Incidental Mutation 'R7115:Gm2696'
ID 551735
Institutional Source Beutler Lab
Gene Symbol Gm2696
Ensembl Gene ENSMUSG00000112600
Gene Name predicted gene 2696
Synonyms
MMRRC Submission 045206-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.528) question?
Stock # R7115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77650456-77651238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 77672133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 111 (C111S)
Ref Sequence ENSEMBL: ENSMUSP00000151569 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000218843] [ENSMUST00000220393]
AlphaFold A0A1W2P709
Predicted Effect probably benign
Transcript: ENSMUST00000092366
SMART Domains Protein: ENSMUSP00000090020
Gene: ENSMUSG00000069581

DomainStartEndE-ValueType
Blast:TSPN 1 71 8e-40 BLAST
SCOP:d1c4ra_ 2 67 2e-7 SMART
low complexity region 190 200 N/A INTRINSIC
Pfam:EPTP 208 255 2.6e-22 PFAM
Pfam:EPTP 260 307 1.4e-21 PFAM
Pfam:EPTP 312 359 8.9e-14 PFAM
Pfam:EPTP 362 417 6.2e-13 PFAM
Pfam:EPTP 422 469 1.3e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000218843
AA Change: C101S
Predicted Effect unknown
Transcript: ENSMUST00000220393
AA Change: C111S
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,255,589 (GRCm39) I636N probably benign Het
Adam5 A G 8: 25,271,712 (GRCm39) I565T possibly damaging Het
Amd2 C A 10: 35,587,633 (GRCm39) probably benign Het
Ap5m1 T A 14: 49,323,727 (GRCm39) Y472* probably null Het
Apcdd1 T C 18: 63,070,024 (GRCm39) F97S probably damaging Het
Axdnd1 T C 1: 156,208,446 (GRCm39) K267R Het
Carf G T 1: 60,187,309 (GRCm39) L637F probably damaging Het
Ccdc103 A T 11: 102,774,636 (GRCm39) S95C possibly damaging Het
Cfap20 T C 8: 96,147,874 (GRCm39) I156V probably benign Het
Csn1s2a T C 5: 87,929,664 (GRCm39) C96R probably benign Het
Cspg4b T G 13: 113,457,310 (GRCm39) S1119A Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Dennd2a G A 6: 39,483,645 (GRCm39) T405M probably damaging Het
Dennd5a A G 7: 109,493,961 (GRCm39) Y1248H probably damaging Het
Dnah14 A T 1: 181,547,710 (GRCm39) K2504N probably damaging Het
Dnajb2 G A 1: 75,220,306 (GRCm39) G275D Het
Elf3 T G 1: 135,184,856 (GRCm39) D110A probably damaging Het
Eomes A G 9: 118,313,557 (GRCm39) N534S probably benign Het
Fry A T 5: 150,309,532 (GRCm39) R659W probably damaging Het
Gm10428 G A 11: 62,644,206 (GRCm39) C94Y unknown Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Lrp1b T A 2: 40,888,247 (GRCm39) N2338Y Het
Map2k1 A G 9: 64,119,888 (GRCm39) I139T probably damaging Het
Or10n7-ps1 T C 9: 39,598,003 (GRCm39) Y79C probably benign Het
Or8g20 T C 9: 39,395,944 (GRCm39) I202V probably benign Het
Pxylp1 G A 9: 96,707,063 (GRCm39) T373I probably benign Het
Ranbp9 T C 13: 43,560,147 (GRCm39) N484S probably benign Het
Rassf5 A G 1: 131,108,986 (GRCm39) V293A probably benign Het
Ring1 A G 17: 34,242,420 (GRCm39) I29T probably damaging Het
Scn1a G A 2: 66,154,962 (GRCm39) Q666* probably null Het
Spice1 G A 16: 44,199,638 (GRCm39) G697R probably benign Het
Tas2r131 A G 6: 132,934,567 (GRCm39) F81L probably benign Het
Tenm2 G A 11: 36,054,644 (GRCm39) S572L probably damaging Het
Tfr2 A G 5: 137,569,977 (GRCm39) T128A probably benign Het
Trim56 T A 5: 137,142,514 (GRCm39) Q334L probably damaging Het
Vmn2r44 T A 7: 8,370,527 (GRCm39) R840* probably null Het
Other mutations in Gm2696
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB005:Gm2696 UTSW 10 77,650,723 (GRCm39) missense unknown
BB015:Gm2696 UTSW 10 77,650,723 (GRCm39) missense unknown
R6249:Gm2696 UTSW 10 77,630,646 (GRCm39) unclassified probably benign
R6320:Gm2696 UTSW 10 77,671,972 (GRCm39) intron probably benign
R6520:Gm2696 UTSW 10 77,672,332 (GRCm39) intron probably benign
R7928:Gm2696 UTSW 10 77,650,723 (GRCm39) missense unknown
R8725:Gm2696 UTSW 10 77,672,034 (GRCm39) missense unknown
R8746:Gm2696 UTSW 10 77,651,037 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTGATGCTCGCACCAACTC -3'
(R):5'- ACCTGGGGAATTCTAAAGCATG -3'

Sequencing Primer
(F):5'- ATGACTGCCCAGAGAGCTG -3'
(R):5'- TCAGCAGCTGGACTTCTGG -3'
Posted On 2019-05-15