Incidental Mutation 'IGL01108:Samd10'
ID 50532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Samd10
Ensembl Gene ENSMUSG00000038605
Gene Name sterile alpha motif domain containing 10
Synonyms D930033N23Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL01108
Quality Score
Status
Chromosome 2
Chromosomal Location 181237011-181241005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 181239007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 135 (Y135H)
Ref Sequence ENSEMBL: ENSMUSP00000060499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000060173] [ENSMUST00000108789] [ENSMUST00000132714] [ENSMUST00000136481] [ENSMUST00000183836] [ENSMUST00000153998]
AlphaFold Q7TST3
Predicted Effect probably benign
Transcript: ENSMUST00000002529
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 2.5e-52 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000060173
AA Change: Y135H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060499
Gene: ENSMUSG00000038605
AA Change: Y135H

DomainStartEndE-ValueType
SAM 115 184 1.61e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108789
SMART Domains Protein: ENSMUSP00000104417
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
ZnF_C2H2 106 128 5.83e1 SMART
ZnF_C2H2 141 164 3.89e-3 SMART
internal_repeat_1 168 224 4.38e-14 PROSPERO
internal_repeat_1 246 302 4.38e-14 PROSPERO
ZnF_C2H2 487 511 5.68e1 SMART
ZnF_C2H2 517 540 2.91e-2 SMART
low complexity region 547 560 N/A INTRINSIC
ZnF_C2H2 571 593 1.59e1 SMART
ZnF_C2H2 607 630 4.4e-2 SMART
Blast:ZnF_C2H2 727 756 8e-11 BLAST
ZnF_C2H2 761 784 1.45e-2 SMART
low complexity region 808 832 N/A INTRINSIC
low complexity region 838 856 N/A INTRINSIC
low complexity region 858 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133598
SMART Domains Protein: ENSMUSP00000114378
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136249
Predicted Effect probably benign
Transcript: ENSMUST00000136481
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 1.3e-62 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139955
Predicted Effect probably benign
Transcript: ENSMUST00000183836
Predicted Effect probably benign
Transcript: ENSMUST00000153998
SMART Domains Protein: ENSMUSP00000123096
Gene: ENSMUSG00000000823

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah2 A G 19: 31,986,081 (GRCm39) probably benign Het
Baz1a A G 12: 54,963,516 (GRCm39) I856T probably benign Het
Cblb T A 16: 51,867,814 (GRCm39) probably null Het
Cpq A G 15: 33,497,433 (GRCm39) Q391R probably benign Het
Dnah9 T A 11: 65,740,806 (GRCm39) T4127S possibly damaging Het
Dync2h1 A G 9: 7,176,771 (GRCm39) S63P possibly damaging Het
Ercc3 T C 18: 32,397,638 (GRCm39) V623A probably damaging Het
Fbxw9 A G 8: 85,792,606 (GRCm39) probably benign Het
Gorasp2 T A 2: 70,508,922 (GRCm39) S133R probably damaging Het
Gtf2h1 G A 7: 46,461,922 (GRCm39) A307T probably damaging Het
Hk1 T C 10: 62,132,487 (GRCm39) K186R probably benign Het
Itga11 A G 9: 62,664,903 (GRCm39) E596G probably benign Het
Kcnj13 T C 1: 87,314,659 (GRCm39) I188V probably benign Het
Klhl18 A T 9: 110,257,754 (GRCm39) M492K probably damaging Het
Mctp2 T C 7: 71,835,563 (GRCm39) T545A probably damaging Het
Mgrn1 G T 16: 4,734,019 (GRCm39) probably null Het
Mideas T C 12: 84,220,465 (GRCm39) E163G probably damaging Het
Olfm4 T C 14: 80,259,339 (GRCm39) V529A probably benign Het
Or13f5 C T 4: 52,825,727 (GRCm39) T110I probably damaging Het
Parp4 T G 14: 56,844,897 (GRCm39) I596S probably benign Het
Plppr3 T A 10: 79,703,355 (GRCm39) D43V probably damaging Het
Prss51 A T 14: 64,333,433 (GRCm39) K14I probably damaging Het
Prss58 A G 6: 40,874,278 (GRCm39) C133R probably damaging Het
Recql5 A T 11: 115,788,007 (GRCm39) N437K probably benign Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Serpina7 C T X: 137,983,886 (GRCm39) V58I probably benign Het
Slf1 A T 13: 77,273,594 (GRCm39) probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Urb1 C T 16: 90,589,702 (GRCm39) A360T probably damaging Het
Ush2a G T 1: 188,595,022 (GRCm39) R3818L probably benign Het
Vmn2r57 C T 7: 41,077,008 (GRCm39) R386K probably benign Het
Wnt3a T C 11: 59,147,135 (GRCm39) N184D probably benign Het
Xpc G A 6: 91,469,987 (GRCm39) R746W probably damaging Het
Other mutations in Samd10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R8312:Samd10 UTSW 2 181,238,668 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21