Incidental Mutation 'IGL01346:Proser3'
ID75043
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Proser3
Ensembl Gene ENSMUSG00000036864
Gene Nameproline and serine rich 3
SynonymsBC053749
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL01346
Quality Score
Status
Chromosome7
Chromosomal Location30539134-30552299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 30549646 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 7 (N7S)
Ref Sequence ENSEMBL: ENSMUSP00000148912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044048] [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000153594] [ENSMUST00000215288]
Predicted Effect probably benign
Transcript: ENSMUST00000044048
SMART Domains Protein: ENSMUSP00000039172
Gene: ENSMUSG00000036854

DomainStartEndE-ValueType
Pfam:Crystallin 1 62 4.4e-24 PFAM
Pfam:HSP20 66 158 5.6e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000062708
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
low complexity region 388 407 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108165
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
low complexity region 128 140 N/A INTRINSIC
low complexity region 152 163 N/A INTRINSIC
low complexity region 179 202 N/A INTRINSIC
low complexity region 351 365 N/A INTRINSIC
low complexity region 369 383 N/A INTRINSIC
low complexity region 388 407 N/A INTRINSIC
low complexity region 599 614 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146732
Predicted Effect probably benign
Transcript: ENSMUST00000153594
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000123095
Gene: ENSMUSG00000036864
AA Change: N7S

DomainStartEndE-ValueType
low complexity region 33 56 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208706
Predicted Effect probably benign
Transcript: ENSMUST00000215288
AA Change: N7S

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik A G 2: 150,311,060 V135A unknown Het
4930402H24Rik A G 2: 130,791,846 probably benign Het
Cnot4 A T 6: 35,070,248 I143N probably damaging Het
Cnot6l A T 5: 96,086,246 M302K probably damaging Het
Dmxl2 T C 9: 54,415,475 T1542A probably damaging Het
Dnhd1 T C 7: 105,713,909 S3893P probably benign Het
Duox2 A T 2: 122,287,202 probably benign Het
Dusp1 T C 17: 26,506,321 N355D probably benign Het
Fam76b T C 9: 13,829,750 C60R probably damaging Het
Gnptab G A 10: 88,436,179 V944I possibly damaging Het
Gys1 A G 7: 45,442,537 Y249C probably damaging Het
Ift88 A T 14: 57,444,405 E215D probably damaging Het
Kcnu1 T C 8: 25,934,523 probably benign Het
Lmln C A 16: 33,117,120 N618K probably benign Het
Lrrc75a T C 11: 62,605,987 T250A probably damaging Het
Mpp4 A G 1: 59,125,560 S435P probably damaging Het
Myo1c T A 11: 75,672,250 V1036E probably damaging Het
Nlrp12 T G 7: 3,240,686 T399P probably damaging Het
Olfr1223 A G 2: 89,144,231 F264S possibly damaging Het
Olfr1388 A G 11: 49,444,768 R306G probably benign Het
Parp8 A T 13: 116,895,064 C332S possibly damaging Het
Pdcd11 G A 19: 47,109,614 V780I probably benign Het
Plekha5 A G 6: 140,534,566 probably benign Het
Ppt1 T A 4: 122,844,055 I62K probably damaging Het
Ptk2b A G 14: 66,177,118 L311P possibly damaging Het
Rasal2 T C 1: 157,161,216 N706S probably benign Het
Ripk2 A G 4: 16,132,775 probably null Het
Setx T A 2: 29,144,809 H435Q probably damaging Het
Smurf2 T A 11: 106,830,915 probably benign Het
Snx32 A G 19: 5,497,736 L182P possibly damaging Het
Stpg2 A G 3: 139,419,874 probably benign Het
Taar2 A G 10: 23,941,099 Y179C probably damaging Het
Tenm2 G A 11: 36,027,405 R1843* probably null Het
Tmco4 T C 4: 139,020,949 I280T probably damaging Het
Tuba4a C A 1: 75,217,277 C46F probably damaging Het
Ubr1 A G 2: 120,873,122 probably null Het
Vldlr A T 19: 27,239,681 I45L possibly damaging Het
Vmn2r120 C A 17: 57,545,232 G28V probably benign Het
Vmn2r37 C A 7: 9,206,681 V611L probably benign Het
Vmn2r67 A G 7: 85,136,919 L626P probably damaging Het
Wdr19 C T 5: 65,221,739 probably benign Het
Zfp595 T A 13: 67,316,685 K505* probably null Het
Other mutations in Proser3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00533:Proser3 APN 7 30540671 missense possibly damaging 0.62
IGL02465:Proser3 APN 7 30543533 missense possibly damaging 0.87
IGL03178:Proser3 APN 7 30543609 missense probably damaging 0.99
IGL03372:Proser3 APN 7 30543568 missense probably damaging 1.00
K3955:Proser3 UTSW 7 30543499 missense probably damaging 0.96
R0008:Proser3 UTSW 7 30540138 missense probably damaging 0.99
R0008:Proser3 UTSW 7 30540138 missense probably damaging 0.99
R0255:Proser3 UTSW 7 30546417 missense probably damaging 1.00
R0627:Proser3 UTSW 7 30540783 missense probably benign 0.04
R0702:Proser3 UTSW 7 30539530 missense probably benign 0.00
R0883:Proser3 UTSW 7 30540699 missense probably damaging 0.99
R1185:Proser3 UTSW 7 30546147 missense probably benign 0.01
R1457:Proser3 UTSW 7 30539747 critical splice donor site probably null
R1650:Proser3 UTSW 7 30540326 missense probably damaging 0.99
R1697:Proser3 UTSW 7 30540021 missense probably benign 0.00
R3121:Proser3 UTSW 7 30540371 missense probably benign 0.10
R4210:Proser3 UTSW 7 30546100 intron probably benign
R4375:Proser3 UTSW 7 30540671 missense possibly damaging 0.62
R5364:Proser3 UTSW 7 30546148 missense possibly damaging 0.60
R6225:Proser3 UTSW 7 30543728 missense probably damaging 1.00
R6831:Proser3 UTSW 7 30540356 missense probably benign
R7151:Proser3 UTSW 7 30540324 missense possibly damaging 0.79
X0028:Proser3 UTSW 7 30540762 missense probably damaging 0.99
Z31818:Proser3 UTSW 7 30546365 missense possibly damaging 0.85
Posted On2013-10-07