Incidental Mutation 'R2233:Sf3a2'
ID 240194
Institutional Source Beutler Lab
Gene Symbol Sf3a2
Ensembl Gene ENSMUSG00000020211
Gene Name splicing factor 3a, subunit 2
Synonyms SFA66, Sap62, PRP11, 66kDa
MMRRC Submission 040234-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock # R2233 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 80798198-80804924 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80802829 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 95 (A95S)
Ref Sequence ENSEMBL: ENSMUSP00000117160 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036016] [ENSMUST00000036805] [ENSMUST00000147440] [ENSMUST00000148665] [ENSMUST00000151928] [ENSMUST00000218209] [ENSMUST00000219378]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000036016
SMART Domains Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 38 52 N/A INTRINSIC
Pfam:AMH_N 75 439 3e-133 PFAM
TGFB 456 554 8.57e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000036805
SMART Domains Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278

DomainStartEndE-ValueType
PH 16 110 1.48e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139461
Predicted Effect probably benign
Transcript: ENSMUST00000147440
SMART Domains Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
Blast:CactinC_cactus 41 67 1e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000148665
AA Change: A95S

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: A95S

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
ZnF_U1 51 85 5.02e-9 SMART
ZnF_C2H2 54 78 1.23e1 SMART
CactinC_cactus 91 219 8.29e-35 SMART
low complexity region 300 318 N/A INTRINSIC
low complexity region 320 420 N/A INTRINSIC
low complexity region 423 452 N/A INTRINSIC
low complexity region 459 484 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151928
AA Change: A95S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211
AA Change: A95S

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
ZnF_U1 51 85 5.02e-9 SMART
ZnF_C2H2 54 78 1.23e1 SMART
CactinC_cactus 91 194 1.26e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217735
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218036
Predicted Effect probably benign
Transcript: ENSMUST00000218209
Predicted Effect probably benign
Transcript: ENSMUST00000219378
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220002
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 A G 1: 63,545,512 I360V probably benign Het
Adarb1 A G 10: 77,317,349 V322A probably damaging Het
Atad2b T G 12: 5,006,745 F867C probably damaging Het
Ccdc24 T C 4: 117,869,916 K79R possibly damaging Het
Cfap44 A G 16: 44,451,525 I1214V probably benign Het
Chrm4 A G 2: 91,928,530 S428G probably benign Het
Chrnb1 A T 11: 69,795,602 I64N probably damaging Het
Crh A T 3: 19,693,932 M182K probably damaging Het
Dazap1 A G 10: 80,277,599 K110E possibly damaging Het
Dhx16 T C 17: 35,887,886 C737R probably damaging Het
Dst A G 1: 34,274,262 E6384G probably damaging Het
Dync1i2 C T 2: 71,249,420 Q419* probably null Het
E2f4 T A 8: 105,298,651 V121E probably damaging Het
Enah G A 1: 181,921,972 P415L probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Fezf1 T C 6: 23,246,003 T388A probably damaging Het
Gimap6 T A 6: 48,704,484 H72L possibly damaging Het
Gm11149 A G 9: 49,562,146 probably benign Het
Gm12695 C T 4: 96,724,029 R499Q probably damaging Het
Grhl1 A G 12: 24,608,511 D385G probably damaging Het
Hyou1 C T 9: 44,389,091 T855M probably benign Het
Igf1r T A 7: 68,212,080 N1129K probably damaging Het
Iglon5 T C 7: 43,480,638 E34G probably damaging Het
Kcnab1 T A 3: 65,319,467 V189D probably damaging Het
Kifap3 T A 1: 163,856,065 D438E probably benign Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Lrrc41 G A 4: 116,096,385 R756Q possibly damaging Het
Lrrc49 A T 9: 60,598,157 F538L possibly damaging Het
Nphp3 G A 9: 104,037,376 R1052H probably benign Het
Nynrin G A 14: 55,872,067 V1544I possibly damaging Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Olfr1154 G A 2: 87,903,475 S67F probably damaging Het
Olfr1346 T C 7: 6,474,442 S111P possibly damaging Het
Osbpl6 T C 2: 76,586,769 F577L probably damaging Het
Otc A G X: 10,303,367 Q216R probably benign Het
Ppp1r12a A G 10: 108,198,919 I108M possibly damaging Het
Prl7a1 C A 13: 27,642,419 probably null Het
Prss16 T C 13: 22,009,409 D72G possibly damaging Het
Qrsl1 T C 10: 43,896,096 K33E probably benign Het
Rabepk A T 2: 34,795,234 I58N possibly damaging Het
Ralgapa1 A T 12: 55,717,071 H1403Q probably benign Het
Rhobtb3 C A 13: 75,872,365 C606F possibly damaging Het
Rnf216 G A 5: 143,090,926 H68Y probably benign Het
Scap T C 9: 110,381,593 C998R probably damaging Het
Scgb1b27 T C 7: 34,021,824 Y46H probably damaging Het
Sel1l2 T C 2: 140,244,165 Y502C probably damaging Het
Sis A T 3: 72,913,194 F1412L probably benign Het
Slc25a29 A T 12: 108,835,661 C9S possibly damaging Het
Snap91 T C 9: 86,798,571 T427A probably benign Het
St3gal6 A G 16: 58,473,534 F211L probably damaging Het
Stab1 G A 14: 31,161,880 S240F probably benign Het
Sun3 T A 11: 9,023,371 K109* probably null Het
Syne1 T C 10: 5,041,484 N8410S probably benign Het
Tbx18 G T 9: 87,724,350 S247R probably damaging Het
Tenm3 T C 8: 48,276,169 I1601V probably benign Het
Tmem135 T C 7: 89,154,074 N297S probably damaging Het
Tnk1 C T 11: 69,855,191 probably null Het
Txnl4b A G 8: 109,568,919 probably benign Het
Uck1 T C 2: 32,258,303 D167G probably damaging Het
Vmn2r124 A T 17: 18,049,665 H61L possibly damaging Het
Xylt2 C T 11: 94,669,996 V239M possibly damaging Het
Zmpste24 T C 4: 121,097,965 D12G probably benign Het
Zscan25 A G 5: 145,283,692 Y99C probably damaging Het
Other mutations in Sf3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Sf3a2 APN 10 80804692 nonsense probably null
IGL02997:Sf3a2 APN 10 80803620 missense probably damaging 1.00
R0470:Sf3a2 UTSW 10 80804554 unclassified probably benign
R1436:Sf3a2 UTSW 10 80804206 unclassified probably benign
R1437:Sf3a2 UTSW 10 80804206 unclassified probably benign
R2234:Sf3a2 UTSW 10 80802829 missense probably benign 0.05
R3871:Sf3a2 UTSW 10 80804693 unclassified probably benign
R4116:Sf3a2 UTSW 10 80801341 missense probably damaging 0.98
R4659:Sf3a2 UTSW 10 80803584 missense probably damaging 1.00
R4946:Sf3a2 UTSW 10 80804113 unclassified probably benign
R5081:Sf3a2 UTSW 10 80804441 unclassified probably benign
R5618:Sf3a2 UTSW 10 80804576 unclassified probably benign
R6039:Sf3a2 UTSW 10 80801463 missense probably damaging 1.00
R6039:Sf3a2 UTSW 10 80801463 missense probably damaging 1.00
R7925:Sf3a2 UTSW 10 80804437 unclassified probably benign
R7930:Sf3a2 UTSW 10 80804437 unclassified probably benign
R8118:Sf3a2 UTSW 10 80803640 missense probably damaging 1.00
R8170:Sf3a2 UTSW 10 80803297 splice site probably null
R8757:Sf3a2 UTSW 10 80804304 missense unknown
R8785:Sf3a2 UTSW 10 80804437 unclassified probably benign
R8874:Sf3a2 UTSW 10 80804437 unclassified probably benign
R9111:Sf3a2 UTSW 10 80804437 unclassified probably benign
R9292:Sf3a2 UTSW 10 80804726 missense unknown
Predicted Primers PCR Primer
(F):5'- TCTCAGTACAGAGCAGATGGCC -3'
(R):5'- AAGTCGGCTGTGTGTCCTAG -3'

Sequencing Primer
(F):5'- TGGTGCCAGGATTCTCACC -3'
(R):5'- CCTAGGGACAAGGGTATGT -3'
Posted On 2014-10-15