Incidental Mutation 'IGL02216:Rptn'
ID284899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rptn
Ensembl Gene ENSMUSG00000041984
Gene Namerepetin
Synonyms
Accession Numbers

Genbank: NM_009100; MGI: 1099055

Is this an essential gene? Probably non essential (E-score: 0.039) question?
Stock #IGL02216
Quality Score
Status
Chromosome3
Chromosomal Location93393699-93399442 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93395773 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 138 (S138P)
Ref Sequence ENSEMBL: ENSMUSP00000044998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045912]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045912
AA Change: S138P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: S138P

DomainStartEndE-ValueType
Pfam:S_100 4 46 3.2e-13 PFAM
Blast:EFh 53 81 5e-10 BLAST
low complexity region 189 204 N/A INTRINSIC
low complexity region 237 252 N/A INTRINSIC
Blast:CTD 318 461 1e-7 BLAST
low complexity region 1007 1041 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191784
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195137
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik A T 18: 38,252,860 I102F probably damaging Het
4930544D05Rik T C 11: 70,616,179 F48L possibly damaging Het
5830473C10Rik T C 5: 90,579,579 probably benign Het
Adamts12 A G 15: 11,241,485 N381S possibly damaging Het
Akp3 A T 1: 87,127,650 Q473L probably damaging Het
Ap5s1 T A 2: 131,212,967 probably benign Het
Atp10b T A 11: 43,259,789 L1438Q probably damaging Het
B3galt4 G A 17: 33,950,565 P233L probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cc2d1a C A 8: 84,139,313 E393* probably null Het
Cd209a G T 8: 3,745,576 T165N probably damaging Het
Chid1 T C 7: 141,496,593 probably benign Het
Cln3 A T 7: 126,575,342 probably null Het
Cped1 A T 6: 22,059,945 R203S probably damaging Het
Dnttip2 G T 3: 122,276,261 W375L probably benign Het
Dync1h1 T C 12: 110,663,002 F4280S probably damaging Het
Ephb4 A G 5: 137,372,070 D844G possibly damaging Het
Fhl2 T A 1: 43,131,719 probably null Het
Gne T C 4: 44,044,761 K458E probably benign Het
Grid2 G T 6: 64,345,666 R550L probably damaging Het
Klhl1 T A 14: 96,123,222 T731S probably benign Het
Kng1 T A 16: 23,058,533 D30E probably damaging Het
Kyat1 A G 2: 30,187,252 V158A probably benign Het
Mcm8 G T 2: 132,839,529 V642F probably damaging Het
Mdn1 C T 4: 32,739,092 H3638Y probably benign Het
Neb T G 2: 52,226,490 probably null Het
Neo1 T C 9: 58,917,053 I697M probably damaging Het
Nfkb1 A T 3: 135,594,963 V614D probably damaging Het
Olfr860 G A 9: 19,846,565 S18L probably damaging Het
Otog T C 7: 46,301,468 S2555P probably damaging Het
Pkd1l1 T A 11: 8,834,897 R1962S probably damaging Het
Plxnb1 A G 9: 109,100,850 Y258C probably damaging Het
Pramef8 T A 4: 143,417,728 probably null Het
Prl3a1 A G 13: 27,270,144 D35G probably benign Het
Rag1 A T 2: 101,643,381 V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,529,707 Het
Rnf112 C T 11: 61,449,978 V472M probably damaging Het
Rps18 A G 17: 33,952,041 probably benign Het
Sbpl A C 17: 23,953,716 N76K probably benign Het
Sh3bp1 A T 15: 78,905,164 M241L probably benign Het
Slc22a17 T C 14: 54,907,976 *198W probably null Het
Smc3 C T 19: 53,621,844 R221C probably damaging Het
Snai1 A G 2: 167,538,848 E87G probably benign Het
Snx22 C A 9: 66,069,188 A49S probably benign Het
Tas2r143 A T 6: 42,400,334 R33* probably null Het
Try4 A G 6: 41,305,031 I184V probably benign Het
Ttn T A 2: 76,754,552 K20355* probably null Het
Ttn A G 2: 76,791,725 V15491A probably benign Het
Vmn1r170 A G 7: 23,606,490 T106A probably damaging Het
Vmn2r59 A T 7: 42,012,393 V666E probably damaging Het
Vsx1 T C 2: 150,684,575 N221S possibly damaging Het
Zcchc6 T C 13: 59,800,423 T293A probably benign Het
Zfp846 A G 9: 20,588,609 E45G probably damaging Het
Other mutations in Rptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Rptn APN 3 93397182 missense probably benign
IGL01070:Rptn APN 3 93398176 missense possibly damaging 0.86
IGL01625:Rptn APN 3 93397894 missense probably benign 0.18
IGL01678:Rptn APN 3 93396811 missense probably benign 0.00
IGL01716:Rptn APN 3 93396710 missense possibly damaging 0.53
IGL01767:Rptn APN 3 93395639 missense probably benign 0.00
IGL01872:Rptn APN 3 93396847 missense probably benign
IGL02000:Rptn APN 3 93396428 missense probably benign 0.01
IGL02066:Rptn APN 3 93397129 missense probably benign 0.01
IGL02090:Rptn APN 3 93396734 missense possibly damaging 0.85
IGL02116:Rptn APN 3 93395097 missense possibly damaging 0.88
IGL02368:Rptn APN 3 93397171 missense probably benign 0.18
IGL02820:Rptn APN 3 93396920 missense probably benign 0.01
IGL03323:Rptn APN 3 93397153 missense probably benign
IGL03404:Rptn APN 3 93398129 missense possibly damaging 0.53
D3080:Rptn UTSW 3 93395828 missense possibly damaging 0.85
H8786:Rptn UTSW 3 93397873 missense possibly damaging 0.53
IGL03097:Rptn UTSW 3 93397373 missense probably damaging 1.00
LCD18:Rptn UTSW 3 93397541 missense probably benign
R1024:Rptn UTSW 3 93398225 missense possibly damaging 0.72
R1119:Rptn UTSW 3 93396245 missense possibly damaging 0.96
R1727:Rptn UTSW 3 93397138 missense possibly damaging 0.73
R1901:Rptn UTSW 3 93396710 missense possibly damaging 0.53
R2247:Rptn UTSW 3 93396829 missense probably benign
R2921:Rptn UTSW 3 93398708 missense possibly damaging 0.96
R2922:Rptn UTSW 3 93398708 missense possibly damaging 0.96
R2923:Rptn UTSW 3 93398708 missense possibly damaging 0.96
R3901:Rptn UTSW 3 93398357 missense probably benign
R3936:Rptn UTSW 3 93395576 missense possibly damaging 0.79
R4304:Rptn UTSW 3 93396931 missense probably benign 0.33
R4491:Rptn UTSW 3 93396511 nonsense probably null
R4654:Rptn UTSW 3 93397485 missense possibly damaging 0.53
R4870:Rptn UTSW 3 93396469 nonsense probably null
R5246:Rptn UTSW 3 93396833 missense probably damaging 0.98
R5246:Rptn UTSW 3 93397729 missense possibly damaging 0.53
R5544:Rptn UTSW 3 93398473 missense possibly damaging 0.53
R5555:Rptn UTSW 3 93396701 missense probably benign
R5896:Rptn UTSW 3 93398332 nonsense probably null
R5956:Rptn UTSW 3 93398027 missense possibly damaging 0.53
R6192:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6209:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6224:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6226:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6227:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6230:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6247:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6258:Rptn UTSW 3 93398130 missense possibly damaging 0.53
R6393:Rptn UTSW 3 93397199 missense probably benign
R6513:Rptn UTSW 3 93396112 missense possibly damaging 0.73
R6854:Rptn UTSW 3 93398123 missense possibly damaging 0.53
R6855:Rptn UTSW 3 93398251 missense not run
R6884:Rptn UTSW 3 93395789 missense probably benign 0.33
X0018:Rptn UTSW 3 93395941 nonsense probably null
Z1088:Rptn UTSW 3 93397427 missense probably benign 0.01
Posted On2015-04-16