Incidental Mutation 'R1483:D6Wsu163e'
ID 165693
Institutional Source Beutler Lab
Gene Symbol D6Wsu163e
Ensembl Gene ENSMUSG00000030347
Gene Name DNA segment, Chr 6, Wayne State University 163, expressed
Synonyms
MMRRC Submission 039536-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1483 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 126916938-126952667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126931733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 255 (E255G)
Ref Sequence ENSEMBL: ENSMUSP00000032497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032497]
AlphaFold Q91YN0
Predicted Effect probably benign
Transcript: ENSMUST00000032497
AA Change: E255G

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347
AA Change: E255G

DomainStartEndE-ValueType
Pfam:DUF2362 41 546 4.4e-218 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202964
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam12 T A 7: 133,531,754 (GRCm39) T494S probably benign Het
Akap6 C T 12: 52,842,870 (GRCm39) P73S probably damaging Het
Amotl2 A T 9: 102,608,096 (GRCm39) T763S probably benign Het
Brd10 G A 19: 29,696,745 (GRCm39) P916L possibly damaging Het
Cdc5l A T 17: 45,719,290 (GRCm39) V541D possibly damaging Het
Chl1 A G 6: 103,624,248 (GRCm39) Y52C probably damaging Het
Ddhd2 A G 8: 26,243,155 (GRCm39) S126P probably benign Het
Dner CGCTGCTGCTGCTGCTGCTGCTGCTGC CGCTGCTGCTGCTGCTGCTGCTGC 1: 84,563,270 (GRCm39) probably benign Het
Drc3 A G 11: 60,279,715 (GRCm39) I427V probably benign Het
Drg2 T C 11: 60,350,353 (GRCm39) I104T probably damaging Het
Dst C T 1: 34,292,079 (GRCm39) A932V probably damaging Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Eif3a A T 19: 60,757,164 (GRCm39) D880E unknown Het
Elf1 T A 14: 79,818,078 (GRCm39) D569E probably benign Het
Esp6 T A 17: 40,873,816 (GRCm39) M1K probably null Het
Fer1l6 T C 15: 58,509,819 (GRCm39) V1427A possibly damaging Het
Gsta1 A T 9: 78,149,775 (GRCm39) K196M probably damaging Het
Gzme T A 14: 56,356,169 (GRCm39) I110F probably damaging Het
H2-DMa T A 17: 34,354,724 (GRCm39) V27E possibly damaging Het
H2-T10 A T 17: 36,432,038 (GRCm39) S2T probably benign Het
Hadhb A G 5: 30,374,492 (GRCm39) probably null Het
Hoxa11 G T 6: 52,220,436 (GRCm39) D282E probably damaging Het
Ifit1bl1 A G 19: 34,572,041 (GRCm39) Y139H possibly damaging Het
Ift27 A G 15: 78,049,436 (GRCm39) V88A possibly damaging Het
Knop1 C T 7: 118,452,273 (GRCm39) A149T probably damaging Het
Macf1 T A 4: 123,404,770 (GRCm39) K597I probably damaging Het
Med16 A T 10: 79,738,934 (GRCm39) I284N possibly damaging Het
Melk T A 4: 44,308,937 (GRCm39) I98K probably damaging Het
Mst1 G T 9: 107,958,849 (GRCm39) G127V probably benign Het
Nacad A G 11: 6,552,217 (GRCm39) S325P probably damaging Het
Nbea G A 3: 55,910,211 (GRCm39) P1328L probably benign Het
Nek5 C T 8: 22,586,806 (GRCm39) S335N probably benign Het
Nif3l1 C A 1: 58,486,885 (GRCm39) R24S probably benign Het
Nlrp14 T G 7: 106,789,329 (GRCm39) N39K possibly damaging Het
Nup50 T A 15: 84,823,928 (GRCm39) V427D probably damaging Het
Nwd1 C T 8: 73,383,714 (GRCm39) P78L probably damaging Het
Or5an9 T A 19: 12,187,114 (GRCm39) Y61* probably null Het
Pate8 G A 9: 36,492,620 (GRCm39) S95L probably benign Het
Pnkd A G 1: 74,388,550 (GRCm39) Y242C probably benign Het
Ppm1g T C 5: 31,360,465 (GRCm39) D423G probably benign Het
Pramel32 T A 4: 88,547,071 (GRCm39) Q116L probably damaging Het
Prkci A T 3: 31,097,941 (GRCm39) N464Y probably damaging Het
Ptprf C T 4: 118,093,161 (GRCm39) V494M possibly damaging Het
Rapgef4 T G 2: 71,885,370 (GRCm39) probably null Het
Rbak T C 5: 143,160,099 (GRCm39) E318G probably damaging Het
Rora A G 9: 69,271,667 (GRCm39) D215G probably benign Het
Rp1l1 C T 14: 64,266,496 (GRCm39) T694I possibly damaging Het
Scrib A G 15: 75,929,771 (GRCm39) L1032P probably damaging Het
Sectm1b G A 11: 120,946,652 (GRCm39) T81M probably benign Het
Sgk3 T C 1: 9,942,518 (GRCm39) F97L possibly damaging Het
Socs3 A T 11: 117,858,394 (GRCm39) Y221* probably null Het
Spata31d1e A T 13: 59,890,717 (GRCm39) S368T probably damaging Het
Tdrd6 T A 17: 43,938,498 (GRCm39) H850L probably benign Het
Tex44 G T 1: 86,354,908 (GRCm39) Q272H probably damaging Het
Tgfbr2 A C 9: 115,938,625 (GRCm39) S426A probably benign Het
Tmem39b T C 4: 129,570,456 (GRCm39) Y461C probably damaging Het
Ttn T A 2: 76,555,337 (GRCm39) D30556V probably damaging Het
Tubgcp5 T A 7: 55,475,455 (GRCm39) probably null Het
Vmn2r70 T C 7: 85,208,375 (GRCm39) I701V probably benign Het
Vps39 A T 2: 120,154,129 (GRCm39) L622Q probably damaging Het
Wdfy4 T A 14: 32,822,923 (GRCm39) H1347L probably benign Het
Xpo1 A G 11: 23,234,863 (GRCm39) I540V probably benign Het
Xylt2 A C 11: 94,560,393 (GRCm39) M294R probably benign Het
Zfp788 T G 7: 41,298,499 (GRCm39) Y326* probably null Het
Zim1 A G 7: 6,685,124 (GRCm39) F109L probably benign Het
Other mutations in D6Wsu163e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:D6Wsu163e APN 6 126,921,815 (GRCm39) missense possibly damaging 0.89
IGL02019:D6Wsu163e APN 6 126,932,184 (GRCm39) missense probably damaging 1.00
IGL02890:D6Wsu163e APN 6 126,951,450 (GRCm39) missense probably damaging 1.00
IGL02954:D6Wsu163e APN 6 126,951,441 (GRCm39) splice site probably benign
IGL03179:D6Wsu163e APN 6 126,927,074 (GRCm39) missense probably damaging 1.00
R0267:D6Wsu163e UTSW 6 126,923,454 (GRCm39) missense probably benign 0.17
R1405:D6Wsu163e UTSW 6 126,951,446 (GRCm39) splice site probably benign
R1636:D6Wsu163e UTSW 6 126,923,564 (GRCm39) missense possibly damaging 0.54
R1847:D6Wsu163e UTSW 6 126,932,112 (GRCm39) missense probably damaging 1.00
R5883:D6Wsu163e UTSW 6 126,943,879 (GRCm39) missense probably damaging 1.00
R7402:D6Wsu163e UTSW 6 126,938,968 (GRCm39) missense probably damaging 0.98
R7587:D6Wsu163e UTSW 6 126,932,859 (GRCm39) missense probably benign 0.00
R8229:D6Wsu163e UTSW 6 126,943,966 (GRCm39) missense probably benign 0.12
R8347:D6Wsu163e UTSW 6 126,932,251 (GRCm39) nonsense probably null
R8732:D6Wsu163e UTSW 6 126,932,859 (GRCm39) missense possibly damaging 0.72
R8903:D6Wsu163e UTSW 6 126,931,778 (GRCm39) missense probably damaging 1.00
R9206:D6Wsu163e UTSW 6 126,943,932 (GRCm39) missense probably benign 0.02
R9208:D6Wsu163e UTSW 6 126,943,932 (GRCm39) missense probably benign 0.02
R9333:D6Wsu163e UTSW 6 126,952,096 (GRCm39) missense probably damaging 0.99
R9747:D6Wsu163e UTSW 6 126,938,977 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- ATCCGCATTGCTTGCTCTGAGG -3'
(R):5'- TACAGAAGTCCAGCATGTCTGCCC -3'

Sequencing Primer
(F):5'- GCTTGTCACCGTGGATTAAC -3'
(R):5'- CAAGACTGTGGGTAGATCCATGTC -3'
Posted On 2014-03-28