Incidental Mutation 'IGL01368:Ighv5-9-1'
ID76006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv5-9-1
Ensembl Gene ENSMUSG00000095210
Gene Nameimmunoglobulin heavy variable 5-9-1
SynonymsGm16886
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL01368
Quality Score
Status
Chromosome12
Chromosomal Location113736111-113736630 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 113736390 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 34 (E34G)
Ref Sequence ENSEMBL: ENSMUSP00000141243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103452] [ENSMUST00000192264]
Predicted Effect probably damaging
Transcript: ENSMUST00000103452
AA Change: E24G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000100233
Gene: ENSMUSG00000095210
AA Change: E24G

DomainStartEndE-ValueType
IGv 35 116 8.34e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000192264
AA Change: E34G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141243
Gene: ENSMUSG00000095210
AA Change: E34G

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IGv 45 126 3.3e-35 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,051,334 D93E probably damaging Het
Adam22 T C 5: 8,127,411 Y566C probably damaging Het
Atp8b3 G A 10: 80,534,229 probably benign Het
Babam1 T A 8: 71,398,406 D104E probably damaging Het
Bcl2a1a T A 9: 88,957,447 W133R probably damaging Het
Ckm C T 7: 19,416,787 Q184* probably null Het
Clk4 T A 11: 51,281,172 Y246* probably null Het
Cyp3a57 T C 5: 145,369,068 S121P probably damaging Het
Gm5039 C T 12: 88,321,088 D132N unknown Het
Gm5771 A G 6: 41,396,686 D161G possibly damaging Het
Gm8011 T C 14: 42,465,874 probably benign Het
Gpr153 T C 4: 152,282,994 F434S probably benign Het
Gpr158 G T 2: 21,827,098 W1003L probably damaging Het
Igkv16-104 G T 6: 68,425,610 R2S possibly damaging Het
Map3k3 T C 11: 106,150,389 F395L probably benign Het
Myof T A 19: 37,936,457 T1161S probably damaging Het
Nlrp9a T C 7: 26,557,874 S217P probably damaging Het
Nol9 T A 4: 152,058,391 N687K probably benign Het
Olfr287 T C 15: 98,207,500 I295V probably damaging Het
Olfr697 T C 7: 106,741,622 E104G probably benign Het
Olfr748 T C 14: 50,710,993 V221A possibly damaging Het
Olfr952 A T 9: 39,426,180 V297D probably damaging Het
Rrh T C 3: 129,808,969 D229G probably benign Het
Sclt1 T C 3: 41,711,175 T153A probably damaging Het
Slc41a1 G A 1: 131,839,124 V127I probably damaging Het
Smarca2 C T 19: 26,774,294 S214L possibly damaging Het
Tmem63a T C 1: 180,970,232 V616A possibly damaging Het
Ubr1 A G 2: 120,941,131 probably benign Het
Vmn1r228 A G 17: 20,776,512 L248P probably benign Het
Zdhhc16 T A 19: 41,941,506 probably null Het
Other mutations in Ighv5-9-1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4921:Ighv5-9-1 UTSW 12 113736294 missense possibly damaging 0.61
R5161:Ighv5-9-1 UTSW 12 113736157 missense possibly damaging 0.70
R5559:Ighv5-9-1 UTSW 12 113736125 nonsense probably null
R5678:Ighv5-9-1 UTSW 12 113736587 missense possibly damaging 0.72
R7529:Ighv5-9-1 UTSW 12 113736334 missense possibly damaging 0.91
R7618:Ighv5-9-1 UTSW 12 113736199 missense probably damaging 0.99
R7791:Ighv5-9-1 UTSW 12 113736545 missense probably damaging 0.99
Z1088:Ighv5-9-1 UTSW 12 113736120 missense probably damaging 1.00
Posted On2013-10-07