Incidental Mutation 'IGL02402:Celf1'
ID 291936
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 # IGL02402
Quality Score
Status
Chromosome 2
Chromosomal Location 90770727-90849842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90829068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 45 (I45N)
Ref Sequence ENSEMBL: ENSMUSP00000136109 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005643] [ENSMUST00000068726] [ENSMUST00000068747] [ENSMUST00000111448] [ENSMUST00000111449] [ENSMUST00000111451] [ENSMUST00000177642] [ENSMUST00000111452] [ENSMUST00000111455]
AlphaFold P28659
Predicted Effect probably damaging
Transcript: ENSMUST00000005643
AA Change: I72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: I72N

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: ENSMUST00000068726
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: I45N

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 damaging
Transcript: ENSMUST00000068747
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: I45N

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: ENSMUST00000111448
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: I45N

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 damaging
Transcript: ENSMUST00000111449
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: I45N

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: ENSMUST00000111451
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: I45N

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: ENSMUST00000177642
AA Change: I45N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: I45N

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: I72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: I72N

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: I72N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: I72N

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: ENSMUST00000127580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154442
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,707,543 (GRCm39) F568L probably benign Het
AW112010 T A 19: 11,025,741 (GRCm39) noncoding transcript Het
Bbs4 A T 9: 59,237,729 (GRCm39) L205H probably benign Het
Bmal2 T C 6: 146,711,266 (GRCm39) V90A possibly damaging Het
C2cd2l T C 9: 44,227,878 (GRCm39) K121R probably benign Het
Car14 A G 3: 95,806,870 (GRCm39) V198A possibly damaging Het
Cd22 G T 7: 30,576,955 (GRCm39) H117Q possibly damaging Het
Cluh T C 11: 74,547,997 (GRCm39) S103P probably damaging Het
Cyp39a1 T A 17: 44,002,613 (GRCm39) L276Q probably benign Het
Ddx27 T G 2: 166,857,245 (GRCm39) probably benign Het
Defb4 A T 8: 19,251,279 (GRCm39) I49F possibly damaging Het
Dock8 C A 19: 25,055,509 (GRCm39) T157K probably benign Het
Dpp6 T C 5: 27,839,541 (GRCm39) V352A probably damaging Het
Elmo2 C T 2: 165,139,312 (GRCm39) E412K probably damaging Het
Eme1 G A 11: 94,541,733 (GRCm39) P30S possibly damaging Het
Espnl G T 1: 91,272,535 (GRCm39) A632S probably benign Het
Gfod1 C A 13: 43,354,211 (GRCm39) A255S probably benign Het
Helz2 T A 2: 180,872,704 (GRCm39) K2432M probably damaging Het
Idua T C 5: 108,827,657 (GRCm39) L157P probably damaging Het
Ifi207 T A 1: 173,555,159 (GRCm39) D848V probably damaging Het
Jag1 C T 2: 136,927,858 (GRCm39) S851N possibly damaging Het
Kat6b T A 14: 21,681,415 (GRCm39) F571I probably damaging Het
Lrrc74b G A 16: 17,376,028 (GRCm39) probably benign Het
Mst1r A G 9: 107,794,026 (GRCm39) K1160E probably damaging Het
Muc19 C A 15: 91,778,192 (GRCm39) noncoding transcript Het
Nrg4 G A 9: 55,135,198 (GRCm39) probably benign Het
Ociad1 T C 5: 73,458,037 (GRCm39) I12T possibly damaging Het
Or1o3 A G 17: 37,574,111 (GRCm39) V148A possibly damaging Het
Pold3 A G 7: 99,749,618 (GRCm39) probably benign Het
Psmd5 T C 2: 34,747,784 (GRCm39) E291G probably damaging Het
Ptpn23 A G 9: 110,222,781 (GRCm39) V92A possibly damaging Het
Rab44 T A 17: 29,359,490 (GRCm39) H559Q probably benign Het
Rbm6 T C 9: 107,730,051 (GRCm39) D199G probably damaging Het
Rps18-ps3 C T 8: 107,989,754 (GRCm39) noncoding transcript Het
Septin10 T C 10: 59,006,758 (GRCm39) T93A probably benign Het
Slmap T C 14: 26,184,865 (GRCm39) T111A probably damaging Het
Spata25 C T 2: 164,670,377 (GRCm39) M1I probably null Het
Spink5 T A 18: 44,100,171 (GRCm39) C63S probably damaging Het
Sycp3 T C 10: 88,302,425 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,177,567 (GRCm39) probably benign Het
Thbs2 A T 17: 14,891,716 (GRCm39) N940K probably benign Het
Tmem106b A T 6: 13,081,600 (GRCm39) Q169L possibly damaging Het
Trpm6 G T 19: 18,764,120 (GRCm39) C242F probably benign Het
Ush2a T A 1: 187,999,305 (GRCm39) M205K probably benign Het
Utp18 A C 11: 93,774,617 (GRCm39) probably benign 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
IGL02350:Celf1 APN 2 90,828,933 (GRCm39) missense probably damaging 0.97
IGL02357:Celf1 APN 2 90,828,933 (GRCm39) missense probably damaging 0.97
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