Incidental Mutation 'IGL02216:Rptn'
ID 284899
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rptn
Ensembl Gene ENSMUSG00000041984
Gene Name repetin
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # IGL02216
Quality Score
Status
Chromosome 3
Chromosomal Location 93301006-93306749 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93303080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 138 (S138P)
Ref Sequence ENSEMBL: ENSMUSP00000044998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045912]
AlphaFold P97347
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
4930544D05Rik T C 11: 70,507,005 (GRCm39) F48L possibly damaging Het
Adamts12 A G 15: 11,241,571 (GRCm39) N381S possibly damaging Het
Akp3 A T 1: 87,055,372 (GRCm39) Q473L probably damaging Het
Albfm1 T C 5: 90,727,438 (GRCm39) probably benign Het
Ap5s1 T A 2: 131,054,887 (GRCm39) probably benign Het
Atp10b T A 11: 43,150,616 (GRCm39) L1438Q probably damaging Het
B3galt4 G A 17: 34,169,539 (GRCm39) P233L probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cc2d1a C A 8: 84,865,942 (GRCm39) E393* probably null Het
Cd209a G T 8: 3,795,576 (GRCm39) T165N probably damaging Het
Chid1 T C 7: 141,076,506 (GRCm39) probably benign Het
Cln3 A T 7: 126,174,514 (GRCm39) probably null Het
Cped1 A T 6: 22,059,944 (GRCm39) R203S probably damaging Het
Dele1 A T 18: 38,385,913 (GRCm39) I102F probably damaging Het
Dnttip2 G T 3: 122,069,910 (GRCm39) W375L probably benign Het
Dync1h1 T C 12: 110,629,436 (GRCm39) F4280S probably damaging Het
Ephb4 A G 5: 137,370,332 (GRCm39) D844G possibly damaging Het
Fhl2 T A 1: 43,170,879 (GRCm39) E145V probably null Het
Gne T C 4: 44,044,761 (GRCm39) K458E probably benign Het
Grid2 G T 6: 64,322,650 (GRCm39) R550L probably damaging Het
Klhl1 T A 14: 96,360,658 (GRCm39) T731S probably benign Het
Kng1 T A 16: 22,877,283 (GRCm39) D30E probably damaging Het
Kyat1 A G 2: 30,077,264 (GRCm39) V158A probably benign Het
Mcm8 G T 2: 132,681,449 (GRCm39) V642F probably damaging Het
Mdn1 C T 4: 32,739,092 (GRCm39) H3638Y probably benign Het
Neb T G 2: 52,116,502 (GRCm39) T4158P probably benign Het
Neo1 T C 9: 58,824,336 (GRCm39) I697M probably damaging Het
Nfkb1 A T 3: 135,300,724 (GRCm39) V614D probably damaging Het
Or7e169 G A 9: 19,757,861 (GRCm39) S18L probably damaging Het
Otog T C 7: 45,950,892 (GRCm39) S2555P probably damaging Het
Pkd1l1 T A 11: 8,784,897 (GRCm39) R1962S probably damaging Het
Plxnb1 A G 9: 108,929,918 (GRCm39) Y258C probably damaging Het
Pramel12 T A 4: 143,144,298 (GRCm39) probably null Het
Prl3a1 A G 13: 27,454,127 (GRCm39) D35G probably benign Het
Rag1 A T 2: 101,473,726 (GRCm39) V472D possibly damaging Het
Rbpj-ps3 G A 6: 46,506,641 (GRCm39) probably benign Het
Rnf112 C T 11: 61,340,804 (GRCm39) V472M probably damaging Het
Rps18 A G 17: 34,171,015 (GRCm39) probably benign Het
Sbpl A C 17: 24,172,690 (GRCm39) N76K probably benign Het
Sh3bp1 A T 15: 78,789,364 (GRCm39) M241L probably benign Het
Slc22a17 T C 14: 55,145,433 (GRCm39) *198W probably null Het
Smc3 C T 19: 53,610,275 (GRCm39) R221C probably damaging Het
Snai1 A G 2: 167,380,768 (GRCm39) E87G probably benign Het
Snx22 C A 9: 65,976,470 (GRCm39) A49S probably benign Het
Tas2r143 A T 6: 42,377,268 (GRCm39) R33* probably null Het
Try4 A G 6: 41,281,965 (GRCm39) I184V probably benign Het
Ttn T A 2: 76,584,896 (GRCm39) K20355* probably null Het
Ttn A G 2: 76,622,069 (GRCm39) V15491A probably benign Het
Tut7 T C 13: 59,948,237 (GRCm39) T293A probably benign Het
Vmn1r170 A G 7: 23,305,915 (GRCm39) T106A probably damaging Het
Vmn2r59 A T 7: 41,661,817 (GRCm39) V666E probably damaging Het
Vsx1 T C 2: 150,526,495 (GRCm39) N221S possibly damaging Het
Zfp846 A G 9: 20,499,905 (GRCm39) E45G probably damaging Het
Other mutations in Rptn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Rptn APN 3 93,304,489 (GRCm39) missense probably benign
IGL01070:Rptn APN 3 93,305,483 (GRCm39) missense possibly damaging 0.86
IGL01625:Rptn APN 3 93,305,201 (GRCm39) missense probably benign 0.18
IGL01678:Rptn APN 3 93,304,118 (GRCm39) missense probably benign 0.00
IGL01716:Rptn APN 3 93,304,017 (GRCm39) missense possibly damaging 0.53
IGL01767:Rptn APN 3 93,302,946 (GRCm39) missense probably benign 0.00
IGL01872:Rptn APN 3 93,304,154 (GRCm39) missense probably benign
IGL02000:Rptn APN 3 93,303,735 (GRCm39) missense probably benign 0.01
IGL02066:Rptn APN 3 93,304,436 (GRCm39) missense probably benign 0.01
IGL02090:Rptn APN 3 93,304,041 (GRCm39) missense possibly damaging 0.85
IGL02116:Rptn APN 3 93,302,404 (GRCm39) missense possibly damaging 0.88
IGL02368:Rptn APN 3 93,304,478 (GRCm39) missense probably benign 0.18
IGL02820:Rptn APN 3 93,304,227 (GRCm39) missense probably benign 0.01
IGL03323:Rptn APN 3 93,304,460 (GRCm39) missense probably benign
IGL03404:Rptn APN 3 93,305,436 (GRCm39) missense possibly damaging 0.53
D3080:Rptn UTSW 3 93,303,135 (GRCm39) missense possibly damaging 0.85
H8786:Rptn UTSW 3 93,305,180 (GRCm39) missense possibly damaging 0.53
IGL03097:Rptn UTSW 3 93,304,680 (GRCm39) missense probably damaging 1.00
LCD18:Rptn UTSW 3 93,304,848 (GRCm39) missense probably benign
PIT4431001:Rptn UTSW 3 93,304,704 (GRCm39) small deletion probably benign
PIT4480001:Rptn UTSW 3 93,304,977 (GRCm39) missense possibly damaging 0.85
R1024:Rptn UTSW 3 93,305,532 (GRCm39) missense possibly damaging 0.72
R1119:Rptn UTSW 3 93,303,552 (GRCm39) missense possibly damaging 0.96
R1727:Rptn UTSW 3 93,304,445 (GRCm39) missense possibly damaging 0.73
R1901:Rptn UTSW 3 93,304,017 (GRCm39) missense possibly damaging 0.53
R2247:Rptn UTSW 3 93,304,136 (GRCm39) missense probably benign
R2921:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R2922:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R2923:Rptn UTSW 3 93,306,015 (GRCm39) missense possibly damaging 0.96
R3901:Rptn UTSW 3 93,305,664 (GRCm39) missense probably benign
R3936:Rptn UTSW 3 93,302,883 (GRCm39) missense possibly damaging 0.79
R4304:Rptn UTSW 3 93,304,238 (GRCm39) missense probably benign 0.33
R4491:Rptn UTSW 3 93,303,818 (GRCm39) nonsense probably null
R4654:Rptn UTSW 3 93,304,792 (GRCm39) missense possibly damaging 0.53
R4870:Rptn UTSW 3 93,303,776 (GRCm39) nonsense probably null
R5246:Rptn UTSW 3 93,305,036 (GRCm39) missense possibly damaging 0.53
R5246:Rptn UTSW 3 93,304,140 (GRCm39) missense probably damaging 0.98
R5544:Rptn UTSW 3 93,305,780 (GRCm39) missense possibly damaging 0.53
R5555:Rptn UTSW 3 93,304,008 (GRCm39) missense probably benign
R5896:Rptn UTSW 3 93,305,639 (GRCm39) nonsense probably null
R5956:Rptn UTSW 3 93,305,334 (GRCm39) missense possibly damaging 0.53
R6192:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6209:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6224:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6226:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6227:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6230:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6247:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6258:Rptn UTSW 3 93,305,437 (GRCm39) missense possibly damaging 0.53
R6393:Rptn UTSW 3 93,304,506 (GRCm39) missense probably benign
R6513:Rptn UTSW 3 93,303,419 (GRCm39) missense possibly damaging 0.73
R6854:Rptn UTSW 3 93,305,430 (GRCm39) missense possibly damaging 0.53
R6855:Rptn UTSW 3 93,305,558 (GRCm39) missense probably benign 0.33
R6884:Rptn UTSW 3 93,303,096 (GRCm39) missense probably benign 0.33
R7018:Rptn UTSW 3 93,305,207 (GRCm39) missense possibly damaging 0.73
R7241:Rptn UTSW 3 93,303,261 (GRCm39) missense probably benign 0.01
R7337:Rptn UTSW 3 93,304,212 (GRCm39) missense probably benign 0.03
R7754:Rptn UTSW 3 93,303,228 (GRCm39) missense probably damaging 0.98
R7794:Rptn UTSW 3 93,303,036 (GRCm39) missense probably benign
R7801:Rptn UTSW 3 93,305,531 (GRCm39) missense possibly damaging 0.53
R8161:Rptn UTSW 3 93,304,000 (GRCm39) small deletion probably benign
R8374:Rptn UTSW 3 93,303,602 (GRCm39) nonsense probably null
R8671:Rptn UTSW 3 93,305,501 (GRCm39) missense probably benign 0.18
R8804:Rptn UTSW 3 93,303,150 (GRCm39) missense probably damaging 0.98
R8934:Rptn UTSW 3 93,303,219 (GRCm39) missense probably benign 0.00
R8938:Rptn UTSW 3 93,302,332 (GRCm39) missense possibly damaging 0.93
R9056:Rptn UTSW 3 93,304,412 (GRCm39) missense probably benign 0.33
R9082:Rptn UTSW 3 93,302,928 (GRCm39) missense possibly damaging 0.94
R9140:Rptn UTSW 3 93,303,445 (GRCm39) nonsense probably null
R9310:Rptn UTSW 3 93,304,384 (GRCm39) missense probably benign 0.00
R9392:Rptn UTSW 3 93,305,721 (GRCm39) missense probably benign
R9403:Rptn UTSW 3 93,302,349 (GRCm39) missense probably benign 0.17
R9564:Rptn UTSW 3 93,304,536 (GRCm39) missense probably benign
R9748:Rptn UTSW 3 93,304,761 (GRCm39) missense possibly damaging 0.85
X0018:Rptn UTSW 3 93,303,248 (GRCm39) nonsense probably null
Z1088:Rptn UTSW 3 93,304,734 (GRCm39) missense probably benign 0.01
Z1176:Rptn UTSW 3 93,302,325 (GRCm39) missense probably benign 0.26
Z1177:Rptn UTSW 3 93,305,194 (GRCm39) missense possibly damaging 0.73
Z1177:Rptn UTSW 3 93,303,019 (GRCm39) missense probably benign 0.01
Z1177:Rptn UTSW 3 93,302,950 (GRCm39) nonsense probably null
Posted On 2015-04-16