Incidental Mutation 'IGL02883:Cep295nl'
ID362887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cep295nl
Ensembl Gene ENSMUSG00000076433
Gene NameCEP295 N-terminal like
SynonymsDdc8, BC100451
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02883
Quality Score
Status
Chromosome11
Chromosomal Location118332360-118342500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118333909 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 36 (S36R)
Ref Sequence ENSEMBL: ENSMUSP00000128122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017610] [ENSMUST00000103024] [ENSMUST00000155707] [ENSMUST00000168100]
Predicted Effect probably benign
Transcript: ENSMUST00000017610
SMART Domains Protein: ENSMUSP00000017610
Gene: ENSMUSG00000017466

DomainStartEndE-ValueType
low complexity region 3 26 N/A INTRINSIC
NTR 27 203 1.05e-135 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103024
AA Change: S36R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: S36R

DomainStartEndE-ValueType
coiled coil region 43 72 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
low complexity region 273 282 N/A INTRINSIC
low complexity region 310 322 N/A INTRINSIC
low complexity region 451 468 N/A INTRINSIC
coiled coil region 495 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155707
SMART Domains Protein: ENSMUSP00000122642
Gene: ENSMUSG00000017466

DomainStartEndE-ValueType
NTR 1 126 1.48e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168100
AA Change: S36R

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: S36R

DomainStartEndE-ValueType
coiled coil region 43 72 N/A INTRINSIC
low complexity region 105 126 N/A INTRINSIC
low complexity region 273 282 N/A INTRINSIC
low complexity region 310 322 N/A INTRINSIC
low complexity region 451 468 N/A INTRINSIC
coiled coil region 495 524 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype NO_PHENOTYPE,Homozygotes for targeted null mutations exhibit impaired activation of pro-matrix metalloproteinase-2, but appear phenotypically normal.
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,972 S186R possibly damaging Het
Acap2 A G 16: 31,096,345 probably benign Het
Cacna1h G T 17: 25,380,532 R1726S probably damaging Het
Cdca2 T C 14: 67,707,497 S133G probably damaging Het
Crispld1 A G 1: 17,746,789 N190S possibly damaging Het
Crtam A G 9: 40,994,501 V44A probably benign Het
Crtc1 C T 8: 70,406,125 G112S probably benign Het
Cyp17a1 T C 19: 46,669,351 N254S probably benign Het
Dmrta1 T C 4: 89,688,774 S156P probably benign Het
Eno2 A C 6: 124,766,209 V188G probably damaging Het
Fam20a A T 11: 109,675,127 I427N probably damaging Het
Fat2 T C 11: 55,256,618 K3933E probably benign Het
Gm15448 A G 7: 3,822,180 S488P possibly damaging Het
Igkv8-30 T C 6: 70,117,617 M1V probably null Het
Ist1 G A 8: 109,683,668 probably benign Het
Kank4 T C 4: 98,773,453 E765G possibly damaging Het
Kat14 T C 2: 144,393,529 L92S probably damaging Het
Kcnu1 G A 8: 25,849,827 V58I probably benign Het
Lrba T A 3: 86,445,413 I1956N probably damaging Het
Lrba T A 3: 86,354,206 V1489E probably damaging Het
Mdn1 G A 4: 32,763,199 V5100I probably benign Het
Mkrn2os C A 6: 115,586,709 G122* probably null Het
Nme3 T C 17: 24,896,906 Y78H probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Ppp2r5c T G 12: 110,522,563 V56G possibly damaging Het
Pramef25 T C 4: 143,949,848 T229A possibly damaging Het
Prdm10 G A 9: 31,327,348 V179M probably damaging Het
Rab11fip2 A G 19: 59,906,998 V344A probably damaging Het
Selp G A 1: 164,130,102 A267T probably benign Het
Sf3a1 T A 11: 4,179,192 W718R probably damaging Het
Taar9 T C 10: 24,109,480 N19D probably benign Het
Tas2r113 T G 6: 132,893,419 S137A probably damaging Het
Traf4 A T 11: 78,161,621 I66N possibly damaging Het
Ucp3 A T 7: 100,480,642 T164S probably benign Het
Uggt1 A T 1: 36,177,615 N96K probably benign Het
Uqcc1 T A 2: 155,911,829 Q42L possibly damaging Het
Vmn1r128 A G 7: 21,349,515 K48R probably benign Het
Other mutations in Cep295nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Cep295nl APN 11 118333904 missense probably damaging 0.96
R1724:Cep295nl UTSW 11 118333028 missense probably benign 0.03
R1815:Cep295nl UTSW 11 118332648 missense probably damaging 1.00
R1999:Cep295nl UTSW 11 118333089 missense probably damaging 0.99
R2161:Cep295nl UTSW 11 118332509 missense possibly damaging 0.65
R2198:Cep295nl UTSW 11 118332593 missense probably benign 0.00
R4871:Cep295nl UTSW 11 118333824 missense probably damaging 0.98
R5348:Cep295nl UTSW 11 118333599 missense probably damaging 0.98
R5759:Cep295nl UTSW 11 118333646 missense possibly damaging 0.94
R6379:Cep295nl UTSW 11 118333730 missense probably benign 0.04
R7038:Cep295nl UTSW 11 118332989 missense probably benign 0.27
R7254:Cep295nl UTSW 11 118333040 missense probably damaging 1.00
R7456:Cep295nl UTSW 11 118333550 missense possibly damaging 0.88
R7494:Cep295nl UTSW 11 118333932 missense probably benign
Z1176:Cep295nl UTSW 11 118333019 missense possibly damaging 0.90
Z1176:Cep295nl UTSW 11 118333873 missense probably damaging 1.00
Posted On2015-12-18