Incidental Mutation 'R9327:S100a13'
ID 706560
Institutional Source Beutler Lab
Gene Symbol S100a13
Ensembl Gene ENSMUSG00000042312
Gene Name S100 calcium binding protein A13
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R9327 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90421742-90431888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90423170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 54 (D54Y)
Ref Sequence ENSEMBL: ENSMUSP00000047737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048138] [ENSMUST00000060738] [ENSMUST00000107340]
AlphaFold P97352
Predicted Effect unknown
Transcript: ENSMUST00000048138
AA Change: D54Y
SMART Domains Protein: ENSMUSP00000047737
Gene: ENSMUSG00000042312
AA Change: D54Y

DomainStartEndE-ValueType
Pfam:S_100 71 113 4.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060738
SMART Domains Protein: ENSMUSP00000058237
Gene: ENSMUSG00000044080

DomainStartEndE-ValueType
Pfam:S_100 5 47 5.8e-23 PFAM
Pfam:EF-hand_1 54 82 1.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107340
SMART Domains Protein: ENSMUSP00000102963
Gene: ENSMUSG00000044080

DomainStartEndE-ValueType
Pfam:S_100 5 48 1.5e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (57/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein is widely expressed in various types of tissues with a high expression level in thyroid gland. In smooth muscle cells, this protein co-expresses with other family members in the nucleus and in stress fibers, suggesting diverse functions in signal transduction. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T A 19: 31,895,499 (GRCm39) M194K probably benign Het
Abcg1 T C 17: 31,333,122 (GRCm39) S622P probably benign Het
Ahnak2 A T 12: 112,748,446 (GRCm39) V467E Het
Amdhd2 T C 17: 24,377,421 (GRCm39) E164G probably benign Het
Ank3 G A 10: 69,812,086 (GRCm39) probably null Het
Bank1 A T 3: 135,799,308 (GRCm39) N545K probably benign Het
C9orf72 A G 4: 35,205,883 (GRCm39) I247T Het
Cep63 T C 9: 102,467,723 (GRCm39) I548V probably benign Het
Col28a1 T C 6: 8,175,653 (GRCm39) D65G unknown Het
Cspg4b C A 13: 113,453,710 (GRCm39) Q58K Het
Cyp2c50 A G 19: 40,079,010 (GRCm39) N118D probably benign Het
Dock10 C T 1: 80,510,184 (GRCm39) C1549Y probably damaging Het
Epg5 A G 18: 77,991,435 (GRCm39) E44G probably benign Het
Ephb4 T C 5: 137,361,529 (GRCm39) S520P probably damaging Het
Eppk1 T C 15: 75,993,755 (GRCm39) E1042G probably benign Het
Fmod A T 1: 133,968,589 (GRCm39) N210Y probably damaging Het
Fpr3 A G 17: 18,191,713 (GRCm39) D328G probably damaging Het
Garem2 T G 5: 30,321,989 (GRCm39) C783G probably benign Het
Gm10542 A G 18: 44,337,689 (GRCm39) N56D probably damaging Het
Gm20939 T A 17: 95,184,424 (GRCm39) N357K probably benign Het
Hr A G 14: 70,805,228 (GRCm39) H990R possibly damaging Het
Il21r A G 7: 125,226,163 (GRCm39) N53S unknown Het
Insrr C T 3: 87,721,604 (GRCm39) T1170I probably damaging Het
Itga11 A G 9: 62,638,034 (GRCm39) M103V probably damaging Het
Izumo3 G T 4: 92,035,050 (GRCm39) Q56K probably damaging Het
Kcnh8 T C 17: 53,146,084 (GRCm39) V324A probably damaging Het
Kcnj2 T A 11: 110,963,719 (GRCm39) N370K probably benign Het
Klf16 G T 10: 80,412,688 (GRCm39) S116* probably null Het
Mettl16 T C 11: 74,696,089 (GRCm39) V310A probably benign Het
Misp3 G T 8: 84,737,080 (GRCm39) Q105K unknown Het
Mmrn2 G A 14: 34,097,473 (GRCm39) probably benign Het
Mtcl1 A G 17: 66,645,130 (GRCm39) L1888P probably damaging Het
Muc5ac A C 7: 141,365,429 (GRCm39) T1984P possibly damaging Het
Myo16 G T 8: 10,489,705 (GRCm39) probably null Het
Nckipsd T C 9: 108,691,699 (GRCm39) I466T possibly damaging Het
Nos1 G C 5: 118,017,402 (GRCm39) R255P probably benign Het
Npffr2 A G 5: 89,730,661 (GRCm39) H197R probably benign Het
Nrap T A 19: 56,340,100 (GRCm39) M842L probably benign Het
Nxpe4 G A 9: 48,309,984 (GRCm39) A416T probably benign Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Or51t4 T C 7: 102,597,687 (GRCm39) V5A probably benign Het
Or52n20 A G 7: 104,320,742 (GRCm39) I278V probably damaging Het
Or5p53 T A 7: 107,533,019 (GRCm39) C97* probably null Het
Ppp1r15a C T 7: 45,174,035 (GRCm39) A258T possibly damaging Het
Prss36 A T 7: 127,532,570 (GRCm39) Y760* probably null Het
Psg26 T A 7: 18,216,480 (GRCm39) T120S probably damaging Het
Ptk7 A T 17: 46,878,977 (GRCm39) L908Q probably benign Het
Slc25a44 A T 3: 88,328,025 (GRCm39) H155Q probably benign Het
Smarcc2 A G 10: 128,321,486 (GRCm39) T894A probably damaging Het
Tle4 A G 19: 14,574,149 (GRCm39) F39L probably damaging Het
Tmem181a G A 17: 6,346,048 (GRCm39) V181M possibly damaging Het
Tmt1b A G 10: 128,794,607 (GRCm39) M239T probably benign Het
Trpm3 T C 19: 22,896,004 (GRCm39) V947A possibly damaging Het
Txndc16 G A 14: 45,379,448 (GRCm39) T663I probably benign Het
Vmn2r45 T C 7: 8,474,532 (GRCm39) Y832C probably damaging Het
Vmn2r9 T C 5: 108,996,841 (GRCm39) T143A probably damaging Het
Vps26b T C 9: 26,930,750 (GRCm39) N82D probably benign Het
Zfp318 T G 17: 46,721,892 (GRCm39) F1298L probably damaging Het
Other mutations in S100a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0358:S100a13 UTSW 3 90,423,299 (GRCm39) missense probably damaging 0.96
R9266:S100a13 UTSW 3 90,423,170 (GRCm39) missense unknown
R9269:S100a13 UTSW 3 90,423,170 (GRCm39) missense unknown
R9326:S100a13 UTSW 3 90,423,170 (GRCm39) missense unknown
Z1088:S100a13 UTSW 3 90,423,249 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCATGGAAGGATCACTACAG -3'
(R):5'- AGAGCCCTCTACCAACCTTG -3'

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