Incidental Mutation 'IGL01314:C87436'
ID 73783
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C87436
Ensembl Gene ENSMUSG00000046679
Gene Name expressed sequence C87436
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.319) question?
Stock # IGL01314
Quality Score
Status
Chromosome 6
Chromosomal Location 86415356-86450482 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86434837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 395 (F395S)
Ref Sequence ENSEMBL: ENSMUSP00000109330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050497] [ENSMUST00000113698] [ENSMUST00000113700] [ENSMUST00000133753] [ENSMUST00000141972]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050497
AA Change: F395S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057461
Gene: ENSMUSG00000046679
AA Change: F395S

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1.1e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113698
AA Change: F385S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109328
Gene: ENSMUSG00000046679
AA Change: F385S

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 1e-22 PFAM
low complexity region 278 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113700
AA Change: F395S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109330
Gene: ENSMUSG00000046679
AA Change: F395S

DomainStartEndE-ValueType
Pfam:zf-tcix 16 57 1.3e-22 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133753
SMART Domains Protein: ENSMUSP00000121520
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141972
SMART Domains Protein: ENSMUSP00000115916
Gene: ENSMUSG00000046679

DomainStartEndE-ValueType
Pfam:zf-tcix 15 58 6.2e-23 PFAM
low complexity region 288 300 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,071,939 (GRCm39) A161V probably benign Het
Bptf A T 11: 106,945,679 (GRCm39) V2520E probably damaging Het
Capn1 T C 19: 6,040,014 (GRCm39) probably benign Het
Ceacam5 T A 7: 17,481,181 (GRCm39) Y309* probably null Het
Clasp2 A G 9: 113,735,195 (GRCm39) D1011G possibly damaging Het
Csmd3 A G 15: 47,713,151 (GRCm39) Y1608H probably damaging Het
Dcaf1 T C 9: 106,711,390 (GRCm39) I77T probably benign Het
Dcdc2a T C 13: 25,286,587 (GRCm39) L170P probably damaging Het
Ddx28 A G 8: 106,737,212 (GRCm39) F282S probably damaging Het
Egf A G 3: 129,479,909 (GRCm39) I497T probably benign Het
Emsy A G 7: 98,242,662 (GRCm39) V1159A probably benign Het
Hk3 C A 13: 55,154,876 (GRCm39) probably benign Het
Htt A G 5: 35,036,200 (GRCm39) D2049G probably benign Het
Inpp5d C A 1: 87,611,472 (GRCm39) S45* probably null Het
Irf8 A G 8: 121,480,119 (GRCm39) Y119C probably damaging Het
Klk1b4 T C 7: 43,860,600 (GRCm39) probably null Het
Macf1 A G 4: 123,380,513 (GRCm39) S1273P probably damaging Het
Man2c1 A T 9: 57,049,103 (GRCm39) H867L probably benign Het
Mgat4e T C 1: 134,469,187 (GRCm39) T286A probably damaging Het
Mug2 T C 6: 122,058,238 (GRCm39) F1267L possibly damaging Het
Necab1 T A 4: 15,005,079 (GRCm39) E128D probably damaging Het
Or10ak9 G A 4: 118,726,328 (GRCm39) V117I probably benign Het
Pds5a A G 5: 65,772,637 (GRCm39) V1322A probably benign Het
Poc1b C T 10: 98,965,503 (GRCm39) T144I probably damaging Het
Prcc T A 3: 87,777,387 (GRCm39) N196Y probably damaging Het
Psma5 G A 3: 108,187,111 (GRCm39) V237M possibly damaging Het
Rap1gds1 A G 3: 138,756,322 (GRCm39) L11P probably damaging Het
Rapgef3 A G 15: 97,646,104 (GRCm39) F132S probably damaging Het
Rgs13 T G 1: 144,047,179 (GRCm39) D14A probably benign Het
Rlig1 A C 10: 100,409,473 (GRCm39) D313E probably damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tcerg1 C A 18: 42,706,374 (GRCm39) A1017D probably damaging Het
Tent5c T C 3: 100,380,490 (GRCm39) K89E probably benign Het
Tmem79 T C 3: 88,239,883 (GRCm39) I276V possibly damaging Het
Tmem94 C A 11: 115,680,835 (GRCm39) H113N probably damaging Het
Vil1 G A 1: 74,467,397 (GRCm39) D715N probably damaging Het
Vmn2r96 A G 17: 18,803,226 (GRCm39) T187A probably benign Het
Zfhx4 T A 3: 5,478,154 (GRCm39) S3590T probably damaging Het
Other mutations in C87436
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:C87436 APN 6 86,423,201 (GRCm39) missense probably damaging 1.00
IGL02039:C87436 APN 6 86,430,677 (GRCm39) missense probably benign 0.40
IGL02798:C87436 APN 6 86,423,184 (GRCm39) missense probably benign 0.01
R0008:C87436 UTSW 6 86,423,265 (GRCm39) unclassified probably benign
R0128:C87436 UTSW 6 86,446,809 (GRCm39) missense probably damaging 1.00
R0445:C87436 UTSW 6 86,426,832 (GRCm39) missense possibly damaging 0.77
R0970:C87436 UTSW 6 86,424,310 (GRCm39) missense probably damaging 0.99
R1125:C87436 UTSW 6 86,424,344 (GRCm39) missense probably benign 0.00
R1310:C87436 UTSW 6 86,422,432 (GRCm39) missense possibly damaging 0.78
R1640:C87436 UTSW 6 86,423,233 (GRCm39) missense probably damaging 0.99
R1764:C87436 UTSW 6 86,430,594 (GRCm39) missense possibly damaging 0.92
R2213:C87436 UTSW 6 86,422,455 (GRCm39) missense probably benign 0.04
R2275:C87436 UTSW 6 86,422,582 (GRCm39) missense probably damaging 1.00
R3947:C87436 UTSW 6 86,423,168 (GRCm39) missense probably damaging 1.00
R5416:C87436 UTSW 6 86,442,832 (GRCm39) missense probably damaging 1.00
R5604:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R5982:C87436 UTSW 6 86,422,957 (GRCm39) missense possibly damaging 0.87
R6171:C87436 UTSW 6 86,422,449 (GRCm39) missense probably benign 0.04
R6744:C87436 UTSW 6 86,423,046 (GRCm39) missense probably damaging 1.00
R7215:C87436 UTSW 6 86,439,662 (GRCm39) missense possibly damaging 0.80
R7253:C87436 UTSW 6 86,442,790 (GRCm39) missense probably damaging 1.00
R7876:C87436 UTSW 6 86,423,411 (GRCm39) splice site probably null
R8035:C87436 UTSW 6 86,424,337 (GRCm39) missense probably benign 0.01
R8312:C87436 UTSW 6 86,434,813 (GRCm39) missense probably damaging 1.00
R8919:C87436 UTSW 6 86,422,774 (GRCm39) missense probably damaging 1.00
R9091:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
R9099:C87436 UTSW 6 86,439,567 (GRCm39) missense probably damaging 1.00
R9208:C87436 UTSW 6 86,423,227 (GRCm39) missense probably benign 0.16
R9270:C87436 UTSW 6 86,442,813 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07