Incidental Mutation 'IGL03003:Prob1'
ID407451
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: 0.170) question?
Stock #IGL03003
Quality Score
Status
Chromosome18
Chromosomal Location35650351-35655238 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35653375 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 609 (S609P)
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: S605P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000095224
Gene: ENSMUSG00000073600
AA Change: S605P

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: S609P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140465
Gene: ENSMUSG00000073600
AA Change: S609P

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,743,772 P577L probably damaging Het
Aff3 A T 1: 38,209,570 S819T probably damaging Het
Aftph G T 11: 20,726,982 S209* probably null Het
Astn1 T A 1: 158,612,395 D844E probably benign Het
Cc2d2a A G 5: 43,671,266 K29E probably benign Het
Ccdc93 T C 1: 121,463,117 S273P possibly damaging Het
Cd200r3 G T 16: 44,943,775 M1I probably null Het
Cd200r3 C A 16: 44,943,776 H2N probably benign Het
Col7a1 G A 9: 108,974,956 probably null Het
Cyp3a41a T A 5: 145,705,830 M240L probably benign Het
D430042O09Rik A T 7: 125,851,960 I1088F probably damaging Het
Dcstamp T C 15: 39,754,510 V105A possibly damaging Het
Dmbt1 C A 7: 131,082,679 P635Q probably benign Het
Dsg1a T A 18: 20,336,819 M634K probably benign Het
Farp2 T C 1: 93,567,418 Y138H probably damaging Het
Fga T C 3: 83,032,730 S564P probably damaging Het
Gbf1 T C 19: 46,255,655 L142S probably damaging Het
Gm5422 T C 10: 31,250,844 noncoding transcript Het
Helz2 A G 2: 181,240,253 V249A probably damaging Het
Hmcn2 C A 2: 31,433,486 T4204K probably damaging Het
Ift81 T C 5: 122,594,662 I270V probably benign Het
Kif6 C T 17: 49,753,871 R411* probably null Het
Klhl35 T A 7: 99,470,343 V345D probably damaging Het
Mcm3ap C A 10: 76,504,697 D1531E probably benign Het
Muc5b C A 7: 141,863,614 D3432E probably benign Het
Nipbl A T 15: 8,350,314 V998D probably damaging Het
Nlrc3 C A 16: 3,964,862 V228L probably benign Het
Nrap T C 19: 56,321,952 H1456R probably damaging Het
Nt5c1b C T 12: 10,374,910 A210V possibly damaging Het
Olfr364-ps1 T C 2: 37,146,452 V80A probably benign Het
Olfr46 A G 7: 140,610,370 Y60C probably damaging Het
Osbpl7 T C 11: 97,050,695 Y15H probably benign Het
Pde8b T A 13: 95,041,957 N552Y probably damaging Het
Pi4kb T A 3: 94,984,812 S280T probably benign Het
Pkd1 T A 17: 24,593,603 probably null Het
Polh A T 17: 46,194,366 V108E possibly damaging Het
Ptprz1 T A 6: 23,002,583 N1557K probably damaging Het
Rev1 A C 1: 38,088,073 F369V possibly damaging Het
Rgma A G 7: 73,417,440 N148D probably damaging Het
Robo3 A G 9: 37,419,291 L1003S probably damaging Het
Sdhb T C 4: 140,973,000 V137A probably damaging Het
Sema6c T C 3: 95,169,614 L337P probably damaging Het
Shc4 A T 2: 125,723,333 Y15* probably null Het
Slc4a9 T C 18: 36,536,893 S722P probably damaging Het
Smarcc1 A G 9: 110,206,100 N864D probably damaging Het
Sspo T C 6: 48,455,087 L745P probably damaging Het
Syce1l A G 8: 113,654,067 D137G probably damaging Het
Tbc1d1 G T 5: 64,316,438 W768L probably damaging Het
Tmbim7 A G 5: 3,661,887 D7G probably benign Het
Tmem109 A C 19: 10,874,331 S64A probably benign Het
Tnfrsf21 A G 17: 43,039,943 R333G probably damaging Het
Ttn T G 2: 76,781,611 S17316R probably damaging Het
Usp10 A G 8: 119,954,810 T668A possibly damaging Het
Xirp2 T A 2: 67,515,562 F2716I possibly damaging 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
IGL02823:Prob1 APN 18 35652747 missense possibly damaging 0.86
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
R8260:Prob1 UTSW 18 35654157 missense possibly damaging 0.86
R8676:Prob1 UTSW 18 35653986 missense possibly damaging 0.53
X0067:Prob1 UTSW 18 35653091 missense possibly damaging 0.70
Z1088:Prob1 UTSW 18 35652769 missense possibly damaging 0.85
Posted On2016-08-02