Incidental Mutation 'R9359:Gm10549'
ID 708604
Institutional Source Beutler Lab
Gene Symbol Gm10549
Ensembl Gene ENSMUSG00000073610
Gene Name predicted gene 10549
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 33597216-33607763 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 33597375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 54 (P54S)
Ref Sequence ENSEMBL: ENSMUSP00000095236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051087] [ENSMUST00000097634] [ENSMUST00000168890] [ENSMUST00000171533]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000051087
SMART Domains Protein: ENSMUSP00000058132
Gene: ENSMUSG00000042834

DomainStartEndE-ValueType
Pfam:Alveol-reg_P311 1 68 2.6e-41 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000097634
AA Change: P54S
SMART Domains Protein: ENSMUSP00000095236
Gene: ENSMUSG00000073610
AA Change: P54S

DomainStartEndE-ValueType
low complexity region 56 79 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168890
SMART Domains Protein: ENSMUSP00000130297
Gene: ENSMUSG00000042834

DomainStartEndE-ValueType
Pfam:Alveol-reg_P311 1 68 2.6e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171533
SMART Domains Protein: ENSMUSP00000127787
Gene: ENSMUSG00000042834

DomainStartEndE-ValueType
Pfam:Alveol-reg_P311 1 68 2.6e-41 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Uspl1 G A 5: 149,146,481 (GRCm39) V411M probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Gm10549
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02648:Gm10549 APN 18 33,597,303 (GRCm39) unclassified probably benign
R0374:Gm10549 UTSW 18 33,597,235 (GRCm39) unclassified probably benign
R0668:Gm10549 UTSW 18 33,603,903 (GRCm39) missense unknown
R1806:Gm10549 UTSW 18 33,603,841 (GRCm39) missense unknown
R4214:Gm10549 UTSW 18 33,597,530 (GRCm39) splice site probably null
R4826:Gm10549 UTSW 18 33,603,838 (GRCm39) missense unknown
R5747:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R5748:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R5766:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R5796:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6101:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6129:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6130:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6218:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6219:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6220:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6283:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6298:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6299:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6309:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6321:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6322:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6327:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6337:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6405:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6420:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6492:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6494:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R6505:Gm10549 UTSW 18 33,597,358 (GRCm39) unclassified probably benign
R7173:Gm10549 UTSW 18 33,597,462 (GRCm39) missense unknown
R7724:Gm10549 UTSW 18 33,603,912 (GRCm39) nonsense probably null
R7829:Gm10549 UTSW 18 33,597,463 (GRCm39) unclassified probably benign
R9356:Gm10549 UTSW 18 33,597,375 (GRCm39) missense unknown
R9358:Gm10549 UTSW 18 33,597,375 (GRCm39) missense unknown
R9584:Gm10549 UTSW 18 33,597,375 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TAATAATAAACCTGCGGCCGG -3'
(R):5'- GGGCTGAGAACTTTGAAAGC -3'

Sequencing Primer
(F):5'- CGGGGCATCTGAGGGAAC -3'
(R):5'- TCTAGGCTCTAGCGTCTCCGG -3'
Posted On 2022-04-18