Incidental Mutation 'R0081:Samd3'
ID44293
Institutional Source Beutler Lab
Gene Symbol Samd3
Ensembl Gene ENSMUSG00000051354
Gene Namesterile alpha motif domain containing 3
SynonymsLOC268288
MMRRC Submission 038368-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.206) question?
Stock #R0081 (G1)
Quality Score146
Status Validated
Chromosome10
Chromosomal Location26229707-26272172 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 26271501 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040219] [ENSMUST00000060716] [ENSMUST00000105519] [ENSMUST00000174766] [ENSMUST00000220219]
Predicted Effect probably benign
Transcript: ENSMUST00000040219
SMART Domains Protein: ENSMUSP00000037619
Gene: ENSMUSG00000039089

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 204 214 N/A INTRINSIC
MBT 232 332 3.75e-48 SMART
MBT 340 439 3.67e-42 SMART
MBT 448 543 7.5e-48 SMART
low complexity region 604 615 N/A INTRINSIC
low complexity region 662 770 N/A INTRINSIC
SAM 808 875 2.49e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000060716
SMART Domains Protein: ENSMUSP00000057805
Gene: ENSMUSG00000051354

DomainStartEndE-ValueType
SAM 1 66 3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105519
SMART Domains Protein: ENSMUSP00000101158
Gene: ENSMUSG00000039089

DomainStartEndE-ValueType
low complexity region 129 141 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
MBT 207 307 3.75e-48 SMART
MBT 315 414 3.67e-42 SMART
MBT 423 518 7.5e-48 SMART
low complexity region 579 590 N/A INTRINSIC
low complexity region 637 745 N/A INTRINSIC
SAM 783 850 2.49e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174766
SMART Domains Protein: ENSMUSP00000133479
Gene: ENSMUSG00000039089

DomainStartEndE-ValueType
low complexity region 154 166 N/A INTRINSIC
low complexity region 204 214 N/A INTRINSIC
MBT 232 332 3.75e-48 SMART
MBT 340 439 3.67e-42 SMART
MBT 448 543 7.5e-48 SMART
low complexity region 604 615 N/A INTRINSIC
low complexity region 662 770 N/A INTRINSIC
SAM 808 875 2.49e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218585
Predicted Effect probably benign
Transcript: ENSMUST00000219738
Predicted Effect probably benign
Transcript: ENSMUST00000220219
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 24,781,687 D485G probably damaging Het
Adamts19 T C 18: 58,903,065 probably null Het
Adgrd1 A T 5: 129,178,082 I598F probably damaging Het
Adh5 A G 3: 138,451,413 D245G probably benign Het
Adra2b T C 2: 127,364,292 V238A probably benign Het
Ank1 G A 8: 23,116,242 V1188I possibly damaging Het
Asap1 C T 15: 64,099,564 G905D probably damaging Het
AW554918 T C 18: 25,344,902 V428A probably benign Het
Birc6 T A 17: 74,643,441 S3226T probably benign Het
Cdh17 A T 4: 11,785,280 probably benign Het
Cyfip2 A T 11: 46,253,998 Y676* probably null Het
Dcaf17 T A 2: 71,078,468 probably benign Het
Dclre1a A G 19: 56,542,707 F736L probably damaging Het
Ddx41 A T 13: 55,535,380 H171Q possibly damaging Het
Dennd5b G T 6: 148,993,759 Q1258K probably benign Het
Dock10 T C 1: 80,606,578 D137G probably damaging Het
Dpyd G A 3: 118,944,255 V482I probably benign Het
Erich6 A T 3: 58,636,126 probably benign Het
Fam193b A G 13: 55,554,211 probably benign Het
Foxp2 T C 6: 15,405,644 probably benign Het
Frmd4a T C 2: 4,572,441 probably null Het
Gas2l2 A G 11: 83,422,867 S540P possibly damaging Het
Glis2 T C 16: 4,613,653 V348A probably benign Het
Gm14443 C A 2: 175,169,936 G239V probably damaging Het
Gpr158 T C 2: 21,826,717 V876A probably damaging Het
H1foo A G 6: 115,949,981 E273G probably benign Het
Hadh C T 3: 131,235,636 D245N probably damaging Het
Hk2 A T 6: 82,734,976 probably benign Het
Ice1 A T 13: 70,619,044 Y108* probably null Het
Il10ra T G 9: 45,255,949 M435L probably benign Het
Inpp5k GT G 11: 75,631,147 probably null Het
Kank4 G T 4: 98,778,330 P627T probably benign Het
Kif16b A G 2: 142,707,426 probably benign Het
Lipn A G 19: 34,076,976 I205V probably benign Het
Miox C T 15: 89,336,274 L189F possibly damaging Het
Myh1 T C 11: 67,215,857 M1255T probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1d T G 11: 80,557,523 K925N probably benign Het
Myoz1 T A 14: 20,649,554 M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,408,291 probably null Het
Nf1 C A 11: 79,453,979 probably benign Het
Npepl1 C T 2: 174,116,086 P239S probably damaging Het
Olfml1 A G 7: 107,571,299 K131R probably benign Het
Olfr1258 T A 2: 89,930,079 I90K possibly damaging Het
Olfr1303 A C 2: 111,813,868 I286S probably damaging Het
Olfr344 T A 2: 36,568,881 Y94* probably null Het
Olfr352 T C 2: 36,870,010 L148S possibly damaging Het
Olfr358 G A 2: 37,005,450 L55F probably damaging Het
Olfr389 A G 11: 73,777,109 F73L possibly damaging Het
Olfr472 C T 7: 107,903,005 T96I probably benign Het
Olfr771 C T 10: 129,160,838 D49N possibly damaging Het
Pde7a T C 3: 19,241,533 probably benign Het
Pik3c2g T C 6: 139,957,793 C591R probably benign Het
Pkn2 T G 3: 142,853,582 K61Q probably damaging Het
Ppfia1 C A 7: 144,504,974 G722C probably damaging Het
Ppp1cb T C 5: 32,487,614 V263A probably damaging Het
Rab11fip2 A T 19: 59,907,135 N440K possibly damaging Het
Rbm34 T A 8: 126,949,484 K340N probably damaging Het
Sfi1 TCGC TC 11: 3,146,254 probably null Het
Sigirr T C 7: 141,091,372 D399G probably damaging Het
Slc17a7 A G 7: 45,174,947 E554G probably benign Het
Smc3 A G 19: 53,601,562 probably benign Het
Tdrd1 T C 19: 56,831,271 Y68H probably benign Het
Tespa1 T A 10: 130,360,850 L219Q probably damaging Het
Tmem144 G A 3: 79,839,273 probably benign Het
Ttc38 A G 15: 85,856,472 S436G probably benign Het
Ttn T A 2: 76,751,079 I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 probably benign Het
Vmn1r28 G A 6: 58,265,717 A182T probably benign Het
Vmn2r72 T C 7: 85,751,836 E125G probably benign Het
Vmn2r78 A T 7: 86,923,027 D532V probably benign Het
Vwa8 C A 14: 79,082,782 L1078I probably benign Het
Vwce A T 19: 10,664,089 probably null Het
Zpr1 A G 9: 46,279,697 D300G probably damaging Het
Other mutations in Samd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Samd3 APN 10 26251846 missense probably damaging 1.00
IGL00754:Samd3 APN 10 26244527 missense probably benign 0.19
IGL01672:Samd3 APN 10 26270169 missense possibly damaging 0.94
IGL02211:Samd3 APN 10 26233557 missense probably damaging 1.00
IGL02397:Samd3 APN 10 26233576 missense possibly damaging 0.85
IGL02755:Samd3 APN 10 26244577 missense probably damaging 1.00
IGL02885:Samd3 APN 10 26271864 missense probably benign 0.43
IGL03115:Samd3 APN 10 26271708 missense probably damaging 1.00
IGL03157:Samd3 APN 10 26263842 missense probably benign 0.05
IGL03172:Samd3 APN 10 26230166 missense probably damaging 1.00
R0034:Samd3 UTSW 10 26271500 splice site probably benign
R0197:Samd3 UTSW 10 26271854 missense possibly damaging 0.77
R0566:Samd3 UTSW 10 26244498 missense possibly damaging 0.83
R0632:Samd3 UTSW 10 26244495 missense possibly damaging 0.86
R0782:Samd3 UTSW 10 26270240 missense probably damaging 0.97
R0834:Samd3 UTSW 10 26271827 missense probably benign 0.01
R1106:Samd3 UTSW 10 26271791 missense possibly damaging 0.57
R1844:Samd3 UTSW 10 26251774 missense probably damaging 1.00
R1907:Samd3 UTSW 10 26271856 nonsense probably null
R1929:Samd3 UTSW 10 26263986 splice site probably benign
R2925:Samd3 UTSW 10 26251887 missense probably benign 0.37
R5104:Samd3 UTSW 10 26263788 missense possibly damaging 0.61
R5736:Samd3 UTSW 10 26270172 missense probably damaging 1.00
R7120:Samd3 UTSW 10 26230966 missense possibly damaging 0.77
R7437:Samd3 UTSW 10 26270106 missense possibly damaging 0.78
R7510:Samd3 UTSW 10 26230108 missense probably benign
R7599:Samd3 UTSW 10 26263813 missense probably benign 0.00
R7801:Samd3 UTSW 10 26263872 missense possibly damaging 0.57
R7806:Samd3 UTSW 10 26244527 missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- TGTAGTTTTCCAAAGGCACCCCAC -3'
(R):5'- TTCTTGGACACTCGATCCCAAACAC -3'

Sequencing Primer
(F):5'- ACCCATCATTTTAAACCTTGGGC -3'
(R):5'- GAGGAAAGCTGTTACTACTGCTC -3'
Posted On2013-06-11