Incidental Mutation 'R0036:S100a16'
ID 64612
Institutional Source Beutler Lab
Gene Symbol S100a16
Ensembl Gene ENSMUSG00000074457
Gene Name S100 calcium binding protein A16
Synonyms 2300002L21Rik
MMRRC Submission 038330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R0036 (G1)
Quality Score 117
Status Validated
Chromosome 3
Chromosomal Location 90444561-90450458 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90449763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 82 (M82K)
Ref Sequence ENSEMBL: ENSMUSP00000102958 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098910] [ENSMUST00000098911] [ENSMUST00000107331] [ENSMUST00000107333] [ENSMUST00000107334] [ENSMUST00000107335] [ENSMUST00000150833]
AlphaFold Q9D708
Predicted Effect probably benign
Transcript: ENSMUST00000098910
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096509
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 52 3.7e-7 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098911
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000096510
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 52 3.7e-7 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107331
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102954
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 51 2.1e-12 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107333
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102956
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 52 3.7e-7 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107334
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102957
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 52 3.7e-7 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107335
AA Change: M82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000102958
Gene: ENSMUSG00000074457
AA Change: M82K

DomainStartEndE-ValueType
Pfam:S_100 8 52 3.7e-7 PFAM
low complexity region 96 124 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127008
Predicted Effect probably benign
Transcript: ENSMUST00000150833
SMART Domains Protein: ENSMUSP00000119168
Gene: ENSMUSG00000074457

DomainStartEndE-ValueType
Pfam:S_100 8 52 1.3e-7 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ctsq C T 13: 61,185,485 (GRCm39) probably null Het
Egln3 A T 12: 54,232,378 (GRCm39) D142E possibly damaging Het
Fam120a G A 13: 49,042,740 (GRCm39) probably benign Het
Hspg2 A G 4: 137,270,160 (GRCm39) T2373A probably damaging Het
Pcyox1l G T 18: 61,830,492 (GRCm39) T460K probably benign Het
Phrf1 T C 7: 140,841,693 (GRCm39) M1435T probably damaging Het
Rnf157 A G 11: 116,287,128 (GRCm39) Y32H probably damaging Het
Rnf224 C T 2: 25,126,143 (GRCm39) R70Q probably damaging Het
Rusc2 C A 4: 43,424,009 (GRCm39) D1054E probably damaging Het
Serpina3j A G 12: 104,283,606 (GRCm39) T235A probably benign Het
Sgo2a T C 1: 58,054,787 (GRCm39) S324P probably benign Het
Slf1 G T 13: 77,249,070 (GRCm39) Q373K probably benign Het
Son T A 16: 91,457,054 (GRCm39) probably benign Het
Tril C T 6: 53,795,618 (GRCm39) A535T probably benign Het
Vipr1 G A 9: 121,490,049 (GRCm39) D141N probably benign Het
Other mutations in S100a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1429:S100a16 UTSW 3 90,449,391 (GRCm39) missense probably damaging 1.00
R1921:S100a16 UTSW 3 90,449,703 (GRCm39) missense probably damaging 1.00
R4110:S100a16 UTSW 3 90,449,379 (GRCm39) missense probably damaging 0.99
R5829:S100a16 UTSW 3 90,449,454 (GRCm39) missense possibly damaging 0.83
R6109:S100a16 UTSW 3 90,449,381 (GRCm39) missense probably damaging 1.00
R6168:S100a16 UTSW 3 90,449,879 (GRCm39) nonsense probably null
R6495:S100a16 UTSW 3 90,449,735 (GRCm39) missense probably benign 0.00
R8295:S100a16 UTSW 3 90,449,336 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAGAGTTGAACCACATGCTGACG -3'
(R):5'- GAATGCTCAGGGAAGCACTACCAC -3'

Sequencing Primer
(F):5'- ATGCTGACGGTATCCCCAC -3'
(R):5'- TACCACAGTGGCCTTGATAGC -3'
Posted On 2013-08-06