Incidental Mutation 'R4484:Ighv5-6'
ID 331546
Institutional Source Beutler Lab
Gene Symbol Ighv5-6
Ensembl Gene ENSMUSG00000094951
Gene Name immunoglobulin heavy variable 5-6
Synonyms Gm16891
MMRRC Submission 041740-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.146) question?
Stock # R4484 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 113589128-113589421 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 113589208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 91 (R91*)
Ref Sequence ENSEMBL: ENSMUSP00000100227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103446]
AlphaFold A0A075B5Q0
Predicted Effect probably null
Transcript: ENSMUST00000103446
AA Change: R91*
SMART Domains Protein: ENSMUSP00000100227
Gene: ENSMUSG00000094951
AA Change: R91*

DomainStartEndE-ValueType
IGv 36 117 2.61e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195021
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 98% (46/47)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 T C 1: 58,301,730 (GRCm39) C1101R probably damaging Het
Atp8b5 T C 4: 43,357,016 (GRCm39) I588T probably damaging Het
Bahd1 C T 2: 118,746,887 (GRCm39) P169S probably damaging Het
Cd164l2 T A 4: 132,950,986 (GRCm39) V147E probably damaging Het
Celsr3 G A 9: 108,723,262 (GRCm39) probably null Het
Cr2 T C 1: 194,836,482 (GRCm39) T894A probably damaging Het
Crtc3 T C 7: 80,239,696 (GRCm39) D552G probably damaging Het
Cspg4b A T 13: 113,455,733 (GRCm39) N593I probably damaging Het
Cyp2c50 A G 19: 40,079,083 (GRCm39) E142G probably damaging Het
Dcstamp A G 15: 39,617,620 (GRCm39) I10V probably benign Het
Gm44501 T A 17: 40,887,507 (GRCm39) F8L unknown Het
Gpr179 T C 11: 97,226,537 (GRCm39) S1873G probably benign Het
Gprin2 C A 14: 33,916,754 (GRCm39) A339S probably benign Het
Gucy1b2 T A 14: 62,649,038 (GRCm39) I513F possibly damaging Het
Igtp G A 11: 58,097,824 (GRCm39) V332I possibly damaging Het
Itfg1 G A 8: 86,452,878 (GRCm39) P497S probably damaging Het
Junb T C 8: 85,704,517 (GRCm39) N181S possibly damaging Het
Lama3 T C 18: 12,614,145 (GRCm39) Y1305H probably benign Het
Lrrcc1 A T 3: 14,616,503 (GRCm39) N44I probably damaging Het
Med15 A T 16: 17,489,428 (GRCm39) probably benign Het
Mkks T C 2: 136,722,494 (GRCm39) E221G probably benign Het
Mtmr10 T C 7: 63,970,379 (GRCm39) V374A possibly damaging Het
Muc5b G T 7: 141,422,187 (GRCm39) C4441F possibly damaging Het
Nim1k G A 13: 120,173,710 (GRCm39) Q395* probably null Het
Nlrp6 A G 7: 140,501,694 (GRCm39) D87G probably damaging Het
Ntng1 C A 3: 110,051,124 (GRCm39) probably benign Het
Padi1 G T 4: 140,544,581 (GRCm39) probably benign Het
Rxrg T C 1: 167,452,596 (GRCm39) S133P probably benign Het
Snx19 T C 9: 30,339,192 (GRCm39) I110T probably benign Het
Strap T C 6: 137,726,334 (GRCm39) probably benign Het
Tasor2 T C 13: 3,631,831 (GRCm39) D890G probably benign Het
Tgtp2 A T 11: 48,950,179 (GRCm39) M131K probably damaging Het
Tppp2 T C 14: 52,156,868 (GRCm39) F82L probably damaging Het
Ttc39c A G 18: 12,863,126 (GRCm39) K397E possibly damaging Het
Txlnb T TTA 10: 17,714,745 (GRCm39) probably null Het
Usp36 T A 11: 118,176,621 (GRCm39) R66W probably damaging Het
Vmn1r30 A T 6: 58,412,118 (GRCm39) V238E probably damaging Het
Vmn1r6 A G 6: 56,980,174 (GRCm39) I279V probably benign Het
Vmn2r61 G A 7: 41,950,120 (GRCm39) D847N probably benign Het
Zfp622 G A 15: 25,987,137 (GRCm39) probably null Het
Zfp963 T C 8: 70,197,135 (GRCm39) I36V probably benign Het
Zfy2 A G Y: 2,107,351 (GRCm39) Y428H possibly damaging Het
Other mutations in Ighv5-6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02956:Ighv5-6 APN 12 113,589,523 (GRCm39) splice site probably benign
R1567:Ighv5-6 UTSW 12 113,589,528 (GRCm39) splice site probably benign
R3079:Ighv5-6 UTSW 12 113,589,237 (GRCm39) missense probably damaging 1.00
R3080:Ighv5-6 UTSW 12 113,589,237 (GRCm39) missense probably damaging 1.00
R5629:Ighv5-6 UTSW 12 113,589,242 (GRCm39) nonsense probably null
R7070:Ighv5-6 UTSW 12 113,589,429 (GRCm39) missense probably damaging 1.00
R9026:Ighv5-6 UTSW 12 113,589,247 (GRCm39) missense probably benign 0.12
Predicted Primers PCR Primer
(F):5'- AGATTGGGTCTAATTGTACAGGC -3'
(R):5'- ACTTAGTGAAGCCTGGAGGG -3'

Sequencing Primer
(F):5'- CTGTGAATCAGAACTCCATGTGC -3'
(R):5'- TGGAGGGTCCCTGAAACTCTC -3'
Posted On 2015-07-21