Incidental Mutation 'IGL01649:Sestd1'
ID102780
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 #IGL01649
Quality Score
Status
Chromosome2
Chromosomal Location77180340-77280592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77199045 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 330 (Y330H)
Ref Sequence ENSEMBL: ENSMUSP00000099721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]
Predicted Effect probably damaging
Transcript: ENSMUST00000102659
AA Change: Y330H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: Y330H

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: Y330H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: Y330H

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145366
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,214,576 probably benign Het
4931429L15Rik A G 9: 46,305,818 S220P probably benign Het
Adam18 T C 8: 24,614,896 N634S possibly damaging Het
Arhgef18 T A 8: 3,441,211 probably benign Het
Birc6 A G 17: 74,604,546 S1518G probably benign Het
Cltc A G 11: 86,726,400 V341A probably benign Het
Dlg5 A G 14: 24,138,691 V1721A probably damaging Het
Dnah10 A T 5: 124,732,489 I274F probably damaging Het
Dock1 T A 7: 134,777,410 L622Q probably damaging Het
Dysf A G 6: 84,199,839 D1960G probably damaging Het
Fat3 T C 9: 16,376,719 T503A possibly damaging Het
Glb1 A G 9: 114,423,948 Y73C probably damaging Het
Gm9396 G T 3: 130,068,619 noncoding transcript Het
Gml2 G T 15: 74,824,221 E155* probably null Het
Ikzf4 G A 10: 128,635,820 R323C probably damaging Het
Kiz A G 2: 146,889,309 T240A probably benign Het
Lzts3 T C 2: 130,635,431 K480E probably damaging Het
Mcm7 T C 5: 138,169,436 H105R probably damaging Het
Mpdz A G 4: 81,303,633 L1464P probably damaging Het
Mrgpra9 A C 7: 47,235,152 L256V probably benign Het
Mrpl40 T C 16: 18,872,579 Q127R probably benign Het
Myom2 G T 8: 15,113,755 R1003L probably benign Het
Nav2 A G 7: 49,575,729 T1806A probably damaging Het
Olfr248 T C 1: 174,391,408 L113P probably damaging Het
Pibf1 A T 14: 99,187,763 Y562F possibly damaging Het
Ppm1n A T 7: 19,278,197 probably benign Het
Psg17 A G 7: 18,816,802 V376A possibly damaging Het
Sept8 T A 11: 53,535,028 F143I possibly damaging Het
Sntg1 C T 1: 8,681,969 probably benign Het
Stpg2 C A 3: 139,419,862 P472Q probably damaging Het
Thbs1 A G 2: 118,114,982 K314R probably benign Het
Vav3 T C 3: 109,562,762 Y508H probably benign Het
Other mutations in Sestd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Sestd1 APN 2 77212452 missense possibly damaging 0.53
IGL00725:Sestd1 APN 2 77188522 missense probably benign
IGL01317:Sestd1 APN 2 77192545 missense possibly damaging 0.73
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
R8361:Sestd1 UTSW 2 77187228 missense probably benign 0.15
X0023:Sestd1 UTSW 2 77199032 missense probably benign 0.05
X0057:Sestd1 UTSW 2 77218193 missense possibly damaging 0.95
Posted On2014-01-21