Incidental Mutation 'IGL00725:Sestd1'
ID13986
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sestd1
Ensembl Gene ENSMUSG00000042272
Gene NameSEC14 and spectrin domains 1
Synonyms1500031J16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00725
Quality Score
Status
Chromosome2
Chromosomal Location77180340-77280592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77188522 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 647 (I647V)
Ref Sequence ENSEMBL: ENSMUSP00000099721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]
Predicted Effect probably benign
Transcript: ENSMUST00000102659
AA Change: I647V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: I647V

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 benign
Transcript: ENSMUST00000102660
AA Change: I647V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: I647V

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
Coding Region Coverage
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp11b G T 3: 35,827,073 R593L probably damaging Het
Axl A T 7: 25,764,483 D566E probably damaging Het
Ccp110 A G 7: 118,730,723 D912G probably damaging Het
Clca3b C T 3: 144,839,162 D355N probably benign Het
Clock A C 5: 76,254,413 Y133* probably null Het
Cntn4 T A 6: 106,662,655 V582E probably damaging Het
Ddx1 A G 12: 13,227,459 probably benign Het
Ddx1 A G 12: 13,245,690 L43P probably damaging Het
Dnase2b G A 3: 146,596,378 T8I probably benign Het
Ermard T C 17: 14,988,066 probably benign Het
Gtf3c2 A G 5: 31,174,408 V22A probably damaging Het
Ifi208 T C 1: 173,682,861 I194T possibly damaging Het
Krt9 T A 11: 100,190,006 E340V probably damaging Het
Nupl1 G T 14: 60,243,440 T152K possibly damaging Het
Otog A G 7: 46,274,092 S1050G probably damaging Het
Prkdc A G 16: 15,816,639 N3580S probably benign Het
Rsbn1 T C 3: 103,928,821 S392P probably damaging Het
Sugct A T 13: 17,662,772 S91R probably damaging Het
Syne1 A G 10: 5,344,922 Y1227S possibly damaging Het
Synpo C T 18: 60,604,077 V27I probably damaging Het
Tcp11l2 T C 10: 84,594,710 I233T possibly damaging Het
Vwde A G 6: 13,187,412 V692A probably benign Het
Other mutations in Sestd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Sestd1 APN 2 77212452 missense possibly damaging 0.53
IGL01317:Sestd1 APN 2 77192545 missense possibly damaging 0.73
IGL01649:Sestd1 APN 2 77199045 missense probably damaging 1.00
IGL01953:Sestd1 APN 2 77212469 missense possibly damaging 0.91
IGL02439:Sestd1 APN 2 77196830 missense possibly damaging 0.49
R0408:Sestd1 UTSW 2 77191793 missense probably damaging 1.00
R0562:Sestd1 UTSW 2 77230722 missense probably benign 0.10
R0788:Sestd1 UTSW 2 77191716 missense probably damaging 1.00
R1518:Sestd1 UTSW 2 77241632 missense probably damaging 1.00
R2119:Sestd1 UTSW 2 77212523 missense probably benign 0.00
R4659:Sestd1 UTSW 2 77212499 missense probably null 0.75
R5698:Sestd1 UTSW 2 77218168 missense possibly damaging 0.90
R5927:Sestd1 UTSW 2 77187159 missense probably benign 0.00
R7046:Sestd1 UTSW 2 77192566 missense probably benign 0.32
X0023:Sestd1 UTSW 2 77199032 missense probably benign 0.05
X0057:Sestd1 UTSW 2 77218193 missense possibly damaging 0.95
Posted On2012-12-06