Incidental Mutation 'R6653:Csde1'
ID 526499
Institutional Source Beutler Lab
Gene Symbol Csde1
Ensembl Gene ENSMUSG00000068823
Gene Name cold shock domain containing E1, RNA binding
Synonyms unr, D3Jfr1
MMRRC Submission 044774-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6653 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 102927742-102965502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 102960184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 604 (P604T)
Ref Sequence ENSEMBL: ENSMUSP00000143503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029446] [ENSMUST00000197488] [ENSMUST00000197827] [ENSMUST00000198180] [ENSMUST00000199240] [ENSMUST00000199420] [ENSMUST00000199571]
AlphaFold Q91W50
Predicted Effect probably damaging
Transcript: ENSMUST00000029446
AA Change: P604T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: P604T

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: ENSMUST00000196685
Predicted Effect probably damaging
Transcript: ENSMUST00000197488
AA Change: P573T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: P573T

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: P604T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: P604T

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 damaging
Transcript: ENSMUST00000198180
AA Change: P573T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: P573T

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: ENSMUST00000199240
AA Change: P474T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: P474T

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 damaging
Transcript: ENSMUST00000199420
AA Change: P573T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: P573T

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: ENSMUST00000199571
AA Change: P573T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: P573T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,945,229 (GRCm39) L435R probably benign Het
Abcc2 T A 19: 43,800,941 (GRCm39) H627Q probably benign Het
Ankhd1 A T 18: 36,733,836 (GRCm39) probably null Het
Ankrd50 T A 3: 38,511,510 (GRCm39) I286F probably damaging Het
Asb15 A G 6: 24,562,632 (GRCm39) N198S probably benign Het
B4galnt2 T A 11: 95,782,747 (GRCm39) M22L probably benign Het
Bcdin3d T C 15: 99,368,696 (GRCm39) T168A probably damaging Het
Bmp1 A T 14: 70,728,058 (GRCm39) W624R probably damaging Het
Cdh4 C T 2: 179,422,221 (GRCm39) A115V probably benign Het
Cfap53 A G 18: 74,433,280 (GRCm39) T122A probably damaging Het
Chsy1 A G 7: 65,759,941 (GRCm39) K95E probably benign Het
Cts7 A T 13: 61,502,817 (GRCm39) L237Q probably damaging Het
Cutal C T 2: 34,775,933 (GRCm39) T88I probably benign Het
Dlg4 G T 11: 69,914,779 (GRCm39) probably benign Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Eif2b4 C T 5: 31,349,551 (GRCm39) E53K possibly damaging Het
Erp44 T C 4: 48,205,130 (GRCm39) I288V probably null Het
Fcamr A G 1: 130,740,939 (GRCm39) T453A possibly damaging Het
Glb1l3 T C 9: 26,770,884 (GRCm39) T61A probably benign Het
Gpr26 T C 7: 131,585,830 (GRCm39) S267P probably benign Het
Heatr6 A T 11: 83,650,191 (GRCm39) T216S probably benign Het
Hephl1 C T 9: 14,993,260 (GRCm39) V525I probably damaging Het
Jak2 T A 19: 29,266,110 (GRCm39) I517N probably benign Het
Kbtbd4 T A 2: 90,740,113 (GRCm39) Y499* probably null Het
Kif1a A T 1: 93,005,420 (GRCm39) I118N probably damaging Het
Klhdc7b A G 15: 89,271,292 (GRCm39) S725G probably benign Het
Mfsd13a T C 19: 46,356,305 (GRCm39) F137L probably damaging Het
Myo7a T A 7: 97,703,710 (GRCm39) Y1977F probably damaging Het
Naip2 T G 13: 100,298,352 (GRCm39) K561N probably benign Het
Naip2 C T 13: 100,288,644 (GRCm39) V1194I probably benign Het
Nkx2-4 G T 2: 146,925,860 (GRCm39) A334E possibly damaging Het
Nlrp9c T A 7: 26,070,747 (GRCm39) N945Y probably damaging Het
Or2z2 A T 11: 58,346,394 (GRCm39) I127N probably damaging Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or8g20 A G 9: 39,396,048 (GRCm39) V164A probably benign Het
Pcdha7 A G 18: 37,107,539 (GRCm39) Q188R probably benign Het
Phf3 A T 1: 30,844,104 (GRCm39) S1618R possibly damaging Het
Phip C A 9: 82,782,794 (GRCm39) E884* probably null Het
Plxnc1 C A 10: 94,779,738 (GRCm39) V235L probably damaging Het
Qser1 A G 2: 104,610,605 (GRCm39) V1226A possibly damaging Het
Ros1 G T 10: 52,018,299 (GRCm39) S786R probably damaging Het
Rps6ka5 A G 12: 100,517,795 (GRCm39) S769P probably damaging Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Specc1 T G 11: 62,037,244 (GRCm39) S813A probably damaging Het
Spry1 T C 3: 37,696,871 (GRCm39) I38T probably damaging Het
Tagap T C 17: 8,152,546 (GRCm39) V577A probably benign Het
Tmem44 T C 16: 30,356,369 (GRCm39) D110G probably damaging Het
Ubn2 A G 6: 38,411,397 (GRCm39) E97G possibly damaging Het
Ubr4 C A 4: 139,200,935 (GRCm39) H4706Q possibly damaging Het
Usp25 T A 16: 76,856,176 (GRCm39) N256K probably benign Het
Vmn2r112 T A 17: 22,820,160 (GRCm39) L11Q probably null Het
Wnt2b C A 3: 104,860,502 (GRCm39) R135L probably damaging Het
Zfp60 T C 7: 27,448,151 (GRCm39) F273S 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
IGL03036:Csde1 APN 3 102,951,155 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AGTCATTGCAGAGTCATTGCATAAC -3'
(R):5'- TATAGAACTAAAGCCTAAGCACAGG -3'

Sequencing Primer
(F):5'- AATTGAAATTCTTGGAAAGTCTGAAC -3'
(R):5'- GCCTAAGCACAGGAGGAGC -3'
Posted On 2018-07-23