Incidental Mutation 'IGL02823:Prob1'
ID361096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prob1
Ensembl Gene ENSMUSG00000073600
Gene Nameproline rich basic protein 1
SynonymsLOC381148, Gm1614
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02823
Quality Score
Status
Chromosome18
Chromosomal Location35650351-35655238 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35652747 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 818 (V818E)
Ref Sequence ENSEMBL: ENSMUSP00000140465 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025209] [ENSMUST00000025211] [ENSMUST00000097619] [ENSMUST00000190196]
Predicted Effect probably benign
Transcript: ENSMUST00000025209
SMART Domains Protein: ENSMUSP00000025209
Gene: ENSMUSG00000024352

DomainStartEndE-ValueType
Pfam:SPATA24 10 191 1.5e-83 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025211
SMART Domains Protein: ENSMUSP00000025211
Gene: ENSMUSG00000024353

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DUF3456 48 177 5.8e-12 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000097619
AA Change: V814E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: V814E

DomainStartEndE-ValueType
low complexity region 78 102 N/A INTRINSIC
low complexity region 142 155 N/A INTRINSIC
low complexity region 207 223 N/A INTRINSIC
low complexity region 377 396 N/A INTRINSIC
low complexity region 536 553 N/A INTRINSIC
low complexity region 829 848 N/A INTRINSIC
Pfam:DUF4585 862 931 4.6e-27 PFAM
low complexity region 989 1002 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186951
Predicted Effect possibly damaging
Transcript: ENSMUST00000190196
AA Change: V818E

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: V818E

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
low complexity region 82 106 N/A INTRINSIC
low complexity region 146 159 N/A INTRINSIC
low complexity region 211 227 N/A INTRINSIC
low complexity region 381 400 N/A INTRINSIC
low complexity region 540 557 N/A INTRINSIC
low complexity region 833 852 N/A INTRINSIC
Pfam:DUF4585 864 936 7.5e-27 PFAM
low complexity region 993 1006 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,261,955 S194P probably damaging Het
3110043O21Rik A T 4: 35,213,031 C215S probably damaging Het
Abca7 T A 10: 80,008,822 D1488E probably damaging Het
Abhd18 A G 3: 40,933,518 probably benign Het
Atp6ap1l A G 13: 90,899,525 V56A probably benign Het
Atrip A G 9: 109,061,178 Y631H probably damaging Het
Dst A T 1: 34,192,083 H3097L possibly damaging Het
Ear1 G T 14: 43,819,045 S122* probably null Het
Eif2a G T 3: 58,548,671 A364S probably benign Het
Eps8l2 A T 7: 141,342,075 D22V probably damaging Het
Fam84b T C 15: 60,823,123 D258G probably damaging Het
Fndc7 A G 3: 108,869,171 F432S probably damaging Het
Gemin5 T C 11: 58,167,705 probably benign Het
Grxcr2 T C 18: 41,991,981 K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 I713T possibly damaging Het
Hs3st1 A G 5: 39,614,757 L181P probably damaging Het
Ksr1 C A 11: 79,021,403 V627L probably benign Het
Lama2 T C 10: 27,001,145 N2682D probably damaging Het
Map3k19 G T 1: 127,822,264 H1117N probably benign Het
Mdc1 C T 17: 35,852,923 A1121V probably damaging Het
Nlrp1a C T 11: 71,092,423 S1239N probably damaging Het
Olfr322 T C 11: 58,665,967 M136T possibly damaging Het
Prkra G T 2: 76,630,424 A310E probably damaging Het
Prl2c1 T C 13: 27,856,433 probably benign Het
Prl7a2 T C 13: 27,662,751 Y93C possibly damaging Het
Rbbp8 A G 18: 11,732,213 S720G possibly damaging Het
Rexo4 T C 2: 26,962,477 T149A probably benign Het
Slc39a2 T A 14: 51,895,412 Y271N probably damaging Het
Sprr2d T A 3: 92,340,427 C58* probably null Het
Srebf2 G A 15: 82,199,774 G965D possibly damaging Het
Tcof1 T C 18: 60,816,048 E1265G probably benign Het
Terf2 T C 8: 107,072,625 N389S possibly damaging Het
Vsig10l T C 7: 43,466,464 S410P probably damaging Het
Vwa3b A T 1: 37,186,904 probably benign Het
Other mutations in Prob1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Prob1 APN 18 35653333 missense possibly damaging 0.91
IGL02352:Prob1 APN 18 35652840 missense possibly damaging 0.53
IGL02359:Prob1 APN 18 35652840 missense possibly damaging 0.53
IGL03003:Prob1 APN 18 35653375 missense possibly damaging 0.73
IGL03390:Prob1 APN 18 35654139 missense probably benign 0.03
R0257:Prob1 UTSW 18 35653039 missense possibly damaging 0.53
R0421:Prob1 UTSW 18 35653030 missense possibly damaging 0.70
R0457:Prob1 UTSW 18 35652486 missense probably damaging 0.98
R0485:Prob1 UTSW 18 35653825 missense possibly damaging 0.53
R0575:Prob1 UTSW 18 35654721 missense possibly damaging 0.85
R1056:Prob1 UTSW 18 35653610 missense probably benign
R1147:Prob1 UTSW 18 35654806 nonsense probably null
R1334:Prob1 UTSW 18 35653252 missense possibly damaging 0.53
R1727:Prob1 UTSW 18 35654311 missense possibly damaging 0.73
R1753:Prob1 UTSW 18 35653252 missense possibly damaging 0.53
R1826:Prob1 UTSW 18 35653575 missense possibly damaging 0.72
R1895:Prob1 UTSW 18 35652889 missense possibly damaging 0.53
R1937:Prob1 UTSW 18 35654226 missense possibly damaging 0.53
R2170:Prob1 UTSW 18 35654737 missense probably benign 0.18
R3435:Prob1 UTSW 18 35654241 missense possibly damaging 0.72
R4749:Prob1 UTSW 18 35652816 missense possibly damaging 0.91
R4968:Prob1 UTSW 18 35652552 missense probably damaging 0.98
R5107:Prob1 UTSW 18 35652936 missense possibly damaging 0.53
R5602:Prob1 UTSW 18 35654026 missense possibly damaging 0.96
R5646:Prob1 UTSW 18 35654114 missense probably benign 0.18
R6035:Prob1 UTSW 18 35654782 missense probably benign 0.18
R6747:Prob1 UTSW 18 35655154 missense probably damaging 0.97
R6954:Prob1 UTSW 18 35654268 missense probably benign
R7061:Prob1 UTSW 18 35654500 missense probably benign 0.18
R7292:Prob1 UTSW 18 35654550 missense possibly damaging 0.93
R7296:Prob1 UTSW 18 35653299 missense possibly damaging 0.53
R7566:Prob1 UTSW 18 35654985 missense probably benign 0.33
R7723:Prob1 UTSW 18 35652889 missense possibly damaging 0.53
R7787:Prob1 UTSW 18 35652232 missense possibly damaging 0.73
R7798:Prob1 UTSW 18 35653344 missense possibly damaging 0.93
R8048:Prob1 UTSW 18 35653551 missense probably benign 0.00
R8101:Prob1 UTSW 18 35653233 missense possibly damaging 0.85
X0067:Prob1 UTSW 18 35653091 missense possibly damaging 0.70
Z1088:Prob1 UTSW 18 35652769 missense possibly damaging 0.85
Posted On2015-12-18