Incidental Mutation 'R6579:Scgn'
ID 523946
Institutional Source Beutler Lab
Gene Symbol Scgn
Ensembl Gene ENSMUSG00000021337
Gene Name secretagogin, EF-hand calcium binding protein
Synonyms
MMRRC Submission 044703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # R6579 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 24137439-24175197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24143717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 216 (A216T)
Ref Sequence ENSEMBL: ENSMUSP00000021770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021770] [ENSMUST00000142826]
AlphaFold Q91WD9
Predicted Effect probably damaging
Transcript: ENSMUST00000021770
AA Change: A216T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021770
Gene: ENSMUSG00000021337
AA Change: A216T

DomainStartEndE-ValueType
EFh 16 44 3.97e1 SMART
Blast:EFh 62 90 6e-6 BLAST
EFh 109 137 8.63e-6 SMART
EFh 153 181 1.74e-1 SMART
EFh 201 229 4.28e0 SMART
EFh 244 273 7.79e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000142826
AA Change: A59T

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226031
Meta Mutation Damage Score 0.1096 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,161,507 (GRCm39) V80D possibly damaging Het
6330409D20Rik T C 2: 32,630,663 (GRCm39) probably benign Het
Adam15 C T 3: 89,252,936 (GRCm39) V261M probably damaging Het
Adam29 G T 8: 56,325,779 (GRCm39) T225K probably damaging Het
Ankrd52 A G 10: 128,223,011 (GRCm39) T654A probably damaging Het
AU021092 T A 16: 5,040,020 (GRCm39) I35F probably damaging Het
Cdk20 G T 13: 64,584,348 (GRCm39) Q114H probably benign Het
Col22a1 A C 15: 71,753,502 (GRCm39) S133A probably benign Het
Cyp3a44 A T 5: 145,727,516 (GRCm39) F271Y probably damaging Het
Dchs1 A T 7: 105,412,120 (GRCm39) V1332E probably benign Het
Dhrs7l A T 12: 72,668,658 (GRCm39) D117E probably benign Het
Dnai7 A T 6: 145,124,744 (GRCm39) M527K probably benign Het
Dnajc5 A G 2: 181,189,209 (GRCm39) N62D possibly damaging Het
Gm3045 C T 13: 56,578,103 (GRCm39) S180L probably damaging Het
Hycc1 A T 5: 24,171,381 (GRCm39) V347D possibly damaging Het
Igkv14-130 T A 6: 67,768,421 (GRCm39) Y93* probably null Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nell2 A T 15: 95,282,957 (GRCm39) Y362N possibly damaging Het
Or5an1c C T 19: 12,218,726 (GRCm39) V100I probably benign Het
Peli1 A T 11: 21,097,059 (GRCm39) T150S probably benign Het
Pkhd1 T C 1: 20,271,047 (GRCm39) T3169A probably benign Het
Polr2m T A 9: 71,393,002 (GRCm39) E26V probably damaging Het
Rhbdf2 A G 11: 116,495,289 (GRCm39) V238A probably benign Het
Rims1 G T 1: 22,496,166 (GRCm39) P820H probably damaging Het
Rnf213 A G 11: 119,327,106 (GRCm39) T1698A probably damaging Het
Serpina11 T A 12: 103,951,007 (GRCm39) D238V probably damaging Het
Setd2 A T 9: 110,378,846 (GRCm39) E887V possibly damaging Het
Tiam2 CGGG CGGGG 17: 3,464,897 (GRCm39) probably null Het
Trak1 C A 9: 121,272,704 (GRCm39) N197K probably benign Het
Trpm2 C T 10: 77,773,660 (GRCm39) R585Q probably benign Het
Uchl5 T A 1: 143,674,130 (GRCm39) Y211N probably damaging Het
Usf3 T A 16: 44,039,197 (GRCm39) S1226T possibly damaging Het
Utrn T C 10: 12,623,750 (GRCm39) T163A probably benign Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Zcchc14 T C 8: 122,331,206 (GRCm39) probably benign Het
Other mutations in Scgn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01553:Scgn APN 13 24,143,662 (GRCm39) missense probably benign
IGL02109:Scgn APN 13 24,137,948 (GRCm39) missense possibly damaging 0.80
R0865:Scgn UTSW 13 24,146,102 (GRCm39) splice site probably null
R1761:Scgn UTSW 13 24,143,689 (GRCm39) missense probably damaging 1.00
R1916:Scgn UTSW 13 24,162,808 (GRCm39) missense probably damaging 1.00
R2026:Scgn UTSW 13 24,175,047 (GRCm39) start gained probably benign
R4940:Scgn UTSW 13 24,173,807 (GRCm39) missense probably benign
R5008:Scgn UTSW 13 24,174,958 (GRCm39) missense probably damaging 0.97
R7191:Scgn UTSW 13 24,165,476 (GRCm39) missense probably benign 0.00
R7455:Scgn UTSW 13 24,150,848 (GRCm39) missense probably benign 0.06
R7571:Scgn UTSW 13 24,137,897 (GRCm39) missense probably damaging 1.00
R9341:Scgn UTSW 13 24,173,829 (GRCm39) critical splice acceptor site probably null
R9343:Scgn UTSW 13 24,173,829 (GRCm39) critical splice acceptor site probably null
R9473:Scgn UTSW 13 24,143,731 (GRCm39) critical splice acceptor site probably null
R9559:Scgn UTSW 13 24,137,921 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAATGCCTCCAGACCTTTC -3'
(R):5'- TGCAGAGCAGTGCTGATTTG -3'

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