Incidental Mutation 'IGL03172:Celf6'
ID 411869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celf6
Ensembl Gene ENSMUSG00000032297
Gene Name CUGBP, Elav-like family member 6
Synonyms 6330569O16Rik, Brunol6
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03172
Quality Score
Status
Chromosome 9
Chromosomal Location 59485200-59514575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59489565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 90 (A90V)
Ref Sequence ENSEMBL: ENSMUSP00000118556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034840] [ENSMUST00000118549] [ENSMUST00000129357] [ENSMUST00000143916]
AlphaFold Q7TN33
Predicted Effect probably damaging
Transcript: ENSMUST00000034840
AA Change: A90V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297
AA Change: A90V

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
RRM 47 123 2.16e-19 SMART
RRM 135 210 1.05e-17 SMART
low complexity region 252 294 N/A INTRINSIC
low complexity region 298 312 N/A INTRINSIC
low complexity region 340 354 N/A INTRINSIC
RRM 376 449 7.35e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118549
AA Change: A90V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: A90V

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
RRM 47 123 2.16e-19 SMART
RRM 135 210 1.05e-17 SMART
low complexity region 252 294 N/A INTRINSIC
low complexity region 298 312 N/A INTRINSIC
low complexity region 356 375 N/A INTRINSIC
RRM 397 470 7.35e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129357
AA Change: A90V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297
AA Change: A90V

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
RRM 47 121 1e-14 SMART
low complexity region 138 149 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000143916
AA Change: A90V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297
AA Change: A90V

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
RRM 47 123 2.16e-19 SMART
Pfam:RRM_1 136 177 1.5e-7 PFAM
Pfam:RRM_6 136 177 3.7e-6 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased ultrasonic vocalization, decreased brain serotonin levels, and selective behavioral deficits including an abnormal response to novel odor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,003 (GRCm39) H528R probably damaging Het
A530053G22Rik A T 6: 60,379,047 (GRCm39) noncoding transcript Het
Aagab A G 9: 63,542,676 (GRCm39) probably benign Het
Aknad1 A T 3: 108,688,519 (GRCm39) I616F possibly damaging Het
Ap2a1 A C 7: 44,553,479 (GRCm39) D629E probably benign Het
Apc2 C A 10: 80,149,220 (GRCm39) Q1425K probably damaging Het
Asf1b A C 8: 84,694,542 (GRCm39) H102P probably benign Het
Chrna2 A T 14: 66,379,688 (GRCm39) Q9L probably benign Het
Csnk1g3 A G 18: 54,086,356 (GRCm39) I420M possibly damaging Het
Eml3 T C 19: 8,916,543 (GRCm39) probably benign Het
Epn3 T C 11: 94,382,456 (GRCm39) N508S possibly damaging Het
Fam120a T C 13: 49,063,812 (GRCm39) Y608C probably damaging Het
Fbn1 A C 2: 125,162,888 (GRCm39) C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 (GRCm39) F128L probably damaging Het
Fn1 T C 1: 71,680,421 (GRCm39) N428S probably damaging Het
Fxr2 T C 11: 69,540,665 (GRCm39) probably null Het
Gabrp T C 11: 33,504,388 (GRCm39) Y309C probably damaging Het
Golga2 A G 2: 32,182,168 (GRCm39) I50V probably benign Het
Ifi203 C T 1: 173,764,158 (GRCm39) G105R possibly damaging Het
Itgav A T 2: 83,596,190 (GRCm39) Q201L possibly damaging Het
Jade2 T C 11: 51,716,198 (GRCm39) T336A probably damaging Het
Kdm4b A G 17: 56,708,649 (GRCm39) D996G probably damaging Het
Me2 A G 18: 73,903,797 (GRCm39) I557T probably benign Het
Memo1 A C 17: 74,551,996 (GRCm39) L100R probably damaging Het
Mrps2 A G 2: 28,359,818 (GRCm39) N225S probably damaging Het
Ndufa2 A G 18: 36,877,278 (GRCm39) probably null Het
Or2g7 G T 17: 38,378,275 (GRCm39) C71F probably damaging Het
Or7g19 G A 9: 18,856,757 (GRCm39) S271N probably benign Het
Pak5 G T 2: 135,940,310 (GRCm39) Y501* probably null Het
Pot1b A T 17: 56,002,206 (GRCm39) F123I possibly damaging Het
Rev3l T C 10: 39,700,786 (GRCm39) V1761A probably benign Het
Samd3 T A 10: 26,106,064 (GRCm39) V14E probably damaging Het
Slc4a8 G A 15: 100,697,598 (GRCm39) A605T probably benign Het
Smgc A T 15: 91,744,642 (GRCm39) D333V probably damaging Het
Spata4 A G 8: 55,055,440 (GRCm39) I147V probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn2r73 G A 7: 85,507,495 (GRCm39) H606Y probably benign Het
Vsig8 A G 1: 172,387,916 (GRCm39) N2S probably damaging Het
Wdr17 A C 8: 55,114,515 (GRCm39) I667R probably damaging Het
Yif1b A G 7: 28,937,873 (GRCm39) probably null Het
Zbtb5 A T 4: 44,994,003 (GRCm39) H460Q possibly damaging Het
Zdhhc21 G A 4: 82,724,564 (GRCm39) probably benign Het
Zfp944 A T 17: 22,559,018 (GRCm39) H76Q probably damaging Het
Zkscan1 A G 5: 138,092,264 (GRCm39) Q146R probably benign Het
Other mutations in Celf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Celf6 APN 9 59,510,808 (GRCm39) missense probably damaging 0.98
R0119:Celf6 UTSW 9 59,510,161 (GRCm39) missense probably benign 0.00
R0299:Celf6 UTSW 9 59,510,161 (GRCm39) missense probably benign 0.00
R0499:Celf6 UTSW 9 59,510,161 (GRCm39) missense probably benign 0.00
R1188:Celf6 UTSW 9 59,497,961 (GRCm39) missense probably benign 0.34
R1543:Celf6 UTSW 9 59,511,160 (GRCm39) splice site probably benign
R2198:Celf6 UTSW 9 59,510,622 (GRCm39) missense possibly damaging 0.95
R2207:Celf6 UTSW 9 59,511,610 (GRCm39) missense possibly damaging 0.93
R4460:Celf6 UTSW 9 59,510,327 (GRCm39) missense probably damaging 1.00
R6908:Celf6 UTSW 9 59,511,106 (GRCm39) missense probably benign 0.05
R8788:Celf6 UTSW 9 59,485,750 (GRCm39) missense possibly damaging 0.73
R8993:Celf6 UTSW 9 59,510,154 (GRCm39) missense probably damaging 0.97
R9393:Celf6 UTSW 9 59,510,525 (GRCm39) missense probably benign 0.33
R9641:Celf6 UTSW 9 59,485,833 (GRCm39) missense probably damaging 1.00
R9662:Celf6 UTSW 9 59,485,668 (GRCm39) missense unknown
Posted On 2016-08-02