Incidental Mutation 'R4722:Slfn14'
ID 354551
Institutional Source Beutler Lab
Gene Symbol Slfn14
Ensembl Gene ENSMUSG00000082101
Gene Name schlafen 14
Synonyms LOC237890, Slfn14-ps
MMRRC Submission 041987-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R4722 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 83165936-83177552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 83174244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 249 (E249G)
Ref Sequence ENSEMBL: ENSMUSP00000139132 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163961]
AlphaFold V9GXG1
Predicted Effect probably benign
Transcript: ENSMUST00000163961
AA Change: E249G

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000139132
Gene: ENSMUSG00000082101
AA Change: E249G

DomainStartEndE-ValueType
Pfam:AAA_4 195 329 1e-20 PFAM
low complexity region 539 551 N/A INTRINSIC
Meta Mutation Damage Score 0.2386 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (68/69)
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
2700097O09Rik G T 12: 55,107,922 (GRCm39) D92E probably benign Het
Abca17 A G 17: 24,484,403 (GRCm39) F1620L probably damaging Het
Abcf1 T C 17: 36,268,933 (GRCm39) probably benign Het
Adtrp T C 13: 41,920,823 (GRCm39) H248R probably benign Het
Aldh1b1 T G 4: 45,803,472 (GRCm39) F337V probably damaging Het
Amz2 C T 11: 109,325,457 (GRCm39) L272F probably damaging Het
Asic2 A T 11: 81,859,009 (GRCm39) M1K probably null Het
Avpr1a T A 10: 122,284,906 (GRCm39) V66E possibly damaging Het
AW554918 C A 18: 25,307,772 (GRCm39) Y28* probably null Het
Cdc25b C T 2: 131,035,271 (GRCm39) P343L probably damaging Het
Chd7 T A 4: 8,822,445 (GRCm39) I846K probably damaging Het
Dnajc13 A T 9: 104,091,017 (GRCm39) M688K probably benign Het
Dock2 T A 11: 34,586,298 (GRCm39) I505F probably damaging Het
Dpy19l4 A G 4: 11,290,521 (GRCm39) V290A possibly damaging Het
Dtl G T 1: 191,288,953 (GRCm39) Q254K possibly damaging Het
Enpp2 T G 15: 54,750,985 (GRCm39) K265T probably damaging Het
Epm2aip1 TGTCGCCG TG 9: 111,101,152 (GRCm39) probably benign Het
Fam133b T A 5: 3,593,949 (GRCm39) probably null Het
Fuom A G 7: 139,679,480 (GRCm39) probably benign Het
Fut9 T C 4: 25,799,734 (GRCm39) probably benign Het
Gas8 T A 8: 124,252,374 (GRCm39) I171N possibly damaging Het
Gipc3 T G 10: 81,177,129 (GRCm39) D147A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5591 T C 7: 38,218,572 (GRCm39) K767R probably damaging Het
Kctd8 G A 5: 69,498,544 (GRCm39) P34L possibly damaging Het
Kmt2b G A 7: 30,282,627 (GRCm39) R403C probably damaging Het
Krt84 A T 15: 101,436,846 (GRCm39) I396N probably damaging Het
Lrrk2 C A 15: 91,573,104 (GRCm39) F217L probably damaging Het
Med27 T A 2: 29,414,447 (GRCm39) D290E probably damaging Het
Mical3 T C 6: 121,015,486 (GRCm39) Q184R probably benign Het
Mlxip A T 5: 123,585,265 (GRCm39) K591M probably benign Het
Mutyh T A 4: 116,674,069 (GRCm39) L233H probably damaging Het
Naip6 G T 13: 100,443,580 (GRCm39) H253N possibly damaging Het
Nynrin A G 14: 56,091,852 (GRCm39) E56G probably damaging Het
Oip5 C T 2: 119,443,492 (GRCm39) probably null Het
Or10a4 T A 7: 106,696,777 (GRCm39) I35N possibly damaging Het
Or10ak12 T C 4: 118,666,146 (GRCm39) N305S probably damaging Het
Or4c104 T G 2: 88,586,356 (GRCm39) H221P possibly damaging Het
Or4c15 T C 2: 88,760,324 (GRCm39) I112V possibly damaging Het
Or5p61 T A 7: 107,758,445 (GRCm39) I212F probably benign Het
Oxr1 T C 15: 41,677,045 (GRCm39) S132P probably damaging Het
Pcdhac1 C T 18: 37,224,933 (GRCm39) T582I probably damaging Het
Prl7a2 A G 13: 27,844,858 (GRCm39) I176T probably damaging Het
Rabgap1l T C 1: 160,169,734 (GRCm39) T30A possibly damaging Het
Rapgef2 A G 3: 78,976,480 (GRCm39) M1294T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rnmt T A 18: 68,438,952 (GRCm39) N20K probably damaging Het
Scn7a T A 2: 66,531,228 (GRCm39) T550S possibly damaging Het
Shank1 T A 7: 43,962,638 (GRCm39) Y117* probably null Het
Skint5 T A 4: 113,751,052 (GRCm39) K331I unknown Het
Slc5a1 A G 5: 33,304,055 (GRCm39) Y290C possibly damaging Het
Smarcal1 T C 1: 72,650,496 (GRCm39) S544P probably damaging Het
St6galnac3 A T 3: 153,117,166 (GRCm39) Y186N probably damaging Het
Tbc1d1 T C 5: 64,420,900 (GRCm39) F346S probably damaging Het
Tdrd5 A T 1: 156,129,945 (GRCm39) I75K probably benign Het
Tnrc6a T C 7: 122,791,313 (GRCm39) M1737T possibly damaging Het
Toe1 A T 4: 116,662,397 (GRCm39) Y283N probably damaging Het
Tubal3 G T 13: 3,978,185 (GRCm39) G34C probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn1r212 T C 13: 23,068,078 (GRCm39) Y85C probably damaging Het
Yju2b A T 8: 84,985,439 (GRCm39) C277S probably benign Het
Zdhhc4 A G 5: 143,307,536 (GRCm39) S162P probably damaging Het
Zfp712 A G 13: 67,190,177 (GRCm39) S117P probably benign Het
Zic4 G T 9: 91,261,257 (GRCm39) G164C probably damaging Het
Other mutations in Slfn14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03214:Slfn14 APN 11 83,169,826 (GRCm39) missense probably benign 0.01
IGL03402:Slfn14 APN 11 83,167,139 (GRCm39) missense probably benign 0.00
R2520:Slfn14 UTSW 11 83,167,013 (GRCm39) missense probably damaging 0.99
R2570:Slfn14 UTSW 11 83,174,433 (GRCm39) missense probably benign 0.02
R3082:Slfn14 UTSW 11 83,167,519 (GRCm39) nonsense probably null
R4611:Slfn14 UTSW 11 83,174,140 (GRCm39) nonsense probably null
R4647:Slfn14 UTSW 11 83,167,484 (GRCm39) missense probably benign 0.01
R4833:Slfn14 UTSW 11 83,169,982 (GRCm39) missense probably damaging 1.00
R4876:Slfn14 UTSW 11 83,167,098 (GRCm39) missense possibly damaging 0.87
R5209:Slfn14 UTSW 11 83,170,459 (GRCm39) missense possibly damaging 0.95
R5776:Slfn14 UTSW 11 83,174,425 (GRCm39) missense probably damaging 1.00
R5933:Slfn14 UTSW 11 83,170,288 (GRCm39) missense probably damaging 0.97
R6174:Slfn14 UTSW 11 83,167,429 (GRCm39) missense probably damaging 1.00
R6826:Slfn14 UTSW 11 83,172,644 (GRCm39) critical splice donor site probably null
R7042:Slfn14 UTSW 11 83,167,430 (GRCm39) missense probably damaging 1.00
R7070:Slfn14 UTSW 11 83,167,531 (GRCm39) missense probably benign 0.27
R7191:Slfn14 UTSW 11 83,167,575 (GRCm39) missense probably benign
R7207:Slfn14 UTSW 11 83,170,214 (GRCm39) nonsense probably null
R7297:Slfn14 UTSW 11 83,169,821 (GRCm39) nonsense probably null
R7829:Slfn14 UTSW 11 83,172,643 (GRCm39) critical splice donor site probably null
R8094:Slfn14 UTSW 11 83,174,119 (GRCm39) nonsense probably null
R8263:Slfn14 UTSW 11 83,174,299 (GRCm39) missense possibly damaging 0.90
R8735:Slfn14 UTSW 11 83,174,715 (GRCm39) missense probably damaging 1.00
R8981:Slfn14 UTSW 11 83,174,455 (GRCm39) missense possibly damaging 0.88
R9459:Slfn14 UTSW 11 83,170,198 (GRCm39) missense possibly damaging 0.91
R9593:Slfn14 UTSW 11 83,174,733 (GRCm39) missense probably benign 0.02
R9600:Slfn14 UTSW 11 83,170,048 (GRCm39) missense probably benign 0.41
Predicted Primers PCR Primer
(F):5'- CAGCCTTGTGACAATATTGTTCTCC -3'
(R):5'- GCTTCACAGAGTCAACTCACG -3'

Sequencing Primer
(F):5'- AGGAATCTGGGTCCTCTGCAAAC -3'
(R):5'- CACGTTGAGTTTAAAAGGTTTACCAC -3'
Posted On 2015-10-21