Incidental Mutation 'R6207:Prpf40a'
ID 503171
Institutional Source Beutler Lab
Gene Symbol Prpf40a
Ensembl Gene ENSMUSG00000061136
Gene Name pre-mRNA processing factor 40A
Synonyms 2810012K09Rik, FBP11, Fnbp3
MMRRC Submission 044341-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6207 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 53024714-53081450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53047927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 197 (M197V)
Ref Sequence ENSEMBL: ENSMUSP00000147599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076313] [ENSMUST00000125243] [ENSMUST00000209364] [ENSMUST00000209508] [ENSMUST00000210789] [ENSMUST00000211102] [ENSMUST00000211712]
AlphaFold Q9R1C7
Predicted Effect probably benign
Transcript: ENSMUST00000076313
AA Change: M239V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: M239V

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 probably benign
Transcript: ENSMUST00000125243
SMART Domains Protein: ENSMUSP00000117406
Gene: ENSMUSG00000061136

DomainStartEndE-ValueType
low complexity region 35 82 N/A INTRINSIC
WW 99 131 7.54e-13 SMART
WW 140 172 1.57e-10 SMART
low complexity region 230 252 N/A INTRINSIC
FF 347 401 1.32e-17 SMART
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Predicted Effect probably benign
Transcript: ENSMUST00000210789
AA Change: M197V

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Meta Mutation Damage Score 0.0592 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik G A 7: 126,430,065 (GRCm39) P69S probably damaging Het
Abca15 A G 7: 119,973,017 (GRCm39) R864G probably benign Het
Acbd5 T C 2: 22,959,490 (GRCm39) C15R possibly damaging Het
Ahctf1 A T 1: 179,604,955 (GRCm39) probably null Het
Ak3 T A 19: 29,000,340 (GRCm39) K190N probably damaging Het
B4galnt3 A T 6: 120,183,575 (GRCm39) probably null Het
Calcrl T C 2: 84,163,874 (GRCm39) H439R probably benign Het
Casp7 T A 19: 56,429,452 (GRCm39) D279E possibly damaging Het
Cckar A G 5: 53,857,186 (GRCm39) V337A probably benign Het
Cep85l T C 10: 53,157,651 (GRCm39) Y684C probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Homo
Commd7 T C 2: 153,474,530 (GRCm39) N23S possibly damaging Het
Cpne9 A T 6: 113,271,734 (GRCm39) I365F possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dot1l C T 10: 80,622,277 (GRCm39) A831V probably benign Het
Entrep1 T C 19: 23,950,802 (GRCm39) E593G probably damaging Het
Epcam C A 17: 87,947,864 (GRCm39) N111K probably damaging Het
Etnk1 A G 6: 143,126,524 (GRCm39) Q123R probably damaging Het
Fam170a A T 18: 50,415,017 (GRCm39) E221V probably damaging Het
Fbl T C 7: 27,874,278 (GRCm39) S88P possibly damaging Het
Fbxo36 T A 1: 84,874,251 (GRCm39) Y82* probably null Het
Fer1l5 A G 1: 36,424,241 (GRCm39) K285R probably damaging Het
Foxn3 G T 12: 99,162,569 (GRCm39) T444K probably damaging Het
Gak C T 5: 108,772,895 (GRCm39) probably null Het
Gprc6a T C 10: 51,502,931 (GRCm39) I311V probably benign Het
Hrg T C 16: 22,773,288 (GRCm39) probably null Het
Htatip2 G A 7: 49,420,567 (GRCm39) V138I probably benign Het
Ighv1-4 A T 12: 114,451,142 (GRCm39) probably benign Het
Kcnq2 T C 2: 180,755,026 (GRCm39) M174V possibly damaging Het
Krt39 G T 11: 99,412,041 (GRCm39) P15Q probably damaging Het
L1td1 G A 4: 98,625,655 (GRCm39) D617N possibly damaging Het
Lgalsl T A 11: 20,779,382 (GRCm39) K88* probably null Het
Lims1 A T 10: 58,230,386 (GRCm39) K49M possibly damaging Het
Man2a1 T C 17: 65,020,600 (GRCm39) V792A probably benign Het
Mcm2 G T 6: 88,862,844 (GRCm39) D749E probably benign Het
Mdga1 G A 17: 30,057,491 (GRCm39) T775M probably damaging Het
Myb A G 10: 21,021,221 (GRCm39) S403P probably benign Het
Nek6 T C 2: 38,447,846 (GRCm39) S37P possibly damaging Het
Or10d1b T C 9: 39,613,606 (GRCm39) H153R probably benign Het
Or14c46 A C 7: 85,918,968 (GRCm39) F10V probably damaging Het
Or52a33 A G 7: 103,289,209 (GRCm39) V46A probably benign Het
Or56b2j G A 7: 104,352,818 (GRCm39) V15M probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Prune2 T A 19: 17,095,480 (GRCm39) I328N probably damaging Het
Psap T A 10: 60,136,317 (GRCm39) C484S probably damaging Het
Pus1 T C 5: 110,925,580 (GRCm39) D80G probably benign Het
Rasa3 T C 8: 13,648,251 (GRCm39) T138A possibly damaging Het
Scaf1 G T 7: 44,657,047 (GRCm39) probably benign Het
Skap1 T A 11: 96,594,959 (GRCm39) Y143* probably null Het
Slc22a20 A G 19: 6,035,969 (GRCm39) L67P probably damaging Het
Slc25a17 T C 15: 81,213,265 (GRCm39) Y146C probably damaging Het
Slfn4 C T 11: 83,079,951 (GRCm39) T154I possibly damaging Het
Snai1 T A 2: 167,380,229 (GRCm39) V7D probably damaging Het
Snrnp200 T A 2: 127,052,655 (GRCm39) M84K probably benign Het
Spop G T 11: 95,362,063 (GRCm39) K31N possibly damaging Het
Surf1 T C 2: 26,804,819 (GRCm39) T145A probably benign Het
Tbkbp1 T C 11: 97,037,165 (GRCm39) E278G probably damaging Het
Thumpd2 G A 17: 81,363,266 (GRCm39) A67V probably damaging Het
Timd4 A T 11: 46,706,353 (GRCm39) M52L probably damaging Het
Trav16 A T 14: 53,981,045 (GRCm39) N78I probably damaging Het
Tspan12 T C 6: 21,799,907 (GRCm39) T147A probably damaging Het
Tulp1 A T 17: 28,577,651 (GRCm39) probably benign Het
Ubqlnl A T 7: 103,797,915 (GRCm39) N527K possibly damaging Het
Ubr4 G A 4: 139,148,559 (GRCm39) C1681Y probably damaging Het
Unc13c T C 9: 73,665,910 (GRCm39) K1037E possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r4 G A 3: 64,313,926 (GRCm39) H352Y probably damaging Het
Vmn2r61 A T 7: 41,909,616 (GRCm39) H47L probably benign Het
Vwa5a A G 9: 38,633,968 (GRCm39) E57G probably damaging Het
Zfp180 A T 7: 23,804,510 (GRCm39) R310* probably null Het
Zfp672 T C 11: 58,208,349 (GRCm39) probably benign Het
Other mutations in Prpf40a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Prpf40a APN 2 53,040,700 (GRCm39) missense probably benign 0.00
IGL00533:Prpf40a APN 2 53,035,355 (GRCm39) missense probably damaging 1.00
IGL01099:Prpf40a APN 2 53,031,847 (GRCm39) missense probably benign 0.00
IGL02039:Prpf40a APN 2 53,034,815 (GRCm39) missense probably damaging 1.00
IGL02608:Prpf40a APN 2 53,036,165 (GRCm39) missense probably damaging 0.97
I1329:Prpf40a UTSW 2 53,066,407 (GRCm39) missense probably benign 0.01
R0284:Prpf40a UTSW 2 53,040,659 (GRCm39) missense probably damaging 1.00
R0401:Prpf40a UTSW 2 53,049,325 (GRCm39) missense probably damaging 0.99
R0544:Prpf40a UTSW 2 53,031,663 (GRCm39) unclassified probably benign
R0582:Prpf40a UTSW 2 53,035,704 (GRCm39) missense probably damaging 1.00
R1533:Prpf40a UTSW 2 53,035,852 (GRCm39) missense probably damaging 1.00
R2057:Prpf40a UTSW 2 53,034,851 (GRCm39) missense probably damaging 1.00
R4274:Prpf40a UTSW 2 53,036,184 (GRCm39) missense probably damaging 1.00
R4604:Prpf40a UTSW 2 53,032,035 (GRCm39) missense probably damaging 0.99
R4814:Prpf40a UTSW 2 53,080,032 (GRCm39) missense probably damaging 1.00
R4976:Prpf40a UTSW 2 53,034,861 (GRCm39) missense probably damaging 1.00
R5119:Prpf40a UTSW 2 53,034,861 (GRCm39) missense probably damaging 1.00
R5378:Prpf40a UTSW 2 53,035,888 (GRCm39) missense probably damaging 1.00
R5448:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5449:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5450:Prpf40a UTSW 2 53,046,938 (GRCm39) missense possibly damaging 0.63
R5500:Prpf40a UTSW 2 53,035,296 (GRCm39) missense probably benign 0.03
R5637:Prpf40a UTSW 2 53,046,746 (GRCm39) missense possibly damaging 0.59
R6052:Prpf40a UTSW 2 53,049,293 (GRCm39) missense probably benign 0.41
R6149:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6150:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6151:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6162:Prpf40a UTSW 2 53,049,317 (GRCm39) missense probably benign 0.01
R6199:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6200:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6254:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R6266:Prpf40a UTSW 2 53,046,639 (GRCm39) missense probably benign 0.17
R6394:Prpf40a UTSW 2 53,034,890 (GRCm39) missense probably damaging 1.00
R6603:Prpf40a UTSW 2 53,042,975 (GRCm39) missense probably damaging 0.96
R6606:Prpf40a UTSW 2 53,041,763 (GRCm39) missense probably damaging 0.99
R6641:Prpf40a UTSW 2 53,031,638 (GRCm39) unclassified probably benign
R6929:Prpf40a UTSW 2 53,034,875 (GRCm39) missense possibly damaging 0.95
R7158:Prpf40a UTSW 2 53,042,565 (GRCm39) missense probably damaging 0.99
R7401:Prpf40a UTSW 2 53,046,959 (GRCm39) missense probably benign 0.01
R7675:Prpf40a UTSW 2 53,035,648 (GRCm39) missense possibly damaging 0.89
R7750:Prpf40a UTSW 2 53,041,757 (GRCm39) missense probably damaging 1.00
R7893:Prpf40a UTSW 2 53,046,853 (GRCm39) missense probably benign 0.24
R8027:Prpf40a UTSW 2 53,081,150 (GRCm39) missense probably benign 0.01
R8817:Prpf40a UTSW 2 53,042,971 (GRCm39) missense probably damaging 0.99
R8829:Prpf40a UTSW 2 53,047,927 (GRCm39) missense probably benign 0.07
R8964:Prpf40a UTSW 2 53,035,906 (GRCm39) missense probably damaging 1.00
R9101:Prpf40a UTSW 2 53,035,255 (GRCm39) missense probably benign 0.07
R9411:Prpf40a UTSW 2 53,029,200 (GRCm39) missense unknown
R9699:Prpf40a UTSW 2 53,035,735 (GRCm39) missense probably benign 0.02
X0060:Prpf40a UTSW 2 53,035,676 (GRCm39) missense probably damaging 0.96
Z1176:Prpf40a UTSW 2 53,034,887 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGTAAGGCTCAGGAAGTCAAG -3'
(R):5'- TTGCATTGAGGCTTTGAAACTC -3'

Sequencing Primer
(F):5'- CAACATACGCAAGGCTGTGGTTC -3'
(R):5'- TGAGGCTTTGAAACTCAAGTAAATAC -3'
Posted On 2018-02-27