Incidental Mutation 'IGL02321:C87499'
ID288244
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C87499
Ensembl Gene ENSMUSG00000038330
Gene Nameexpressed sequence C87499
Synonyms
Accession Numbers

Ncbi RefSeq:NM_198663.3; MGI:2140706

Is this an essential gene? Probably non essential (E-score: 0.219) question?
Stock #IGL02321
Quality Score
Status
Chromosome4
Chromosomal Location88627320-88634411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88630103 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 22 (S22P)
Ref Sequence ENSEMBL: ENSMUSP00000102760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053304] [ENSMUST00000107142] [ENSMUST00000107143] [ENSMUST00000134155] [ENSMUST00000156062]
Predicted Effect probably benign
Transcript: ENSMUST00000053304
AA Change: S22P

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000056691
Gene: ENSMUSG00000038330
AA Change: S22P

DomainStartEndE-ValueType
SCOP:d1a4ya_ 223 425 4e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107142
AA Change: S22P

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000107143
AA Change: S22P

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000134155
Predicted Effect probably benign
Transcript: ENSMUST00000156062
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik A G 15: 8,216,572 E1476G probably benign Het
Acsf3 C T 8: 122,780,114 R49C possibly damaging Het
Alg2 T C 4: 47,474,249 Y13C probably benign Het
Apoa4 A G 9: 46,242,920 D273G probably damaging Het
Axl C T 7: 25,758,769 V854I probably damaging Het
BC117090 A G 16: 36,323,026 probably benign Het
Bicral A G 17: 46,811,947 S673P probably benign Het
Camkk2 A G 5: 122,764,127 S40P probably damaging Het
Ccdc39 A G 3: 33,816,958 probably benign Het
Ccdc87 A G 19: 4,841,031 E517G probably damaging Het
Cd22 A G 7: 30,869,883 S603P probably damaging Het
Cdk5rap3 A T 11: 96,913,465 C21S probably damaging Het
Chml G A 1: 175,692,334 P68L possibly damaging Het
Ephb3 T C 16: 21,214,389 V41A probably damaging Het
Gm4781 T A 10: 100,396,890 noncoding transcript Het
Hip1r A T 5: 123,999,890 I760F probably damaging Het
Hyal5 T C 6: 24,891,615 L476P probably benign Het
Isyna1 A G 8: 70,596,270 N333S probably damaging Het
Kcnmb1 A T 11: 33,970,091 probably benign Het
Mark4 T C 7: 19,426,389 T649A probably benign Het
Mgat1 T C 11: 49,261,709 F340L probably benign Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Mmaa T G 8: 79,274,130 Y233S probably damaging Het
Ntsr1 G T 2: 180,538,834 probably null Het
Olfr1394 T G 11: 49,160,775 Y254D probably damaging Het
Orm2 T C 4: 63,362,992 Y56H probably damaging Het
Pex26 C T 6: 121,193,509 probably benign Het
Pik3r4 C T 9: 105,644,478 A81V probably benign Het
Prr14l G T 5: 32,827,807 T1448K probably benign Het
Ralgapa2 A T 2: 146,412,816 Y799* probably null Het
Ryr1 A C 7: 29,078,696 L2132R probably damaging Het
Sec23b T C 2: 144,579,405 probably null Het
Sirt5 C T 13: 43,379,688 T164I probably damaging Het
Slc9c1 T C 16: 45,556,614 V429A probably benign Het
Spen T C 4: 141,517,130 D198G unknown Het
Syne2 A G 12: 75,918,999 N832D possibly damaging Het
Traf7 C A 17: 24,513,046 C193F possibly damaging Het
Vmn1r191 T A 13: 22,178,898 R229* probably null Het
Vps53 C T 11: 76,048,538 D680N possibly damaging Het
Wbp1l G T 19: 46,654,310 G234V probably benign Het
Wdfy3 A T 5: 101,922,609 S1098T probably damaging Het
Yod1 T A 1: 130,718,951 D188E probably damaging Het
Zbtb25 T C 12: 76,350,133 D105G probably damaging Het
Other mutations in C87499
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:C87499 APN 4 88629070 missense probably benign 0.43
IGL00229:C87499 APN 4 88629053 missense probably damaging 0.99
IGL01938:C87499 APN 4 88629363 missense possibly damaging 0.90
IGL02351:C87499 APN 4 88627890 missense probably damaging 1.00
IGL02358:C87499 APN 4 88627890 missense probably damaging 1.00
P0005:C87499 UTSW 4 88627950 missense probably damaging 1.00
R0521:C87499 UTSW 4 88629322 missense probably damaging 0.96
R0578:C87499 UTSW 4 88634139 missense probably benign 0.01
R0600:C87499 UTSW 4 88629299 missense probably damaging 1.00
R0750:C87499 UTSW 4 88627668 missense probably benign 0.01
R1483:C87499 UTSW 4 88628834 missense probably damaging 1.00
R1502:C87499 UTSW 4 88628032 missense probably benign 0.00
R1911:C87499 UTSW 4 88630072 missense possibly damaging 0.93
R2204:C87499 UTSW 4 88628118 missense probably damaging 0.99
R2507:C87499 UTSW 4 88629211 missense possibly damaging 0.89
R2512:C87499 UTSW 4 88628958 missense probably damaging 0.99
R4299:C87499 UTSW 4 88628182 missense probably damaging 0.97
R4498:C87499 UTSW 4 88628892 unclassified probably null
R4656:C87499 UTSW 4 88629965 missense probably benign 0.41
R4787:C87499 UTSW 4 88629213 nonsense probably null
R4823:C87499 UTSW 4 88629215 missense probably damaging 1.00
R4885:C87499 UTSW 4 88627982 missense possibly damaging 0.50
R4948:C87499 UTSW 4 88628948 missense probably damaging 1.00
R4967:C87499 UTSW 4 88629195 missense probably damaging 1.00
R5229:C87499 UTSW 4 88630135 missense possibly damaging 0.92
R5426:C87499 UTSW 4 88629410 intron probably benign
R5520:C87499 UTSW 4 88630040 missense probably damaging 1.00
R5574:C87499 UTSW 4 88628043 missense probably benign 0.10
R5596:C87499 UTSW 4 88630055 missense probably damaging 1.00
R6282:C87499 UTSW 4 88630054 missense probably damaging 1.00
R6366:C87499 UTSW 4 88628865 missense probably damaging 0.99
R6808:C87499 UTSW 4 88630054 missense probably damaging 1.00
R6866:C87499 UTSW 4 88627740 missense probably damaging 1.00
R7105:C87499 UTSW 4 88630102 missense probably damaging 0.98
R7117:C87499 UTSW 4 88628958 missense probably damaging 0.99
R7319:C87499 UTSW 4 88629947 missense probably benign 0.25
R7345:C87499 UTSW 4 88628179 missense possibly damaging 0.88
R7399:C87499 UTSW 4 88627965 missense probably benign 0.01
R7626:C87499 UTSW 4 88630042 missense probably damaging 1.00
Posted On2015-04-16