Incidental Mutation 'IGL03036:Csde1'
ID 408693
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csde1
Ensembl Gene ENSMUSG00000068823
Gene Name cold shock domain containing E1, RNA binding
Synonyms unr, D3Jfr1
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL03036
Quality Score
Status
Chromosome 3
Chromosomal Location 102927742-102965502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 102951155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 249 (P249S)
Ref Sequence ENSEMBL: ENSMUSP00000143503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029446] [ENSMUST00000195889] [ENSMUST00000197488] [ENSMUST00000197827] [ENSMUST00000199571] [ENSMUST00000198180] [ENSMUST00000199420] [ENSMUST00000199240]
AlphaFold Q91W50
Predicted Effect probably damaging
Transcript: ENSMUST00000029446
AA Change: P249S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: P249S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 187 248 1.52e-19 SMART
CSP 350 413 6.22e-16 SMART
CSP 520 582 2.86e-15 SMART
CSP 675 738 2.2e-16 SMART
Pfam:SUZ-C 757 788 3.3e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000195889
AA Change: P120S

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142647
Gene: ENSMUSG00000068823
AA Change: P120S

DomainStartEndE-ValueType
CSP 58 119 9e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197154
Predicted Effect possibly damaging
Transcript: ENSMUST00000197488
AA Change: P218S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: P218S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 156 217 1.52e-19 SMART
CSP 319 382 6.22e-16 SMART
CSP 489 551 2.86e-15 SMART
CSP 644 707 2.2e-16 SMART
Pfam:SUZ-C 726 757 1.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000197827
AA Change: P249S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: P249S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 187 248 1.52e-19 SMART
CSP 350 413 6.22e-16 SMART
CSP 520 582 2.86e-15 SMART
CSP 675 738 2.2e-16 SMART
Pfam:SUZ-C 757 788 3.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197939
Predicted Effect possibly damaging
Transcript: ENSMUST00000199571
AA Change: P218S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: P218S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 156 217 1.52e-19 SMART
CSP 319 382 6.22e-16 SMART
CSP 489 551 2.86e-15 SMART
CSP 644 707 2.2e-16 SMART
Pfam:SUZ-C 725 758 5.4e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000198180
AA Change: P218S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: P218S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 156 217 1.52e-19 SMART
CSP 319 382 6.22e-16 SMART
CSP 489 551 2.86e-15 SMART
CSP 644 707 2.2e-16 SMART
Pfam:SUZ-C 725 758 5.4e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199420
AA Change: P218S

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: P218S

DomainStartEndE-ValueType
CSP 27 90 3.11e-16 SMART
CSP 156 217 1.52e-19 SMART
CSP 319 382 6.22e-16 SMART
CSP 489 551 2.86e-15 SMART
CSP 644 707 2.2e-16 SMART
Pfam:SUZ-C 725 758 5.4e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000199240
AA Change: P119S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: P119S

DomainStartEndE-ValueType
CSP 57 118 9e-22 SMART
CSP 220 283 3.8e-18 SMART
CSP 390 452 1.7e-17 SMART
CSP 545 608 1.4e-18 SMART
Pfam:SUZ-C 626 659 6.2e-13 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000198174
AA Change: P70S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198906
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cep170 A G 1: 176,596,903 (GRCm39) S485P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fblim1 G T 4: 141,310,435 (GRCm39) R276S possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Maff C A 15: 79,241,658 (GRCm39) S25* probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Nup133 A T 8: 124,673,333 (GRCm39) I66K probably benign Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Ptk2b T A 14: 66,411,344 (GRCm39) probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L probably benign Het
Other mutations in Csde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Csde1 APN 3 102,947,841 (GRCm39) missense possibly damaging 0.80
IGL01419:Csde1 APN 3 102,946,086 (GRCm39) missense probably damaging 1.00
IGL02147:Csde1 APN 3 102,947,250 (GRCm39) missense probably damaging 1.00
IGL02161:Csde1 APN 3 102,957,654 (GRCm39) missense probably damaging 0.99
IGL02442:Csde1 APN 3 102,962,135 (GRCm39) missense probably benign 0.20
R0526:Csde1 UTSW 3 102,963,742 (GRCm39) missense possibly damaging 0.76
R0727:Csde1 UTSW 3 102,950,954 (GRCm39) missense probably benign
R1738:Csde1 UTSW 3 102,936,493 (GRCm39) intron probably benign
R1744:Csde1 UTSW 3 102,957,631 (GRCm39) missense probably benign 0.31
R2007:Csde1 UTSW 3 102,952,107 (GRCm39) missense probably damaging 1.00
R4665:Csde1 UTSW 3 102,954,388 (GRCm39) missense probably damaging 1.00
R4806:Csde1 UTSW 3 102,963,685 (GRCm39) unclassified probably benign
R5202:Csde1 UTSW 3 102,947,250 (GRCm39) missense probably damaging 1.00
R5298:Csde1 UTSW 3 102,954,525 (GRCm39) splice site probably null
R5429:Csde1 UTSW 3 102,960,157 (GRCm39) missense possibly damaging 0.75
R5896:Csde1 UTSW 3 102,947,859 (GRCm39) intron probably benign
R6076:Csde1 UTSW 3 102,948,545 (GRCm39) missense possibly damaging 0.82
R6093:Csde1 UTSW 3 102,960,218 (GRCm39) missense probably damaging 1.00
R6118:Csde1 UTSW 3 102,962,070 (GRCm39) missense probably benign 0.45
R6213:Csde1 UTSW 3 102,947,830 (GRCm39) missense probably damaging 1.00
R6263:Csde1 UTSW 3 102,947,333 (GRCm39) missense probably benign 0.05
R6653:Csde1 UTSW 3 102,960,184 (GRCm39) missense probably damaging 1.00
R6894:Csde1 UTSW 3 102,951,972 (GRCm39) missense possibly damaging 0.56
R7155:Csde1 UTSW 3 102,947,269 (GRCm39) missense probably damaging 0.99
R8253:Csde1 UTSW 3 102,946,037 (GRCm39) missense probably damaging 0.98
R8270:Csde1 UTSW 3 102,946,071 (GRCm39) missense possibly damaging 0.49
R8307:Csde1 UTSW 3 102,946,389 (GRCm39) intron probably benign
R9036:Csde1 UTSW 3 102,950,976 (GRCm39) missense probably damaging 1.00
R9628:Csde1 UTSW 3 102,962,825 (GRCm39) missense probably benign 0.05
Posted On 2016-08-02