Incidental Mutation 'IGL03174:C87977'
ID 411935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C87977
Ensembl Gene ENSMUSG00000046262
Gene Name expressed sequence C87977
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL03174
Quality Score
Status
Chromosome 4
Chromosomal Location 144206775-144213318 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144208430 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 247 (S247N)
Ref Sequence ENSEMBL: ENSMUSP00000101383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105753] [ENSMUST00000105754] [ENSMUST00000105755] [ENSMUST00000105757] [ENSMUST00000146836] [ENSMUST00000147855]
AlphaFold A2A958
Predicted Effect probably benign
Transcript: ENSMUST00000105753
AA Change: S247N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000105754
Predicted Effect probably benign
Transcript: ENSMUST00000105755
AA Change: S77N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101381
Gene: ENSMUSG00000046262
AA Change: S77N

DomainStartEndE-ValueType
SCOP:d1a4ya_ 52 250 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105757
AA Change: S247N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101383
Gene: ENSMUSG00000046262
AA Change: S247N

DomainStartEndE-ValueType
SCOP:d1a4ya_ 222 420 1e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132946
Predicted Effect probably benign
Transcript: ENSMUST00000146836
Predicted Effect probably benign
Transcript: ENSMUST00000147855
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,970,975 Y67H probably benign Het
Abcb1b T C 5: 8,827,752 L703P probably benign Het
Abi3bp A G 16: 56,614,747 K602R possibly damaging Het
Ank2 T C 3: 126,940,095 D622G probably damaging Het
Bpifb1 T A 2: 154,213,049 L287Q probably damaging Het
Brd8 T C 18: 34,604,909 E774G probably damaging Het
Cnot1 A G 8: 95,761,355 S558P probably damaging Het
Col15a1 T C 4: 47,282,666 I781T probably damaging Het
Cyp2j7 T A 4: 96,195,370 R448* probably null Het
Dgkb A T 12: 38,216,054 I511F possibly damaging Het
Fam221b T C 4: 43,666,542 E23G probably benign Het
Gm17067 C A 7: 42,710,676 probably null Het
Grin3a T A 4: 49,771,107 D555V probably damaging Het
Hid1 T C 11: 115,360,389 Y107C probably damaging Het
Kcnd2 A G 6: 21,216,516 D73G possibly damaging Het
Kit A G 5: 75,607,113 D52G probably benign Het
Llgl1 G T 11: 60,706,210 R189L probably benign Het
Lrp2 T A 2: 69,466,265 D3315V probably damaging Het
Map3k8 A G 18: 4,349,247 S24P probably damaging Het
Nckap5 A G 1: 125,981,646 L1616P probably damaging Het
Nrcam A G 12: 44,576,006 probably benign Het
Olfr1475 A G 19: 13,480,069 M43T probably benign Het
Olfr715b A T 7: 107,106,270 M197K probably benign Het
Polr1a G A 6: 71,977,347 R1595H possibly damaging Het
Rusc1 T C 3: 89,091,770 D235G probably damaging Het
Serpinb6e A T 13: 33,836,480 I215N probably damaging Het
Sfrp4 A T 13: 19,632,207 Q137L probably benign Het
Vmn2r2 C T 3: 64,117,123 W679* probably null Het
Vps8 T A 16: 21,466,463 L398H probably damaging Het
Zfp709 A T 8: 71,889,026 T99S probably benign Het
Other mutations in C87977
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:C87977 APN 4 144208475 missense possibly damaging 0.58
IGL02950:C87977 APN 4 144212961 missense probably benign 0.06
IGL03178:C87977 APN 4 144208251 critical splice donor site probably null
PIT4812001:C87977 UTSW 4 144209516 missense probably benign
R0622:C87977 UTSW 4 144213013 unclassified probably benign
R0634:C87977 UTSW 4 144209340 critical splice donor site probably null
R1127:C87977 UTSW 4 144207124 missense probably damaging 1.00
R1341:C87977 UTSW 4 144207559 missense probably damaging 1.00
R1697:C87977 UTSW 4 144208592 missense probably damaging 1.00
R1827:C87977 UTSW 4 144209610 missense probably damaging 0.99
R1857:C87977 UTSW 4 144208521 missense possibly damaging 0.74
R2859:C87977 UTSW 4 144209622 missense probably benign 0.11
R4063:C87977 UTSW 4 144208695 missense possibly damaging 0.87
R4114:C87977 UTSW 4 144209603 missense probably damaging 1.00
R4130:C87977 UTSW 4 144208809 missense probably damaging 0.99
R4255:C87977 UTSW 4 144207484 missense possibly damaging 0.68
R4704:C87977 UTSW 4 144208592 missense probably damaging 1.00
R4840:C87977 UTSW 4 144208574 missense probably damaging 0.98
R5267:C87977 UTSW 4 144213005 unclassified probably benign
R5670:C87977 UTSW 4 144209622 missense probably benign 0.11
R6149:C87977 UTSW 4 144207413 missense probably damaging 0.98
R6508:C87977 UTSW 4 144207601 nonsense probably null
R6528:C87977 UTSW 4 144208811 missense probably damaging 0.99
R7252:C87977 UTSW 4 144212940 missense possibly damaging 0.95
R7564:C87977 UTSW 4 144212955 missense probably damaging 1.00
R7704:C87977 UTSW 4 144208521 missense possibly damaging 0.74
R8737:C87977 UTSW 4 144208622 missense probably damaging 1.00
Z1176:C87977 UTSW 4 144207461 missense probably benign 0.03
Posted On 2016-08-02