Incidental Mutation 'R2198:Cep295nl'
ID238517
Institutional Source Beutler Lab
Gene Symbol Cep295nl
Ensembl Gene ENSMUSG00000076433
Gene NameCEP295 N-terminal like
SynonymsDdc8, BC100451
MMRRC Submission 040200-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R2198 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location118332360-118342500 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 118332593 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 475 (I475N)
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: I475N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000099313
Gene: ENSMUSG00000076433
AA Change: I475N

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: I475N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000128122
Gene: ENSMUSG00000076433
AA Change: I475N

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
Meta Mutation Damage Score 0.1208 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (60/61)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik G T 7: 29,527,272 noncoding transcript Het
Adra1a T C 14: 66,637,936 I120T probably damaging Het
Akr1c21 C T 13: 4,577,465 P186L probably damaging Het
Alpk2 T C 18: 65,350,184 K251R probably benign Het
Ank2 T C 3: 126,934,577 E789G possibly damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,545,769 probably null Het
Cacna2d4 T C 6: 119,347,259 probably benign Het
Carf G A 1: 60,141,484 R355H probably damaging Het
Cdh20 A T 1: 104,947,322 probably null Het
Celf6 G T 9: 59,603,339 L169F possibly damaging Het
Chdh T A 14: 30,031,532 S133T possibly damaging Het
Cnot6l C T 5: 96,079,941 D478N possibly damaging Het
Ctnna3 C A 10: 65,002,745 T867K probably benign Het
Ctse T G 1: 131,672,447 Y311* probably null Het
Ddx60 T A 8: 61,958,063 M453K possibly damaging Het
Dnah9 A G 11: 65,859,499 F3927L possibly damaging Het
Dsg4 T C 18: 20,461,442 S543P probably benign Het
Dspp A T 5: 104,175,701 T237S probably benign Het
Eml6 T G 11: 29,850,935 H357P probably benign Het
Epha3 T C 16: 63,844,144 I38V possibly damaging Het
Erap1 C T 13: 74,646,687 T155I probably damaging Het
Erh T C 12: 80,642,785 probably benign Het
F5 A T 1: 164,207,034 K1834M probably damaging Het
Fyn A G 10: 39,529,545 E269G probably benign Het
Gm4884 A G 7: 41,040,805 T42A probably benign Het
Gm8979 T A 7: 106,083,551 M166L probably benign Het
Grm1 T G 10: 10,782,776 R323S probably damaging Het
Gstt4 T C 10: 75,822,401 D8G probably damaging Het
Ldlr A G 9: 21,732,402 D94G probably damaging Het
Mrpl54 G A 10: 81,265,741 probably null Het
Naip2 A T 13: 100,152,592 F1210Y probably damaging Het
Nifk A G 1: 118,329,400 R88G probably benign Het
Nlgn1 C T 3: 25,433,761 M803I probably damaging Het
Olfr1388 C T 11: 49,443,959 S36F probably benign Het
Olfr1537 G A 9: 39,237,752 T224I possibly damaging Het
Olfr458 A G 6: 42,461,016 M1T probably null Het
Olfr794 T A 10: 129,571,046 Y130* probably null Het
Pip4k2a A T 2: 18,847,655 M272K probably damaging Het
Ppp1cb G T 5: 32,483,360 C139F probably damaging Het
Rad23b G A 4: 55,385,497 G345R possibly damaging Het
Shc4 A T 2: 125,639,346 V548E possibly damaging Het
Slc26a9 A G 1: 131,763,263 probably benign Het
Slc8a1 T A 17: 81,408,256 K783* probably null Het
Sobp A C 10: 43,022,524 I355S possibly damaging Het
Thbs4 A G 13: 92,763,271 Y491H possibly damaging Het
Tle2 T C 10: 81,590,313 V727A probably damaging Het
Tmprss9 C T 10: 80,887,459 P251L probably damaging Het
Tnks A T 8: 34,848,649 D994E probably benign Het
Tnks C T 8: 34,873,067 D466N probably benign Het
Tonsl A G 15: 76,636,672 F394L probably benign Het
Trpa1 T A 1: 14,910,746 Y144F probably benign Het
Usp22 A G 11: 61,159,337 F324S probably damaging Het
Vmn1r78 G T 7: 12,152,560 V33F probably benign Het
Wdr81 C T 11: 75,446,081 R1494Q probably benign Het
Zc3h14 G A 12: 98,752,809 M144I probably damaging Het
Zc3h14 G A 12: 98,752,810 V145M possibly damaging Het
Zfp82 T C 7: 30,057,511 T49A probably benign Het
Other mutations in Cep295nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00958:Cep295nl APN 11 118333904 missense probably damaging 0.96
IGL02883:Cep295nl APN 11 118333909 missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- TTAAGAGACACACAGGCACG -3'
(R):5'- TCTGTAGCAAGCTGGATGGC -3'

Sequencing Primer
(F):5'- AGCCATCAGGGATGTATTTATCATGG -3'
(R):5'- CTTTGAGGCAAAAGCAGAAGGC -3'
Posted On2014-10-02