Incidental Mutation 'R3746:Gm12800'
ID309798
Institutional Source Beutler Lab
Gene Symbol Gm12800
Ensembl Gene ENSMUSG00000037028
Gene Namepredicted gene 12800
Synonyms
MMRRC Submission 040732-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #R3746 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location101909121-101911908 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101909876 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 107 (D107E)
Ref Sequence ENSEMBL: ENSMUSP00000075380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075999]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075999
AA Change: D107E

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: D107E

DomainStartEndE-ValueType
SCOP:d1a4ya_ 206 410 9e-11 SMART
Meta Mutation Damage Score 0.0496 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 76,888,654 E347* probably null Het
Abcb5 T C 12: 118,874,620 D1069G probably damaging Het
Ago1 A G 4: 126,461,044 I125T probably benign Het
Ccdc40 T C 11: 119,264,426 V1164A probably benign Het
Chd7 G A 4: 8,752,537 V345M probably damaging Het
Cln6 A G 9: 62,847,002 I109V probably benign Het
Csmd3 A T 15: 47,849,766 F1604Y probably benign Het
Cx3cr1 T C 9: 120,052,066 H90R probably damaging Het
Dip2c A T 13: 9,601,473 D674V probably damaging Het
Dnah17 T C 11: 118,082,916 S1935G probably benign Het
Eif3g G A 9: 20,894,697 R295C probably benign Het
Epha5 T C 5: 84,059,104 K998E probably damaging Het
Fam171b A T 2: 83,879,600 T539S probably damaging Het
Fer1l4 G T 2: 156,035,048 H1159N probably benign Het
Fsip1 A G 2: 118,233,050 C313R probably damaging Het
Gm37240 T G 3: 84,519,612 N168T probably benign Het
Gm7589 T C 9: 59,145,855 noncoding transcript Het
Igkv20-101-2 A T 6: 68,474,958 I66L possibly damaging Het
Irf3 T C 7: 44,998,873 F54S probably damaging Het
Lrba T G 3: 86,375,953 L1858R probably damaging Het
Lrp10 A T 14: 54,469,266 N520I possibly damaging Het
Map3k21 A G 8: 125,935,100 K479E probably damaging Het
Mpdz A C 4: 81,363,147 V609G probably damaging Het
Olfr65 T A 7: 103,907,060 M207K probably benign Het
Opcml G A 9: 28,901,530 V173M possibly damaging Het
Osbpl7 T C 11: 97,056,053 V223A probably damaging Het
Pcdh17 A T 14: 84,533,037 Y985F probably benign Het
Piezo1 G T 8: 122,492,638 F1084L probably damaging Het
Pkhd1 A G 1: 20,058,300 *4060Q probably null Het
Plekhn1 T C 4: 156,225,594 T88A probably benign Het
Rmdn2 T A 17: 79,670,552 probably null Het
Selenom A G 11: 3,517,132 E137G probably benign Het
Slc38a7 A G 8: 95,843,752 probably benign Het
Slc39a12 T C 2: 14,396,067 probably benign Het
Slk T G 19: 47,619,809 D400E possibly damaging Het
Supt16 A G 14: 52,180,139 L306P probably damaging Het
Tas2r136 A T 6: 132,777,237 F309Y probably damaging Het
Tmem63a G A 1: 180,963,114 D446N possibly damaging Het
Trim63 G A 4: 134,315,354 C44Y probably damaging Het
Ush2a G A 1: 188,810,292 G3352S probably benign Het
Vmn1r4 A G 6: 56,957,131 R207G probably damaging Het
Vmn2r76 A G 7: 86,225,555 V738A probably benign Het
Vwa5b2 A G 16: 20,598,326 probably benign Het
Zfhx4 G A 3: 5,243,165 E484K possibly damaging Het
Other mutations in Gm12800
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02430:Gm12800 APN 4 101910280 missense probably benign 0.02
IGL02683:Gm12800 APN 4 101910354 missense probably benign 0.00
IGL03403:Gm12800 APN 4 101909928 missense probably benign 0.40
R0833:Gm12800 UTSW 4 101910097 missense probably damaging 0.97
R1054:Gm12800 UTSW 4 101909164 missense probably benign 0.00
R1953:Gm12800 UTSW 4 101910115 missense probably benign
R2216:Gm12800 UTSW 4 101910060 missense probably damaging 0.99
R3747:Gm12800 UTSW 4 101909876 missense possibly damaging 0.63
R3750:Gm12800 UTSW 4 101909876 missense possibly damaging 0.63
R4931:Gm12800 UTSW 4 101909170 missense possibly damaging 0.47
R5102:Gm12800 UTSW 4 101909239 missense probably damaging 1.00
R5586:Gm12800 UTSW 4 101910120 missense probably benign 0.00
R5822:Gm12800 UTSW 4 101910243 missense probably damaging 1.00
R6395:Gm12800 UTSW 4 101909992 missense probably benign
R6904:Gm12800 UTSW 4 101910094 missense possibly damaging 0.86
R7544:Gm12800 UTSW 4 101911402 missense possibly damaging 0.56
Z1088:Gm12800 UTSW 4 101910186 missense probably benign 0.00
Z1088:Gm12800 UTSW 4 101909118 unclassified probably null
Predicted Primers PCR Primer
(F):5'- GCTCATGCAGTGTTCTTGCC -3'
(R):5'- TTCATTTTCAGACAGCATAGCC -3'

Sequencing Primer
(F):5'- CAGTGTTCTTGCCTGCCTGG -3'
(R):5'- CTGCTGGGCCCATTGTAGAAAG -3'
Posted On2015-04-17