Incidental Mutation 'R8396:Ighv5-8'
ID 647622
Institutional Source Beutler Lab
Gene Symbol Ighv5-8
Ensembl Gene ENSMUSG00000103262
Gene Name immunoglobulin heavy variable V5-8
Synonyms Gm17309
MMRRC Submission 067812-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8396 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 113618587-113618865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 113618813 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 76 (A76V)
Ref Sequence ENSEMBL: ENSMUSP00000128354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103447] [ENSMUST00000166255]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103447
SMART Domains Protein: ENSMUSP00000100228
Gene: ENSMUSG00000095866

DomainStartEndE-ValueType
IGv 36 116 1.19e-28 SMART
Predicted Effect unknown
Transcript: ENSMUST00000166255
AA Change: A76V
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef3 A G 10: 18,528,280 (GRCm39) probably null Het
Arid1a T C 4: 133,479,973 (GRCm39) Y317C probably damaging Het
Asxl2 A G 12: 3,552,220 (GRCm39) T1321A probably benign Het
Bckdk A G 7: 127,504,931 (GRCm39) Y129C probably damaging Het
Birc2 A G 9: 7,834,301 (GRCm39) V60A probably benign Het
Bmp8a T C 4: 123,218,952 (GRCm39) H152R probably benign Het
C3 T C 17: 57,528,029 (GRCm39) H730R probably benign Het
Ccser1 T A 6: 61,289,088 (GRCm39) V417E probably benign Het
Cfap58 T A 19: 48,017,540 (GRCm39) M800K probably damaging Het
Clip1 A G 5: 123,780,627 (GRCm39) L352P probably damaging Het
Cr2 A G 1: 194,840,376 (GRCm39) L522P probably damaging Het
Ctcf T A 8: 106,393,379 (GRCm39) H347Q possibly damaging Het
Gm13271 A T 4: 88,673,318 (GRCm39) M72L probably benign Het
Gpat4 GTGTT GT 8: 23,669,498 (GRCm39) probably benign Het
Irx5 G A 8: 93,086,962 (GRCm39) G298D probably benign Het
Klf5 T C 14: 99,539,670 (GRCm39) I361T possibly damaging Het
Lsm11 G A 11: 45,835,591 (GRCm39) A50V probably benign Het
Map1b T C 13: 99,570,621 (GRCm39) K700R unknown Het
Muc5b A T 7: 141,405,552 (GRCm39) T954S unknown Het
Nhsl1 A G 10: 18,400,910 (GRCm39) N678S probably benign Het
Npsr1 T A 9: 24,221,377 (GRCm39) I277N possibly damaging Het
Ntsr2 A G 12: 16,706,821 (GRCm39) H283R probably damaging Het
Obscn A T 11: 58,893,829 (GRCm39) I6746N probably benign Het
Obsl1 T C 1: 75,480,350 (GRCm39) T425A probably benign Het
Pag1 T A 3: 9,759,112 (GRCm39) E335D probably benign Het
Parp3 T A 9: 106,351,447 (GRCm39) Q223L probably benign Het
Pogz T C 3: 94,786,061 (GRCm39) V883A probably benign Het
Rsbn1l A T 5: 21,132,665 (GRCm39) M198K probably benign Het
Sh3bgr A G 16: 96,007,680 (GRCm39) probably null Het
Shc4 A G 2: 125,471,617 (GRCm39) I600T probably damaging Het
Slc26a1 T C 5: 108,821,715 (GRCm39) H74R probably benign Het
Slc7a11 A C 3: 50,338,578 (GRCm39) I277S possibly damaging Het
Tep1 G T 14: 51,074,529 (GRCm39) T1832N probably benign Het
Terf2 A G 8: 107,809,613 (GRCm39) probably null Het
Tle4 G A 19: 14,432,323 (GRCm39) Q458* probably null Het
Trim34b A T 7: 103,979,083 (GRCm39) D110V probably damaging Het
Usp9y A T Y: 1,308,034 (GRCm39) N2267K possibly damaging Het
Vmn2r50 G A 7: 9,781,639 (GRCm39) Q369* probably null Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp229 T C 17: 21,965,077 (GRCm39) S436P probably damaging Het
Other mutations in Ighv5-8
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4675:Ighv5-8 UTSW 12 113,618,777 (GRCm39) missense probably benign 0.29
R4763:Ighv5-8 UTSW 12 113,617,161 (GRCm39) missense probably damaging 1.00
R6258:Ighv5-8 UTSW 12 113,618,611 (GRCm39) missense possibly damaging 0.66
R7253:Ighv5-8 UTSW 12 113,618,728 (GRCm39) missense probably benign 0.00
R7397:Ighv5-8 UTSW 12 113,618,565 (GRCm39) frame shift probably null
R7949:Ighv5-8 UTSW 12 113,618,563 (GRCm39) frame shift probably null
R8394:Ighv5-8 UTSW 12 113,618,813 (GRCm39) missense unknown
R8395:Ighv5-8 UTSW 12 113,618,813 (GRCm39) missense unknown
R8678:Ighv5-8 UTSW 12 113,618,583 (GRCm39) small deletion probably benign
R9076:Ighv5-8 UTSW 12 113,618,583 (GRCm39) small deletion probably benign
R9173:Ighv5-8 UTSW 12 113,618,681 (GRCm39) missense probably benign 0.16
R9269:Ighv5-8 UTSW 12 113,618,565 (GRCm39) frame shift probably null
R9362:Ighv5-8 UTSW 12 113,616,940 (GRCm39) missense probably benign 0.03
Z1188:Ighv5-8 UTSW 12 113,618,569 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCATCTCTGGAGACGGTGAATC -3'
(R):5'- CATGGACTTTGAGCTCAGCTTTG -3'

Sequencing Primer
(F):5'- CGGTGAATCGGCCCTTCATTG -3'
(R):5'- TTCATAGAAATAAGATCCTGCCTGTC -3'
Posted On 2020-09-02