Incidental Mutation 'R4659:Sestd1'
ID352651
Institutional Source Beutler Lab
Gene Symbol Sestd1
Ensembl Gene ENSMUSG00000042272
Gene NameSEC14 and spectrin domains 1
Synonyms1500031J16Rik
MMRRC Submission 041919-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4659 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location77180340-77280592 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 77212499 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 237 (M237K)
Ref Sequence ENSEMBL: ENSMUSP00000099721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102659] [ENSMUST00000102660]
Predicted Effect probably null
Transcript: ENSMUST00000102659
AA Change: M237K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099720
Gene: ENSMUSG00000042272
AA Change: M237K

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 null
Transcript: ENSMUST00000102660
AA Change: M237K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099721
Gene: ENSMUSG00000042272
AA Change: M237K

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
Meta Mutation Damage Score 0.6037 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 96% (74/77)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik G T 15: 8,216,276 probably benign Het
Abcc9 C A 6: 142,672,595 probably null Het
Ankrd22 C T 19: 34,125,568 V118I probably damaging Het
Aoc1 A T 6: 48,906,076 E295D probably benign Het
Arap2 T C 5: 62,654,126 N1114S possibly damaging Het
AU021092 C G 16: 5,212,147 A335P probably damaging Het
Carhsp1 T C 16: 8,664,265 T51A probably benign Het
Ccdc144b T C 3: 36,025,954 D218G possibly damaging Het
Cdc42bpb T C 12: 111,339,891 D152G probably damaging Het
Cep70 T A 9: 99,296,341 D497E possibly damaging Het
Chrm5 T C 2: 112,479,757 N338S probably benign Het
Cldn8 G A 16: 88,562,408 H210Y probably benign Het
Clhc1 T A 11: 29,578,229 *586K probably null Het
Dopey1 T A 9: 86,502,032 probably benign Het
Dync1h1 T C 12: 110,628,767 F1371S possibly damaging Het
Eif6 A G 2: 155,826,181 I46T probably damaging Het
Esco2 G A 14: 65,826,586 T383M possibly damaging Het
Exoc8 T C 8: 124,897,532 D32G probably damaging Het
Fam149b G T 14: 20,367,873 S216I probably benign Het
Fam219a T C 4: 41,521,645 D87G probably null Het
Fbxw26 A T 9: 109,744,871 V71D probably damaging Het
Gabra4 T A 5: 71,641,144 K164M probably damaging Het
Gm8603 G A 17: 13,517,028 noncoding transcript Het
Gnmt A G 17: 46,725,966 F239S probably damaging Het
Gpsm1 G A 2: 26,319,831 probably benign Het
Jam2 G A 16: 84,812,952 V151M probably damaging Het
Kcnj1 A T 9: 32,394,148 D2V probably benign Het
Limch1 C T 5: 67,027,557 R797C probably damaging Het
Lrrc9 T A 12: 72,470,264 F597I probably damaging Het
Lrriq3 T A 3: 155,129,453 I275N possibly damaging Het
Mcoln1 T A 8: 3,510,840 S387R probably damaging Het
Mgst3 T A 1: 167,377,279 Q58L probably damaging Het
Mical1 G A 10: 41,486,936 probably benign Het
Mmp3 C A 9: 7,453,673 D431E probably benign Het
Mx1 T C 16: 97,455,239 probably null Het
Myo7a A G 7: 98,085,466 L607P probably damaging Het
Myt1l A G 12: 29,849,457 N153D probably damaging Het
Nfu1 A T 6: 87,019,426 T120S probably damaging Het
Nhlrc2 T C 19: 56,576,267 V341A possibly damaging Het
Notch1 T C 2: 26,470,889 E1148G probably damaging Het
Nqo1 C T 8: 107,391,044 probably null Het
Nwd1 T A 8: 72,695,321 D998E probably benign Het
Olfr1049 G A 2: 86,255,013 Q227* probably null Het
Oxct2a T C 4: 123,322,680 I303V probably benign Het
Parp10 A T 15: 76,242,985 D58E probably damaging Het
Pcdha6 T A 18: 36,969,239 V495E probably damaging Het
Pitrm1 T A 13: 6,553,182 S88R probably benign Het
Pxdn T C 12: 29,994,553 V510A probably benign Het
Ranbp17 T A 11: 33,266,288 D820V probably damaging Het
Sec24c G T 14: 20,683,144 G180C probably damaging Het
Serpina3n T C 12: 104,413,493 S382P probably benign Het
Sf3a2 T C 10: 80,803,584 I136T probably damaging Het
Sh3tc2 A G 18: 61,974,509 Y197C probably benign Het
Speer4b T C 5: 27,497,895 K204E probably benign Het
Speer4f1 A C 5: 17,476,223 E33A possibly damaging Het
Sspo T A 6: 48,484,213 D3529E probably damaging Het
Stard13 T C 5: 151,062,788 D419G probably benign Het
Tg A G 15: 66,673,920 S164G possibly damaging Het
Thap12 A G 7: 98,710,091 probably benign Het
Thsd1 C A 8: 22,259,298 Y667* probably null Het
Tnks A C 8: 34,849,311 Y885D possibly damaging Het
Ttll3 A G 6: 113,414,141 I896V probably benign Het
Txnip T G 3: 96,559,427 F190C probably damaging Het
Urb1 T C 16: 90,776,129 D1005G probably damaging Het
Usp3 T C 9: 66,527,070 probably null Het
Usp54 G T 14: 20,564,992 Q794K probably damaging Het
Xrn2 A G 2: 147,061,474 Q798R probably benign Het
Zfp189 A G 4: 49,530,342 I482V probably benign Het
Zfp28 A G 7: 6,393,507 N314D probably benign Het
Zmym4 A G 4: 126,948,428 probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CTCTACGTGACACACAGAGGAC -3'
(R):5'- TTCCGTATGAGAAGTCAGAAGG -3'

Sequencing Primer
(F):5'- CACGTCACTGACAGGGAAGTC -3'
(R):5'- GGGTAGTTTTTAAAATCAGGACTAGG -3'
Posted On2015-10-08