Incidental Mutation 'R7141:Ncln'
ID 553348
Institutional Source Beutler Lab
Gene Symbol Ncln
Ensembl Gene ENSMUSG00000020238
Gene Name nicalin
Synonyms 3100002P13Rik
MMRRC Submission 045221-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R7141 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 81322083-81332226 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 81323683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 517 (Y517*)
Ref Sequence ENSEMBL: ENSMUSP00000020463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000118498] [ENSMUST00000124437]
AlphaFold Q8VCM8
Predicted Effect probably null
Transcript: ENSMUST00000020463
AA Change: Y517*
SMART Domains Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: Y517*

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 205 421 1.8e-13 PFAM
Pfam:Nicastrin 217 411 2.1e-9 PFAM
transmembrane domain 521 543 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118498
AA Change: Y516*
SMART Domains Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: Y516*

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
low complexity region 160 172 N/A INTRINSIC
Pfam:Peptidase_M28 217 395 3.9e-12 PFAM
Pfam:Nicastrin 217 411 1.5e-10 PFAM
transmembrane domain 520 542 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000124437
AA Change: Y25*
SMART Domains Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
AA Change: Y25*

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A C 1: 74,323,270 (GRCm39) probably null Het
Abhd10 C T 16: 45,563,169 (GRCm39) R29Q probably benign Het
Adgrv1 A G 13: 81,640,620 (GRCm39) Y3369H probably benign Het
Agl A G 3: 116,546,935 (GRCm39) I1305T probably benign Het
Apba3 A G 10: 81,108,889 (GRCm39) I551V probably damaging Het
Appbp2 A T 11: 85,082,577 (GRCm39) Y551* probably null Het
Btbd17 T C 11: 114,682,641 (GRCm39) N357S possibly damaging Het
Casp2 T C 6: 42,257,329 (GRCm39) F426S possibly damaging Het
Cdh5 A G 8: 104,839,633 (GRCm39) N35D probably benign Het
Cep350 G T 1: 155,790,494 (GRCm39) Q1354K probably damaging Het
Cep44 A G 8: 56,992,886 (GRCm39) C243R probably damaging Het
Chst4 A T 8: 110,757,471 (GRCm39) S131T probably damaging Het
Cox15 T C 19: 43,725,186 (GRCm39) N406D probably benign Het
Cttnbp2 C T 6: 18,380,467 (GRCm39) R1467H probably benign Het
Dock8 A G 19: 25,158,984 (GRCm39) D1714G probably null Het
Erbb2 G T 11: 98,318,135 (GRCm39) R457L probably damaging Het
Esyt3 T C 9: 99,203,493 (GRCm39) N463S probably benign Het
Fam171a1 C T 2: 3,226,189 (GRCm39) Q441* probably null Het
Fam186b T A 15: 99,181,773 (GRCm39) M142L probably benign Het
Git2 G T 5: 114,907,759 (GRCm39) C35* probably null Het
Gm21103 T G 14: 17,482,795 (GRCm39) Q202P probably damaging Het
Gm5622 G T 14: 51,893,339 (GRCm39) E89* probably null Het
Hmcn2 C A 2: 31,250,908 (GRCm39) T790K probably benign Het
Hspg2 T A 4: 137,279,427 (GRCm39) L3114H probably damaging Het
Igkv3-10 A T 6: 70,549,965 (GRCm39) Q37L possibly damaging Het
Kcp G T 6: 29,487,511 (GRCm39) Y1106* probably null Het
Khsrp T C 17: 57,332,602 (GRCm39) D226G possibly damaging Het
Klre1 T A 6: 129,560,129 (GRCm39) W134R probably damaging Het
Lrrc66 A G 5: 73,787,320 (GRCm39) I10T probably benign Het
Map4 T C 9: 109,807,938 (GRCm39) M1T probably null Het
Met T A 6: 17,527,154 (GRCm39) I535K probably benign Het
Mmut T C 17: 41,263,730 (GRCm39) V500A possibly damaging Het
Mrgprb1 A G 7: 48,097,435 (GRCm39) V159A possibly damaging Het
Mrpl41 A G 2: 24,864,468 (GRCm39) L68P probably damaging Het
Mtmr4 T C 11: 87,491,439 (GRCm39) W135R probably damaging Het
Myh10 A G 11: 68,692,965 (GRCm39) D1420G probably benign Het
Naglu A C 11: 100,963,056 (GRCm39) D229A probably benign Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nr1h4 G A 10: 89,334,091 (GRCm39) R100* probably null Het
Or5k1 G A 16: 58,617,771 (GRCm39) T146M probably benign Het
P2rx5 A T 11: 73,051,474 (GRCm39) T18S probably damaging Het
Pclo T C 5: 14,729,271 (GRCm39) S2710P unknown Het
Pdhx A T 2: 102,903,659 (GRCm39) F46I probably benign Het
Piezo2 A T 18: 63,278,181 (GRCm39) L241* probably null Het
Pitpnm1 G A 19: 4,152,787 (GRCm39) V65M probably damaging Het
Rgs3 A G 4: 62,608,724 (GRCm39) D330G probably damaging Het
Scaf8 T C 17: 3,209,457 (GRCm39) V60A unknown Het
Sema4c A G 1: 36,592,101 (GRCm39) Y249H probably damaging Het
Spp2 T C 1: 88,335,050 (GRCm39) Y27H probably damaging Het
Sugct T A 13: 17,819,372 (GRCm39) I158F possibly damaging Het
Sympk A T 7: 18,788,017 (GRCm39) I1178F probably benign Het
Tmppe T C 9: 114,234,036 (GRCm39) Y112H probably benign Het
Trp53bp2 A G 1: 182,276,073 (GRCm39) T187A Het
Tspoap1 A G 11: 87,665,523 (GRCm39) S754G probably damaging Het
Vmn1r214 C T 13: 23,218,839 (GRCm39) A111V probably benign Het
Vmn2r70 G C 7: 85,208,044 (GRCm39) S811C probably benign Het
Zfp638 T C 6: 83,844,181 (GRCm39) S15P unknown Het
Zfp763 A G 17: 33,237,769 (GRCm39) S459P probably damaging Het
Other mutations in Ncln
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02084:Ncln APN 10 81,324,430 (GRCm39) missense probably benign
IGL03012:Ncln APN 10 81,325,799 (GRCm39) missense probably benign 0.04
oxygen UTSW 10 81,328,987 (GRCm39) missense possibly damaging 0.94
trilobite UTSW 10 81,326,118 (GRCm39) missense probably damaging 1.00
R0399:Ncln UTSW 10 81,324,131 (GRCm39) missense probably damaging 1.00
R1203:Ncln UTSW 10 81,332,027 (GRCm39) missense possibly damaging 0.48
R1436:Ncln UTSW 10 81,325,727 (GRCm39) missense probably damaging 0.98
R1664:Ncln UTSW 10 81,323,555 (GRCm39) missense probably benign 0.19
R2356:Ncln UTSW 10 81,328,756 (GRCm39) missense probably benign 0.01
R2926:Ncln UTSW 10 81,324,272 (GRCm39) missense probably benign 0.09
R3110:Ncln UTSW 10 81,323,519 (GRCm39) missense probably benign 0.07
R3111:Ncln UTSW 10 81,323,519 (GRCm39) missense probably benign 0.07
R3112:Ncln UTSW 10 81,323,519 (GRCm39) missense probably benign 0.07
R4661:Ncln UTSW 10 81,328,902 (GRCm39) missense probably damaging 0.98
R5910:Ncln UTSW 10 81,331,912 (GRCm39) critical splice donor site probably null
R6359:Ncln UTSW 10 81,326,118 (GRCm39) missense probably damaging 1.00
R6809:Ncln UTSW 10 81,323,512 (GRCm39) critical splice donor site probably null
R7145:Ncln UTSW 10 81,324,086 (GRCm39) missense probably benign 0.09
R7966:Ncln UTSW 10 81,326,103 (GRCm39) nonsense probably null
R8110:Ncln UTSW 10 81,328,987 (GRCm39) missense possibly damaging 0.94
R8355:Ncln UTSW 10 81,323,703 (GRCm39) missense probably damaging 1.00
R8911:Ncln UTSW 10 81,323,519 (GRCm39) missense probably benign 0.07
R9211:Ncln UTSW 10 81,323,527 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTGCACAGCTGCTTACCTGG -3'
(R):5'- GAGTTTCTAGTCCCCTTGGCTG -3'

Sequencing Primer
(F):5'- CTTACCTGGACGGCTGTGTAC -3'
(R):5'- TCTCAATCTGTAGCCTGGGCAAG -3'
Posted On 2019-05-15