Incidental Mutation 'R5697:Ighv1-59'
ID 450753
Institutional Source Beutler Lab
Gene Symbol Ighv1-59
Ensembl Gene ENSMUSG00000095197
Gene Name immunoglobulin heavy variable V1-59
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.159) question?
Stock # R5697 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 115298702-115299134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 115298968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 29 (E29K)
Ref Sequence ENSEMBL: ENSMUSP00000141949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103530] [ENSMUST00000195359]
AlphaFold A0A075B5X0
Predicted Effect probably benign
Transcript: ENSMUST00000103530
AA Change: E28K

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100311
Gene: ENSMUSG00000095197
AA Change: E28K

DomainStartEndE-ValueType
IGv 35 116 1.01e-31 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000195359
AA Change: E29K

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141949
Gene: ENSMUSG00000095197
AA Change: E29K

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4e-34 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,713,630 (GRCm39) F550S possibly damaging Het
Adam34l A T 8: 44,079,616 (GRCm39) W203R probably damaging Het
Adamts15 G A 9: 30,823,090 (GRCm39) T326I probably damaging Het
Akap9 T C 5: 4,010,170 (GRCm39) L309P possibly damaging Het
Arfgef1 T C 1: 10,231,063 (GRCm39) M1149V probably benign Het
Atp6v0a4 C T 6: 38,027,442 (GRCm39) probably null Het
Capn9 C T 8: 125,315,810 (GRCm39) H39Y unknown Het
Ccn2 A G 10: 24,473,354 (GRCm39) T298A probably benign Het
Celsr2 G A 3: 108,311,237 (GRCm39) Q1425* probably null Het
Chd6 A G 2: 160,859,971 (GRCm39) L610P probably damaging Het
Clasp2 A T 9: 113,689,190 (GRCm39) T424S probably benign Het
Clec5a T C 6: 40,559,204 (GRCm39) D35G probably benign Het
Dnhd1 T G 7: 105,323,395 (GRCm39) V599G probably damaging Het
Enpep T C 3: 129,102,772 (GRCm39) T395A probably benign Het
Evc2 G T 5: 37,527,952 (GRCm39) L320F probably damaging Het
H2bc22 C T 13: 21,971,961 (GRCm39) probably null Het
Hivep3 C T 4: 119,954,152 (GRCm39) H823Y possibly damaging Het
Itsn1 A G 16: 91,598,477 (GRCm39) I137V possibly damaging Het
Kntc1 A G 5: 123,903,070 (GRCm39) T316A probably benign Het
Map4k5 T C 12: 69,877,210 (GRCm39) T312A probably benign Het
Megf6 G T 4: 154,342,686 (GRCm39) A642S probably null Het
Mrgprb3 G T 7: 48,292,673 (GRCm39) L293M probably damaging Het
Nes A G 3: 87,885,155 (GRCm39) E1138G probably damaging Het
Niban1 T C 1: 151,576,012 (GRCm39) F379L probably damaging Het
Pias2 A G 18: 77,220,884 (GRCm39) K373R probably damaging Het
Prss23 A G 7: 89,159,190 (GRCm39) F293S probably damaging Het
Pzp A G 6: 128,502,152 (GRCm39) Y66H probably benign Het
Rnf213 A G 11: 119,374,720 (GRCm39) R5061G possibly damaging Het
Sergef A G 7: 46,288,683 (GRCm39) probably benign Het
Slc7a1 A G 5: 148,270,792 (GRCm39) V558A probably benign Het
Smc2 A G 4: 52,459,045 (GRCm39) E480G probably benign Het
Smyd3 T G 1: 179,239,247 (GRCm39) K111T probably damaging Het
Tchh A T 3: 93,352,350 (GRCm39) R597* probably null Het
Ttc6 G T 12: 57,724,000 (GRCm39) V1043L probably benign Het
Vmn1r10 T G 6: 57,090,474 (GRCm39) L22R probably damaging Het
Vmn2r56 T C 7: 12,449,917 (GRCm39) D107G probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Zfp365 A G 10: 67,745,470 (GRCm39) Y103H probably benign Het
Zfp39 G T 11: 58,780,661 (GRCm39) H700Q probably benign Het
Zfp982 A T 4: 147,597,046 (GRCm39) E134D probably benign Het
Other mutations in Ighv1-59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Ighv1-59 APN 12 115,298,992 (GRCm39) missense possibly damaging 0.65
R6193:Ighv1-59 UTSW 12 115,298,786 (GRCm39) missense probably damaging 1.00
R6512:Ighv1-59 UTSW 12 115,299,003 (GRCm39) missense probably damaging 0.98
R8300:Ighv1-59 UTSW 12 115,298,987 (GRCm39) missense probably damaging 0.96
R9260:Ighv1-59 UTSW 12 115,298,737 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- GCTGGAGGATGTGTCTACAG -3'
(R):5'- CTCTACAGTTACTGAGCACACAG -3'

Sequencing Primer
(F):5'- ACAGTCAATGTGGCCTTGC -3'
(R):5'- GTTACTGAGCACACAGGACCTCG -3'
Posted On 2017-01-03