gm5089 T C 14: 122,435,991 D106G unknown Het
Hip1 A T 5: 135,460,456 N45K probably damaging Het
Hivep2 T C 10: 14,127,837 S60P probably damaging Het
Macf1 T C 4: 123,409,651 T353A probably benign Het
Mast3 A T 8: 70,786,635 V433E probably damaging Het
Mast4 A T 13: 102,772,563 M660K probably damaging Het
Nr2e1 T C 10: 42,563,383 Y380C probably damaging Het
Olfr1465 T A 19: 13,314,205 M27L probably benign Het
Olfr980 T C 9: 40,007,135 probably benign Het
Otog A G 7: 46,310,147 D720G probably damaging Het
Slc6a1 T A 6: 114,311,898 W473R probably damaging Het
Smpd3 A C 8: 106,255,622 C617G probably benign Het
Sprr3 T C 3: 92,457,208 I110V possibly damaging Het
Ston1 A G 17: 88,636,144 E326G probably benign Het
Tapbpl T G 6: 125,230,270 Q152P probably damaging Het
Tectb C T 19: 55,194,673 L319F possibly damaging Het
Tpp2 G A 1: 43,960,961 G413D probably damaging Het
Tpsg1 A G 17: 25,373,204 H84R probably damaging Het
Usp24 A G 4: 106,428,489 N2437S probably benign Het
Usp32 T C 11: 85,007,059 Q1152R probably damaging Het
Vmn2r6 T C 3: 64,559,803 T92A probably benign Het
Xpo7 A G 14: 70,707,348 V35A probably benign Het
Zan T A 5: 137,463,579 T1113S unknown Het
Zfp169 A G 13: 48,490,481 V390A unknown Het
Other mutations in Ighv1-53
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01815:Ighv1-53 APN 12 115158597 missense probably benign 0.01
IGL02326:Ighv1-53 APN 12 115158615 missense probably benign 0.21
BB010:Ighv1-53 UTSW 12 115158409 nonsense probably null
BB020:Ighv1-53 UTSW 12 115158409 nonsense probably null
R3404:Ighv1-53 UTSW 12 115158438 missense possibly damaging 0.81
R4020:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R4169:Ighv1-53 UTSW 12 115158546 missense possibly damaging 0.63
R4241:Ighv1-53 UTSW 12 115158822 missense probably benign 0.00
R5231:Ighv1-53 UTSW 12 115158605 missense probably benign 0.09
R7139:Ighv1-53 UTSW 12 115158821 nonsense probably null
R7220:Ighv1-53 UTSW 12 115158515 missense probably benign 0.00
R7293:Ighv1-53 UTSW 12 115158821 nonsense probably null
R7934:Ighv1-53 UTSW 12 115158616 nonsense probably null
R8846:Ighv1-53 UTSW 12 115158545 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGATGTCCATTTGCAAAGTGAAC -3'
(R):5'- GCTACACCTTCACCAGCTACTG -3'

Sequencing Primer
(F):5'- GTCCATTTGCAAAGTGAACAAAAGC -3'
(R):5'- AGCTACTGGATGCACTGGG -3'
Posted On2020-08-07