Incidental Mutation 'IGL02442:Csde1'
ID293471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csde1
Ensembl Gene ENSMUSG00000068823
Gene Namecold shock domain containing E1, RNA binding
Synonymsunr, D3Jfr1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.943) question?
Stock #IGL02442
Quality Score
Status
Chromosome3
Chromosomal Location103020426-103058186 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103054819 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 649 (C649R)
Ref Sequence ENSEMBL: ENSMUSP00000143028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029445] [ENSMUST00000029446] [ENSMUST00000128264] [ENSMUST00000196355] [ENSMUST00000197488] [ENSMUST00000197678] [ENSMUST00000197827] [ENSMUST00000198180] [ENSMUST00000199049] [ENSMUST00000199240] [ENSMUST00000199367] [ENSMUST00000199420] [ENSMUST00000199571] [ENSMUST00000200069] [ENSMUST00000200457]
Predicted Effect probably benign
Transcript: ENSMUST00000029445
SMART Domains Protein: ENSMUSP00000029445
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
RAS 1 166 1.09e-120 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029446
AA Change: C680R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: C680R

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 probably benign
Transcript: ENSMUST00000128264
Predicted Effect probably benign
Transcript: ENSMUST00000196355
SMART Domains Protein: ENSMUSP00000142438
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
RAS 1 166 1.09e-120 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196685
Predicted Effect probably benign
Transcript: ENSMUST00000197488
AA Change: C649R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: C649R

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 benign
Transcript: ENSMUST00000197678
SMART Domains Protein: ENSMUSP00000142603
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
RAS 1 150 4.08e-102 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197827
AA Change: C680R

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: C680R

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: ENSMUST00000197844
Predicted Effect probably benign
Transcript: ENSMUST00000198174
Predicted Effect probably benign
Transcript: ENSMUST00000198180
AA Change: C649R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: C649R

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 benign
Transcript: ENSMUST00000199049
SMART Domains Protein: ENSMUSP00000143644
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
RAS 1 166 5.3e-123 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199240
AA Change: C550R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: C550R

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 probably benign
Transcript: ENSMUST00000199367
SMART Domains Protein: ENSMUSP00000143620
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
small_GTPase 1 74 1.2e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199420
AA Change: C649R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: C649R

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 benign
Transcript: ENSMUST00000199571
AA Change: C649R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: C649R

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 noncoding transcript
Transcript: ENSMUST00000199776
Predicted Effect probably benign
Transcript: ENSMUST00000200069
SMART Domains Protein: ENSMUSP00000143391
Gene: ENSMUSG00000027852

DomainStartEndE-ValueType
RAS 1 166 1.09e-120 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200457
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 V116A probably benign Het
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Matn3 T A 12: 8,967,678 C443* probably null Het
Mup8 T A 4: 60,219,695 R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Ndfip1 C T 18: 38,447,736 S66L probably damaging Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Sri T A 5: 8,062,411 M78K probably damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in Csde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Csde1 APN 3 103040525 missense possibly damaging 0.80
IGL01419:Csde1 APN 3 103038770 missense probably damaging 1.00
IGL02147:Csde1 APN 3 103039934 missense probably damaging 1.00
IGL02161:Csde1 APN 3 103050338 missense probably damaging 0.99
IGL03036:Csde1 APN 3 103043839 missense probably damaging 0.99
R0526:Csde1 UTSW 3 103056426 missense possibly damaging 0.76
R0727:Csde1 UTSW 3 103043638 missense probably benign
R1738:Csde1 UTSW 3 103029177 intron probably benign
R1744:Csde1 UTSW 3 103050315 missense probably benign 0.31
R2007:Csde1 UTSW 3 103044791 missense probably damaging 1.00
R4665:Csde1 UTSW 3 103047072 missense probably damaging 1.00
R4806:Csde1 UTSW 3 103056369 unclassified probably benign
R5202:Csde1 UTSW 3 103039934 missense probably damaging 1.00
R5298:Csde1 UTSW 3 103047209 splice site probably null
R5429:Csde1 UTSW 3 103052841 missense possibly damaging 0.75
R5896:Csde1 UTSW 3 103040543 intron probably benign
R6076:Csde1 UTSW 3 103041229 missense possibly damaging 0.82
R6093:Csde1 UTSW 3 103052902 missense probably damaging 1.00
R6118:Csde1 UTSW 3 103054754 missense probably benign 0.45
R6213:Csde1 UTSW 3 103040514 missense probably damaging 1.00
R6263:Csde1 UTSW 3 103040017 missense probably benign 0.05
R6653:Csde1 UTSW 3 103052868 missense probably damaging 1.00
R6894:Csde1 UTSW 3 103044656 missense possibly damaging 0.56
R7155:Csde1 UTSW 3 103039953 missense probably damaging 0.99
R8253:Csde1 UTSW 3 103038721 missense probably damaging 0.98
R8270:Csde1 UTSW 3 103038755 missense possibly damaging 0.49
R8307:Csde1 UTSW 3 103039073 intron probably benign
Posted On2015-04-16