Incidental Mutation 'R4899:Samsn1'
ID 376044
Institutional Source Beutler Lab
Gene Symbol Samsn1
Ensembl Gene ENSMUSG00000022876
Gene Name SAM domain, SH3 domain and nuclear localization signals, 1
Synonyms 4930571B16Rik, Hacs1
MMRRC Submission 042503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4899 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 75655682-75706154 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75675991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 135 (S135P)
Ref Sequence ENSEMBL: ENSMUSP00000109877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114239] [ENSMUST00000114240]
AlphaFold P57725
PDB Structure Solution structure of the Sterile Alpha Motif (SAM) domain of mouse SAMSN1 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000114239
AA Change: S135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109877
Gene: ENSMUSG00000022876
AA Change: S135P

DomainStartEndE-ValueType
Pfam:SLY 17 164 4.7e-57 PFAM
SH3 166 223 8.78e-4 SMART
SAM 238 305 7.6e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114240
SMART Domains Protein: ENSMUSP00000109878
Gene: ENSMUSG00000022876

DomainStartEndE-ValueType
low complexity region 69 80 N/A INTRINSIC
Pfam:SLY 146 293 1.1e-55 PFAM
SH3 295 352 8.78e-4 SMART
SAM 367 434 7.6e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147447
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226794
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit enhanced adaptive immunity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 C G 3: 40,860,304 (GRCm39) probably null Het
Adra2c A T 5: 35,437,705 (GRCm39) Y159F probably damaging Het
Alkal2 T A 12: 30,934,972 (GRCm39) S64T probably benign Het
Apbb1ip T C 2: 22,713,361 (GRCm39) V72A unknown Het
Atp13a5 A G 16: 29,197,318 (GRCm39) L13P probably damaging Het
Azin2 G A 4: 128,828,446 (GRCm39) P254S probably benign Het
Bmpr1b T C 3: 141,546,444 (GRCm39) R481G probably damaging Het
Cacna2d4 G A 6: 119,245,157 (GRCm39) W288* probably null Het
Cass4 A G 2: 172,269,789 (GRCm39) T626A probably benign Het
Cep112 T A 11: 108,497,110 (GRCm39) D683E probably damaging Het
Cfap300 A T 9: 8,022,494 (GRCm39) S243T possibly damaging Het
Chat G T 14: 32,170,934 (GRCm39) S188R possibly damaging Het
Cit A G 5: 116,001,087 (GRCm39) Y162C possibly damaging Het
Clca3a1 T A 3: 144,443,722 (GRCm39) Y676F probably damaging Het
Clec2h A G 6: 128,652,787 (GRCm39) N185D probably benign Het
Cnbd2 G T 2: 156,181,141 (GRCm39) V192F probably benign Het
Col6a3 C A 1: 90,730,149 (GRCm39) G1112V probably damaging Het
Csta2 A T 16: 36,077,731 (GRCm39) Y96F possibly damaging Het
Cyp3a25 A G 5: 145,914,481 (GRCm39) F483S possibly damaging Het
Dscam T C 16: 96,485,018 (GRCm39) E1103G probably benign Het
Dync2h1 G A 9: 7,131,921 (GRCm39) Q1629* probably null Het
Enpp6 A G 8: 47,440,118 (GRCm39) Y38C probably damaging Het
Epg5 T A 18: 78,028,272 (GRCm39) L1271Q probably damaging Het
Fam47e G A 5: 92,722,528 (GRCm39) V75I probably benign Het
Fat3 T C 9: 15,881,095 (GRCm39) D3259G probably damaging Het
Fbxw28 T C 9: 109,159,921 (GRCm39) D211G probably damaging Het
Flnc A G 6: 29,446,842 (GRCm39) N990D probably benign Het
Frat1 T G 19: 41,818,761 (GRCm39) L52R probably damaging Het
Ftmt C G 18: 52,464,658 (GRCm39) probably benign Het
H2-M1 C T 17: 36,982,112 (GRCm39) G163D probably benign Het
Hapln1 A G 13: 89,749,769 (GRCm39) K105E possibly damaging Het
Igkv17-127 G T 6: 67,838,381 (GRCm39) A31S probably benign Het
Il6st T C 13: 112,637,695 (GRCm39) L628P probably damaging Het
Kcnj6 A G 16: 94,633,472 (GRCm39) I213T probably damaging Het
Kidins220 T C 12: 25,063,442 (GRCm39) probably null Het
Lama2 TTTGCGCATT TTT 10: 26,919,639 (GRCm39) probably null Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Mertk C A 2: 128,625,845 (GRCm39) P660Q probably damaging Het
Mrtfa A G 15: 80,902,587 (GRCm39) Y241H probably damaging Het
Mtarc2 A T 1: 184,577,821 (GRCm39) I65N probably damaging Het
Napepld A G 5: 21,888,438 (GRCm39) Y4H probably benign Het
Ncam1 T A 9: 49,456,551 (GRCm39) probably null Het
Nuak2 A T 1: 132,252,724 (GRCm39) K93* probably null Het
Oat A T 7: 132,165,951 (GRCm39) D211E probably benign Het
Or1j19 A G 2: 36,676,810 (GRCm39) Q91R probably benign Het
Or2aj6 G A 16: 19,442,950 (GRCm39) A300V probably benign Het
Or4c109 A C 2: 88,818,454 (GRCm39) L31V probably null Het
Or51b17 A G 7: 103,542,672 (GRCm39) I90T possibly damaging Het
Or7a39 A T 10: 78,715,041 (GRCm39) S12C probably benign Het
Pde4dip C A 3: 97,616,874 (GRCm39) K1789N probably damaging Het
Piezo2 T C 18: 63,211,862 (GRCm39) I1322V possibly damaging Het
Pih1d1 A G 7: 44,803,951 (GRCm39) probably benign Het
Plekhd1 T C 12: 80,769,101 (GRCm39) S454P probably damaging Het
Polr2h G A 16: 20,539,303 (GRCm39) V89M probably damaging Het
Pptc7 G A 5: 122,422,780 (GRCm39) G17S possibly damaging Het
Pramel55 T C 5: 95,949,586 (GRCm39) V111A probably benign Het
Ptpra T C 2: 130,386,356 (GRCm39) V602A probably damaging Het
Rnf123 C T 9: 107,940,879 (GRCm39) R654H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sgsm3 A G 15: 80,890,980 (GRCm39) N147S probably benign Het
Shoc1 T C 4: 59,062,640 (GRCm39) Y872C probably damaging Het
Slc22a29 T C 19: 8,138,933 (GRCm39) T510A probably benign Het
Smc4 T A 3: 68,939,144 (GRCm39) H978Q probably damaging Het
Sox7 G A 14: 64,185,927 (GRCm39) R321H probably damaging Het
Spred3 T C 7: 28,861,258 (GRCm39) D307G probably damaging Het
Syne2 T A 12: 75,900,875 (GRCm39) D11E probably benign Het
Tob1 ACAGCAGCAGCAGCAGCAGCAGCAGCA ACAGCAGCAGCAGCAGCAGCAGCA 11: 94,105,278 (GRCm39) probably benign Het
Top2b A T 14: 16,387,313 (GRCm38) I134F probably damaging Het
Tspan1 T A 4: 116,020,563 (GRCm39) R206* probably null Het
Ttc3 A T 16: 94,230,314 (GRCm39) N837I probably damaging Het
Vmn1r36 T C 6: 66,693,549 (GRCm39) T72A possibly damaging Het
Vmn2r10 A G 5: 109,151,324 (GRCm39) S97P probably damaging Het
Zfp2 T A 11: 50,790,841 (GRCm39) I401F probably damaging Het
Zfp629 T C 7: 127,210,190 (GRCm39) T540A possibly damaging Het
Zfr G A 15: 12,166,231 (GRCm39) V834I probably benign Het
Other mutations in Samsn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00904:Samsn1 APN 16 75,706,008 (GRCm39) splice site probably benign
IGL02220:Samsn1 APN 16 75,680,763 (GRCm39) critical splice donor site probably null
R0455:Samsn1 UTSW 16 75,742,113 (GRCm39) unclassified noncoding transcript
R1136:Samsn1 UTSW 16 75,670,408 (GRCm39) missense probably null 0.00
R1140:Samsn1 UTSW 16 75,685,630 (GRCm39) missense possibly damaging 0.73
R1180:Samsn1 UTSW 16 75,670,536 (GRCm39) missense probably damaging 1.00
R1772:Samsn1 UTSW 16 75,667,663 (GRCm39) missense probably benign 0.01
R1968:Samsn1 UTSW 16 75,742,461 (GRCm39) exon noncoding transcript
R4035:Samsn1 UTSW 16 75,706,073 (GRCm39) start codon destroyed probably null 0.99
R4372:Samsn1 UTSW 16 75,656,344 (GRCm39) missense possibly damaging 0.80
R4725:Samsn1 UTSW 16 75,742,217 (GRCm39) unclassified noncoding transcript
R4779:Samsn1 UTSW 16 75,744,177 (GRCm39) exon noncoding transcript
R4795:Samsn1 UTSW 16 75,680,733 (GRCm39) intron probably benign
R4905:Samsn1 UTSW 16 75,673,353 (GRCm39) missense possibly damaging 0.94
R5050:Samsn1 UTSW 16 75,685,645 (GRCm39) missense probably benign
R5789:Samsn1 UTSW 16 75,673,336 (GRCm39) missense probably damaging 1.00
R6005:Samsn1 UTSW 16 75,670,402 (GRCm39) missense probably benign 0.03
R6190:Samsn1 UTSW 16 75,667,803 (GRCm39) missense probably damaging 1.00
R6218:Samsn1 UTSW 16 75,742,162 (GRCm39) unclassified noncoding transcript
R6630:Samsn1 UTSW 16 75,676,092 (GRCm39) missense probably benign 0.00
R7086:Samsn1 UTSW 16 75,667,794 (GRCm39) missense probably benign 0.00
R8289:Samsn1 UTSW 16 75,685,684 (GRCm39) missense probably damaging 1.00
R9189:Samsn1 UTSW 16 75,656,449 (GRCm39) missense probably damaging 0.99
R9330:Samsn1 UTSW 16 75,673,433 (GRCm39) missense probably damaging 1.00
R9635:Samsn1 UTSW 16 75,673,457 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCCTGTAGGCTATAGCATCAG -3'
(R):5'- CTGTGGAAAACTGATCTGCACAC -3'

Sequencing Primer
(F):5'- GCTATAGCATCAGAAATATGTTGTGC -3'
(R):5'- GTGGAAAACTGATCTGCACACTTAAC -3'
Posted On 2016-03-17