Incidental Mutation 'R7910:Gm11992'
ID 610456
Institutional Source Beutler Lab
Gene Symbol Gm11992
Ensembl Gene ENSMUSG00000040978
Gene Name predicted gene 11992
Synonyms
MMRRC Submission 045959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7910 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 8998592-9019354 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8999165 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 7 (E7G)
Ref Sequence ENSEMBL: ENSMUSP00000039806 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043285] [ENSMUST00000102909]
AlphaFold Q5SS90
Predicted Effect probably damaging
Transcript: ENSMUST00000043285
AA Change: E7G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000039806
Gene: ENSMUSG00000040978
AA Change: E7G

DomainStartEndE-ValueType
low complexity region 244 255 N/A INTRINSIC
low complexity region 259 269 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102909
SMART Domains Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985

DomainStartEndE-ValueType
Pfam:Sad1_UNC 122 256 3.2e-48 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544G11Rik A T 6: 65,930,289 (GRCm39) T175S probably benign Het
Abca13 A G 11: 9,531,590 (GRCm39) I4606V probably damaging Het
Abca3 G A 17: 24,604,827 (GRCm39) V645I probably benign Het
Abi3bp A T 16: 56,498,105 (GRCm39) R980* probably null Het
Acsl6 G T 11: 54,236,797 (GRCm39) G564* probably null Het
Alppl2 T C 1: 87,015,159 (GRCm39) E430G probably benign Het
Anks1b A G 10: 90,516,654 (GRCm39) Y883C probably damaging Het
Atp11b T C 3: 35,885,652 (GRCm39) F882L possibly damaging Het
Atrn T A 2: 130,806,807 (GRCm39) H609Q probably benign Het
Bcl2l13 A T 6: 120,842,646 (GRCm39) K113M possibly damaging Het
Brinp2 T A 1: 158,074,450 (GRCm39) N557I probably damaging Het
C4b A G 17: 34,959,326 (GRCm39) L416P probably benign Het
Ccdc125 T A 13: 100,819,327 (GRCm39) I163K possibly damaging Het
Ccdc136 T G 6: 29,420,033 (GRCm39) D1075E probably benign Het
Cdc45 T A 16: 18,629,203 (GRCm39) Y47F probably damaging Het
Cdk10 T C 8: 123,953,105 (GRCm39) V36A probably damaging Het
Ciz1 T A 2: 32,260,139 (GRCm39) probably null Het
Clasp1 T G 1: 118,530,144 (GRCm39) L1502* probably null Het
Crtc1 G T 8: 70,840,251 (GRCm39) Q541K probably benign Het
Ddx5 G T 11: 106,675,261 (GRCm39) T358N probably damaging Het
Ehbp1l1 A T 19: 5,766,452 (GRCm39) V1297E probably benign Het
Eif2d C A 1: 131,082,950 (GRCm39) T98K probably damaging Het
Ezh2 T C 6: 47,533,077 (GRCm39) D124G probably damaging Het
Gamt T G 10: 80,094,243 (GRCm39) I223L possibly damaging Het
Gbp7 T C 3: 142,240,402 (GRCm39) V40A probably damaging Het
Gml2 A G 15: 74,692,379 (GRCm39) probably null Het
Grem2 A G 1: 174,664,813 (GRCm39) V12A probably benign Het
Gsta1 T A 9: 78,139,577 (GRCm39) I19N probably damaging Het
Gstt2 T C 10: 75,667,736 (GRCm39) I240V probably benign Het
Hectd4 T C 5: 121,392,291 (GRCm39) L185S possibly damaging Het
Hsd3b7 G A 7: 127,400,419 (GRCm39) probably null Het
Ift22 T A 5: 136,940,638 (GRCm39) M101K probably benign Het
Irs1 A G 1: 82,267,802 (GRCm39) V138A probably benign Het
Ky A G 9: 102,419,141 (GRCm39) M383V possibly damaging Het
Lama4 A G 10: 38,946,005 (GRCm39) E796G probably damaging Het
Lcp2 A G 11: 34,038,061 (GRCm39) Y426C probably damaging Het
Lig3 A G 11: 82,688,601 (GRCm39) D755G probably damaging Het
Lrrc43 T A 5: 123,630,470 (GRCm39) I111N probably damaging Het
Lrrc43 A G 5: 123,639,084 (GRCm39) D371G probably benign Het
Lrrc74b C A 16: 17,376,213 (GRCm39) G146* probably null Het
Lrrfip1 A G 1: 91,047,874 (GRCm39) K479E possibly damaging Het
Lrriq1 C A 10: 103,051,055 (GRCm39) E566* probably null Het
Mlxipl C T 5: 135,161,263 (GRCm39) A394V possibly damaging Het
Myh14 T C 7: 44,281,819 (GRCm39) Y813C probably damaging Het
Nat10 T A 2: 103,555,490 (GRCm39) E943D probably benign Het
Nectin2 T A 7: 19,466,912 (GRCm39) K226* probably null Het
Nlrc5 T G 8: 95,219,720 (GRCm39) S1103R probably benign Het
Nr4a1 T A 15: 101,169,641 (GRCm39) Y304N probably damaging Het
Ntpcr T C 8: 126,474,483 (GRCm39) V184A probably benign Het
Or1j13 T A 2: 36,369,345 (GRCm39) N266Y probably damaging Het
Or5p73 T C 7: 108,064,978 (GRCm39) V149A probably benign Het
Or5t18 A G 2: 86,637,191 (GRCm39) S51P probably benign Het
Oxr1 A C 15: 41,517,030 (GRCm39) S65R possibly damaging Het
Pcdhb19 A T 18: 37,630,720 (GRCm39) I172L probably benign Het
Pds5a A T 5: 65,795,925 (GRCm39) I655N possibly damaging Het
Pik3cg T C 12: 32,250,516 (GRCm39) Y757C probably benign Het
Plekha5 C A 6: 140,472,184 (GRCm39) T37N possibly damaging Het
Ppp4r1 T A 17: 66,118,298 (GRCm39) F167I probably benign Het
Ppp4r1 C T 17: 66,136,394 (GRCm39) A534V probably damaging Het
Ppt2 T A 17: 34,846,300 (GRCm39) probably null Het
Prrt2 A T 7: 126,619,219 (GRCm39) V82D possibly damaging Het
Rassf5 T A 1: 131,108,366 (GRCm39) Y338F probably benign Het
Rbbp6 G A 7: 122,596,251 (GRCm39) V560I possibly damaging Het
Rcbtb1 T C 14: 59,474,127 (GRCm39) M90T unknown Het
Rif1 T A 2: 51,968,399 (GRCm39) L194* probably null Het
Rybp A T 6: 100,209,879 (GRCm39) I128K possibly damaging Het
Samm50 T G 15: 84,098,346 (GRCm39) F462V possibly damaging Het
Slain1 T C 14: 103,923,200 (GRCm39) Y264H probably damaging Het
Slc29a4 C T 5: 142,691,156 (GRCm39) P12L probably benign Het
Slc6a2 T C 8: 93,720,766 (GRCm39) I461T possibly damaging Het
Soat2 A G 15: 102,069,106 (GRCm39) D377G probably damaging Het
Spocd1 A G 4: 129,823,893 (GRCm39) E230G Het
Tbc1d30 T A 10: 121,183,061 (GRCm39) K126* probably null Het
Tgfbi T A 13: 56,779,997 (GRCm39) F515L probably damaging Het
Utf1 A G 7: 139,524,704 (GRCm39) probably benign Het
Vmn1r206 G T 13: 22,804,471 (GRCm39) Y245* probably null Het
Vmn1r87 T A 7: 12,865,832 (GRCm39) S152C probably damaging Het
Zfc3h1 C A 10: 115,256,588 (GRCm39) Y1519* probably null Het
Zfp248 A T 6: 118,407,103 (GRCm39) L162H possibly damaging Het
Zfp804a T A 2: 82,086,917 (GRCm39) F249I probably damaging Het
Other mutations in Gm11992
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:Gm11992 APN 11 9,018,383 (GRCm39) makesense probably null
IGL01837:Gm11992 APN 11 9,011,266 (GRCm39) missense probably damaging 1.00
IGL02405:Gm11992 APN 11 9,009,939 (GRCm39) missense probably benign 0.00
IGL02875:Gm11992 APN 11 9,002,887 (GRCm39) unclassified probably benign
P0023:Gm11992 UTSW 11 9,002,846 (GRCm39) missense probably damaging 1.00
R5100:Gm11992 UTSW 11 9,011,290 (GRCm39) missense probably damaging 0.99
R5471:Gm11992 UTSW 11 9,018,333 (GRCm39) critical splice acceptor site probably null
R5935:Gm11992 UTSW 11 9,002,711 (GRCm39) missense probably damaging 1.00
R6715:Gm11992 UTSW 11 9,011,214 (GRCm39) missense probably damaging 1.00
R7559:Gm11992 UTSW 11 9,002,747 (GRCm39) missense possibly damaging 0.94
R8397:Gm11992 UTSW 11 9,011,305 (GRCm39) missense probably damaging 1.00
R9696:Gm11992 UTSW 11 9,006,438 (GRCm39) missense probably benign 0.01
R9702:Gm11992 UTSW 11 9,006,568 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GTATATTCTGTCGCATGTGCCC -3'
(R):5'- CAATGGGCTCCTACCTTCTG -3'

Sequencing Primer
(F):5'- ACACGGTGCTGTCCTGTGAC -3'
(R):5'- CTGTAGCCTTGCATGCAAAG -3'
Posted On 2019-12-20