Incidental Mutation 'IGL02183:Celf1'
ID 284291
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 # IGL02183
Quality Score
Status
Chromosome 2
Chromosomal Location 90770727-90849842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 90831831 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 96 (P96S)
Ref Sequence ENSEMBL: ENSMUSP00000064323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005643] [ENSMUST00000068726] [ENSMUST00000068747] [ENSMUST00000111448] [ENSMUST00000111449] [ENSMUST00000111451] [ENSMUST00000177642] [ENSMUST00000111455] [ENSMUST00000111452]
AlphaFold P28659
Predicted Effect probably damaging
Transcript: ENSMUST00000005643
AA Change: P123S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: P123S

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: P96S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: P96S

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: P96S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: P96S

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: P96S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: P96S

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: P96S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: P96S

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: P96S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: P96S

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: P96S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: P96S

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: ENSMUST00000111455
AA Change: P123S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: P123S

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: ENSMUST00000111452
AA Change: P123S

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: P123S

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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 T A X: 162,960,465 (GRCm39) probably benign Het
Acsm4 A T 7: 119,293,075 (GRCm39) probably null Het
Apcdd1 T C 18: 63,084,925 (GRCm39) M374T probably damaging Het
Arid4b A G 13: 14,344,575 (GRCm39) E551G possibly damaging Het
Bag4 A T 8: 26,258,058 (GRCm39) L423Q probably damaging Het
Cracdl G A 1: 37,664,459 (GRCm39) P480S possibly damaging Het
Cry2 G A 2: 92,243,384 (GRCm39) R486W probably damaging Het
Csn1s1 G A 5: 87,825,477 (GRCm39) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,886 (GRCm39) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,118,384 (GRCm39) probably benign Het
Dock7 A T 4: 98,847,228 (GRCm39) C1695S possibly damaging Het
Elmo3 T C 8: 106,034,955 (GRCm39) L415P probably benign Het
Entpd5 A G 12: 84,427,154 (GRCm39) probably benign Het
Gpatch11 T C 17: 79,149,660 (GRCm39) probably null Het
Gprin3 C A 6: 59,330,147 (GRCm39) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm39) T358P probably damaging Het
Hcn2 T C 10: 79,560,647 (GRCm39) probably null Het
Hivep3 A G 4: 119,989,221 (GRCm39) T1891A probably benign Het
Hmgcr A G 13: 96,799,635 (GRCm39) V153A probably damaging Het
Ifnar1 T C 16: 91,302,034 (GRCm39) V503A possibly damaging Het
Igf2r G A 17: 12,917,403 (GRCm39) probably benign Het
Ighg2b A G 12: 113,271,449 (GRCm39) S35P unknown Het
Jmy T C 13: 93,635,750 (GRCm39) D22G possibly damaging Het
Kdm5b T C 1: 134,552,669 (GRCm39) I1215T probably benign Het
Krt84 T C 15: 101,440,791 (GRCm39) I134V unknown Het
Magi3 T A 3: 103,992,663 (GRCm39) M270L probably benign Het
Maneal G A 4: 124,754,209 (GRCm39) T198I probably benign Het
Map7d3 A G X: 55,867,591 (GRCm39) probably benign Het
Myh7 T A 14: 55,212,188 (GRCm39) T1519S probably benign Het
Myo5a T C 9: 75,074,518 (GRCm39) probably benign Het
Naip5 T C 13: 100,358,150 (GRCm39) S1029G probably benign Het
Or14j1 G T 17: 38,146,304 (GRCm39) C138F probably damaging Het
Or4c11c A T 2: 88,662,372 (GRCm39) I304F probably benign Het
Or4g16 T A 2: 111,136,763 (GRCm39) V71E probably damaging Het
Or5d14 T C 2: 87,880,333 (GRCm39) T212A possibly damaging Het
Or5k15 T A 16: 58,710,184 (GRCm39) Q133L probably benign Het
Pald1 A T 10: 61,182,920 (GRCm39) probably benign Het
Pan2 T A 10: 128,144,944 (GRCm39) H230Q possibly damaging Het
Pcdh9 T C 14: 94,123,720 (GRCm39) I817V probably benign Het
Piezo2 A G 18: 63,153,705 (GRCm39) S2547P probably benign Het
Ppargc1b T A 18: 61,442,167 (GRCm39) probably null Het
Prdm6 T C 18: 53,597,749 (GRCm39) probably benign Het
Prr5l A T 2: 101,602,465 (GRCm39) probably benign Het
Rab3gap2 T A 1: 185,003,665 (GRCm39) L1020* probably null Het
Rhbdf1 T C 11: 32,160,543 (GRCm39) H669R probably damaging Het
Rnf150 A T 8: 83,730,234 (GRCm39) I255F probably damaging Het
Rnf17 T A 14: 56,745,325 (GRCm39) D1360E probably null Het
Sag T C 1: 87,756,197 (GRCm39) probably null Het
Scn2a C T 2: 65,501,947 (GRCm39) T90I probably benign Het
Scn9a T A 2: 66,314,955 (GRCm39) probably benign Het
Serpinb13 T C 1: 106,926,640 (GRCm39) M212T probably damaging Het
Slc39a14 C T 14: 70,544,134 (GRCm39) G484E possibly damaging Het
Slco1a1 A T 6: 141,867,669 (GRCm39) probably benign Het
Slitrk3 A T 3: 72,957,312 (GRCm39) Y487N probably damaging Het
Stkld1 T C 2: 26,836,671 (GRCm39) M279T probably benign Het
Tmem161b T C 13: 84,420,373 (GRCm39) Y125H probably damaging Het
Tmem71 A G 15: 66,426,874 (GRCm39) probably benign Het
Ubxn7 T C 16: 32,188,201 (GRCm39) F142L probably damaging Het
Vmn2r22 A G 6: 123,614,963 (GRCm39) L209P probably damaging Het
Wdr73 A T 7: 80,543,508 (GRCm39) W136R probably damaging Het
Wif1 C T 10: 120,911,181 (GRCm39) R107C probably damaging Het
Ythdf2 G T 4: 131,932,885 (GRCm39) L92M probably benign Het
Zfp53 T A 17: 21,720,512 (GRCm39) I34N possibly damaging Het
Zpld2 A G 4: 133,929,291 (GRCm39) L338S 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
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
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