Incidental Mutation 'IGL00533:Proser3'
ID6291
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: 0.068) question?
Stock #IGL00533
Quality Score
Status
Chromosome7
Chromosomal Location30539134-30552299 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30540671 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 336 (V336A)
Ref Sequence ENSEMBL: ENSMUSP00000148912 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062708] [ENSMUST00000108165] [ENSMUST00000215288]
Predicted Effect possibly damaging
Transcript: ENSMUST00000062708
AA Change: V336A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000059135
Gene: ENSMUSG00000036864
AA Change: V336A

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 possibly damaging
Transcript: ENSMUST00000108165
AA Change: V336A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103800
Gene: ENSMUSG00000036864
AA Change: V336A

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: ENSMUST00000134113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208842
Predicted Effect possibly damaging
Transcript: ENSMUST00000215288
AA Change: V336A

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A T 16: 31,139,475 L175Q probably damaging Het
Akna A T 4: 63,397,873 probably null Het
Arhgef38 C T 3: 133,116,459 W181* probably null Het
Gm5581 A T 6: 131,167,641 noncoding transcript Het
Hyls1 G T 9: 35,561,924 Y65* probably null Het
Map1b A G 13: 99,432,604 I1203T unknown Het
Met C T 6: 17,534,937 probably benign Het
Pcdh15 A G 10: 74,502,720 T1065A probably damaging Het
Prpf40a G A 2: 53,145,343 R729C probably damaging Het
Ptprk A G 10: 28,585,975 E1152G probably damaging Het
Scn11a A C 9: 119,774,381 D1073E probably damaging Het
Spsb3 C T 17: 24,890,565 probably benign Het
Other mutations in Proser3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01346:Proser3 APN 7 30549646 missense probably benign 0.21
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
R7707:Proser3 UTSW 7 30539791 missense probably benign 0.27
R7748:Proser3 UTSW 7 30540072 missense possibly damaging 0.90
R7923:Proser3 UTSW 7 30549661 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 On2012-04-20