Incidental Mutation 'R9473:Ighv7-4'
ID 715588
Institutional Source Beutler Lab
Gene Symbol Ighv7-4
Ensembl Gene ENSMUSG00000076668
Gene Name immunoglobulin heavy variable 7-4
Synonyms Gm16839
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R9473 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 114186408-114186874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 114186722 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 17 (I17V)
Ref Sequence ENSEMBL: ENSMUSP00000142041 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103477] [ENSMUST00000192499]
AlphaFold A0A075B5S5
Predicted Effect probably benign
Transcript: ENSMUST00000103477
AA Change: I16V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100258
Gene: ENSMUSG00000076668
AA Change: I16V

DomainStartEndE-ValueType
IGv 35 118 1.18e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000192499
AA Change: I17V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142041
Gene: ENSMUSG00000076668
AA Change: I17V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 119 4.9e-35 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,980,912 (GRCm39) P107L probably benign Het
Abcc10 T C 17: 46,617,609 (GRCm39) N1142S probably benign Het
Accsl T C 2: 93,686,092 (GRCm39) H575R probably benign Het
Adgra2 T A 8: 27,610,943 (GRCm39) L964Q probably damaging Het
Akap5 T C 12: 76,376,632 (GRCm39) L688P probably damaging Het
Anapc10 A G 8: 80,501,673 (GRCm39) N147S probably damaging Het
Atm C T 9: 53,410,272 (GRCm39) E1059K probably benign Het
Bltp2 G A 11: 78,174,983 (GRCm39) R1706H probably damaging Het
Bmf A C 2: 118,363,104 (GRCm39) F251V probably benign Het
Capn3 G T 2: 120,326,535 (GRCm39) E576* probably null Het
Capns2 T C 8: 93,628,854 (GRCm39) *248R probably null Het
Ceacam13 G T 7: 17,747,281 (GRCm39) V245L probably benign Het
Clcn3 T C 8: 61,407,651 (GRCm39) D2G probably benign Het
Dcstamp G A 15: 39,617,972 (GRCm39) C127Y probably damaging Het
Dnmt3l C T 10: 77,886,022 (GRCm39) Q36* probably null Het
Dpys A G 15: 39,687,583 (GRCm39) I405T possibly damaging Het
Duoxa1 A G 2: 122,134,326 (GRCm39) I309T probably benign Het
Eif2b1 G A 5: 124,712,677 (GRCm39) Q156* probably null Het
Eif3l T A 15: 78,970,704 (GRCm39) M326K probably damaging Het
Fbxl13 T C 5: 21,790,243 (GRCm39) N267D possibly damaging Het
Fip1l1 C T 5: 74,745,719 (GRCm39) T372I probably damaging Het
Galt A G 4: 41,757,575 (GRCm39) N249S probably benign Het
Gm17324 G T 9: 78,355,839 (GRCm39) R47S unknown Het
Gm45871 T G 18: 90,609,093 (GRCm39) D110E probably benign Het
Gtf2ird1 T A 5: 134,433,534 (GRCm39) T298S probably benign Het
Krt7 C T 15: 101,318,409 (GRCm39) R299W probably damaging Het
Macc1 A G 12: 119,297,990 (GRCm39) probably benign Het
Mturn G A 6: 54,666,009 (GRCm39) E61K probably benign Het
Nol11 T C 11: 107,075,581 (GRCm39) D149G probably null Het
Nr4a3 A T 4: 48,052,143 (GRCm39) N299I probably damaging Het
Pip5k1b A T 19: 24,335,590 (GRCm39) I351N probably damaging Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Pramel11 T G 4: 143,620,815 (GRCm39) T468P probably benign Het
Rdh19 A G 10: 127,696,177 (GRCm39) T310A probably benign Het
Rflnb T A 11: 75,913,064 (GRCm39) Y108F probably damaging Het
Rfx1 A T 8: 84,819,903 (GRCm39) I713F probably damaging Het
Saxo5 G A 8: 3,529,232 (GRCm39) C239Y probably benign Het
Scgn T C 13: 24,143,731 (GRCm39) probably null Het
Serpina1d T C 12: 103,729,939 (GRCm39) *414W probably null Het
Slc18a3 T C 14: 32,185,913 (GRCm39) I157V probably benign Het
Steap1 T C 5: 5,790,378 (GRCm39) Y190C probably damaging Het
Svep1 A G 4: 58,064,243 (GRCm39) S3247P probably benign Het
Syne1 T C 10: 5,198,258 (GRCm39) I3778V probably benign Het
Tas2r114 T C 6: 131,666,104 (GRCm39) D308G probably benign Het
Tpm2 A T 4: 43,514,813 (GRCm39) L274* probably null Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ttn A G 2: 76,547,338 (GRCm39) V32236A probably damaging Het
Ubr5 A G 15: 38,002,617 (GRCm39) V1472A Het
Ugt2b1 A T 5: 87,065,539 (GRCm39) V500D possibly damaging Het
Vpreb1b G A 16: 17,798,565 (GRCm39) C17Y probably benign Het
Wscd1 A G 11: 71,679,644 (GRCm39) N506D probably damaging Het
Other mutations in Ighv7-4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Ighv7-4 APN 12 114,186,653 (GRCm39) missense probably damaging 1.00
G1patch:Ighv7-4 UTSW 12 114,186,489 (GRCm39) missense probably damaging 1.00
R4172:Ighv7-4 UTSW 12 114,186,635 (GRCm39) missense probably damaging 1.00
R4801:Ighv7-4 UTSW 12 114,186,899 (GRCm39) start gained probably benign
R4802:Ighv7-4 UTSW 12 114,186,899 (GRCm39) start gained probably benign
R6193:Ighv7-4 UTSW 12 114,186,445 (GRCm39) missense possibly damaging 0.82
R6540:Ighv7-4 UTSW 12 114,186,470 (GRCm39) missense possibly damaging 0.49
R6725:Ighv7-4 UTSW 12 114,186,489 (GRCm39) missense probably damaging 1.00
R9488:Ighv7-4 UTSW 12 114,186,619 (GRCm39) missense probably damaging 1.00
Z1088:Ighv7-4 UTSW 12 114,186,517 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTGAACCGACCCTTAACAGATG -3'
(R):5'- ATCAGCCTTGAACACAGACCTG -3'

Sequencing Primer
(F):5'- CCCTTAACAGATGCAGTATACTCTG -3'
(R):5'- CAGACCTGTCACCATGAAGTTGTG -3'
Posted On 2022-06-15