Incidental Mutation 'IGL02897:Smim14'
ID363458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim14
Ensembl Gene ENSMUSG00000037822
Gene Namesmall integral membrane protein 14
Synonyms1700127H04Rik, 1110003E01Rik, 5430439C17Rik, MAd4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02897
Quality Score
Status
Chromosome5
Chromosomal Location65446844-65537184 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to T at 65450396 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040532] [ENSMUST00000121661] [ENSMUST00000139122] [ENSMUST00000196121]
Predicted Effect probably benign
Transcript: ENSMUST00000040532
SMART Domains Protein: ENSMUSP00000040511
Gene: ENSMUSG00000037822

DomainStartEndE-ValueType
Pfam:DUF2615 1 91 1.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121661
SMART Domains Protein: ENSMUSP00000113456
Gene: ENSMUSG00000037822

DomainStartEndE-ValueType
Pfam:DUF2615 1 99 2.8e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135258
Predicted Effect probably benign
Transcript: ENSMUST00000139122
SMART Domains Protein: ENSMUSP00000122363
Gene: ENSMUSG00000037822

DomainStartEndE-ValueType
Pfam:DUF2615 2 98 6.5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196121
SMART Domains Protein: ENSMUSP00000143665
Gene: ENSMUSG00000105835

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 50 6.4e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200111
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,517,308 E108D probably benign Het
Abca7 T C 10: 80,001,592 F437L probably damaging Het
Abi2 T C 1: 60,448,194 V134A probably damaging Het
Ablim2 T C 5: 35,833,126 I75T probably damaging Het
Aldh1a3 A G 7: 66,427,327 V29A probably benign Het
Bptf T C 11: 107,047,121 K2715E probably damaging Het
Cd163 A T 6: 124,325,527 S1017C probably damaging Het
Cdc14b T C 13: 64,247,253 I76V probably benign Het
Cers6 T A 2: 68,934,533 C63* probably null Het
Chd9 T C 8: 90,933,868 probably benign Het
Col19a1 T C 1: 24,534,098 N198D unknown Het
Cse1l T C 2: 166,919,708 C61R possibly damaging Het
Cubn T C 2: 13,318,312 T2815A possibly damaging Het
Cyp19a1 G T 9: 54,166,911 T453K possibly damaging Het
Dlg1 G T 16: 31,771,856 probably null Het
Dpp7 T C 2: 25,353,672 Y339C probably damaging Het
Dtl T C 1: 191,541,544 probably benign Het
Gm5591 T C 7: 38,520,042 E469G probably damaging Het
Ing3 T A 6: 21,969,326 V202E probably benign Het
Inpp5j A G 11: 3,500,619 L578P probably damaging Het
Irak4 A G 15: 94,553,991 N155S probably benign Het
Kif2b A T 11: 91,576,219 S413T probably damaging Het
L3mbtl1 A T 2: 162,965,772 Y490F probably damaging Het
Med17 T G 9: 15,267,534 D447A probably damaging Het
Med26 T C 8: 72,496,521 T245A probably benign Het
Nlrc3 A T 16: 3,964,074 S490R possibly damaging Het
Nme5 A G 18: 34,569,903 probably benign Het
Olfr611 T C 7: 103,518,130 R85G probably benign Het
Rnf10 G T 5: 115,248,641 Q530K probably benign Het
Robo3 A T 9: 37,427,502 Y281* probably null Het
Sclt1 T C 3: 41,675,387 I330V probably benign Het
Trank1 T G 9: 111,367,517 H1536Q probably damaging Het
Tspan18 A G 2: 93,220,173 L35P possibly damaging Het
Ubr4 G A 4: 139,472,508 V4568M probably damaging Het
Vmn1r63 A G 7: 5,802,745 V296A possibly damaging Het
Other mutations in Smim14
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0724:Smim14 UTSW 5 65453339 intron probably benign
R4829:Smim14 UTSW 5 65460603 intron probably benign
R6364:Smim14 UTSW 5 65453296 missense probably benign 0.00
Posted On2015-12-18