Incidental Mutation 'IGL01943:Prol1'
ID 180915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prol1
Ensembl Gene ENSMUSG00000064156
Gene Name proline rich, lacrimal 1
Synonyms Muc10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # IGL01943
Quality Score
Status
Chromosome 5
Chromosomal Location 88465171-88476673 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88475820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 70 (M70K)
Ref Sequence ENSEMBL: ENSMUSP00000132678 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170832]
AlphaFold E9PYQ4
Predicted Effect probably benign
Transcript: ENSMUST00000170832
AA Change: M70K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000132678
Gene: ENSMUSG00000064156
AA Change: M70K

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 40 52 N/A INTRINSIC
low complexity region 99 295 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Bcam C T 7: 19,499,423 (GRCm39) R200H probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Prol1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Prol1 APN 5 88,475,718 (GRCm39) missense probably benign 0.31
IGL00500:Prol1 APN 5 88,476,550 (GRCm39) makesense probably null
IGL03291:Prol1 APN 5 88,476,379 (GRCm39) missense unknown
R2144:Prol1 UTSW 5 88,476,254 (GRCm39) missense unknown
R2888:Prol1 UTSW 5 88,476,168 (GRCm39) missense unknown
R3849:Prol1 UTSW 5 88,476,476 (GRCm39) missense unknown
R4078:Prol1 UTSW 5 88,476,075 (GRCm39) missense unknown
R4079:Prol1 UTSW 5 88,476,075 (GRCm39) missense unknown
R4166:Prol1 UTSW 5 88,476,530 (GRCm39) missense unknown
R5447:Prol1 UTSW 5 88,476,125 (GRCm39) missense unknown
R5709:Prol1 UTSW 5 88,475,711 (GRCm39) nonsense probably null
R6253:Prol1 UTSW 5 88,475,736 (GRCm39) missense probably damaging 0.97
R7804:Prol1 UTSW 5 88,476,264 (GRCm39) missense unknown
R7935:Prol1 UTSW 5 88,475,874 (GRCm39) missense probably damaging 0.97
R9697:Prol1 UTSW 5 88,466,426 (GRCm39) missense probably benign 0.16
Posted On 2014-05-07