Incidental Mutation 'R6266:Prpf40a'
ID 506989
Institutional Source Beutler Lab
Gene Symbol Prpf40a
Ensembl Gene ENSMUSG00000061136
Gene Name pre-mRNA processing factor 40A
Synonyms 2810012K09Rik, FBP11, Fnbp3
MMRRC Submission 044378-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6266 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 53024714-53081450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53046639 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 324 (S324T)
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: S366T

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000075655
Gene: ENSMUSG00000061136
AA Change: S366T

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 probably benign
Transcript: ENSMUST00000209364
AA Change: S339T

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000209508
Predicted Effect probably benign
Transcript: ENSMUST00000210789
AA Change: S324T

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000211102
Predicted Effect probably benign
Transcript: ENSMUST00000211712
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 98.8%
  • 20x: 96.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,320,206 (GRCm39) T295A probably benign Het
Aldh2 C A 5: 121,706,997 (GRCm39) V217L probably damaging Het
Arap3 G A 18: 38,123,844 (GRCm39) R392C probably damaging Het
Aurkaip1 T G 4: 155,916,977 (GRCm39) L75R probably damaging Het
Blm C A 7: 80,149,688 (GRCm39) K640N probably benign Het
Brap A T 5: 121,823,328 (GRCm39) T487S probably benign Het
Ccser2 G A 14: 36,601,632 (GRCm39) P276L probably damaging Het
Cdc42bpg A G 19: 6,361,503 (GRCm39) E343G probably damaging Het
Cecr2 A G 6: 120,738,647 (GRCm39) S1097G probably benign Het
D7Ertd443e A T 7: 133,951,514 (GRCm39) V53D probably damaging Het
Ddx3y G A Y: 1,266,635 (GRCm39) T274I probably damaging Homo
Dnah5 T A 15: 28,335,773 (GRCm39) F2246L possibly damaging Het
Dock3 T A 9: 106,841,952 (GRCm39) H959L probably damaging Het
Dpy19l1 A G 9: 24,350,442 (GRCm39) S406P probably damaging Het
Efcab8 T C 2: 153,625,688 (GRCm39) L116P probably damaging Het
Efnb2 T C 8: 8,710,524 (GRCm39) I31V probably benign Het
Fbxl12 A T 9: 20,549,911 (GRCm39) L271Q probably damaging Het
Fmn1 T A 2: 113,426,683 (GRCm39) N1133K probably damaging Het
Frmpd2 T C 14: 33,287,864 (GRCm39) S1219P probably benign Het
Gm7298 A T 6: 121,759,663 (GRCm39) R1187S probably damaging Het
H6pd T C 4: 150,080,414 (GRCm39) I136V probably benign Het
Hyal2 A G 9: 107,447,914 (GRCm39) N189S probably benign Het
Jmjd1c C T 10: 67,085,439 (GRCm39) P2410S probably damaging Het
Larp1 A G 11: 57,933,089 (GRCm39) D231G probably damaging Het
Lilra5 T A 7: 4,244,927 (GRCm39) S233T possibly damaging Het
Lrrc43 T C 5: 123,641,340 (GRCm39) F508S probably damaging Het
Marchf4 T C 1: 72,491,647 (GRCm39) Y208C probably damaging Het
Mtarc2 T C 1: 184,566,140 (GRCm39) R85G probably damaging Het
Nr1h2 A T 7: 44,201,476 (GRCm39) C45* probably null Het
Or10ag2 T A 2: 87,249,350 (GRCm39) S319R probably benign Het
Or2n1e A G 17: 38,586,039 (GRCm39) I126V probably benign Het
Ppp2r5d G T 17: 46,996,629 (GRCm39) probably null Het
Psmb7 T C 2: 38,530,199 (GRCm39) D94G probably damaging Het
Psmd11 A G 11: 80,336,767 (GRCm39) T140A probably benign Het
Pygm T C 19: 6,448,169 (GRCm39) I737T probably damaging Het
Rbp3 G A 14: 33,676,418 (GRCm39) R122H probably benign Het
Relch T G 1: 105,659,007 (GRCm39) probably null Het
Rrp8 T C 7: 105,385,596 (GRCm39) E3G probably damaging Het
Sacm1l T C 9: 123,371,485 (GRCm39) S37P probably damaging Het
Slc12a3 A G 8: 95,085,099 (GRCm39) R939G possibly damaging Het
Slc20a1 T C 2: 129,051,814 (GRCm39) S608P possibly damaging Het
Sntg1 T C 1: 8,624,953 (GRCm39) Q281R possibly damaging Het
Spata31d1e C T 13: 59,890,126 (GRCm39) V147I probably benign Het
Tefm A G 11: 80,028,814 (GRCm39) L194P probably damaging Het
Terf2ip T A 8: 112,738,547 (GRCm39) V145E probably damaging Het
Tmem231 T A 8: 112,641,897 (GRCm39) E219V probably null Het
Tmx3 T A 18: 90,555,334 (GRCm39) probably null Het
Tns3 G A 11: 8,442,987 (GRCm39) P459S probably damaging Het
Trav13d-1 T A 14: 53,089,220 (GRCm39) S76R probably benign Het
Trp63 A G 16: 25,681,210 (GRCm39) N254S probably damaging Het
Tsen34 A G 7: 3,696,984 (GRCm39) probably benign Het
Unc13d A G 11: 115,959,064 (GRCm39) V701A probably damaging Het
Usp36 A G 11: 118,159,411 (GRCm39) S513P probably damaging Het
Uspl1 T A 5: 149,141,176 (GRCm39) S392T probably damaging Het
Vmn2r102 T A 17: 19,899,007 (GRCm39) C450S probably benign Het
Zfp128 T C 7: 12,624,897 (GRCm39) Y422H possibly damaging Het
Zkscan7 C T 9: 122,724,299 (GRCm39) Q423* probably null 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
R6207: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
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'- GCCACACCCTATACTCAGTG -3'
(R):5'- TTGCTCCTGAACCTGAGGTTAC -3'

Sequencing Primer
(F):5'- TCAGTGCAAATCAACGTAAGATC -3'
(R):5'- TGAACCTGAGGTTACTTCCATTG -3'
Posted On 2018-03-15