Incidental Mutation 'R6908:Celf6'
ID 538872
Institutional Source Beutler Lab
Gene Symbol Celf6
Ensembl Gene ENSMUSG00000032297
Gene Name CUGBP, Elav-like family member 6
Synonyms 6330569O16Rik, Brunol6
MMRRC Submission 045000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6908 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 59485200-59514575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59511106 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 349 (V349A)
Ref Sequence ENSEMBL: ENSMUSP00000112755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034840] [ENSMUST00000118164] [ENSMUST00000118549] [ENSMUST00000121266] [ENSMUST00000129357] [ENSMUST00000143916]
AlphaFold Q7TN33
Predicted Effect probably benign
Transcript: ENSMUST00000034840
SMART Domains Protein: ENSMUSP00000034840
Gene: ENSMUSG00000032297

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 benign
Transcript: ENSMUST00000118164
SMART Domains Protein: ENSMUSP00000112403
Gene: ENSMUSG00000032297

DomainStartEndE-ValueType
RRM 20 95 1.05e-17 SMART
low complexity region 137 179 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
RRM 260 333 7.35e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118549
AA Change: V349A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112755
Gene: ENSMUSG00000032297
AA Change: V349A

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 benign
Transcript: ENSMUST00000121266
SMART Domains Protein: ENSMUSP00000113196
Gene: ENSMUSG00000032297

DomainStartEndE-ValueType
RRM 20 95 1.05e-17 SMART
low complexity region 137 179 N/A INTRINSIC
low complexity region 183 197 N/A INTRINSIC
low complexity region 225 239 N/A INTRINSIC
RRM 261 334 7.35e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129357
SMART Domains Protein: ENSMUSP00000122167
Gene: ENSMUSG00000032297

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 benign
Transcript: ENSMUST00000143916
SMART Domains Protein: ENSMUSP00000118556
Gene: ENSMUSG00000032297

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
Meta Mutation Damage Score 0.0604 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 95% (52/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T C 16: 56,477,668 (GRCm39) I1197T probably benign Het
Atp2a1 A G 7: 126,047,707 (GRCm39) probably null Het
B3glct T C 5: 149,619,941 (GRCm39) probably null Het
Bbs9 T G 9: 22,479,019 (GRCm39) I154S probably damaging Het
Brip1 T C 11: 85,968,710 (GRCm39) Y825C probably damaging Het
Ccdc186 A T 19: 56,780,371 (GRCm39) probably null Het
Chd9 A G 8: 91,683,044 (GRCm39) T495A probably benign Het
Cxxc1 G A 18: 74,353,630 (GRCm39) C546Y probably damaging Het
Cxxc5 T C 18: 35,992,268 (GRCm39) V223A probably damaging Het
Dlc1 A G 8: 37,404,841 (GRCm39) F316S probably benign Het
Dnajc12 C A 10: 63,233,104 (GRCm39) Q82K probably benign Het
Dock8 G A 19: 25,165,746 (GRCm39) E1877K probably damaging Het
Epha3 T G 16: 63,418,612 (GRCm39) H611P probably damaging Het
Fpr-rs6 C A 17: 20,402,701 (GRCm39) C220F probably damaging Het
Fryl A G 5: 73,179,554 (GRCm39) L2951P probably damaging Het
Gbp10 T G 5: 105,368,898 (GRCm39) T314P probably damaging Het
Hbb-bs T C 7: 103,476,741 (GRCm39) N77D probably benign Het
Ints13 A T 6: 146,456,531 (GRCm39) D438E probably damaging Het
Itgb6 C T 2: 60,480,365 (GRCm39) V324M probably benign Het
Kdm7a G T 6: 39,121,373 (GRCm39) L861M possibly damaging Het
Kirrel3 A G 9: 34,924,697 (GRCm39) T302A possibly damaging Het
Lama2 A T 10: 26,907,192 (GRCm39) probably null Het
Lrp2 A T 2: 69,302,709 (GRCm39) C3007S probably damaging Het
Lypd3 G C 7: 24,337,858 (GRCm39) G75R probably damaging Het
Mastl T C 2: 23,045,988 (GRCm39) probably benign Het
Mcf2l T C 8: 13,068,919 (GRCm39) V1087A probably benign Het
Mcmdc2 C A 1: 10,001,003 (GRCm39) probably null Het
Ms4a3 A G 19: 11,615,659 (GRCm39) I39T probably damaging Het
Mylk T G 16: 34,700,643 (GRCm39) C495G probably benign Het
Myo10 A G 15: 25,804,469 (GRCm39) D1588G probably damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Nlrp1b T C 11: 71,108,122 (GRCm39) I460V probably benign Het
Nmt1 T G 11: 102,949,080 (GRCm39) S312A possibly damaging Het
Nynrin T G 14: 56,101,335 (GRCm39) S335A probably benign Het
Or2d4 T C 7: 106,543,839 (GRCm39) Y123C possibly damaging Het
Paxip1 T C 5: 27,996,222 (GRCm39) Y19C possibly damaging Het
Pcdhb2 G T 18: 37,429,577 (GRCm39) A517S probably damaging Het
Pkd2l1 A G 19: 44,140,885 (GRCm39) I559T probably damaging Het
Plec G A 15: 76,070,081 (GRCm39) Q806* probably null Het
Prss51 C T 14: 64,333,601 (GRCm39) A70V probably benign Het
Psd3 A T 8: 68,416,829 (GRCm39) I356K probably benign Het
Ptprn2 A T 12: 116,852,508 (GRCm39) I522F probably benign Het
Rab39 T C 9: 53,617,369 (GRCm39) D16G probably damaging Het
Ralgps1 T C 2: 33,033,112 (GRCm39) Q439R probably benign Het
Rapgef2 A T 3: 79,011,370 (GRCm39) D238E probably benign Het
Ripor2 G A 13: 24,890,215 (GRCm39) G697S probably damaging Het
Scn11a A T 9: 119,621,492 (GRCm39) F642I probably damaging Het
Serinc4 G A 2: 121,284,086 (GRCm39) T310I probably benign Het
Sfpq GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC GCCGCCGCAGCAGCC 4: 126,915,419 (GRCm39) probably benign Het
Slc36a3 T C 11: 55,040,712 (GRCm39) probably benign Het
Smc1b A G 15: 84,991,211 (GRCm39) S656P probably damaging Het
Sorbs1 A G 19: 40,340,776 (GRCm39) S455P probably damaging Het
Ttn C A 2: 76,720,202 (GRCm39) probably benign Het
Tyw5 T C 1: 57,440,682 (GRCm39) R27G probably damaging Het
Vmn1r209 T C 13: 22,990,400 (GRCm39) T97A possibly damaging Het
Other mutations in Celf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02186:Celf6 APN 9 59,510,808 (GRCm39) missense probably damaging 0.98
IGL03172:Celf6 APN 9 59,489,565 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- GAGTGGGAAGAGACGCTTTC -3'
(R):5'- TCACCATAACCTTTGTCCCAAG -3'

Sequencing Primer
(F):5'- AAGAGACGCTTTCCAGGC -3'
(R):5'- ATAACCTTTGTCCCAAGACTGG -3'
Posted On 2018-11-06