Incidental Mutation 'IGL00164:Cuedc2'
ID 692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cuedc2
Ensembl Gene ENSMUSG00000036748
Gene Name CUE domain containing 2
Synonyms 3010002G01Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.300) question?
Stock # IGL00164
Quality Score
Status
Chromosome 19
Chromosomal Location 46318251-46327141 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46320359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 71 (I71F)
Ref Sequence ENSEMBL: ENSMUSP00000129589 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026256] [ENSMUST00000041391] [ENSMUST00000051234] [ENSMUST00000096029] [ENSMUST00000167861] [ENSMUST00000177667] [ENSMUST00000224447] [ENSMUST00000223917]
AlphaFold Q9CXX9
Predicted Effect probably benign
Transcript: ENSMUST00000026256
SMART Domains Protein: ENSMUSP00000026256
Gene: ENSMUSG00000025226

DomainStartEndE-ValueType
Pfam:F-box 18 63 1.9e-6 PFAM
low complexity region 76 84 N/A INTRINSIC
LRR 113 138 1.01e1 SMART
LRR 139 164 1.89e-1 SMART
LRR 165 190 2.27e-4 SMART
LRR 192 217 3.47e0 SMART
LRR 218 243 2.57e-3 SMART
LRR 244 269 2.05e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041391
SMART Domains Protein: ENSMUSP00000039728
Gene: ENSMUSG00000037126

DomainStartEndE-ValueType
low complexity region 48 63 N/A INTRINSIC
low complexity region 79 99 N/A INTRINSIC
low complexity region 329 368 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
Sec7 519 708 5.08e-75 SMART
low complexity region 714 724 N/A INTRINSIC
low complexity region 736 744 N/A INTRINSIC
PH 757 871 1.87e-13 SMART
Blast:Sec7 900 952 1e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000051234
AA Change: I71F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053469
Gene: ENSMUSG00000036748
AA Change: I71F

DomainStartEndE-ValueType
Pfam:CUE 144 183 4.6e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000096029
SMART Domains Protein: ENSMUSP00000093729
Gene: ENSMUSG00000037126

DomainStartEndE-ValueType
low complexity region 48 63 N/A INTRINSIC
low complexity region 79 99 N/A INTRINSIC
low complexity region 329 368 N/A INTRINSIC
low complexity region 419 431 N/A INTRINSIC
low complexity region 445 466 N/A INTRINSIC
Sec7 520 709 5.08e-75 SMART
low complexity region 715 725 N/A INTRINSIC
low complexity region 737 745 N/A INTRINSIC
PH 758 872 1.87e-13 SMART
Blast:Sec7 901 953 1e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000167861
AA Change: I71F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129589
Gene: ENSMUSG00000036748
AA Change: I71F

DomainStartEndE-ValueType
Pfam:CUE 144 183 5.7e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177667
SMART Domains Protein: ENSMUSP00000137489
Gene: ENSMUSG00000025226

DomainStartEndE-ValueType
Pfam:F-box 18 63 2.1e-6 PFAM
low complexity region 76 84 N/A INTRINSIC
LRR 113 138 1.01e1 SMART
LRR 139 164 1.89e-1 SMART
LRR 165 190 2.27e-4 SMART
LRR 192 217 3.47e0 SMART
LRR 218 243 2.57e-3 SMART
LRR 244 269 2.05e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224444
Predicted Effect probably benign
Transcript: ENSMUST00000224447
Predicted Effect probably benign
Transcript: ENSMUST00000223917
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T A 13: 77,471,477 (GRCm39) probably benign Het
Abcg4 A G 9: 44,186,439 (GRCm39) probably benign Het
Actr2 A G 11: 20,030,015 (GRCm39) probably benign Het
Adgrb3 A G 1: 25,267,581 (GRCm39) L843P probably benign Het
Cdk19 G A 10: 40,312,161 (GRCm39) D137N probably benign Het
Dag1 A G 9: 108,086,487 (GRCm39) V218A probably damaging Het
Dlg5 A C 14: 24,208,532 (GRCm39) S868R possibly damaging Het
Ecsit C T 9: 21,984,310 (GRCm39) G340D probably benign Het
Fkbp8 A G 8: 70,987,211 (GRCm39) M358V probably damaging Het
Gckr G A 5: 31,456,920 (GRCm39) V79M probably damaging Het
Gpd1 C A 15: 99,618,532 (GRCm39) D172E probably benign Het
Josd2 T C 7: 44,120,740 (GRCm39) probably benign Het
Kcna2 T C 3: 107,011,946 (GRCm39) S176P probably damaging Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Notch1 G A 2: 26,350,058 (GRCm39) R2361W probably damaging Het
Or5w1 T C 2: 87,486,582 (GRCm39) M228V probably benign Het
Palb2 A C 7: 121,720,271 (GRCm39) probably benign Het
Pan2 C T 10: 128,148,795 (GRCm39) Q452* probably null Het
Pcnx1 T C 12: 81,941,875 (GRCm39) V91A probably damaging Het
Rgs22 T A 15: 36,100,077 (GRCm39) I213F possibly damaging Het
Serpina3b G T 12: 104,105,046 (GRCm39) W407C probably benign Het
Sf3b2 T C 19: 5,329,615 (GRCm39) D687G probably benign Het
Slc8a3 T C 12: 81,361,343 (GRCm39) E492G probably benign Het
Sox4 C A 13: 29,136,956 (GRCm39) G17W probably damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Surf1 C T 2: 26,803,584 (GRCm39) probably null Het
Tmem190 T C 7: 4,785,998 (GRCm39) probably benign Het
Zfhx2 A G 14: 55,302,483 (GRCm39) S1834P possibly damaging Het
Zfp607a G A 7: 27,577,214 (GRCm39) E95K possibly damaging Het
Other mutations in Cuedc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Cuedc2 APN 19 46,321,088 (GRCm39) missense probably damaging 1.00
IGL01733:Cuedc2 APN 19 46,321,112 (GRCm39) missense probably damaging 1.00
R1656:Cuedc2 UTSW 19 46,320,427 (GRCm39) missense probably damaging 0.99
R1778:Cuedc2 UTSW 19 46,320,079 (GRCm39) missense probably benign 0.00
R2905:Cuedc2 UTSW 19 46,321,088 (GRCm39) missense probably benign 0.16
R5801:Cuedc2 UTSW 19 46,319,796 (GRCm39) missense probably damaging 0.99
R5874:Cuedc2 UTSW 19 46,319,824 (GRCm39) missense possibly damaging 0.71
R8511:Cuedc2 UTSW 19 46,319,358 (GRCm39) critical splice donor site probably null
R9483:Cuedc2 UTSW 19 46,319,399 (GRCm39) missense probably benign 0.10
R9742:Cuedc2 UTSW 19 46,319,727 (GRCm39) critical splice donor site probably null
Posted On 2011-07-12