Incidental Mutation 'R5174:Celf1'
ID 470564
Institutional Source Beutler Lab
Gene Symbol Celf1
Ensembl Gene ENSMUSG00000005506
Gene Name CUGBP, Elav-like family member 1
Synonyms CUG-BP1, CUG-BP, D2Wsu101e, Brunol2, Cugbp1, 1600010O03Rik
MMRRC Submission 042754-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.826) question?
Stock # R5174 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 90770727-90849842 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90831353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 61 (C61R)
Ref Sequence ENSEMBL: ENSMUSP00000064323 (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: C88R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000005643
Gene: ENSMUSG00000005506
AA Change: C88R

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: C61R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064323
Gene: ENSMUSG00000005506
AA Change: C61R

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: C61R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070438
Gene: ENSMUSG00000005506
AA Change: C61R

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: C61R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107075
Gene: ENSMUSG00000005506
AA Change: C61R

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: C61R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107076
Gene: ENSMUSG00000005506
AA Change: C61R

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: C61R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107078
Gene: ENSMUSG00000005506
AA Change: C61R

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 noncoding transcript
Transcript: ENSMUST00000154442
Predicted Effect probably damaging
Transcript: ENSMUST00000177642
AA Change: C61R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136109
Gene: ENSMUSG00000005506
AA Change: C61R

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: C88R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107079
Gene: ENSMUSG00000005506
AA Change: C88R

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: C88R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107082
Gene: ENSMUSG00000005506
AA Change: C88R

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
Meta Mutation Damage Score 0.9185 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 99% (69/70)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 T C 10: 69,728,209 (GRCm39) S632P probably damaging Het
Arhgef16 G A 4: 154,366,504 (GRCm39) R451W probably damaging Het
Asxl3 A T 18: 22,656,172 (GRCm39) D1394V probably benign Het
Atp2a3 T A 11: 72,871,041 (GRCm39) I545N probably damaging Het
Cadps2 T A 6: 23,287,742 (GRCm39) Y1181F probably damaging Het
Camkmt C A 17: 85,759,665 (GRCm39) F268L probably benign Het
Casp14 C T 10: 78,551,225 (GRCm39) G20D possibly damaging Het
Cenpp CAAACCTGAAAA CAAA 13: 49,618,258 (GRCm39) probably null Het
Cers3 A T 7: 66,434,616 (GRCm39) K203M probably damaging Het
Clip4 T C 17: 72,117,957 (GRCm39) F334S probably damaging Het
Cyp2b13 T A 7: 25,788,118 (GRCm39) D415E possibly damaging Het
Decr2 A T 17: 26,306,443 (GRCm39) probably null Het
Dmxl2 T C 9: 54,352,768 (GRCm39) probably null Het
Dnah7b G A 1: 46,282,509 (GRCm39) A2881T possibly damaging Het
Dnaja3 A G 16: 4,502,161 (GRCm39) H55R probably benign Het
Dnajc11 T C 4: 152,064,441 (GRCm39) F531L probably damaging Het
Efcab6 A G 15: 83,938,687 (GRCm39) F10L probably benign Het
Epm2aip1 T C 9: 111,102,455 (GRCm39) F476S probably damaging Het
Fat3 T C 9: 15,910,866 (GRCm39) N1712S probably damaging Het
Flnc T C 6: 29,448,893 (GRCm39) V1343A possibly damaging Het
Fsip2 C T 2: 82,811,085 (GRCm39) P2468L probably benign Het
Gm5798 A G 14: 41,070,620 (GRCm39) H10R possibly damaging Het
Gm7168 A G 17: 14,168,717 (GRCm39) Y28C probably damaging Het
Gtpbp6 G A 5: 110,255,983 (GRCm39) R19C possibly damaging Het
Gucy2e A G 11: 69,127,392 (GRCm39) F27S probably benign Het
Inhca C T 9: 103,159,755 (GRCm39) probably null Het
Krba1 A G 6: 48,389,229 (GRCm39) E548G probably damaging Het
Ltbr A G 6: 125,286,500 (GRCm39) S229P probably benign Het
Mgat5b A T 11: 116,868,541 (GRCm39) Y488F probably benign Het
Mia3 T A 1: 183,112,348 (GRCm39) K475* probably null Het
Mrpl53 C T 6: 83,086,638 (GRCm39) T114M possibly damaging Het
Mrps35 T C 6: 146,961,709 (GRCm39) Y195H possibly damaging Het
Muc4 A T 16: 32,570,556 (GRCm39) I539F possibly damaging Het
Nedd1 T A 10: 92,547,074 (GRCm39) T150S possibly damaging Het
Nox4 T G 7: 86,972,974 (GRCm39) I327S probably benign Het
Nrk C G X: 137,887,528 (GRCm39) A1018G probably benign Het
Or4c102 T A 2: 88,422,992 (GRCm39) N281K probably damaging Het
Or4d5 T C 9: 40,012,043 (GRCm39) T248A possibly damaging Het
Or52ae7 T A 7: 103,119,610 (GRCm39) F121L probably benign Het
Or5w19 T A 2: 87,698,755 (GRCm39) V140E possibly damaging Het
Pdzd2 G A 15: 12,372,600 (GRCm39) P2512S probably benign Het
Ptgis T A 2: 167,045,390 (GRCm39) probably null Het
Rnf170 T A 8: 26,619,196 (GRCm39) M140K probably benign Het
Scaf4 A T 16: 90,044,062 (GRCm39) I637K unknown Het
Sdccag8 A T 1: 176,672,916 (GRCm39) T270S probably damaging Het
Sec24d T C 3: 123,158,575 (GRCm39) C1022R probably damaging Het
Sec63 T C 10: 42,705,077 (GRCm39) probably benign Het
Serpinb3d C G 1: 107,006,228 (GRCm39) E287Q possibly damaging Het
Silc1 A T 12: 27,192,027 (GRCm39) noncoding transcript Het
Smarcd2 A G 11: 106,157,871 (GRCm39) probably benign Het
Sox15 A G 11: 69,546,545 (GRCm39) Y116C probably damaging Het
Spag16 T C 1: 70,532,955 (GRCm39) S545P probably damaging Het
Ssc5d C A 7: 4,930,970 (GRCm39) T184N possibly damaging Het
St6galnac2 A T 11: 116,572,773 (GRCm39) F228I probably damaging Het
Syne1 T C 10: 4,991,490 (GRCm39) N8408S probably damaging Het
Trank1 A C 9: 111,194,627 (GRCm39) T884P probably benign Het
Ubr3 T A 2: 69,839,506 (GRCm39) L1540H probably damaging Het
Ugt2b37 C A 5: 87,399,739 (GRCm39) M256I probably benign Het
Vmn2r69 G A 7: 85,064,739 (GRCm39) T49I possibly damaging Het
Vmn2r72 T A 7: 85,387,048 (GRCm39) I839L probably benign Het
Zcrb1 A G 15: 93,285,456 (GRCm39) probably null Het
Zfp319 A T 8: 96,054,797 (GRCm39) probably null Het
Zfp592 T C 7: 80,688,073 (GRCm39) S1000P probably damaging Het
Zfp938 T C 10: 82,061,838 (GRCm39) N261D possibly damaging Het
Zfp957 A G 14: 79,450,828 (GRCm39) S324P unknown Het
Zswim6 G T 13: 107,863,216 (GRCm39) noncoding transcript 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
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
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
Predicted Primers PCR Primer
(F):5'- GTACAGCACCTCTACAGCTC -3'
(R):5'- GCAGCAAGAACTACTTTTGGTC -3'

Sequencing Primer
(F):5'- AGCAGTGCTGTAGGGATA -3'
(R):5'- TTTTCACAGTAATTCCCACAGCAAAG -3'
Posted On 2017-03-14