Incidental Mutation 'R9771:Gm18596'
ID 733452
Institutional Source Beutler Lab
Gene Symbol Gm18596
Ensembl Gene ENSMUSG00000112864
Gene Name predicted gene, 18596
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R9771 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 77577813-77578334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 77577962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 171 (S171A)
Ref Sequence ENSEMBL: ENSMUSP00000151937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092366] [ENSMUST00000218133]
AlphaFold A0A1W2P860
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: ENSMUST00000218133
AA Change: S171A
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,356,743 (GRCm39) I55T possibly damaging Het
Aldh1l1 A G 6: 90,575,310 (GRCm39) T866A probably benign Het
Alg12 A T 15: 88,700,373 (GRCm39) V21E probably damaging Het
Bod1l C A 5: 41,949,206 (GRCm39) R2972L probably damaging Het
Card6 T A 15: 5,129,693 (GRCm39) I568F probably benign Het
Ccdc89 A G 7: 90,075,810 (GRCm39) T7A probably benign Het
Cep112 A G 11: 108,573,517 (GRCm39) probably benign Het
Dnmbp T C 19: 43,855,031 (GRCm39) I297M probably damaging Het
Dpysl2 T C 14: 67,066,833 (GRCm39) E200G probably damaging Het
Etl4 T C 2: 20,811,537 (GRCm39) S1575P probably benign Het
Gmip T A 8: 70,266,718 (GRCm39) C278S probably benign Het
Gngt2 G T 11: 95,728,124 (GRCm39) probably benign Het
Gnptab G A 10: 88,268,485 (GRCm39) D531N probably damaging Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Kcnh7 A G 2: 62,569,719 (GRCm39) C726R probably damaging Het
Map4k4 T C 1: 40,025,877 (GRCm39) I289T unknown Het
Ndufb10 T C 17: 24,943,158 (GRCm39) probably null Het
Ngef G A 1: 87,431,010 (GRCm39) P269L probably damaging Het
Nol11 C A 11: 107,069,914 (GRCm39) W312L probably damaging Het
Or11i1 A T 3: 106,729,060 (GRCm39) Y272N possibly damaging Het
Or1p1c G A 11: 74,160,635 (GRCm39) R140H probably benign Het
Osbpl10 G A 9: 114,896,356 (GRCm39) R30Q probably benign Het
Osbpl6 T C 2: 76,423,771 (GRCm39) L878P possibly damaging Het
Pde6h T G 6: 136,936,359 (GRCm39) F34C probably damaging Het
Pkhd1l1 A G 15: 44,358,883 (GRCm39) H364R probably benign Het
Polr1f A G 12: 33,487,828 (GRCm39) T248A probably benign Het
Prss56 T C 1: 87,113,365 (GRCm39) I231T possibly damaging Het
Ptcd3 G A 6: 71,872,903 (GRCm39) R263* probably null Het
Ptprq T A 10: 107,521,085 (GRCm39) I696F probably damaging Het
Sdk1 A T 5: 142,082,624 (GRCm39) I1341F probably damaging Het
Sema3d A G 5: 12,613,207 (GRCm39) Y428C probably damaging Het
Sh3tc1 A C 5: 35,873,654 (GRCm39) F217C probably damaging Het
Sptb G A 12: 76,650,353 (GRCm39) T1788I probably damaging Het
Stard13 G A 5: 150,983,048 (GRCm39) P672L probably damaging Het
Styk1 CTCTTCATGATTTTCTT CTCTT 6: 131,278,612 (GRCm39) probably benign Het
Tada3 A C 6: 113,349,319 (GRCm39) S244A probably benign Het
Tnc T A 4: 63,925,600 (GRCm39) I979F probably damaging Het
Usp10 CAA CAAA 8: 120,658,620 (GRCm39) probably null Het
Vmn1r177 T C 7: 23,565,657 (GRCm39) N73S probably damaging Het
Vmn2r1 A G 3: 63,997,559 (GRCm39) E405G possibly damaging Het
Vmn2r2 T C 3: 64,042,079 (GRCm39) H212R possibly damaging Het
Wdfy3 A G 5: 102,000,195 (GRCm39) L3015P probably damaging Het
Wdr11 T C 7: 129,206,851 (GRCm39) S255P probably damaging Het
Ypel3 T C 7: 126,379,226 (GRCm39) Y100H probably damaging Het
Other mutations in Gm18596
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7162:Gm18596 UTSW 10 77,578,034 (GRCm39) missense unknown
R7657:Gm18596 UTSW 10 77,577,947 (GRCm39) missense unknown
R8925:Gm18596 UTSW 10 77,578,162 (GRCm39) missense unknown
R8927:Gm18596 UTSW 10 77,578,162 (GRCm39) missense unknown
Z1177:Gm18596 UTSW 10 77,578,455 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TGTCAGCAGCTGGACTTCTG -3'
(R):5'- ATCTGTACCCCAGTGAGCTGTG -3'

Sequencing Primer
(F):5'- ACTTCTGTCCACAGCAGGC -3'
(R):5'- CCAGTGAGCTGTGTGTCCAG -3'
Posted On 2022-11-14