Incidental Mutation 'IGL03172:Celf6'
ID411869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Celf6
Ensembl Gene ENSMUSG00000032297
Gene NameCUGBP, Elav-like family member 6
Synonyms6330569O16Rik, Brunol6
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03172
Quality Score
Status
Chromosome9
Chromosomal Location59577917-59607292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 59582282 bp
ZygosityHeterozygous
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]
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: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Smgc A T 15: 91,860,444 D333V probably damaging Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Celf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Celf6 APN 9 59603525 missense probably damaging 0.98
R0119:Celf6 UTSW 9 59602878 missense probably benign 0.00
R0299:Celf6 UTSW 9 59602878 missense probably benign 0.00
R0499:Celf6 UTSW 9 59602878 missense probably benign 0.00
R1188:Celf6 UTSW 9 59590678 missense probably benign 0.34
R1543:Celf6 UTSW 9 59603877 splice site probably benign
R2198:Celf6 UTSW 9 59603339 missense possibly damaging 0.95
R2207:Celf6 UTSW 9 59604327 missense possibly damaging 0.93
R4460:Celf6 UTSW 9 59603044 missense probably damaging 1.00
R6908:Celf6 UTSW 9 59603823 missense probably benign 0.05
Posted On2016-08-02