Incidental Mutation 'R1518:Sestd1'
ID 167155
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 # R1518 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 77010684-77110936 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77071976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 49 (Y49H)
Ref Sequence ENSEMBL: ENSMUSP00000099721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]
AlphaFold Q80UK0
Predicted Effect probably damaging
Transcript: ENSMUST00000102659
AA Change: Y49H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: Y49H

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 probably damaging
Transcript: ENSMUST00000102660
AA Change: Y49H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: Y49H

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: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,666 (GRCm39) M493L probably benign Het
Abtb2 G A 2: 103,539,629 (GRCm39) V665I probably benign Het
Adamtsl1 C G 4: 86,260,840 (GRCm39) S1017W probably damaging Het
Aebp1 A G 11: 5,821,469 (GRCm39) T623A possibly damaging Het
Alox5 A G 6: 116,390,741 (GRCm39) F470S probably damaging Het
Angpt2 T C 8: 18,755,855 (GRCm39) E204G probably benign Het
Apip A G 2: 102,919,838 (GRCm39) E138G probably damaging Het
Apob C T 12: 8,039,207 (GRCm39) T466M probably benign Het
Atp2b3 GACAACA GACA X: 72,588,729 (GRCm39) probably benign Het
Atxn7l3 A T 11: 102,185,340 (GRCm39) D56E probably benign Het
Cacna1s C T 1: 136,026,289 (GRCm39) A1092V probably damaging Het
Calr3 A G 8: 73,181,044 (GRCm39) F183L probably damaging Het
Cd300lb T A 11: 114,816,877 (GRCm39) D55V probably benign Het
Chid1 A C 7: 141,108,384 (GRCm39) V145G probably damaging Het
Chst15 T C 7: 131,871,855 (GRCm39) N142S probably damaging Het
Cnot4 C T 6: 35,028,389 (GRCm39) R409Q probably damaging Het
Cope T G 8: 70,765,411 (GRCm39) I287S possibly damaging Het
Cpd A T 11: 76,731,212 (GRCm39) probably null Het
Cux1 G T 5: 136,337,133 (GRCm39) T785K probably benign Het
Dennd2b A G 7: 109,156,562 (GRCm39) S63P probably damaging Het
Dthd1 T C 5: 62,979,383 (GRCm39) S348P probably damaging Het
Eno3 G T 11: 70,551,903 (GRCm39) E64* probably null Het
Entpd1 T A 19: 40,713,507 (GRCm39) Y184* probably null Het
Erv3 A T 2: 131,698,083 (GRCm39) M92K probably benign Het
Flg2 T A 3: 93,110,445 (GRCm39) H824Q unknown Het
Fndc9 G A 11: 46,128,930 (GRCm39) G150S probably benign Het
Gdap1 G A 1: 17,217,169 (GRCm39) V43I possibly damaging Het
Ifi213 C A 1: 173,417,229 (GRCm39) L394F probably damaging Het
Ift88 A G 14: 57,668,085 (GRCm39) T29A possibly damaging Het
Kdm4c A T 4: 74,252,063 (GRCm39) I437L probably benign Het
Kras T A 6: 145,177,977 (GRCm39) E98D probably benign Het
Lcorl C A 5: 45,891,543 (GRCm39) R353I possibly damaging Het
Lrrc4c A G 2: 97,460,921 (GRCm39) I516V probably benign Het
Lrrc51 T C 7: 101,564,803 (GRCm39) D85G probably damaging Het
Lypd6b G A 2: 49,837,504 (GRCm39) A159T probably damaging Het
Magel2 G A 7: 62,030,188 (GRCm39) V1031I unknown Het
Man1c1 A T 4: 134,308,100 (GRCm39) N338K probably benign Het
Mdn1 C A 4: 32,739,977 (GRCm39) Q3744K probably damaging Het
Micu3 G T 8: 40,788,893 (GRCm39) A135S possibly damaging Het
Muc4 T C 16: 32,569,167 (GRCm39) S76P possibly damaging Het
Nin T G 12: 70,061,547 (GRCm39) T2106P probably benign Het
Nlrp4e T C 7: 23,021,268 (GRCm39) I585T probably benign Het
Npy1r C T 8: 67,156,847 (GRCm39) A89V probably benign Het
Or11g27 T C 14: 50,771,622 (GRCm39) V251A probably damaging Het
Or4c115 G A 2: 88,927,944 (GRCm39) A109V probably benign Het
Or52ae7 T A 7: 103,119,249 (GRCm39) M1K probably null Het
Or52n3 T A 7: 104,530,515 (GRCm39) Y200* probably null Het
Or5w13 A T 2: 87,523,872 (GRCm39) M118K probably damaging Het
Parp14 T G 16: 35,677,008 (GRCm39) T987P possibly damaging Het
Pde7b A T 10: 20,423,867 (GRCm39) V3E probably damaging Het
Pdlim7 G T 13: 55,656,107 (GRCm39) Y104* probably null Het
Pgm2l1 A G 7: 99,910,932 (GRCm39) K292R probably benign Het
Plec T C 15: 76,072,401 (GRCm39) E728G probably damaging Het
Plppr4 T C 3: 117,129,152 (GRCm39) Y105C probably damaging Het
Polr1c A T 17: 46,558,821 (GRCm39) N23K possibly damaging Het
Ppp5c A T 7: 16,743,861 (GRCm39) M191K probably damaging Het
Prkca T C 11: 107,869,142 (GRCm39) D57G probably damaging Het
Prkcb A G 7: 122,143,854 (GRCm39) probably null Het
Prl6a1 A T 13: 27,502,911 (GRCm39) Q169L probably null Het
Prl6a1 C A 13: 27,502,910 (GRCm39) Q169K possibly damaging Het
Psmd14 G A 2: 61,591,335 (GRCm39) R46H probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ramp2 A G 11: 101,138,408 (GRCm39) T22A probably benign Het
Rbm19 AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 5: 120,278,345 (GRCm39) probably benign Het
Rbm25 A T 12: 83,715,219 (GRCm39) E463D possibly damaging Het
Retnlb A G 16: 48,637,678 (GRCm39) I35V probably benign Het
Setd2 T A 9: 110,431,306 (GRCm39) I2378N probably damaging Het
Slc26a1 A T 5: 108,819,740 (GRCm39) C486* probably null Het
Spef2 T A 15: 9,667,316 (GRCm39) I791F probably damaging Het
Sptb T C 12: 76,650,798 (GRCm39) T1726A possibly damaging Het
Stk38l T A 6: 146,673,129 (GRCm39) M296K probably benign Het
Taf5 T C 19: 47,070,285 (GRCm39) F624L probably damaging Het
Tmem30c G T 16: 57,086,855 (GRCm39) T316K probably damaging Het
Trpm2 A G 10: 77,778,839 (GRCm39) S376P possibly damaging Het
Vmn2r82 A T 10: 79,214,702 (GRCm39) L228F probably damaging Het
Zfp607b G A 7: 27,398,087 (GRCm39) C57Y possibly damaging Het
Zfp983 A G 17: 21,881,269 (GRCm39) H399R probably damaging Het
Zfp984 A T 4: 147,840,002 (GRCm39) M283K probably benign 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
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
R5698:Sestd1 UTSW 2 77,048,512 (GRCm39) missense possibly damaging 0.90
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'- ACTGCTATCAGCCACTGCTGCTAC -3'
(R):5'- GGCACACAGGAAGTGTTTGCTGAG -3'

Sequencing Primer
(F):5'- ACTGCTGCTACCCTTTAACTGTG -3'
(R):5'- CTACACAGAGTCATTAGATAGTTTCC -3'
Posted On 2014-04-13