Incidental Mutation 'R6349:Sgsm3'
ID 512468
Institutional Source Beutler Lab
Gene Symbol Sgsm3
Ensembl Gene ENSMUSG00000042303
Gene Name small G protein signaling modulator 3
Synonyms 1810012I01Rik, Rutbc3, CIP85
MMRRC Submission 044503-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R6349 (G1)
Quality Score 193.009
Status Not validated
Chromosome 15
Chromosomal Location 80861966-80896491 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80892547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 291 (I291T)
Ref Sequence ENSEMBL: ENSMUSP00000122543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109579] [ENSMUST00000131235] [ENSMUST00000134469] [ENSMUST00000139517] [ENSMUST00000143147] [ENSMUST00000137004] [ENSMUST00000228971] [ENSMUST00000149582] [ENSMUST00000137255] [ENSMUST00000229727]
AlphaFold Q8VCZ6
PDB Structure Solution structure of the SH3 domain of mouse RUN and TBC1 domain containing 3 [SOLUTION NMR]
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: I218T
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: ENSMUST00000134511
Predicted Effect probably benign
Transcript: ENSMUST00000139517
AA Change: I291T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000122543
Gene: ENSMUSG00000042303
AA Change: I291T

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: ENSMUST00000156783
Predicted Effect probably benign
Transcript: ENSMUST00000143147
Predicted Effect probably benign
Transcript: ENSMUST00000137004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156064
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: ENSMUST00000228971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134559
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: ENSMUST00000137255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138550
Predicted Effect probably benign
Transcript: ENSMUST00000229727
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230118
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012A03Rik A G 6: 32,028,595 (GRCm39) Y9C probably benign Het
4930433I11Rik A C 7: 40,644,196 (GRCm39) M622L possibly damaging Het
Abca8b C T 11: 109,825,544 (GRCm39) probably null Het
Adam28 T C 14: 68,870,621 (GRCm39) I351V probably benign Het
Adgrd1 A C 5: 129,219,603 (GRCm39) probably null Het
Ank3 T A 10: 69,815,269 (GRCm39) I473N probably damaging Het
Ankrd6 A T 4: 32,822,231 (GRCm39) H179Q probably damaging Het
Ano6 A G 15: 95,863,903 (GRCm39) R808G probably damaging Het
Anxa8 A T 14: 33,819,850 (GRCm39) I280F probably damaging Het
Asb2 C T 12: 103,312,118 (GRCm39) M1I probably null Het
Astn1 C T 1: 158,491,691 (GRCm39) Q1023* probably null Het
Cast T A 13: 74,869,314 (GRCm39) E542D probably damaging Het
Ccdc162 C T 10: 41,570,396 (GRCm39) E30K probably damaging Het
Ccdc87 T C 19: 4,891,347 (GRCm39) V613A probably damaging Het
Cdk13 T C 13: 17,926,304 (GRCm39) N832S probably damaging Het
Celsr1 T A 15: 85,915,885 (GRCm39) N696I probably damaging Het
Chd3 T C 11: 69,254,857 (GRCm39) E161G possibly damaging Het
Cxcr4 C A 1: 128,517,014 (GRCm39) V216F possibly damaging Het
Cyp4a10 A G 4: 115,382,555 (GRCm39) I282V probably benign Het
Deaf1 T C 7: 140,902,863 (GRCm39) T154A possibly damaging Het
Dido1 A T 2: 180,302,494 (GRCm39) D1803E probably benign Het
Dmxl2 T C 9: 54,327,193 (GRCm39) D944G possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Fbxo15 A G 18: 84,982,267 (GRCm39) I240V probably benign Het
Fcrl2 A G 3: 87,159,803 (GRCm39) C484R probably damaging Het
Fech G T 18: 64,603,856 (GRCm39) Y164* probably null Het
Fer1l5 T A 1: 36,450,355 (GRCm39) W1175R probably damaging Het
Fgfrl1 T C 5: 108,853,372 (GRCm39) Y241H probably damaging Het
Flvcr2 T C 12: 85,793,974 (GRCm39) Y117H probably benign Het
Fsip2 T A 2: 82,823,416 (GRCm39) M6383K probably benign Het
Gcc2 T A 10: 58,105,296 (GRCm39) D141E probably benign Het
Glt1d1 A C 5: 127,783,950 (GRCm39) R301S probably benign Het
Hars1 G C 18: 36,916,107 (GRCm39) A16G probably benign Het
Hmcn2 G T 2: 31,278,385 (GRCm39) G1696C probably damaging Het
Hydin T A 8: 111,145,091 (GRCm39) L814* probably null Het
Izumo4 T A 10: 80,538,551 (GRCm39) M1K probably null Het
Kdm5d T A Y: 916,847 (GRCm39) M414K probably damaging Homo
Kif21b G A 1: 136,086,064 (GRCm39) V812I probably damaging Het
Map3k7 A G 4: 31,988,661 (GRCm39) D270G possibly damaging Het
Mical3 A G 6: 120,936,486 (GRCm39) S1347P probably benign Het
Mras T A 9: 99,276,669 (GRCm39) D67V probably damaging Het
Mtnr1b A T 9: 15,774,509 (GRCm39) Y183* probably null Het
Muc16 A T 9: 18,568,625 (GRCm39) L1298Q unknown Het
Myh2 A T 11: 67,083,829 (GRCm39) I1536F probably benign Het
Or7c19 T C 8: 85,957,787 (GRCm39) I221T possibly damaging Het
Osmr G T 15: 6,850,544 (GRCm39) D686E probably benign Het
Pah T A 10: 87,414,831 (GRCm39) D394E probably benign Het
Pla1a T A 16: 38,237,486 (GRCm39) S71C probably benign Het
Proc T A 18: 32,266,486 (GRCm39) I114L probably benign Het
Psd T G 19: 46,301,826 (GRCm39) probably null Het
Psmb6 C T 11: 70,418,364 (GRCm39) Q226* probably null Het
Rnpepl1 A T 1: 92,847,563 (GRCm39) N717Y probably damaging Het
Rundc1 T C 11: 101,324,988 (GRCm39) S565P probably benign Het
Serpinb5 T A 1: 106,809,495 (GRCm39) S300R probably benign Het
Serpinf2 T C 11: 75,323,257 (GRCm39) D483G probably damaging Het
Smg6 T A 11: 74,944,600 (GRCm39) D116E possibly damaging Het
Srfbp1 G T 18: 52,622,034 (GRCm39) S365I probably benign Het
Stkld1 A G 2: 26,835,872 (GRCm39) T236A probably benign Het
Susd5 T C 9: 113,924,870 (GRCm39) V251A probably benign Het
Tcf25 A G 8: 124,118,332 (GRCm39) Y314C probably damaging Het
Tmem210 A G 2: 25,179,048 (GRCm39) D112G possibly damaging Het
Tubb2b A G 13: 34,311,528 (GRCm39) Y422H probably damaging Het
Tyw1 T C 5: 130,305,872 (GRCm39) S332P possibly damaging Het
Vmn1r29 A C 6: 58,284,412 (GRCm39) Q44P probably damaging Het
Vrtn T C 12: 84,695,792 (GRCm39) S181P probably damaging Het
Wdr76 T A 2: 121,364,712 (GRCm39) Y437N possibly damaging Het
Zc3h18 C A 8: 123,135,025 (GRCm39) probably benign Het
Zfp287 G T 11: 62,616,168 (GRCm39) D174E probably damaging Het
Zfp800 A T 6: 28,244,601 (GRCm39) Y121* probably null Het
Zfyve19 T A 2: 119,041,078 (GRCm39) L57Q probably 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
R5234:Sgsm3 UTSW 15 80,892,145 (GRCm39) missense probably damaging 1.00
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
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'- TGAGCTCCAAGGTTTCGAGG -3'
(R):5'- AGGGCTACCATATTAGGTACATGC -3'

Sequencing Primer
(F):5'- CGGAGGCTCATGTGGCTTAC -3'
(R):5'- ACCATATTAGGTACATGCTCTCCTG -3'
Posted On 2018-04-27