Incidental Mutation 'IGL02132:Cpsf4l'
ID 281031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpsf4l
Ensembl Gene ENSMUSG00000018727
Gene Name cleavage and polyadenylation specific factor 4-like
Synonyms 1500000C01Rik, 0610010C04Rik, D11Ertd636e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02132
Quality Score
Status
Chromosome 11
Chromosomal Location 113698172-113710017 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 113699859 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 222 (S222P)
Ref Sequence ENSEMBL: ENSMUSP00000133451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018871] [ENSMUST00000100248] [ENSMUST00000106617] [ENSMUST00000173655]
AlphaFold E9Q2N0
Predicted Effect silent
Transcript: ENSMUST00000018871
SMART Domains Protein: ENSMUSP00000018871
Gene: ENSMUSG00000018727

DomainStartEndE-ValueType
ZnF_C3H1 10 36 1.1e-2 SMART
ZnF_C3H1 38 64 4.64e-1 SMART
ZnF_C3H1 68 93 2.34e0 SMART
ZnF_C3H1 94 117 2.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000100248
AA Change: S274P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000097819
Gene: ENSMUSG00000018727
AA Change: S274P

DomainStartEndE-ValueType
low complexity region 62 74 N/A INTRINSIC
ZnF_C3H1 89 114 3.38e-1 SMART
ZnF_C3H1 115 141 1.1e-2 SMART
ZnF_C3H1 143 169 4.64e-1 SMART
ZnF_C3H1 173 197 1.36e-2 SMART
ZnF_C3H1 198 221 5.21e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106617
AA Change: S147P

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000102228
Gene: ENSMUSG00000018727
AA Change: S147P

DomainStartEndE-ValueType
ZnF_C3H1 10 36 1.1e-2 SMART
ZnF_C3H1 38 64 4.64e-1 SMART
ZnF_C3H1 68 93 2.34e0 SMART
ZnF_C3H1 94 117 5.21e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151396
Predicted Effect possibly damaging
Transcript: ENSMUST00000173655
AA Change: S222P

PolyPhen 2 Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133451
Gene: ENSMUSG00000018727
AA Change: S222P

DomainStartEndE-ValueType
ZnF_C3H1 35 61 1.33e-1 SMART
ZnF_C3H1 62 88 1.1e-2 SMART
ZnF_C3H1 90 116 4.64e-1 SMART
ZnF_C3H1 120 145 2.34e0 SMART
ZnF_C3H1 146 169 5.21e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,778,730 probably benign Het
4930432E11Rik C T 7: 29,563,279 noncoding transcript Het
Adcy10 T C 1: 165,572,543 V1507A probably damaging Het
Ap3b2 T A 7: 81,460,998 M1010L unknown Het
Bmp10 T C 6: 87,434,148 S308P probably benign Het
Cnih3 C A 1: 181,454,709 Y169* probably null Het
Cyp2d10 G A 15: 82,404,607 probably benign Het
Dcstamp A T 15: 39,754,532 E112D probably damaging Het
Fras1 C T 5: 96,781,637 Q3967* probably null Het
Gcm1 C A 9: 78,064,839 P354H possibly damaging Het
Gen1 A G 12: 11,241,866 S706P probably benign Het
Glb1l3 G T 9: 26,825,170 T532N probably benign Het
Gm5069 T A 1: 180,327,307 probably benign Het
Gzmc A C 14: 56,233,965 F40V probably benign Het
Itgb2 G T 10: 77,550,061 C286F probably damaging Het
Jak3 A G 8: 71,678,480 Y48C probably damaging Het
Lrp2 G A 2: 69,537,616 S184L probably benign Het
Myo1f T A 17: 33,579,971 N203K probably benign Het
Nrxn2 G A 19: 6,472,276 G182R probably damaging Het
Olfr1000 A C 2: 85,608,320 L197V probably benign Het
Olfr1208 A G 2: 88,897,159 V146A probably benign Het
Olfr726 T C 14: 50,084,486 N65S probably damaging Het
Otog C T 7: 46,305,479 S2692L probably damaging Het
Pde9a C T 17: 31,453,470 T34I probably benign Het
Phip T C 9: 82,881,341 T1295A possibly damaging Het
Pik3cb A G 9: 99,071,377 V451A probably benign Het
Psd2 T G 18: 36,004,756 probably benign Het
Pycr2 T C 1: 180,906,197 I118T probably damaging Het
Rnf17 T G 14: 56,421,166 M104R probably benign Het
Rp1l1 T C 14: 64,028,810 V615A probably benign Het
Sel1l3 T A 5: 53,170,405 R511W possibly damaging Het
Sis T C 3: 72,947,471 N478D probably benign Het
Trps1 T A 15: 50,822,278 S584C probably damaging Het
Vmn2r124 T C 17: 18,064,229 probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Zc3h13 T C 14: 75,330,347 S1027P probably benign Het
Zfp644 A T 5: 106,635,894 I929K probably benign Het
Other mutations in Cpsf4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Cpsf4l APN 11 113709218 intron probably benign
IGL02427:Cpsf4l APN 11 113709498 utr 5 prime probably benign
R0790:Cpsf4l UTSW 11 113706408 splice site probably benign
R1700:Cpsf4l UTSW 11 113702075 missense probably benign 0.17
R1909:Cpsf4l UTSW 11 113703378 splice site probably null
R3522:Cpsf4l UTSW 11 113702493 missense probably damaging 1.00
R4830:Cpsf4l UTSW 11 113709502 utr 5 prime probably benign
R6006:Cpsf4l UTSW 11 113699927 missense probably benign 0.23
R6229:Cpsf4l UTSW 11 113708854 missense possibly damaging 0.89
R6593:Cpsf4l UTSW 11 113709366 intron probably benign
R7107:Cpsf4l UTSW 11 113702489 missense possibly damaging 0.55
R7373:Cpsf4l UTSW 11 113699831 splice site probably null
R8517:Cpsf4l UTSW 11 113708825 missense probably benign 0.02
R8733:Cpsf4l UTSW 11 113709453 missense possibly damaging 0.91
Posted On 2015-04-16