Incidental Mutation 'IGL01099:Prpf40a'
ID50502
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf40a
Ensembl Gene ENSMUSG00000061136
Gene Namepre-mRNA processing factor 40A
SynonymsFnbp3, FBP11, 2810012K09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01099
Quality Score
Status
Chromosome2
Chromosomal Location53134704-53191284 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 53141835 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 794 (H794L)
Ref Sequence ENSEMBL: ENSMUSP00000147599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000209364] [ENSMUST00000210789] [ENSMUST00000211712]
Predicted Effect unknown
Transcript: ENSMUST00000076313
AA Change: H836L
SMART Domains Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: H836L

DomainStartEndE-ValueType
low complexity region 77 124 N/A INTRINSIC
WW 141 173 7.54e-13 SMART
WW 182 214 1.57e-10 SMART
low complexity region 272 294 N/A INTRINSIC
FF 389 443 1.32e-17 SMART
FF 456 515 4.22e1 SMART
FF 523 583 1.11e-10 SMART
FF 603 663 4.31e0 SMART
low complexity region 670 682 N/A INTRINSIC
FF 739 795 7.43e-12 SMART
low complexity region 802 879 N/A INTRINSIC
low complexity region 883 923 N/A INTRINSIC
low complexity region 929 939 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133384
Predicted Effect unknown
Transcript: ENSMUST00000209364
AA Change: H809L
Predicted Effect probably benign
Transcript: ENSMUST00000210789
AA Change: H794L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik A T 13: 105,109,360 H143L probably benign Het
Abca8a G A 11: 110,074,205 probably benign Het
Adam28 A G 14: 68,637,329 probably null Het
Adcy10 A G 1: 165,539,842 I560M probably benign Het
Alpl G A 4: 137,743,313 probably benign Het
Ank1 G A 8: 23,108,249 G753D probably damaging Het
Arhgef28 A T 13: 97,953,972 probably benign Het
Bmp7 A T 2: 172,875,262 C329S probably damaging Het
Capn13 T C 17: 73,351,509 D188G probably damaging Het
Car10 G A 11: 93,578,690 E164K possibly damaging Het
Cfhr1 T A 1: 139,547,759 probably benign Het
Col11a1 C T 3: 114,112,041 R562* probably null Het
Colec12 C T 18: 9,848,826 R335C probably damaging Het
Cyb561d2 C T 9: 107,540,289 probably null Het
D430042O09Rik T A 7: 125,865,320 H1286Q probably damaging Het
Epb41l3 A G 17: 69,210,193 D72G possibly damaging Het
Etl4 T C 2: 20,807,111 L1335P probably benign Het
F5 T G 1: 164,194,334 N1459K probably damaging Het
Fam161a T C 11: 23,015,894 probably benign Het
Flnc G A 6: 29,433,618 V54M probably damaging Het
Fndc3b T C 3: 27,463,817 I607V probably benign Het
Fscb A G 12: 64,472,101 S864P unknown Het
Glod4 T A 11: 76,239,550 K36* probably null Het
Gm6619 G A 6: 131,490,430 R86Q possibly damaging Het
Gm7052 T C 17: 22,039,725 probably benign Het
Gyg A T 3: 20,151,047 M119K probably benign Het
Ifit2 A T 19: 34,573,302 I81F probably damaging Het
Insr T C 8: 3,258,682 Y118C probably damaging Het
Kcnh3 T C 15: 99,239,736 S771P probably benign Het
Kndc1 C A 7: 139,920,784 H688Q probably damaging Het
Mybpc2 A G 7: 44,516,167 C330R probably damaging Het
Naa50 A T 16: 44,156,469 N23I probably damaging Het
Olfr544 T A 7: 102,484,478 D214V probably damaging Het
Olfr76 A G 19: 12,119,876 S279P probably damaging Het
Olfr894 T C 9: 38,219,743 S307P probably benign Het
Olfr912 T C 9: 38,582,077 S267P probably benign Het
Pfkp A T 13: 6,603,390 probably benign Het
Phlda2 G A 7: 143,502,139 probably null Het
Plxnd1 C A 6: 115,969,945 V823L probably benign Het
Ppil2 T A 16: 17,091,212 M368L probably damaging Het
Ripor2 A T 13: 24,701,207 H436L probably benign Het
Rnf138 T A 18: 21,020,913 C159S possibly damaging Het
Scn7a A T 2: 66,684,238 V1064D probably damaging Het
Slc12a2 T A 18: 57,906,020 C557* probably null Het
Slc1a6 T C 10: 78,788,997 S79P possibly damaging Het
Snapin G A 3: 90,490,602 probably benign Het
Tdp1 A T 12: 99,915,445 probably benign Het
Tigar G T 6: 127,088,145 A180E probably benign Het
Trav6-2 A T 14: 52,667,665 T48S probably benign Het
Ttn A G 2: 76,728,432 Y29702H probably damaging Het
Ush1c A G 7: 46,205,262 S689P probably damaging Het
Vmn1r40 A T 6: 89,714,596 I132F probably damaging Het
Vmn1r85 T A 7: 13,084,534 K228* probably null Het
Wdr33 C A 18: 31,906,789 probably benign Het
Ybx2 A T 11: 69,940,730 Q136L probably damaging Het
Other mutations in Prpf40a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Prpf40a APN 2 53150688 missense probably benign 0.00
IGL00533:Prpf40a APN 2 53145343 missense probably damaging 1.00
IGL02039:Prpf40a APN 2 53144803 missense probably damaging 1.00
IGL02608:Prpf40a APN 2 53146153 missense probably damaging 0.97
I1329:Prpf40a UTSW 2 53176395 missense probably benign 0.01
R0284:Prpf40a UTSW 2 53150647 missense probably damaging 1.00
R0401:Prpf40a UTSW 2 53159313 missense probably damaging 0.99
R0544:Prpf40a UTSW 2 53141651 unclassified probably benign
R0582:Prpf40a UTSW 2 53145692 missense probably damaging 1.00
R1533:Prpf40a UTSW 2 53145840 missense probably damaging 1.00
R2057:Prpf40a UTSW 2 53144839 missense probably damaging 1.00
R4274:Prpf40a UTSW 2 53146172 missense probably damaging 1.00
R4604:Prpf40a UTSW 2 53142023 missense probably damaging 0.99
R4814:Prpf40a UTSW 2 53190020 missense probably damaging 1.00
R4976:Prpf40a UTSW 2 53144849 missense probably damaging 1.00
R5119:Prpf40a UTSW 2 53144849 missense probably damaging 1.00
R5378:Prpf40a UTSW 2 53145876 missense probably damaging 1.00
R5448:Prpf40a UTSW 2 53156926 missense possibly damaging 0.63
R5449:Prpf40a UTSW 2 53156926 missense possibly damaging 0.63
R5450:Prpf40a UTSW 2 53156926 missense possibly damaging 0.63
R5500:Prpf40a UTSW 2 53145284 missense probably benign 0.03
R5637:Prpf40a UTSW 2 53156734 missense possibly damaging 0.59
R6052:Prpf40a UTSW 2 53159281 missense probably benign 0.41
R6149:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6150:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6151:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6162:Prpf40a UTSW 2 53159305 missense probably benign 0.01
R6199:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6200:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6207:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6254:Prpf40a UTSW 2 53157915 missense probably benign 0.07
R6266:Prpf40a UTSW 2 53156627 missense probably benign 0.17
R6394:Prpf40a UTSW 2 53144878 missense probably damaging 1.00
R6603:Prpf40a UTSW 2 53152963 missense probably damaging 0.96
R6606:Prpf40a UTSW 2 53151751 missense probably damaging 0.99
R6641:Prpf40a UTSW 2 53141626 unclassified probably benign
R6929:Prpf40a UTSW 2 53144863 missense possibly damaging 0.95
R7158:Prpf40a UTSW 2 53152553 missense probably damaging 0.99
R7401:Prpf40a UTSW 2 53156947 missense probably benign 0.01
R7675:Prpf40a UTSW 2 53145636 missense possibly damaging 0.89
R7750:Prpf40a UTSW 2 53151745 missense probably damaging 1.00
X0060:Prpf40a UTSW 2 53145664 missense probably damaging 0.96
Posted On2013-06-21