Incidental Mutation 'R2355:Gm5930'
ID 246891
Institutional Source Beutler Lab
Gene Symbol Gm5930
Ensembl Gene ENSMUSG00000079267
Gene Name predicted gene 5930
Synonyms
MMRRC Submission 040337-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R2355 (G1)
Quality Score 222
Status Not validated
Chromosome 14
Chromosomal Location 44567899-44576041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44573918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 105 (S105P)
Ref Sequence ENSEMBL: ENSMUSP00000136583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111863] [ENSMUST00000178002]
AlphaFold D3Z257
Predicted Effect probably damaging
Transcript: ENSMUST00000111863
AA Change: S140P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107494
Gene: ENSMUSG00000079267
AA Change: S140P

DomainStartEndE-ValueType
Pfam:Takusan 48 127 1.4e-27 PFAM
coiled coil region 147 177 N/A INTRINSIC
transmembrane domain 237 259 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000178002
AA Change: S105P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136583
Gene: ENSMUSG00000079267
AA Change: S105P

DomainStartEndE-ValueType
Pfam:Takusan 11 94 9.3e-37 PFAM
coiled coil region 112 142 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 CGG CG 5: 124,215,368 (GRCm39) probably null Het
Ahcyl1 A G 3: 107,577,533 (GRCm39) S296P probably damaging Het
Alas1 A G 9: 106,113,673 (GRCm39) V524A probably damaging Het
Amn C A 12: 111,238,246 (GRCm39) D53E probably damaging Het
Bbof1 A G 12: 84,470,223 (GRCm39) E33G probably damaging Het
Ccdc149 T C 5: 52,578,114 (GRCm39) E106G probably damaging Het
Ceacam5 T A 7: 17,479,560 (GRCm39) S226T probably damaging Het
Chd7 G T 4: 8,801,350 (GRCm39) S698I possibly damaging Het
Chst2 A G 9: 95,288,148 (GRCm39) L66P probably damaging Het
Cps1 C T 1: 67,195,383 (GRCm39) P268L probably damaging Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Cyp3a59 A T 5: 146,036,622 (GRCm39) M275L probably benign Het
Ddx41 T G 13: 55,682,113 (GRCm39) M232L probably benign Het
Dnah6 C A 6: 73,133,404 (GRCm39) A1068S possibly damaging Het
Dnah7a T C 1: 53,621,661 (GRCm39) I1155V probably benign Het
Dop1b G A 16: 93,567,565 (GRCm39) V611I probably damaging Het
Epyc A G 10: 97,512,875 (GRCm39) Y243C probably damaging Het
Fam171a1 C T 2: 3,226,570 (GRCm39) Q568* probably null Het
Golga4 A G 9: 118,389,810 (GRCm39) D2032G probably benign Het
Gps2 AGTGCT A 11: 69,806,207 (GRCm39) probably null Het
H2-DMb1 A G 17: 34,376,289 (GRCm39) Y136C probably damaging Het
Il12b A G 11: 44,301,039 (GRCm39) E185G probably benign Het
Kat7 A C 11: 95,182,407 (GRCm39) I231R probably benign Het
Kcmf1 A T 6: 72,827,466 (GRCm39) I58N probably damaging Het
Lmf2 A T 15: 89,235,966 (GRCm39) V646E possibly damaging Het
Lmo7 A G 14: 102,126,121 (GRCm39) Q409R probably damaging Het
Lmod1 T A 1: 135,292,253 (GRCm39) H369Q probably benign Het
M1ap G A 6: 82,933,484 (GRCm39) A13T probably benign Het
Mapk8ip2 G T 15: 89,343,168 (GRCm39) V637L probably benign Het
Mettl25 C A 10: 105,599,316 (GRCm39) V570L probably benign Het
Mfsd1 T A 3: 67,508,668 (GRCm39) N449K probably damaging Het
Or56a5 A T 7: 104,793,020 (GRCm39) M166K probably benign Het
Or5b24 T C 19: 12,912,383 (GRCm39) S94P possibly damaging Het
Or5d18 T A 2: 87,865,379 (GRCm39) I35F probably damaging Het
Or6c209 G A 10: 129,483,711 (GRCm39) C238Y probably benign Het
Pcdhb5 T A 18: 37,455,169 (GRCm39) S516R probably benign Het
Plppr3 C T 10: 79,701,194 (GRCm39) M549I possibly damaging Het
Ppl A G 16: 4,912,361 (GRCm39) V740A probably benign Het
Rabgef1 C T 5: 130,240,928 (GRCm39) T349M probably benign Het
Rad51ap2 T C 12: 11,507,109 (GRCm39) C344R probably benign Het
Shank2 A G 7: 143,611,455 (GRCm39) Q172R possibly damaging Het
Smg9 G A 7: 24,119,546 (GRCm39) probably null Het
Tectb C G 19: 55,169,431 (GRCm39) probably benign Het
Trim42 A T 9: 97,241,293 (GRCm39) N646K probably damaging Het
Usp32 T C 11: 84,896,735 (GRCm39) I1181V probably benign Het
Vwa5b1 C A 4: 138,319,221 (GRCm39) probably null Het
Other mutations in Gm5930
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Gm5930 APN 14 44,575,087 (GRCm39) missense probably benign 0.04
IGL02536:Gm5930 APN 14 44,575,015 (GRCm39) missense probably damaging 1.00
IGL03291:Gm5930 APN 14 44,568,905 (GRCm39) missense possibly damaging 0.73
PIT4696001:Gm5930 UTSW 14 44,573,993 (GRCm39) missense probably damaging 1.00
R2219:Gm5930 UTSW 14 44,573,993 (GRCm39) missense probably damaging 1.00
R5466:Gm5930 UTSW 14 44,575,014 (GRCm39) missense probably damaging 1.00
R5592:Gm5930 UTSW 14 44,568,886 (GRCm39) missense probably benign 0.01
R6505:Gm5930 UTSW 14 44,568,828 (GRCm39) makesense probably null
R7292:Gm5930 UTSW 14 44,574,014 (GRCm39) missense probably damaging 1.00
R7338:Gm5930 UTSW 14 44,573,914 (GRCm39) missense probably damaging 1.00
R8232:Gm5930 UTSW 14 44,573,181 (GRCm39) missense probably damaging 0.99
R8693:Gm5930 UTSW 14 44,576,015 (GRCm39) start codon destroyed probably null 0.60
R9017:Gm5930 UTSW 14 44,568,858 (GRCm39) missense possibly damaging 0.86
R9115:Gm5930 UTSW 14 44,575,006 (GRCm39) nonsense probably null
R9558:Gm5930 UTSW 14 44,576,014 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGACAATATTCACACTTAGGAAACC -3'
(R):5'- TGGGAACTCCAGATACAGCC -3'

Sequencing Primer
(F):5'- TTCACACTTAGGAAACCTGAGTC -3'
(R):5'- GGGAACTCCAGATACAGCCTTTTTG -3'
Posted On 2014-10-30