Incidental Mutation 'R4833:Slfn14'
ID373005
Institutional Source Beutler Lab
Gene Symbol Slfn14
Ensembl Gene ENSMUSG00000082101
Gene Nameschlafen 14
SynonymsSlfn14-ps, LOC237890
MMRRC Submission 042449-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.094) question?
Stock #R4833 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location83275110-83286726 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 83279156 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 554 (L554P)
Ref Sequence ENSEMBL: ENSMUSP00000139132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163961]
Predicted Effect probably damaging
Transcript: ENSMUST00000163961
AA Change: L554P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: L554P

DomainStartEndE-ValueType
Pfam:AAA_4 195 329 1e-20 PFAM
low complexity region 539 551 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (74/75)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C A 19: 3,716,872 T153K possibly damaging Het
4932438A13Rik A G 3: 36,964,968 I2007V probably damaging Het
Abca5 A C 11: 110,279,316 Y1318D probably benign Het
Adam18 A G 8: 24,674,101 I22T probably benign Het
Adgrv1 T A 13: 81,560,844 H1147L possibly damaging Het
Ankrd2 T C 19: 42,043,857 probably null Het
Bdkrb2 T C 12: 105,591,658 W53R probably benign Het
Blm T A 7: 80,466,826 I1111L probably benign Het
Bmp3 T G 5: 98,855,207 L32R probably damaging Het
Cdh23 T G 10: 60,385,038 E1312A probably damaging Het
Ceacam5 C T 7: 17,752,258 T560M probably benign Het
Cmtm8 C A 9: 114,796,165 R66I probably benign Het
Cnbd1 A G 4: 18,862,120 Y357H probably damaging Het
Col4a4 A T 1: 82,529,602 V252E unknown Het
Col6a4 A T 9: 106,071,979 M819K probably benign Het
Cwf19l2 T C 9: 3,430,783 S372P probably benign Het
Daam2 A T 17: 49,490,145 I204N possibly damaging Het
Dock6 T C 9: 21,844,280 D216G probably damaging Het
Epha5 C T 5: 84,105,891 D548N possibly damaging Het
Erich2 T C 2: 70,534,292 Y311H possibly damaging Het
Gm3985 A G 8: 32,890,477 noncoding transcript Het
Gnb1 A G 4: 155,543,067 T102A possibly damaging Het
Hcfc2 C T 10: 82,709,146 A204V probably null Het
Hnrnpu T C 1: 178,333,894 probably benign Het
Htt A G 5: 34,852,225 T1517A probably damaging Het
Klhl6 T A 16: 19,957,139 D223V probably damaging Het
Kpna6 A G 4: 129,657,779 S71P possibly damaging Het
Lama3 A G 18: 12,441,131 D590G probably benign Het
Lipt1 T G 1: 37,875,529 L222R probably damaging Het
Lrrc41 A G 4: 116,093,177 probably benign Het
Lrrc59 T C 11: 94,634,672 V98A probably benign Het
Mast4 A G 13: 102,774,184 probably null Het
Mdc1 C T 17: 35,850,394 S733F probably benign Het
Mknk1 C T 4: 115,878,186 probably benign Het
Mtmr7 A G 8: 40,590,462 F141S probably damaging Het
Myo15b A G 11: 115,887,602 D1G possibly damaging Het
Odf3 T C 7: 140,848,278 M1T probably null Het
Olfr1356 T G 10: 78,847,575 L113F probably damaging Het
Phkb T A 8: 85,901,911 V183E probably damaging Het
Pola2 T C 19: 5,953,864 Y161C probably damaging Het
Psen1 G A 12: 83,731,778 V412I probably benign Het
Psmc4 C A 7: 28,047,512 G77V probably damaging Het
Psmd3 A G 11: 98,687,760 Y207C probably damaging Het
Pxk T A 14: 8,130,653 M84K probably damaging Het
Rab44 A C 17: 29,136,337 Q19P probably damaging Het
Rbks A G 5: 31,624,515 Y314H probably benign Het
Rftn2 T C 1: 55,214,240 D68G possibly damaging Het
Rims2 T A 15: 39,535,914 S838R probably damaging Het
Sdc4 A T 2: 164,431,218 D57E probably damaging Het
Spink2 G T 5: 77,205,392 D83E possibly damaging Het
Srsf4 C T 4: 131,900,102 probably benign Het
Taar8b A T 10: 24,092,132 S55T possibly damaging Het
Tbca A G 13: 94,832,410 E35G probably benign Het
Tmc5 C A 7: 118,628,829 H307Q probably benign Het
Tmem169 A G 1: 72,298,152 D82G probably benign Het
Tmem72 T C 6: 116,698,358 T58A probably benign Het
Ttc7 C T 17: 87,334,321 P449S probably damaging Het
Ttf2 T C 3: 100,961,406 E449G probably benign Het
Ubr4 C A 4: 139,402,546 T659K probably damaging Het
Wdr1 A G 5: 38,547,029 Y98H probably damaging Het
Wfikkn2 A G 11: 94,239,052 Y88H probably benign Het
Zfp384 A T 6: 125,030,848 H247L probably damaging Het
Zfp526 C T 7: 25,225,870 A518V probably damaging Het
Zfp788 T A 7: 41,647,568 H47Q probably benign Het
Other mutations in Slfn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03214:Slfn14 APN 11 83279000 missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- GGAGTCATTTTCACAAACAAAGAGG -3'
(R):5'- ACAAACTCTTGGAGGCTACCC -3'

Sequencing Primer
(F):5'- CATTTTCACAAACAAAGAGGATCTC -3'
(R):5'- CCCAGGGAAAATATGTGTCATTCC -3'
Posted On2016-03-01