Incidental Mutation 'IGL02350:Celf1'
ID 289729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celf1
Ensembl Gene ENSMUSG00000005506
Gene Name CUGBP, Elav-like family member 1
Synonyms CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # IGL02350
Quality Score
Status
Chromosome 2
Chromosomal Location 90770727-90849842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90828933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 27 (K27I)
Ref Sequence ENSEMBL: ENSMUSP00000107082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005643] [ENSMUST00000068726] [ENSMUST00000068747] [ENSMUST00000111448] [ENSMUST00000111449] [ENSMUST00000111451] [ENSMUST00000111452] [ENSMUST00000111455] [ENSMUST00000177642]
AlphaFold P28659
Predicted Effect probably damaging
Transcript: ENSMUST00000005643
AA Change: K27I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: K27I

DomainStartEndE-ValueType
RRM 44 122 5.93e-17 SMART
RRM 136 211 2.52e-20 SMART
low complexity region 226 234 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
low complexity region 283 303 N/A INTRINSIC
low complexity region 311 338 N/A INTRINSIC
low complexity region 342 355 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
RRM 429 502 1.71e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068726
SMART Domains Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 283 315 N/A INTRINSIC
low complexity region 316 329 N/A INTRINSIC
low complexity region 332 357 N/A INTRINSIC
RRM 403 476 1.71e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068747
SMART Domains Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 284 311 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 331 356 N/A INTRINSIC
RRM 402 475 1.71e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111448
SMART Domains Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 252 272 N/A INTRINSIC
low complexity region 279 311 N/A INTRINSIC
low complexity region 312 325 N/A INTRINSIC
low complexity region 328 353 N/A INTRINSIC
RRM 399 472 1.71e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111449
SMART Domains Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 284 311 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 331 356 N/A INTRINSIC
RRM 402 475 1.71e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111451
SMART Domains Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 284 311 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 331 356 N/A INTRINSIC
RRM 402 475 1.71e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111452
AA Change: K27I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: K27I

DomainStartEndE-ValueType
RRM 44 122 5.93e-17 SMART
RRM 136 211 2.52e-20 SMART
low complexity region 226 234 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
low complexity region 283 303 N/A INTRINSIC
low complexity region 311 338 N/A INTRINSIC
low complexity region 342 355 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
RRM 429 502 1.71e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111455
AA Change: K27I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: K27I

DomainStartEndE-ValueType
RRM 44 122 5.93e-17 SMART
RRM 136 211 2.52e-20 SMART
low complexity region 226 234 N/A INTRINSIC
low complexity region 253 264 N/A INTRINSIC
low complexity region 283 303 N/A INTRINSIC
low complexity region 311 338 N/A INTRINSIC
low complexity region 342 355 N/A INTRINSIC
low complexity region 358 383 N/A INTRINSIC
RRM 429 502 1.71e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127580
Predicted Effect probably benign
Transcript: ENSMUST00000177642
SMART Domains Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506

DomainStartEndE-ValueType
RRM 17 95 5.93e-17 SMART
RRM 109 184 2.52e-20 SMART
low complexity region 199 207 N/A INTRINSIC
low complexity region 226 237 N/A INTRINSIC
low complexity region 256 276 N/A INTRINSIC
low complexity region 284 311 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 331 356 N/A INTRINSIC
RRM 402 475 1.71e-22 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous disruption of this gene results in significant postnatal lethality, growth retardation, and impaired fertility in both sexes. Male infertility is caused by a blockage of spermiogenesis at stage 7 and increased germ cell apoptosis but is not fully penetrant. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 A G 8: 71,914,121 (GRCm39) V169A probably benign Het
Adamts16 T A 13: 70,886,704 (GRCm39) T1029S probably benign Het
Adgrv1 C A 13: 81,418,974 (GRCm39) C6007F probably benign Het
Ak8 A T 2: 28,590,225 (GRCm39) H8L probably benign Het
Apol7b A G 15: 77,307,832 (GRCm39) V221A probably benign Het
BC005624 G A 2: 30,863,779 (GRCm39) P235S probably benign Het
Cd96 A G 16: 45,890,139 (GRCm39) probably benign Het
Cfap65 A T 1: 74,967,507 (GRCm39) C190* probably null Het
Cib2 A T 9: 54,457,170 (GRCm39) H31Q probably damaging Het
Cyp3a59 T C 5: 146,016,152 (GRCm39) L3P probably damaging Het
Dnajc13 T C 9: 104,039,558 (GRCm39) M2104V possibly damaging Het
Dph3b-ps A G 13: 106,683,453 (GRCm39) noncoding transcript Het
Emb A G 13: 117,386,007 (GRCm39) probably benign Het
Fbn2 G T 18: 58,237,067 (GRCm39) N645K possibly damaging Het
Fes T C 7: 80,033,578 (GRCm39) probably null Het
Flnc A T 6: 29,438,492 (GRCm39) K129* probably null Het
Gckr C A 5: 31,465,134 (GRCm39) H368N possibly damaging Het
Gm5145 A T 17: 20,790,702 (GRCm39) I27F probably damaging Het
Hecw1 A G 13: 14,422,923 (GRCm39) probably null Het
Hivep3 T G 4: 119,980,222 (GRCm39) C1753W probably damaging Het
Hook2 C T 8: 85,721,614 (GRCm39) Q291* probably null Het
Jakmip2 T C 18: 43,680,192 (GRCm39) T722A possibly damaging Het
Kcnt2 A G 1: 140,279,007 (GRCm39) I53V probably benign Het
Lipo2 A G 19: 33,708,348 (GRCm39) L222P possibly damaging Het
Mrc2 A G 11: 105,216,547 (GRCm39) D112G probably damaging Het
Mroh2b A G 15: 4,941,482 (GRCm39) N338S probably benign Het
Mrpl23 T A 7: 142,089,802 (GRCm39) probably benign Het
Myo18a A G 11: 77,741,073 (GRCm39) N1442S probably benign Het
Ngdn T A 14: 55,259,393 (GRCm39) V179E probably damaging Het
Nxn A G 11: 76,165,480 (GRCm39) probably benign Het
Or10am5 T A 7: 6,518,225 (GRCm39) M68L probably damaging Het
Or2b7 A G 13: 21,739,772 (GRCm39) L140P probably damaging Het
Osmr A T 15: 6,858,144 (GRCm39) N441K probably benign Het
Plcb3 A C 19: 6,935,546 (GRCm39) L789R probably damaging Het
Plek C T 11: 16,931,846 (GRCm39) R335H probably damaging Het
Pmp22 G T 11: 63,049,134 (GRCm39) V126F probably benign Het
Prom1 A G 5: 44,186,946 (GRCm39) probably benign Het
Prss1 C A 6: 41,440,139 (GRCm39) Q159K probably damaging Het
Psd3 G T 8: 68,416,521 (GRCm39) H459N probably benign Het
Rusc2 T G 4: 43,425,351 (GRCm39) V1152G possibly damaging Het
Slc16a4 A G 3: 107,210,415 (GRCm39) I362V probably benign Het
Slc22a22 A G 15: 57,110,844 (GRCm39) V461A probably benign Het
Slc35e4 C T 11: 3,862,640 (GRCm39) R183Q probably benign Het
Spen T C 4: 141,204,890 (GRCm39) T1246A unknown Het
Syt16 T C 12: 74,313,616 (GRCm39) V514A probably benign Het
Tdpoz2 A G 3: 93,559,735 (GRCm39) V79A possibly damaging Het
Ttn A G 2: 76,539,963 (GRCm39) V34341A probably benign Het
Vxn T C 1: 9,683,544 (GRCm39) I44T possibly damaging Het
Wwox T C 8: 115,438,882 (GRCm39) V316A possibly damaging Het
Other mutations in Celf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01714:Celf1 APN 2 90,839,552 (GRCm39) missense possibly damaging 0.83
IGL02126:Celf1 APN 2 90,831,408 (GRCm39) missense probably damaging 1.00
IGL02183:Celf1 APN 2 90,831,831 (GRCm39) missense probably damaging 1.00
IGL02357:Celf1 APN 2 90,828,933 (GRCm39) missense probably damaging 0.97
IGL02402:Celf1 APN 2 90,829,068 (GRCm39) missense probably damaging 1.00
IGL02522:Celf1 APN 2 90,839,646 (GRCm39) missense possibly damaging 0.46
Colostrum UTSW 2 90,831,423 (GRCm39) missense probably damaging 0.97
Creamy UTSW 2 90,843,189 (GRCm39) critical splice donor site probably null
R0033:Celf1 UTSW 2 90,831,798 (GRCm39) splice site probably benign
R0033:Celf1 UTSW 2 90,831,798 (GRCm39) splice site probably benign
R0147:Celf1 UTSW 2 90,835,035 (GRCm39) splice site probably benign
R2008:Celf1 UTSW 2 90,840,753 (GRCm39) missense probably damaging 0.97
R2132:Celf1 UTSW 2 90,840,791 (GRCm39) missense probably damaging 1.00
R3769:Celf1 UTSW 2 90,828,993 (GRCm39) missense probably damaging 1.00
R3845:Celf1 UTSW 2 90,839,583 (GRCm39) missense possibly damaging 0.46
R3857:Celf1 UTSW 2 90,843,086 (GRCm39) missense probably damaging 0.98
R3858:Celf1 UTSW 2 90,843,086 (GRCm39) missense probably damaging 0.98
R5174:Celf1 UTSW 2 90,831,353 (GRCm39) missense probably damaging 1.00
R5287:Celf1 UTSW 2 90,839,552 (GRCm39) missense possibly damaging 0.83
R6395:Celf1 UTSW 2 90,834,203 (GRCm39) missense probably benign 0.01
R6993:Celf1 UTSW 2 90,840,821 (GRCm39) missense probably damaging 1.00
R7063:Celf1 UTSW 2 90,843,189 (GRCm39) critical splice donor site probably null
R7242:Celf1 UTSW 2 90,833,602 (GRCm39) nonsense probably null
R7419:Celf1 UTSW 2 90,833,588 (GRCm39) missense probably benign
R7502:Celf1 UTSW 2 90,835,100 (GRCm39) nonsense probably null
R7921:Celf1 UTSW 2 90,829,092 (GRCm39) missense probably benign 0.28
R7975:Celf1 UTSW 2 90,831,423 (GRCm39) missense probably damaging 0.97
R8708:Celf1 UTSW 2 90,840,925 (GRCm39) critical splice donor site probably null
R8871:Celf1 UTSW 2 90,840,840 (GRCm39) missense probably damaging 1.00
R9164:Celf1 UTSW 2 90,831,426 (GRCm39) missense probably damaging 1.00
X0062:Celf1 UTSW 2 90,828,939 (GRCm39) missense possibly damaging 0.88
Z1177:Celf1 UTSW 2 90,835,050 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16