Incidental Mutation 'IGL01142:Yrdc'
ID 50974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yrdc
Ensembl Gene ENSMUSG00000028889
Gene Name yrdC domain containing (E.coli)
Synonyms IRIP
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL01142
Quality Score
Status
Chromosome 4
Chromosomal Location 124744552-124749035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124747787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 97 (F97L)
Ref Sequence ENSEMBL: ENSMUSP00000114150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030723] [ENSMUST00000064444] [ENSMUST00000102628] [ENSMUST00000106190] [ENSMUST00000106193] [ENSMUST00000137769] [ENSMUST00000144851] [ENSMUST00000163946] [ENSMUST00000185036]
AlphaFold Q3U5F4
Predicted Effect probably benign
Transcript: ENSMUST00000030723
SMART Domains Protein: ENSMUSP00000030723
Gene: ENSMUSG00000028890

DomainStartEndE-ValueType
ZnF_C2H2 139 163 1.22e-4 SMART
ZnF_C2H2 169 193 6.42e-4 SMART
ZnF_C2H2 199 223 2.4e-3 SMART
ZnF_C2H2 228 252 2.57e-3 SMART
ZnF_C2H2 258 282 2.57e-3 SMART
ZnF_C2H2 288 312 7.37e-4 SMART
low complexity region 429 456 N/A INTRINSIC
low complexity region 500 526 N/A INTRINSIC
low complexity region 545 558 N/A INTRINSIC
low complexity region 628 638 N/A INTRINSIC
low complexity region 656 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064444
SMART Domains Protein: ENSMUSP00000066000
Gene: ENSMUSG00000042763

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 31 46 N/A INTRINSIC
low complexity region 55 79 N/A INTRINSIC
Pfam:Glyco_hydro_99 95 445 8.7e-160 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102628
AA Change: F250L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099688
Gene: ENSMUSG00000028889
AA Change: F250L

DomainStartEndE-ValueType
low complexity region 32 63 N/A INTRINSIC
Pfam:Sua5_yciO_yrdC 76 256 1.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106190
SMART Domains Protein: ENSMUSP00000101796
Gene: ENSMUSG00000078570

DomainStartEndE-ValueType
Pfam:DUF4726 10 110 2e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106193
SMART Domains Protein: ENSMUSP00000101799
Gene: ENSMUSG00000028890

DomainStartEndE-ValueType
ZnF_C2H2 139 163 1.22e-4 SMART
ZnF_C2H2 169 193 6.42e-4 SMART
ZnF_C2H2 199 223 2.4e-3 SMART
ZnF_C2H2 228 252 2.57e-3 SMART
ZnF_C2H2 258 282 2.57e-3 SMART
ZnF_C2H2 288 312 7.37e-4 SMART
low complexity region 429 456 N/A INTRINSIC
low complexity region 500 526 N/A INTRINSIC
low complexity region 545 558 N/A INTRINSIC
low complexity region 628 638 N/A INTRINSIC
low complexity region 656 669 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125776
Predicted Effect probably benign
Transcript: ENSMUST00000137769
Predicted Effect probably damaging
Transcript: ENSMUST00000144851
AA Change: F97L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114150
Gene: ENSMUSG00000028889
AA Change: F97L

DomainStartEndE-ValueType
Pfam:Sua5_yciO_yrdC 1 103 2.5e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184704
Predicted Effect probably benign
Transcript: ENSMUST00000163946
Predicted Effect probably benign
Transcript: ENSMUST00000185036
SMART Domains Protein: ENSMUSP00000139121
Gene: ENSMUSG00000078570

DomainStartEndE-ValueType
low complexity region 66 89 N/A INTRINSIC
low complexity region 123 137 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc3 C T 2: 19,302,709 (GRCm39) probably benign Het
Cacnb3 T A 15: 98,539,883 (GRCm39) L269* probably null Het
Calu T C 6: 29,366,207 (GRCm39) probably null Het
Cep97 A G 16: 55,742,561 (GRCm39) S129P probably damaging Het
Cpt1b T C 15: 89,303,196 (GRCm39) M620V probably benign Het
Dnah7b T C 1: 46,234,538 (GRCm39) probably null Het
Evi5 T C 5: 107,963,477 (GRCm39) K410R probably benign Het
Gad2 T C 2: 22,571,297 (GRCm39) probably benign Het
Helb A T 10: 119,947,049 (GRCm39) V88D probably damaging Het
Hexim2 A G 11: 103,024,960 (GRCm39) E19G probably benign Het
Klhl25 T C 7: 75,516,344 (GRCm39) Y112H probably damaging Het
Lin52 T C 12: 84,503,009 (GRCm39) probably benign Het
Ms4a4c A G 19: 11,403,614 (GRCm39) T157A probably benign Het
Or12e8 T C 2: 87,187,889 (GRCm39) F34L possibly damaging Het
Or7g17 A G 9: 18,768,830 (GRCm39) N303S probably damaging Het
Plxnb1 A G 9: 108,931,765 (GRCm39) T472A probably benign Het
Sez6 T G 11: 77,864,642 (GRCm39) V534G probably damaging Het
Sim1 C A 10: 50,786,767 (GRCm39) T333K probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem115 A G 9: 107,411,844 (GRCm39) N56S possibly damaging Het
Ubac1 T C 2: 25,896,580 (GRCm39) I150V probably damaging Het
Vps13a T C 19: 16,664,479 (GRCm39) K1455E possibly damaging Het
Other mutations in Yrdc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Yrdc APN 4 124,747,754 (GRCm39) missense probably damaging 1.00
R0525:Yrdc UTSW 4 124,745,559 (GRCm39) missense probably damaging 1.00
R1162:Yrdc UTSW 4 124,748,254 (GRCm39) unclassified probably benign
R1220:Yrdc UTSW 4 124,748,329 (GRCm39) missense possibly damaging 0.62
R1952:Yrdc UTSW 4 124,745,739 (GRCm39) missense probably benign 0.00
R3829:Yrdc UTSW 4 124,745,554 (GRCm39) start codon destroyed probably null 0.92
R7121:Yrdc UTSW 4 124,744,748 (GRCm39) missense probably benign 0.06
R7272:Yrdc UTSW 4 124,744,820 (GRCm39) missense probably benign 0.23
R8169:Yrdc UTSW 4 124,744,880 (GRCm39) missense probably benign
R8837:Yrdc UTSW 4 124,747,677 (GRCm39) missense probably benign 0.01
R9159:Yrdc UTSW 4 124,747,811 (GRCm39) critical splice donor site probably null
Z1176:Yrdc UTSW 4 124,745,290 (GRCm39) unclassified probably benign
Posted On 2013-06-21