Incidental Mutation 'IGL02212:Samd14'
ID285534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd14
Ensembl Gene ENSMUSG00000047181
Gene Namesterile alpha motif domain containing 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.174) question?
Stock #IGL02212
Quality Score
Status
Chromosome11
Chromosomal Location95009879-95026087 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95023350 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 305 (Y305C)
Ref Sequence ENSEMBL: ENSMUSP00000062231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038431] [ENSMUST00000055947] [ENSMUST00000124735]
Predicted Effect probably benign
Transcript: ENSMUST00000038431
SMART Domains Protein: ENSMUSP00000041447
Gene: ENSMUSG00000038967

DomainStartEndE-ValueType
Pfam:BCDHK_Adom3 30 192 3.8e-52 PFAM
HATPase_c 240 364 9.32e-14 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000055947
AA Change: Y305C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062231
Gene: ENSMUSG00000047181
AA Change: Y305C

DomainStartEndE-ValueType
low complexity region 42 57 N/A INTRINSIC
low complexity region 138 153 N/A INTRINSIC
low complexity region 244 260 N/A INTRINSIC
low complexity region 276 289 N/A INTRINSIC
SAM 323 389 7.96e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124735
SMART Domains Protein: ENSMUSP00000123361
Gene: ENSMUSG00000047181

DomainStartEndE-ValueType
SCOP:d1jj2w_ 21 62 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126730
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128512
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,248,889 D1079V probably damaging Het
Adam18 T C 8: 24,637,179 H467R probably benign Het
Ambra1 T G 2: 91,917,361 D1056E probably damaging Het
Aoah A C 13: 21,002,901 N456T probably benign Het
Batf2 T A 19: 6,171,961 F267Y probably damaging Het
Bbs7 C T 3: 36,594,409 V397I probably benign Het
Bbs9 T A 9: 22,812,512 D824E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Brip1 A T 11: 86,139,015 V601E possibly damaging Het
Bub1 A G 2: 127,805,351 F773L probably damaging Het
Cadps A T 14: 12,522,345 D606E possibly damaging Het
Cenps T G 4: 149,128,846 D54A probably damaging Het
Cep170 T A 1: 176,735,936 N1504I probably damaging Het
Cttnbp2 A G 6: 18,382,749 V1340A possibly damaging Het
D630003M21Rik A T 2: 158,210,171 S667T probably benign Het
Dgkb A G 12: 38,139,414 Y272C probably damaging Het
Dlx3 A G 11: 95,120,641 D107G probably benign Het
Drd3 A T 16: 43,762,312 N56I probably benign Het
Elavl4 T A 4: 110,206,412 I331F probably damaging Het
Fam167a T G 14: 63,462,629 S213A probably damaging Het
Fasn A T 11: 120,807,903 I2489N probably damaging Het
Fbxo43 T C 15: 36,151,811 K587E probably damaging Het
Fscn2 A G 11: 120,362,055 D116G probably damaging Het
Galm T C 17: 80,150,117 V194A probably benign Het
Gm14851 C T 8: 21,095,260 probably benign Het
Gpr180 T A 14: 118,160,176 F361I probably damaging Het
Gpx2 A T 12: 76,792,908 C105* probably null Het
Gsdmc2 A T 15: 63,828,062 probably benign Het
Hes2 T G 4: 152,160,525 S150R probably damaging Het
Ighv1-56 C T 12: 115,242,797 probably benign Het
Inhbb A T 1: 119,417,983 V192D probably benign Het
Itgal A T 7: 127,300,980 M137L probably benign Het
Jak2 A G 19: 29,287,982 N470D probably benign Het
Jph1 T C 1: 17,091,757 E227G probably damaging Het
Kcnj6 A T 16: 94,832,487 I237N probably damaging Het
Kctd8 G T 5: 69,340,688 P205Q probably benign Het
Klhdc1 A T 12: 69,250,766 N37I probably damaging Het
Lrp2 T A 2: 69,451,264 H3921L probably benign Het
Lrp8os2 T C 4: 107,807,048 probably benign Het
Man2a2 A C 7: 80,362,308 D700E probably benign Het
Mast1 A T 8: 84,921,397 L485Q probably damaging Het
Mmp3 A G 9: 7,450,165 D299G probably damaging Het
Mptx2 T A 1: 173,274,681 D147V possibly damaging Het
Mrpl9 T A 3: 94,443,817 probably null Het
Mup21 T G 4: 62,148,592 E137A probably damaging Het
Mutyh T A 4: 116,815,606 V52D probably damaging Het
Nalcn T A 14: 123,515,330 S340C probably damaging Het
Neb A G 2: 52,308,311 Y474H probably damaging Het
Nol8 A G 13: 49,662,150 E560G possibly damaging Het
Ntn4 A G 10: 93,644,849 D145G possibly damaging Het
Nup93 G A 8: 94,311,662 probably null Het
Olfr133 C A 17: 38,148,855 T89K probably benign Het
Olfr1384 A T 11: 49,513,910 I91F probably damaging Het
Olfr346 A G 2: 36,688,182 Y60C probably damaging Het
Olfr691 C T 7: 105,337,143 C191Y probably damaging Het
Pcdhb8 T A 18: 37,356,412 V40E possibly damaging Het
Peg3 C T 7: 6,711,416 R269H probably benign Het
Piwil1 T A 5: 128,750,270 F648I possibly damaging Het
Psd4 A T 2: 24,405,314 K827* probably null Het
Retsat T A 6: 72,601,710 L135* probably null Het
Rtp3 A G 9: 110,987,321 probably benign Het
Satb1 T A 17: 51,775,291 Q445L possibly damaging Het
Shbg A G 11: 69,617,209 L110P probably damaging Het
Slc17a6 T A 7: 51,667,470 I413N possibly damaging Het
Slu7 A T 11: 43,440,642 Q201L probably benign Het
Spg11 T C 2: 122,108,157 T439A probably benign Het
Sstr5 A T 17: 25,491,673 L194Q possibly damaging Het
Tjp2 A T 19: 24,138,786 L13Q probably damaging Het
Tnk2 G A 16: 32,680,142 V758I probably damaging Het
Ttll8 C A 15: 88,917,247 V413L probably benign Het
Wiz T C 17: 32,368,135 D67G probably damaging Het
Other mutations in Samd14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Samd14 APN 11 95021468 unclassified probably benign
IGL01466:Samd14 APN 11 95023255 unclassified probably benign
R1835:Samd14 UTSW 11 95023600 missense probably damaging 1.00
R2004:Samd14 UTSW 11 95023284 missense probably damaging 0.99
R2172:Samd14 UTSW 11 95014391 missense probably benign
R4584:Samd14 UTSW 11 95021535 splice site probably null
R5133:Samd14 UTSW 11 95021583 missense probably damaging 0.98
R6852:Samd14 UTSW 11 95021454 missense probably damaging 1.00
Posted On2015-04-16