Incidental Mutation 'R6081:Samd12'
ID482929
Institutional Source Beutler Lab
Gene Symbol Samd12
Ensembl Gene ENSMUSG00000058656
Gene Namesterile alpha motif domain containing 12
Synonyms
MMRRC Submission 044240-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.133) question?
Stock #R6081 (G1)
Quality Score225.009
Status Not validated
Chromosome15
Chromosomal Location53453810-53902537 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53719678 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 87 (K87E)
Ref Sequence ENSEMBL: ENSMUSP00000077741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078673] [ENSMUST00000132059]
Predicted Effect probably benign
Transcript: ENSMUST00000078673
AA Change: K87E

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000077741
Gene: ENSMUSG00000058656
AA Change: K87E

DomainStartEndE-ValueType
SAM 74 143 1e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000132059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154119
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,739,231 M33K probably damaging Het
4930556J24Rik T C 11: 3,938,140 Q82R unknown Het
Adcy9 T C 16: 4,294,681 D714G probably benign Het
Afg3l2 G T 18: 67,421,259 L458M probably damaging Het
Ahctf1 G T 1: 179,781,672 A639E probably benign Het
Ank3 G A 10: 70,002,565 R1566K possibly damaging Het
Anxa5 C T 3: 36,465,287 D18N probably damaging Het
Apc C T 18: 34,290,111 P299L possibly damaging Het
Btnl4 C A 17: 34,474,236 W68C probably damaging Het
Cmya5 T A 13: 93,144,513 probably benign Het
Cstf2t G T 19: 31,083,123 V20L probably benign Het
D630045J12Rik A T 6: 38,142,698 V1703E probably damaging Het
Dhx32 A G 7: 133,722,212 F535S probably damaging Het
Diras2 T C 13: 52,508,145 D42G probably damaging Het
Dppa3 T A 6: 122,629,972 D140E probably damaging Het
Gpr180 C T 14: 118,153,674 T205I probably benign Het
Gzme T G 14: 56,118,307 T183P possibly damaging Het
H2-T23 T A 17: 36,031,815 I144F possibly damaging Het
Hlx T C 1: 184,727,697 S415G probably benign Het
Krtap5-3 G A 7: 142,201,486 C20Y unknown Het
Mcm8 G T 2: 132,828,083 R359L probably benign Het
Mroh2b G C 15: 4,944,377 E1126Q probably damaging Het
Nav1 C T 1: 135,470,822 R674H probably damaging Het
Otx1 A T 11: 21,999,406 L24H probably damaging Het
Rnaset2b T A 17: 6,988,794 probably null Het
Sec16b T C 1: 157,560,754 S564P probably benign Het
Speer4a A T 5: 26,034,962 C263* probably null Het
Susd1 C A 4: 59,411,359 C158F possibly damaging Het
Vmn2r6 C T 3: 64,556,532 V294M probably benign Het
Other mutations in Samd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02024:Samd12 APN 15 53658466 missense probably damaging 1.00
R0398:Samd12 UTSW 15 53719720 missense possibly damaging 0.88
R0511:Samd12 UTSW 15 53860171 missense probably benign 0.05
R2991:Samd12 UTSW 15 53860196 missense probably damaging 0.98
R4420:Samd12 UTSW 15 53860259 missense probably damaging 1.00
R4632:Samd12 UTSW 15 53719671 missense possibly damaging 0.90
R5264:Samd12 UTSW 15 53860273 missense probably damaging 1.00
R5990:Samd12 UTSW 15 53719623 missense probably damaging 1.00
R6879:Samd12 UTSW 15 53658430 missense probably benign 0.01
R7198:Samd12 UTSW 15 53860253 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCTGTCTGGAATTTATTGCC -3'
(R):5'- GGCCATAAGAGCCATGTATTTC -3'

Sequencing Primer
(F):5'- TTTCAAAGCAAAGTTACACCAGG -3'
(R):5'- CTCTTCAGAGAATTCAGACTATGGTC -3'
Posted On2017-07-14