Incidental Mutation 'IGL01583:Lrcol1'
ID 91437
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lrcol1
Ensembl Gene ENSMUSG00000072754
Gene Name leucine rich colipase-like 1
Synonyms Gm1679
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL01583
Quality Score
Status
Chromosome 5
Chromosomal Location 110492596-110503960 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110502444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 107 (S107T)
Ref Sequence ENSEMBL: ENSMUSP00000139397 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100924] [ENSMUST00000185691] [ENSMUST00000186408] [ENSMUST00000190963]
AlphaFold Q3URS3
Predicted Effect probably benign
Transcript: ENSMUST00000100924
AA Change: S68T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000098484
Gene: ENSMUSG00000072754
AA Change: S68T

DomainStartEndE-ValueType
Pfam:Colipase-like 1 44 5.1e-17 PFAM
Pfam:Colipase-like 27 116 8.6e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185691
AA Change: S107T

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139397
Gene: ENSMUSG00000072754
AA Change: S107T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Colipase-like 26 85 3.8e-19 PFAM
Pfam:Colipase-like 66 155 3.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190060
Predicted Effect probably benign
Transcript: ENSMUST00000190963
AA Change: H60Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000140133
Gene: ENSMUSG00000072754
AA Change: H60Q

DomainStartEndE-ValueType
Pfam:Colipase-like 1 67 1e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 A T 2: 69,126,753 (GRCm39) M329K possibly damaging Het
Abce1 G A 8: 80,420,076 (GRCm39) T300M probably damaging Het
Acap1 G A 11: 69,772,503 (GRCm39) S536L probably damaging Het
Adcy5 C A 16: 35,103,883 (GRCm39) probably benign Het
Ap2b1 G T 11: 83,215,437 (GRCm39) R127L possibly damaging Het
Asxl3 T G 18: 22,649,654 (GRCm39) S548A probably benign Het
Atm G A 9: 53,395,547 (GRCm39) probably benign Het
Cep250 T C 2: 155,818,069 (GRCm39) V807A probably damaging Het
Ces1g T A 8: 94,033,587 (GRCm39) Y445F probably damaging Het
Cnksr3 A G 10: 7,070,512 (GRCm39) Y241H probably benign Het
Col9a1 T C 1: 24,224,225 (GRCm39) S136P unknown Het
Cux2 C A 5: 122,012,170 (GRCm39) G422W probably damaging Het
Cyp1a2 A T 9: 57,589,655 (GRCm39) M53K probably benign Het
Ddx20 T C 3: 105,593,986 (GRCm39) D123G probably damaging Het
Dock4 T A 12: 40,860,466 (GRCm39) L1284* probably null Het
Dpp9 A C 17: 56,518,666 (GRCm39) L46R probably benign Het
Elavl1 A T 8: 4,351,699 (GRCm39) V139E probably damaging Het
Fndc3b T C 3: 27,483,144 (GRCm39) Y1018C probably damaging Het
Fubp1 A G 3: 151,921,261 (GRCm39) N78D possibly damaging Het
Fubp3 C T 2: 31,501,755 (GRCm39) probably benign Het
Gbx2 C A 1: 89,856,559 (GRCm39) R277L probably damaging Het
Gm128 T C 3: 95,148,094 (GRCm39) R67G possibly damaging Het
Gpc2 T A 5: 138,273,792 (GRCm39) R469W probably damaging Het
Ifi30 G A 8: 71,217,407 (GRCm39) probably benign Het
Kbtbd4 T C 2: 90,736,252 (GRCm39) S88P probably damaging Het
Kif23 A T 9: 61,842,750 (GRCm39) Y216N probably damaging Het
Lgals4 A G 7: 28,540,973 (GRCm39) D299G probably damaging Het
Lmx1b A G 2: 33,459,071 (GRCm39) S161P probably benign Het
Lrrc28 A T 7: 67,195,223 (GRCm39) probably null Het
Ncoa4 T C 14: 31,894,884 (GRCm39) V42A probably benign Het
Nkd2 C T 13: 73,969,599 (GRCm39) S277N probably benign Het
Nlrp2 A T 7: 5,340,769 (GRCm39) L15Q probably damaging Het
Nynrin T G 14: 56,107,968 (GRCm39) L1025R probably damaging Het
Or12d12 C T 17: 37,610,629 (GRCm39) R228H probably benign Het
Or5w1 G T 2: 87,486,757 (GRCm39) C169* probably null Het
Piwil4 A T 9: 14,645,783 (GRCm39) F152I probably damaging Het
Plod3 T C 5: 137,025,002 (GRCm39) S705P probably benign Het
Ppp2r2c T A 5: 37,026,166 (GRCm39) M1K probably null Het
Rgs19 T C 2: 181,331,246 (GRCm39) E129G probably damaging Het
Rpap2 T A 5: 107,768,061 (GRCm39) S223T probably damaging Het
Shox2 T C 3: 66,881,104 (GRCm39) probably benign Het
Slc30a4 T C 2: 122,527,137 (GRCm39) I370V probably benign Het
Slco1b2 A G 6: 141,609,398 (GRCm39) I269M possibly damaging Het
Slco1c1 A G 6: 141,485,793 (GRCm39) Y142C probably damaging Het
Slco3a1 T C 7: 73,934,198 (GRCm39) N658S probably benign Het
Sos1 A T 17: 80,741,329 (GRCm39) S485R probably benign Het
Srpk1 A G 17: 28,825,291 (GRCm39) L127P probably damaging Het
St3gal6 T A 16: 58,314,033 (GRCm39) probably benign Het
Stk4 T A 2: 163,916,134 (GRCm39) M1K probably null Het
Tbc1d12 A G 19: 38,871,176 (GRCm39) E313G probably benign Het
Tbk1 A G 10: 121,393,134 (GRCm39) I472T probably benign Het
Tiam1 G A 16: 89,586,168 (GRCm39) R849W probably damaging Het
Tle3 A G 9: 61,317,307 (GRCm39) T381A probably benign Het
Tmem82 T G 4: 141,341,954 (GRCm39) T337P probably benign Het
Tmprss15 T C 16: 78,868,149 (GRCm39) T220A probably benign Het
Ung A G 5: 114,275,369 (GRCm39) K242E possibly damaging Het
Vmn1r211 A T 13: 23,036,571 (GRCm39) M32K probably benign Het
Vps13d T G 4: 144,771,658 (GRCm39) D956A probably damaging Het
Wdr64 T A 1: 175,594,722 (GRCm39) probably null Het
Other mutations in Lrcol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01790:Lrcol1 APN 5 110,502,073 (GRCm39) missense probably damaging 1.00
IGL02635:Lrcol1 APN 5 110,502,459 (GRCm39) missense probably benign
R4829:Lrcol1 UTSW 5 110,502,393 (GRCm39) missense probably benign 0.44
R4927:Lrcol1 UTSW 5 110,502,163 (GRCm39) splice site probably null
R5246:Lrcol1 UTSW 5 110,502,377 (GRCm39) missense possibly damaging 0.53
R7912:Lrcol1 UTSW 5 110,502,715 (GRCm39) missense probably damaging 0.98
Posted On 2013-12-09