Incidental Mutation 'R5698:Sestd1'
ID 450767
Institutional Source Beutler Lab
Gene Symbol Sestd1
Ensembl Gene ENSMUSG00000042272
Gene Name SEC14 and spectrin domains 1
Synonyms 1500031J16Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5698 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 77010684-77110936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77048512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 135 (Y135C)
Ref Sequence ENSEMBL: ENSMUSP00000099721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]
AlphaFold Q80UK0
Predicted Effect possibly damaging
Transcript: ENSMUST00000102659
AA Change: Y135C

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: Y135C

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 13 154 2.9e-13 PFAM
SPEC 275 378 3.27e0 SMART
Blast:SPEC 381 494 1e-51 BLAST
SPEC 500 602 5.79e-2 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102660
AA Change: Y135C

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: Y135C

DomainStartEndE-ValueType
Pfam:CRAL_TRIO_2 27 154 1.5e-9 PFAM
SPEC 275 378 3.27e0 SMART
Blast:SPEC 381 494 1e-51 BLAST
SPEC 500 602 5.79e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139021
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality, short and curly tail, absent genital tubercle, blind-end colon, hydronephrosis, absent bladder and more rounded posterior contour. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik A G 11: 3,926,366 (GRCm39) K334E possibly damaging Het
Ache G A 5: 137,288,821 (GRCm39) V176M probably damaging Het
Acss3 T C 10: 106,784,605 (GRCm39) D539G probably damaging Het
Adam6b T A 12: 113,455,083 (GRCm39) D633E probably benign Het
Aldh16a1 G A 7: 44,803,831 (GRCm39) probably benign Het
Amigo2 G A 15: 97,143,607 (GRCm39) Q272* probably null Het
Aoc1l1 A G 6: 48,953,256 (GRCm39) T394A possibly damaging Het
Appbp2 A T 11: 85,100,925 (GRCm39) H171Q probably damaging Het
Arhgef18 A G 8: 3,489,499 (GRCm39) D277G probably damaging Het
Armc8 A G 9: 99,417,873 (GRCm39) V95A probably benign Het
Atp6v0a4 C T 6: 38,027,442 (GRCm39) probably null Het
Atp8a1 A T 5: 67,924,496 (GRCm39) N289K probably benign Het
Cand2 C T 6: 115,768,704 (GRCm39) L505F probably damaging Het
Ccnt2 A G 1: 127,730,965 (GRCm39) K614R probably benign Het
Col25a1 A G 3: 130,272,632 (GRCm39) probably null Het
Copa T A 1: 171,946,511 (GRCm39) L976* probably null Het
Ddx39b T C 17: 35,470,287 (GRCm39) V267A probably benign Het
Dpp4 T A 2: 62,164,655 (GRCm39) Q709L probably damaging Het
Eno4 A G 19: 58,956,904 (GRCm39) probably null Het
Exoc3 A G 13: 74,322,134 (GRCm39) L647P probably benign Het
Eya4 T C 10: 23,015,975 (GRCm39) S308G possibly damaging Het
Fbxo41 T C 6: 85,454,638 (GRCm39) T693A possibly damaging Het
Fcgbp A G 7: 27,791,447 (GRCm39) T903A possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Frem2 A G 3: 53,559,926 (GRCm39) I1527T possibly damaging Het
H13 T A 2: 152,530,875 (GRCm39) I220N probably damaging Het
Has2 T C 15: 56,531,312 (GRCm39) R468G probably damaging Het
Ighmbp2 A G 19: 3,324,538 (GRCm39) S243P probably damaging Het
Irs1 T C 1: 82,266,455 (GRCm39) H587R probably benign Het
Kcnk1 C T 8: 126,752,144 (GRCm39) T250M probably damaging Het
Kif9 T C 9: 110,339,532 (GRCm39) V458A probably benign Het
Krt14 T C 11: 100,096,451 (GRCm39) T208A probably benign Het
Mybpc3 C A 2: 90,955,194 (GRCm39) H349Q possibly damaging Het
Neurl3 T A 1: 36,305,587 (GRCm39) T207S possibly damaging Het
Nol9 T C 4: 152,135,031 (GRCm39) V388A probably damaging Het
Notch3 T C 17: 32,376,961 (GRCm39) N315D probably damaging Het
Oas1h G T 5: 121,009,045 (GRCm39) A252S probably damaging Het
Or13c7b C A 4: 43,821,183 (GRCm39) M59I probably damaging Het
Pcbp1 G A 6: 86,502,134 (GRCm39) T255M possibly damaging Het
Plec A G 15: 76,083,808 (GRCm39) V18A probably benign Het
Ppp1r17 A T 6: 56,003,529 (GRCm39) E114V probably damaging Het
Scamp5 A T 9: 57,352,716 (GRCm39) M151K possibly damaging Het
Slc22a21 T G 11: 53,842,175 (GRCm39) K534N probably benign Het
Slc25a12 T C 2: 71,112,917 (GRCm39) E448G probably damaging Het
Slco3a1 A G 7: 73,996,566 (GRCm39) L280P probably damaging Het
Sppl2b C A 10: 80,701,879 (GRCm39) probably null Het
Srd5a2 T C 17: 74,334,014 (GRCm39) E135G possibly damaging Het
Tfg A T 16: 56,521,467 (GRCm39) M183K probably damaging Het
Ticrr G A 7: 79,328,881 (GRCm39) M673I probably benign Het
Tm4sf20 T G 1: 82,745,958 (GRCm39) M61L probably benign Het
Ttll8 A T 15: 88,823,209 (GRCm39) S85T possibly damaging Het
Uggt2 G A 14: 119,280,138 (GRCm39) S780F probably damaging Het
Uroc1 T C 6: 90,324,302 (GRCm39) L442P probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y possibly damaging Het
Znrf3 A G 11: 5,239,006 (GRCm39) probably benign Het
Zswim2 C A 2: 83,755,527 (GRCm39) D125Y possibly damaging Het
Other mutations in Sestd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Sestd1 APN 2 77,042,796 (GRCm39) missense possibly damaging 0.53
IGL00725:Sestd1 APN 2 77,018,866 (GRCm39) missense probably benign
IGL01317:Sestd1 APN 2 77,022,889 (GRCm39) missense possibly damaging 0.73
IGL01649:Sestd1 APN 2 77,029,389 (GRCm39) missense probably damaging 1.00
IGL01953:Sestd1 APN 2 77,042,813 (GRCm39) missense possibly damaging 0.91
IGL02439:Sestd1 APN 2 77,027,174 (GRCm39) missense possibly damaging 0.49
R0408:Sestd1 UTSW 2 77,022,137 (GRCm39) missense probably damaging 1.00
R0562:Sestd1 UTSW 2 77,061,066 (GRCm39) missense probably benign 0.10
R0788:Sestd1 UTSW 2 77,022,060 (GRCm39) missense probably damaging 1.00
R1518:Sestd1 UTSW 2 77,071,976 (GRCm39) missense probably damaging 1.00
R2119:Sestd1 UTSW 2 77,042,867 (GRCm39) missense probably benign 0.00
R4659:Sestd1 UTSW 2 77,042,843 (GRCm39) missense probably null 0.75
R5927:Sestd1 UTSW 2 77,017,503 (GRCm39) missense probably benign 0.00
R7046:Sestd1 UTSW 2 77,022,910 (GRCm39) missense probably benign 0.32
R8361:Sestd1 UTSW 2 77,017,572 (GRCm39) missense probably benign 0.15
R8468:Sestd1 UTSW 2 77,022,090 (GRCm39) missense probably benign 0.32
R8962:Sestd1 UTSW 2 77,042,708 (GRCm39) missense probably benign
R9406:Sestd1 UTSW 2 77,075,421 (GRCm39) start gained probably benign
X0023:Sestd1 UTSW 2 77,029,376 (GRCm39) missense probably benign 0.05
X0057:Sestd1 UTSW 2 77,048,537 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- ACACAGAATACTGCTGTGCC -3'
(R):5'- TAAAGCAGATAACCATGACGTATTG -3'

Sequencing Primer
(F):5'- CTAGCATCAGGACTCTAGTCAAGTG -3'
(R):5'- GCAGATAACCATGACGTATTGAATTG -3'
Posted On 2017-01-03