Incidental Mutation 'R6142:Gm28168'
ID 488605
Institutional Source Beutler Lab
Gene Symbol Gm28168
Ensembl Gene ENSMUSG00000101415
Gene Name predicted gene 28168
Synonyms
MMRRC Submission 044289-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R6142 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 117855745-117877718 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117875678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 102 (D102E)
Ref Sequence ENSEMBL: ENSMUSP00000139435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000191265]
AlphaFold A0A087WNP1
Predicted Effect probably benign
Transcript: ENSMUST00000191265
AA Change: D102E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000139435
Gene: ENSMUSG00000101415
AA Change: D102E

DomainStartEndE-ValueType
KRAB 8 64 7.9e-25 SMART
ZnF_C2H2 77 99 7.2e-7 SMART
ZnF_C2H2 105 127 8e-5 SMART
ZnF_C2H2 133 153 4.2e-2 SMART
Pfam:zf-C2H2_4 160 180 5.8e-1 PFAM
Pfam:zf-C2H2 163 180 3e-2 PFAM
Pfam:zf-C2H2_6 164 179 8.6e0 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.2%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,496,303 (GRCm39) M579V probably benign Het
Agtr1b T C 3: 20,370,558 (GRCm39) D16G probably benign Het
Akap12 C A 10: 4,263,740 (GRCm39) probably null Het
Alpk2 T C 18: 65,438,456 (GRCm39) E979G possibly damaging Het
Arfgap3 T C 15: 83,234,328 (GRCm39) D8G probably damaging Het
AW551984 G T 9: 39,508,410 (GRCm39) L369I probably benign Het
Bmp8b A T 4: 123,009,043 (GRCm39) H207L probably benign Het
Cc2d2a G T 5: 43,860,540 (GRCm39) V490F probably damaging Het
Cnot6l C T 5: 96,230,837 (GRCm39) V377I probably benign Het
Col25a1 T A 3: 130,376,978 (GRCm39) probably benign Het
Crocc2 C G 1: 93,118,201 (GRCm39) Q375E possibly damaging Het
Ganc T C 2: 120,261,218 (GRCm39) probably null Het
Gm8212 T C 14: 44,438,684 (GRCm39) probably null Het
Gria2 T C 3: 80,709,024 (GRCm39) T53A probably benign Het
Hipk4 G A 7: 27,228,590 (GRCm39) V347M probably damaging Het
Hmgxb3 T C 18: 61,269,309 (GRCm39) E991G probably benign Het
Hyal1 G A 9: 107,456,573 (GRCm39) R420H probably benign Het
Il5 G A 11: 53,611,805 (GRCm39) probably null Het
Kcnh7 T C 2: 62,569,704 (GRCm39) I731V possibly damaging Het
Lamb2 A T 9: 108,362,817 (GRCm39) K759* probably null Het
Lnpep A G 17: 17,786,943 (GRCm39) probably null Het
Lrch1 T C 14: 75,184,940 (GRCm39) E54G probably damaging Het
Msl3l2 A G 10: 55,991,461 (GRCm39) D62G possibly damaging Het
Mslnl T C 17: 25,963,531 (GRCm39) L339P probably damaging Het
Nfe2l2 T C 2: 75,509,761 (GRCm39) I20V probably damaging Het
Pgm5 A C 19: 24,801,772 (GRCm39) I152S probably damaging Het
Plcg2 C A 8: 118,312,010 (GRCm39) T434K probably benign Het
Prrc2c T C 1: 162,537,956 (GRCm39) E558G unknown Het
Ranbp3 T C 17: 56,993,018 (GRCm39) V12A probably benign Het
Rgsl1 A G 1: 153,687,984 (GRCm39) V635A probably benign Het
Rpap2 T C 5: 107,746,164 (GRCm39) V14A probably benign Het
Rxrg G T 1: 167,460,191 (GRCm39) A341S possibly damaging Het
Sbf2 A G 7: 109,948,182 (GRCm39) S1177P probably damaging Het
Sema6a T C 18: 47,414,266 (GRCm39) T498A probably benign Het
Slc13a4 G A 6: 35,278,718 (GRCm39) A57V probably damaging Het
Slc6a3 A T 13: 73,692,902 (GRCm39) D174V probably benign Het
Spart T G 3: 55,024,669 (GRCm39) V88G probably damaging Het
Tanc1 A T 2: 59,663,566 (GRCm39) R1108* probably null Het
Tas2r140 C T 6: 133,032,698 (GRCm39) G20E probably damaging Het
Tdrd6 A G 17: 43,940,373 (GRCm39) V225A probably benign Het
Tmem168 C A 6: 13,591,368 (GRCm39) A99S probably benign Het
Tnk2 T A 16: 32,488,917 (GRCm39) D252E probably damaging Het
Tpsg1 A T 17: 25,591,460 (GRCm39) H20L probably benign Het
Tram1l1 T C 3: 124,115,092 (GRCm39) F84S probably damaging Het
Vmn2r12 T A 5: 109,240,763 (GRCm39) I117L probably benign Het
Zfp148 T C 16: 33,315,829 (GRCm39) L219S possibly damaging Het
Zfp40 C A 17: 23,395,311 (GRCm39) E425D probably benign Het
Zfp773 T C 7: 7,135,481 (GRCm39) T372A probably benign Het
Other mutations in Gm28168
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6510:Gm28168 UTSW 1 117,875,685 (GRCm39) missense probably damaging 1.00
R7495:Gm28168 UTSW 1 117,875,637 (GRCm39) missense possibly damaging 0.69
R7975:Gm28168 UTSW 1 117,875,820 (GRCm39) missense probably benign 0.10
R8129:Gm28168 UTSW 1 117,857,483 (GRCm39) missense probably damaging 0.98
R8824:Gm28168 UTSW 1 117,875,625 (GRCm39) missense probably benign
R9682:Gm28168 UTSW 1 117,875,824 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AATATACTGCTGGTAGTGAAGAGTG -3'
(R):5'- CTGAATACCGTGTAAAAGATTTGCC -3'

Sequencing Primer
(F):5'- TGGAAGTGATCTGTTTGTAAAACAC -3'
(R):5'- CCGTGTAAAAGATTTGCCACATAC -3'
Posted On 2017-10-10