Incidental Mutation 'R3111:Ncln'
ID 263781
Institutional Source Beutler Lab
Gene Symbol Ncln
Ensembl Gene ENSMUSG00000020238
Gene Name nicalin
Synonyms 3100002P13Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R3111 ()
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 81322083-81332226 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81323519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 51 (V51I)
Ref Sequence ENSEMBL: ENSMUSP00000115235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020463] [ENSMUST00000118498] [ENSMUST00000118763] [ENSMUST00000124437]
AlphaFold Q8VCM8
Predicted Effect probably benign
Transcript: ENSMUST00000020463
AA Change: V543I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000020463
Gene: ENSMUSG00000020238
AA Change: V543I

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 benign
Transcript: ENSMUST00000118498
AA Change: V542I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112744
Gene: ENSMUSG00000020238
AA Change: V542I

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 benign
Transcript: ENSMUST00000118763
SMART Domains Protein: ENSMUSP00000113675
Gene: ENSMUSG00000034818

DomainStartEndE-ValueType
RRM 8 84 7.41e-18 SMART
RRM 97 172 3.23e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124437
AA Change: V51I

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000115235
Gene: ENSMUSG00000020238
AA Change: V51I

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125521
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136721
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153205
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,069,655 (GRCm39) K1554* probably null Het
Car12 C T 9: 66,661,008 (GRCm39) T124I probably damaging Het
Ccdc180 T A 4: 45,900,470 (GRCm39) I278K possibly damaging Het
Disp1 A T 1: 182,869,087 (GRCm39) M1111K probably damaging Het
Fpr1 A T 17: 18,096,897 (GRCm39) M364K probably benign Het
Gad1-ps A G 10: 99,280,383 (GRCm39) noncoding transcript Het
Grn A G 11: 102,324,069 (GRCm39) T53A probably benign Het
Hmgxb3 T C 18: 61,280,454 (GRCm39) N683S probably damaging Het
Jarid2 T A 13: 45,059,752 (GRCm39) N661K probably damaging Het
Mfap3 T C 11: 57,420,406 (GRCm39) V129A probably damaging Het
Mip T A 10: 128,061,875 (GRCm39) L42* probably null Het
Myh4 T A 11: 67,137,276 (GRCm39) L499Q possibly damaging Het
Nmnat3 T A 9: 98,281,533 (GRCm39) I45N probably damaging Het
Or1e32 T C 11: 73,705,012 (GRCm39) R299G probably benign Het
Osbpl9 T C 4: 108,940,290 (GRCm39) I232V probably benign Het
Pcdha12 A T 18: 37,155,243 (GRCm39) H654L probably damaging Het
Pcmtd2 A T 2: 181,496,922 (GRCm39) I300F probably damaging Het
Pds5b T C 5: 150,643,372 (GRCm39) S65P probably damaging Het
Pgm1 C T 4: 99,813,222 (GRCm39) T11I probably benign Het
Phf24 G A 4: 42,938,316 (GRCm39) V226I probably benign Het
Pigo T C 4: 43,021,083 (GRCm39) T612A probably benign Het
Plekhh3 T C 11: 101,054,973 (GRCm39) probably benign Het
Ptprf T C 4: 118,068,629 (GRCm39) D1713G probably damaging Het
Rbp3 G T 14: 33,676,069 (GRCm39) V6F probably benign Het
Sac3d1 T C 19: 6,168,387 (GRCm39) K77R probably benign Het
Slc1a6 T A 10: 78,624,915 (GRCm39) S107T probably damaging Het
Syce1l A G 8: 114,381,579 (GRCm39) Q164R probably benign Het
Tgfbi T C 13: 56,757,547 (GRCm39) Y30H probably damaging Het
Tmem217 A T 17: 29,745,532 (GRCm39) V66D probably damaging Het
Tnn C A 1: 159,934,625 (GRCm39) D1263Y probably damaging Het
Ylpm1 T C 12: 85,076,145 (GRCm39) F499L 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
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
R7141:Ncln UTSW 10 81,323,683 (GRCm39) nonsense 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'- AAACCCTCTGTGGTTCGTTC -3'
(R):5'- GCAAGTGATGAATGCTTACAGG -3'

Sequencing Primer
(F):5'- TGTGTGAATAGTACCTCCTGGGC -3'
(R):5'- CTTACAGGTGAGTGATGGGCCAG -3'
Posted On 2015-02-05