Incidental Mutation 'IGL01738:Ighv1-69'
ID105750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ighv1-69
Ensembl Gene ENSMUSG00000094502
Gene Nameimmunoglobulin heavy variable 1-69
SynonymsGm16708
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.817) question?
Stock #IGL01738
Quality Score
Status
Chromosome12
Chromosomal Location115623203-115623595 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115623441 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 24 (Q24R)
Ref Sequence ENSEMBL: ENSMUSP00000143287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103539] [ENSMUST00000199933]
Predicted Effect possibly damaging
Transcript: ENSMUST00000103539
AA Change: Q23R

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000100320
Gene: ENSMUSG00000094502
AA Change: Q23R

DomainStartEndE-ValueType
IGv 35 116 1.23e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000199933
AA Change: Q24R

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143287
Gene: ENSMUSG00000094502
AA Change: Q24R

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IGv 36 117 4.9e-33 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,710,036 D288V probably damaging Het
Agtr1a G A 13: 30,381,038 V29I probably benign Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Cyp3a44 A G 5: 145,794,935 S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Ell T A 8: 70,581,681 probably null Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Top3b G A 16: 16,880,604 V104M probably benign Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in Ighv1-69
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0567:Ighv1-69 UTSW 12 115623549 critical splice donor site probably benign
R4755:Ighv1-69 UTSW 12 115623558 missense probably benign 0.01
R7022:Ighv1-69 UTSW 12 115623214 missense probably benign 0.04
R7042:Ighv1-69 UTSW 12 115623289 missense probably benign 0.00
R7675:Ighv1-69 UTSW 12 115623589 missense probably damaging 1.00
Z1088:Ighv1-69 UTSW 12 115623253 missense probably benign
Z1176:Ighv1-69 UTSW 12 115623253 missense probably benign
Z1177:Ighv1-69 UTSW 12 115623253 missense probably benign
Posted On2014-01-21