Incidental Mutation 'IGL01526:Prdm11'
ID89561
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prdm11
Ensembl Gene ENSMUSG00000075028
Gene NamePR domain containing 11
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.649) question?
Stock #IGL01526
Quality Score
Status
Chromosome2
Chromosomal Location92965151-93046167 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 93012757 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 119 (V119A)
Ref Sequence ENSEMBL: ENSMUSP00000136795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111272] [ENSMUST00000111274] [ENSMUST00000147339] [ENSMUST00000178666]
Predicted Effect probably damaging
Transcript: ENSMUST00000111272
AA Change: V71A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106903
Gene: ENSMUSG00000075028
AA Change: V71A

DomainStartEndE-ValueType
SANT 147 217 3.94e-3 SMART
low complexity region 291 312 N/A INTRINSIC
low complexity region 434 448 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111274
AA Change: V119A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106905
Gene: ENSMUSG00000075028
AA Change: V119A

DomainStartEndE-ValueType
SET 115 232 5.16e-2 SMART
low complexity region 369 380 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130441
Predicted Effect probably damaging
Transcript: ENSMUST00000147339
AA Change: V119A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122809
Gene: ENSMUSG00000075028
AA Change: V119A

DomainStartEndE-ValueType
PDB:3RAY|A 45 162 4e-80 PDB
Blast:SET 92 162 6e-41 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000178666
AA Change: V119A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136795
Gene: ENSMUSG00000075028
AA Change: V119A

DomainStartEndE-ValueType
SET 115 232 5.16e-2 SMART
low complexity region 369 380 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500002C15Rik G T 4: 155,734,171 probably benign Het
4933430I17Rik G T 4: 62,532,621 R107L possibly damaging Het
9130204L05Rik T A 3: 91,088,305 probably benign Het
Acvr1 A T 2: 58,458,985 D388E probably benign Het
Art3 T C 5: 92,414,340 S354P probably damaging Het
Bpnt1 C A 1: 185,345,394 S102* probably null Het
C530008M17Rik T A 5: 76,857,631 M613K unknown Het
Ces1a G T 8: 93,045,098 P24T probably damaging Het
Cfap65 A T 1: 74,911,078 S1171T probably damaging Het
Csn2 T C 5: 87,694,979 H47R possibly damaging Het
Gm14496 T A 2: 181,995,665 D177E probably benign Het
Hmbs A G 9: 44,339,548 V126A possibly damaging Het
Ica1l A G 1: 60,015,757 M105T probably damaging Het
Morc2a G A 11: 3,650,428 E17K probably benign Het
Mroh8 T C 2: 157,238,312 probably benign Het
Mroh9 G T 1: 163,055,603 L436I probably damaging Het
Nup54 T C 5: 92,417,475 D461G probably benign Het
Olfr1123 A T 2: 87,418,975 D309V probably damaging Het
Olfr315 A G 11: 58,778,297 T57A probably benign Het
Pcid2 G A 8: 13,085,319 probably benign Het
Ppp1r3b G T 8: 35,384,718 R237L probably benign Het
Serpina5 T A 12: 104,101,890 V70E probably damaging Het
Skap2 C T 6: 51,907,914 D249N probably benign Het
Slc22a29 A T 19: 8,207,178 probably benign Het
Slc4a1ap C A 5: 31,528,227 T283K possibly damaging Het
Slc6a21 T G 7: 45,287,796 I575S probably damaging Het
Smpd1 T G 7: 105,554,775 W82G probably benign Het
Snx14 T A 9: 88,381,500 M897L probably damaging Het
Tjp1 A G 7: 65,322,658 V586A probably damaging Het
Tmc8 T C 11: 117,792,084 probably benign Het
Trim34a A G 7: 104,260,499 Y298C probably damaging Het
Ube3c T C 5: 29,667,962 V1000A probably damaging Het
Other mutations in Prdm11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02108:Prdm11 APN 2 92975703 missense probably damaging 1.00
IGL02166:Prdm11 APN 2 93012863 missense probably damaging 1.00
IGL02369:Prdm11 APN 2 92975519 missense probably benign 0.00
IGL02388:Prdm11 APN 2 92975612 missense possibly damaging 0.90
IGL02606:Prdm11 APN 2 92975603 missense probably benign 0.02
IGL02967:Prdm11 APN 2 93012889 missense probably damaging 1.00
IGL03085:Prdm11 APN 2 92974959 missense possibly damaging 0.86
IGL03125:Prdm11 APN 2 92980622 missense probably benign 0.22
E0370:Prdm11 UTSW 2 92980579 missense probably damaging 1.00
R0607:Prdm11 UTSW 2 93013785 missense possibly damaging 0.85
R0964:Prdm11 UTSW 2 92989222 intron probably benign
R4011:Prdm11 UTSW 2 93012830 missense probably damaging 1.00
R4298:Prdm11 UTSW 2 92993383 missense probably benign 0.44
R4951:Prdm11 UTSW 2 92980609 missense probably damaging 1.00
R5150:Prdm11 UTSW 2 92975472 missense probably damaging 1.00
R5320:Prdm11 UTSW 2 93012881 missense probably benign 0.00
R5432:Prdm11 UTSW 2 92975813 missense probably benign 0.00
R6442:Prdm11 UTSW 2 92975645 missense probably benign 0.34
R6754:Prdm11 UTSW 2 93013792 missense probably damaging 1.00
R7403:Prdm11 UTSW 2 92986691 missense probably benign
R7480:Prdm11 UTSW 2 92975324 missense probably benign 0.05
R7497:Prdm11 UTSW 2 93012707 missense possibly damaging 0.93
R7633:Prdm11 UTSW 2 92980654 missense probably damaging 1.00
R7873:Prdm11 UTSW 2 92989283 missense probably benign 0.01
R7936:Prdm11 UTSW 2 92975761 missense possibly damaging 0.67
R7939:Prdm11 UTSW 2 93012729 missense probably damaging 1.00
Posted On2013-12-03