Incidental Mutation 'R6504:Gm7233'
ID 523640
Institutional Source Beutler Lab
Gene Symbol Gm7233
Ensembl Gene ENSMUSG00000094151
Gene Name predicted gene 7233
Synonyms
MMRRC Submission 044636-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R6504 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 43037254-43045109 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43037394 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 15 (D15E)
Ref Sequence ENSEMBL: ENSMUSP00000130326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000168619]
AlphaFold E9PZI8
Predicted Effect probably benign
Transcript: ENSMUST00000168619
AA Change: D15E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130326
Gene: ENSMUSG00000094151
AA Change: D15E

DomainStartEndE-ValueType
Pfam:Takusan 46 129 1.6e-36 PFAM
coiled coil region 148 175 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224919
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,213,569 (GRCm39) T31A probably benign Het
Adam12 A T 7: 133,531,713 (GRCm39) H507Q probably damaging Het
Ampd1 A G 3: 103,006,911 (GRCm39) D712G possibly damaging Het
Ap4m1 T A 5: 138,176,358 (GRCm39) D351E probably benign Het
Celsr1 T C 15: 85,863,121 (GRCm39) T1304A probably benign Het
Dhx36 G T 3: 62,396,060 (GRCm39) A449E probably benign Het
Dmkn A T 7: 30,475,854 (GRCm39) K2N possibly damaging Het
Dnah10 T C 5: 124,839,846 (GRCm39) I1217T possibly damaging Het
Dph5 A G 3: 115,720,452 (GRCm39) probably null Het
Dysf T C 6: 83,985,907 (GRCm39) V4A probably benign Het
Elavl4 A T 4: 110,112,579 (GRCm39) probably null Het
Ep400 T C 5: 110,856,703 (GRCm39) probably benign Het
Fat2 A G 11: 55,153,223 (GRCm39) I3663T probably benign Het
Grik2 A G 10: 49,232,198 (GRCm39) V444A probably damaging Het
Hdac4 T A 1: 91,896,177 (GRCm39) I698F possibly damaging Het
Kank1 T C 19: 25,405,518 (GRCm39) S1179P probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Ofcc1 A T 13: 40,250,531 (GRCm39) L595Q probably damaging Het
Or10d3 C T 9: 39,461,574 (GRCm39) V198M probably damaging Het
Or5b110-ps1 A C 19: 13,259,848 (GRCm39) H191Q possibly damaging Het
Orc1 A G 4: 108,447,914 (GRCm39) I54V probably benign Het
Pom121l2 A G 13: 22,167,631 (GRCm39) Q634R possibly damaging Het
Prrc2c A G 1: 162,525,364 (GRCm39) V414A unknown Het
Ranbp3l T C 15: 8,997,946 (GRCm39) F13L probably benign Het
Scaf11 T C 15: 96,317,341 (GRCm39) probably null Het
Sh3d19 A G 3: 85,992,643 (GRCm39) T224A probably benign Het
Shq1 T A 6: 100,625,208 (GRCm39) Y217F probably benign Het
Slitrk1 A T 14: 109,149,129 (GRCm39) H527Q probably benign Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Stxbp1 T C 2: 32,691,895 (GRCm39) I432M possibly damaging Het
Sulf2 A G 2: 165,925,841 (GRCm39) Y439H probably benign Het
Thoc5 T A 11: 4,874,815 (GRCm39) C535* probably null Het
Tlr3 T C 8: 45,850,486 (GRCm39) I280V possibly damaging Het
Ush2a A G 1: 188,643,444 (GRCm39) S4269G probably benign Het
Vmn1r214 A T 13: 23,219,610 (GRCm39) *368L probably null Het
Wif1 C G 10: 120,870,996 (GRCm39) Q92E probably damaging Het
Other mutations in Gm7233
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4783:Gm7233 UTSW 14 43,037,423 (GRCm39) missense probably benign 0.40
R4786:Gm7233 UTSW 14 43,038,347 (GRCm39) missense probably benign 0.11
R6326:Gm7233 UTSW 14 43,040,342 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CAACAGAAACTGGTCAATTTGAGG -3'
(R):5'- AAAGTCCAAGGCTCCAGCTC -3'

Sequencing Primer
(F):5'- CAGTGACATCATCAGTAATGCCTTC -3'
(R):5'- GCTCTTAATATCTACTCAGGGAAGGC -3'
Posted On 2018-06-22