Incidental Mutation 'R5234:Sgsm3'
ID 398247
Institutional Source Beutler Lab
Gene Symbol Sgsm3
Ensembl Gene ENSMUSG00000042303
Gene Name small G protein signaling modulator 3
Synonyms 1810012I01Rik, Rutbc3, CIP85
MMRRC Submission 042806-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R5234 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 80861966-80896491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 80892145 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 238 (S238C)
Ref Sequence ENSEMBL: ENSMUSP00000122543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109579] [ENSMUST00000131235] [ENSMUST00000134469] [ENSMUST00000139517] [ENSMUST00000137004] [ENSMUST00000137255] [ENSMUST00000143147] [ENSMUST00000149582] [ENSMUST00000229727] [ENSMUST00000228971]
AlphaFold Q8VCZ6
PDB Structure Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000042506
AA Change: S248C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000043311
Gene: ENSMUSG00000103565
AA Change: S248C

DomainStartEndE-ValueType
TBC 121 338 3.6e-62 SMART
low complexity region 391 401 N/A INTRINSIC
SH3 493 548 6.34e-19 SMART
RUN 664 726 1.29e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109579
SMART Domains Protein: ENSMUSP00000105207
Gene: ENSMUSG00000042292

DomainStartEndE-ValueType
RPEL 15 40 2.17e-7 SMART
RPEL 59 84 1.36e-8 SMART
RPEL 103 128 1.03e-8 SMART
low complexity region 146 159 N/A INTRINSIC
low complexity region 209 228 N/A INTRINSIC
low complexity region 259 272 N/A INTRINSIC
low complexity region 298 320 N/A INTRINSIC
low complexity region 340 365 N/A INTRINSIC
SAP 385 419 4.98e-10 SMART
low complexity region 424 433 N/A INTRINSIC
low complexity region 483 496 N/A INTRINSIC
coiled coil region 558 600 N/A INTRINSIC
low complexity region 670 679 N/A INTRINSIC
low complexity region 714 735 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000124845
AA Change: S165C
Predicted Effect probably benign
Transcript: ENSMUST00000131235
SMART Domains Protein: ENSMUSP00000120116
Gene: ENSMUSG00000042292

DomainStartEndE-ValueType
RPEL 24 49 1.36e-8 SMART
RPEL 68 93 1.03e-8 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 174 187 N/A INTRINSIC
low complexity region 213 235 N/A INTRINSIC
low complexity region 255 280 N/A INTRINSIC
SAP 300 334 4.98e-10 SMART
low complexity region 339 348 N/A INTRINSIC
low complexity region 398 411 N/A INTRINSIC
coiled coil region 473 515 N/A INTRINSIC
low complexity region 585 594 N/A INTRINSIC
low complexity region 629 650 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132039
Predicted Effect probably benign
Transcript: ENSMUST00000134469
SMART Domains Protein: ENSMUSP00000119530
Gene: ENSMUSG00000042292

DomainStartEndE-ValueType
RPEL 24 49 1.36e-8 SMART
RPEL 68 93 1.03e-8 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 263 285 N/A INTRINSIC
low complexity region 305 330 N/A INTRINSIC
SAP 350 384 4.98e-10 SMART
low complexity region 389 398 N/A INTRINSIC
low complexity region 448 461 N/A INTRINSIC
coiled coil region 523 565 N/A INTRINSIC
low complexity region 635 644 N/A INTRINSIC
low complexity region 679 700 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138550
Predicted Effect probably damaging
Transcript: ENSMUST00000139517
AA Change: S238C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: S238C

DomainStartEndE-ValueType
TBC 111 328 3.6e-62 SMART
low complexity region 381 391 N/A INTRINSIC
SH3 483 538 6.34e-19 SMART
RUN 654 716 1.29e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134511
Predicted Effect probably benign
Transcript: ENSMUST00000137004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156064
Predicted Effect probably benign
Transcript: ENSMUST00000137255
Predicted Effect probably benign
Transcript: ENSMUST00000143147
Predicted Effect probably benign
Transcript: ENSMUST00000154904
SMART Domains Protein: ENSMUSP00000118050
Gene: ENSMUSG00000042303

DomainStartEndE-ValueType
low complexity region 23 36 N/A INTRINSIC
SH3 114 169 6.34e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149582
SMART Domains Protein: ENSMUSP00000117745
Gene: ENSMUSG00000042292

DomainStartEndE-ValueType
RPEL 24 49 1.36e-8 SMART
RPEL 68 93 1.03e-8 SMART
low complexity region 111 124 N/A INTRINSIC
low complexity region 174 193 N/A INTRINSIC
low complexity region 224 237 N/A INTRINSIC
low complexity region 263 285 N/A INTRINSIC
low complexity region 305 330 N/A INTRINSIC
SAP 350 384 4.98e-10 SMART
low complexity region 389 398 N/A INTRINSIC
low complexity region 448 461 N/A INTRINSIC
coiled coil region 523 565 N/A INTRINSIC
low complexity region 635 644 N/A INTRINSIC
low complexity region 679 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000229727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230118
Predicted Effect probably benign
Transcript: ENSMUST00000228971
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G A 1: 71,302,823 (GRCm39) T2132M probably damaging Het
Abca8b A T 11: 109,867,420 (GRCm39) F213I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Adamts6 A G 13: 104,630,130 (GRCm39) Y1091C probably damaging Het
Adamtsl4 T C 3: 95,588,230 (GRCm39) M586V probably benign Het
Anapc4 T C 5: 53,006,118 (GRCm39) S336P probably damaging Het
Atp1a4 A T 1: 172,054,737 (GRCm39) I964K possibly damaging Het
Bcan A T 3: 87,903,453 (GRCm39) D246E probably damaging Het
Ccnf G A 17: 24,453,411 (GRCm39) R343* probably null Het
Col6a5 T C 9: 105,741,404 (GRCm39) H2505R probably damaging Het
Dlg5 T A 14: 24,242,930 (GRCm39) M72L probably damaging Het
Dnajc18 T C 18: 35,816,351 (GRCm39) T196A probably benign Het
Dnajc19 T A 3: 34,112,108 (GRCm39) I146F probably benign Het
Espnl A G 1: 91,272,515 (GRCm39) D581G probably benign Het
Fam167a T C 14: 63,689,787 (GRCm39) L28P probably damaging Het
Fra10ac1 T C 19: 38,204,294 (GRCm39) D94G probably damaging Het
Fut8 A G 12: 77,379,004 (GRCm39) H35R probably benign Het
Gad1-ps T A 10: 99,281,188 (GRCm39) noncoding transcript Het
Garin2 T A 12: 78,762,045 (GRCm39) Y236* probably null Het
Idh2 A T 7: 79,745,853 (GRCm39) V333E probably damaging Het
Inpp5f A G 7: 128,265,407 (GRCm39) I121V probably benign Het
Itga1 A T 13: 115,185,839 (GRCm39) Y54* probably null Het
Lax1 A G 1: 133,608,321 (GRCm39) V140A probably benign Het
Ncoa6 A G 2: 155,279,933 (GRCm39) F28L probably benign Het
Or12e10 T C 2: 87,641,112 (GRCm39) V316A probably benign Het
Or1q1 T C 2: 36,887,107 (GRCm39) V95A probably benign Het
Polr2a T C 11: 69,627,666 (GRCm39) I1414V probably benign Het
Ppp1r14b A G 19: 6,954,227 (GRCm39) E115G possibly damaging Het
Prune2 A G 19: 17,096,032 (GRCm39) D512G probably damaging Het
Psmd11 A G 11: 80,319,566 (GRCm39) I19V probably benign Het
Pthlh C A 6: 147,158,592 (GRCm39) G123W probably damaging Het
Qars1 T A 9: 108,391,364 (GRCm39) L572Q probably damaging Het
Rubcn T C 16: 32,656,828 (GRCm39) I516V probably damaging Het
Slc25a22 C A 7: 141,014,116 (GRCm39) probably benign Het
Slc4a1 G A 11: 102,252,209 (GRCm39) R5W probably benign Het
Tie1 G A 4: 118,339,959 (GRCm39) T356I probably benign Het
Tnn A T 1: 159,972,569 (GRCm39) H344Q possibly damaging Het
Tnrc6c G T 11: 117,651,555 (GRCm39) V1693F probably benign Het
Topaz1 C T 9: 122,619,258 (GRCm39) T1285M possibly damaging Het
Trank1 A T 9: 111,215,535 (GRCm39) S1822C probably damaging Het
Ttll11 A C 2: 35,830,745 (GRCm39) Y209D probably damaging Het
Unc45a C G 7: 79,978,547 (GRCm39) A634P probably benign Het
Vmn2r4 C T 3: 64,305,878 (GRCm39) V515I possibly damaging Het
Other mutations in Sgsm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Sgsm3 APN 15 80,895,053 (GRCm39) unclassified probably benign
IGL03370:Sgsm3 APN 15 80,895,855 (GRCm39) critical splice acceptor site probably null
R0109:Sgsm3 UTSW 15 80,893,667 (GRCm39) missense probably damaging 0.99
R0267:Sgsm3 UTSW 15 80,890,803 (GRCm39) missense probably damaging 0.96
R0382:Sgsm3 UTSW 15 80,892,515 (GRCm39) nonsense probably null
R0441:Sgsm3 UTSW 15 80,893,971 (GRCm39) missense possibly damaging 0.87
R0631:Sgsm3 UTSW 15 80,895,937 (GRCm39) makesense probably null
R0905:Sgsm3 UTSW 15 80,895,546 (GRCm39) missense probably damaging 1.00
R1364:Sgsm3 UTSW 15 80,892,143 (GRCm39) missense probably damaging 0.98
R1515:Sgsm3 UTSW 15 80,894,457 (GRCm39) missense probably benign 0.08
R2226:Sgsm3 UTSW 15 80,888,069 (GRCm39) missense probably damaging 0.96
R2227:Sgsm3 UTSW 15 80,888,069 (GRCm39) missense probably damaging 0.96
R2414:Sgsm3 UTSW 15 80,890,946 (GRCm39) missense probably benign 0.10
R2508:Sgsm3 UTSW 15 80,888,073 (GRCm39) critical splice donor site probably null
R4240:Sgsm3 UTSW 15 80,895,983 (GRCm39) unclassified probably benign
R4302:Sgsm3 UTSW 15 80,894,502 (GRCm39) unclassified probably benign
R4899:Sgsm3 UTSW 15 80,890,980 (GRCm39) missense probably benign 0.13
R5288:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5385:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5386:Sgsm3 UTSW 15 80,892,200 (GRCm39) missense probably benign 0.00
R5682:Sgsm3 UTSW 15 80,895,661 (GRCm39) critical splice acceptor site probably null
R6052:Sgsm3 UTSW 15 80,893,464 (GRCm39) missense probably benign
R6349:Sgsm3 UTSW 15 80,892,547 (GRCm39) missense probably benign 0.00
R6453:Sgsm3 UTSW 15 80,895,515 (GRCm39) missense probably damaging 0.96
R6486:Sgsm3 UTSW 15 80,895,546 (GRCm39) missense probably damaging 1.00
R6591:Sgsm3 UTSW 15 80,893,063 (GRCm39) missense possibly damaging 0.94
R6642:Sgsm3 UTSW 15 80,893,901 (GRCm39) missense probably damaging 0.99
R6691:Sgsm3 UTSW 15 80,893,063 (GRCm39) missense possibly damaging 0.94
R6897:Sgsm3 UTSW 15 80,893,095 (GRCm39) missense probably benign 0.00
R7038:Sgsm3 UTSW 15 80,892,576 (GRCm39) missense possibly damaging 0.86
R7390:Sgsm3 UTSW 15 80,893,021 (GRCm39) missense possibly damaging 0.77
R7572:Sgsm3 UTSW 15 80,891,667 (GRCm39) missense possibly damaging 0.78
R7730:Sgsm3 UTSW 15 80,892,927 (GRCm39) missense probably damaging 1.00
R7851:Sgsm3 UTSW 15 80,894,954 (GRCm39) missense probably damaging 1.00
R8186:Sgsm3 UTSW 15 80,893,643 (GRCm39) missense possibly damaging 0.90
R8902:Sgsm3 UTSW 15 80,890,796 (GRCm39) missense probably damaging 1.00
R8949:Sgsm3 UTSW 15 80,894,612 (GRCm39) missense probably damaging 1.00
R9025:Sgsm3 UTSW 15 80,892,182 (GRCm39) missense probably damaging 1.00
R9664:Sgsm3 UTSW 15 80,890,935 (GRCm39) missense probably benign 0.00
R9774:Sgsm3 UTSW 15 80,890,673 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- TCAACCAGCCTGAAGAGGTG -3'
(R):5'- GCAACGTAAGCCACATGAGC -3'

Sequencing Primer
(F):5'- AAGAGGTGTGCCGAGTATCTATCC -3'
(R):5'- CTCGAAACCTTGGAGCTCAGAG -3'
Posted On 2016-07-06