Incidental Mutation 'IGL03214:Slfn14'
ID413418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slfn14
Ensembl Gene ENSMUSG00000082101
Gene Nameschlafen 14
SynonymsSlfn14-ps, LOC237890
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #IGL03214
Quality Score
Status
Chromosome11
Chromosomal Location83275110-83286726 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83279000 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 606 (H606R)
Ref Sequence ENSEMBL: ENSMUSP00000139132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163961]
Predicted Effect probably benign
Transcript: ENSMUST00000163961
AA Change: H606R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: H606R

DomainStartEndE-ValueType
Pfam:AAA_4 195 329 1e-20 PFAM
low complexity region 539 551 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene plays an important role in platelet formation and function. Defects in this gene are a cause of thrombocytopenia with excessive bleeding. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T C 11: 7,167,054 probably benign Het
Asb5 T C 8: 54,585,063 V207A probably benign Het
Atxn3 G T 12: 101,945,922 probably benign Het
Brwd1 T C 16: 96,037,900 D857G probably benign Het
Cacna1i A G 15: 80,355,716 N322S probably benign Het
Dcun1d1 A T 3: 35,919,071 W92R probably damaging Het
Dnah7a A C 1: 53,522,209 probably null Het
Enpep T C 3: 129,293,247 D581G probably benign Het
Fam135a G A 1: 24,053,276 L201F probably damaging Het
Gm14496 T G 2: 182,000,536 L667V probably damaging Het
Grk4 T A 5: 34,752,209 M539K probably benign Het
Itpr2 A G 6: 146,180,244 V2261A probably benign Het
Krtap5-2 A G 7: 142,175,014 S310P unknown Het
Mme A T 3: 63,329,690 Y232F possibly damaging Het
Mtmr4 T C 11: 87,597,693 Y58H probably damaging Het
Myh13 T C 11: 67,353,585 S983P possibly damaging Het
Nbas A G 12: 13,331,110 probably benign Het
Neb T A 2: 52,197,844 T5448S possibly damaging Het
Neb C T 2: 52,159,548 G6428R probably damaging Het
Olfr1156 T A 2: 87,950,071 Q54L probably benign Het
Olfr31 A T 14: 14,328,284 M58L probably damaging Het
Olfr472 T C 7: 107,902,966 M83T probably benign Het
Olfr598 G T 7: 103,328,666 S60I possibly damaging Het
Olfr699 T A 7: 106,790,345 I219L probably benign Het
Otx2 A G 14: 48,661,324 I75T probably damaging Het
Phex A T X: 157,177,504 N681K probably damaging Het
Plekha8 C A 6: 54,635,770 A454E probably damaging Het
Rbfa C A 18: 80,197,291 K152N probably benign Het
Satb2 C A 1: 56,845,580 S513I probably damaging Het
Slc4a2 G T 5: 24,434,881 R520L probably benign Het
Smc1b G A 15: 85,097,946 Q716* probably null Het
Syncrip C T 9: 88,464,643 probably benign Het
Vmn2r30 T A 7: 7,334,260 I126F probably benign Het
Vps13c C T 9: 67,897,195 A762V probably null Het
Wdr64 C A 1: 175,743,635 probably benign Het
Wisp3 T C 10: 39,153,167 N255S probably benign Het
Other mutations in Slfn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03402:Slfn14 APN 11 83276313 missense probably benign 0.00
R2520:Slfn14 UTSW 11 83276187 missense probably damaging 0.99
R2570:Slfn14 UTSW 11 83283607 missense probably benign 0.02
R3082:Slfn14 UTSW 11 83276693 nonsense probably null
R4611:Slfn14 UTSW 11 83283314 nonsense probably null
R4647:Slfn14 UTSW 11 83276658 missense probably benign 0.01
R4722:Slfn14 UTSW 11 83283418 missense probably benign 0.27
R4833:Slfn14 UTSW 11 83279156 missense probably damaging 1.00
R4876:Slfn14 UTSW 11 83276272 missense possibly damaging 0.87
R5209:Slfn14 UTSW 11 83279633 missense possibly damaging 0.95
R5776:Slfn14 UTSW 11 83283599 missense probably damaging 1.00
R5933:Slfn14 UTSW 11 83279462 missense probably damaging 0.97
R6174:Slfn14 UTSW 11 83276603 missense probably damaging 1.00
R6826:Slfn14 UTSW 11 83281818 critical splice donor site probably null
R7042:Slfn14 UTSW 11 83276604 missense probably damaging 1.00
R7070:Slfn14 UTSW 11 83276705 missense probably benign 0.27
R7191:Slfn14 UTSW 11 83276749 missense probably benign
R7207:Slfn14 UTSW 11 83279388 nonsense probably null
R7297:Slfn14 UTSW 11 83278995 nonsense probably null
R7829:Slfn14 UTSW 11 83281817 critical splice donor site probably null
R8094:Slfn14 UTSW 11 83283293 nonsense probably null
R8263:Slfn14 UTSW 11 83283473 missense possibly damaging 0.90
Posted On2016-08-02