Incidental Mutation 'R1993:Tiam2'
ID 224004
Institutional Source Beutler Lab
Gene Symbol Tiam2
Ensembl Gene ENSMUSG00000023800
Gene Name T cell lymphoma invasion and metastasis 2
Synonyms 3000002F19Rik, STEF
MMRRC Submission 040004-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1993 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 3326573-3531344 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 3415126 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 377 (R377*)
Ref Sequence ENSEMBL: ENSMUSP00000125842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072156] [ENSMUST00000169838]
AlphaFold Q6ZPF3
Predicted Effect probably null
Transcript: ENSMUST00000072156
AA Change: R377*
SMART Domains Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: R377*

DomainStartEndE-ValueType
low complexity region 230 245 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
PH 505 620 7.82e-16 SMART
RBD 831 902 1.32e-26 SMART
PDZ 921 995 2.38e-7 SMART
RhoGEF 1124 1313 2.23e-61 SMART
PH 1347 1478 2.86e0 SMART
low complexity region 1522 1532 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000169838
AA Change: R377*
SMART Domains Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: R377*

DomainStartEndE-ValueType
low complexity region 230 245 N/A INTRINSIC
low complexity region 267 281 N/A INTRINSIC
low complexity region 471 492 N/A INTRINSIC
PH 505 620 7.82e-16 SMART
RBD 831 902 1.32e-26 SMART
PDZ 921 995 2.38e-7 SMART
RhoGEF 1124 1313 2.23e-61 SMART
PH 1347 1478 2.86e0 SMART
low complexity region 1522 1532 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226905
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T G 5: 8,821,322 (GRCm38) I292S possibly damaging Het
Abcc4 T C 14: 118,526,282 (GRCm38) N1047S probably benign Het
Abcc8 G T 7: 46,117,423 (GRCm38) probably null Het
Akap9 T A 5: 4,038,520 (GRCm38) probably null Het
Alox5 T A 6: 116,415,463 (GRCm38) I366F probably damaging Het
Amn A G 12: 111,276,092 (GRCm38) N447S probably damaging Het
Ankrd22 A T 19: 34,165,774 (GRCm38) M1K probably null Het
Asic1 G T 15: 99,671,884 (GRCm38) G29C probably damaging Het
Atxn7l1 A G 12: 33,345,977 (GRCm38) N235S probably benign Het
AY358078 T A 14: 51,826,062 (GRCm38) D388E probably damaging Het
Bod1l A G 5: 41,817,336 (GRCm38) S2212P probably damaging Het
Cacna1e T A 1: 154,477,817 (GRCm38) Q423L probably damaging Het
Calu T C 6: 29,366,975 (GRCm38) I62T possibly damaging Het
Cars2 A G 8: 11,514,515 (GRCm38) V75A probably benign Het
Catsperb T A 12: 101,602,767 (GRCm38) N899K possibly damaging Het
Ccdc50 T A 16: 27,409,339 (GRCm38) C86* probably null Het
Cdh5 G T 8: 104,137,815 (GRCm38) L469F probably damaging Het
Clrn3 A T 7: 135,514,119 (GRCm38) D167E probably benign Het
Csmd1 A T 8: 16,346,684 (GRCm38) C411S probably damaging Het
Dchs1 A T 7: 105,762,548 (GRCm38) S1454T probably benign Het
Ddx20 G A 3: 105,679,344 (GRCm38) Q562* probably null Het
Dgkg T G 16: 22,600,594 (GRCm38) Y52S probably damaging Het
Dhx58 T C 11: 100,703,490 (GRCm38) probably null Het
Dpp6 A T 5: 27,399,006 (GRCm38) I145L probably benign Het
Efna2 A T 10: 80,186,877 (GRCm38) Y85F possibly damaging Het
Eif3a C T 19: 60,781,516 (GRCm38) V127I probably benign Het
Exph5 A T 9: 53,373,635 (GRCm38) H672L possibly damaging Het
Fam131b T C 6: 42,320,884 (GRCm38) T112A possibly damaging Het
Fcgr1 A T 3: 96,285,868 (GRCm38) V271E probably damaging Het
Fgfr4 A G 13: 55,165,902 (GRCm38) D508G probably damaging Het
Fndc3b A G 3: 27,419,400 (GRCm38) M1172T probably benign Het
Fryl G T 5: 73,108,493 (GRCm38) T495K probably damaging Het
Garin5b A T 7: 4,758,018 (GRCm38) V565E probably damaging Het
Gm5134 A T 10: 75,966,393 (GRCm38) I93F probably damaging Het
Gpbar1 G A 1: 74,279,444 (GRCm38) G282D possibly damaging Het
Gria2 G A 3: 80,802,357 (GRCm38) L10F probably benign Het
Grm7 T C 6: 111,207,808 (GRCm38) Y367H probably benign Het
H1f9 T A 11: 94,968,032 (GRCm38) V51E probably damaging Het
Hivep1 G A 13: 42,157,493 (GRCm38) A1070T probably benign Het
Il33 A G 19: 29,956,904 (GRCm38) D155G possibly damaging Het
Kdm6b T C 11: 69,406,303 (GRCm38) S408G probably null Het
Kntc1 A G 5: 123,810,811 (GRCm38) probably null Het
Kntc1 G A 5: 123,759,099 (GRCm38) probably null Het
Ltbp2 T G 12: 84,808,446 (GRCm38) probably null Het
Mapk8ip3 G T 17: 24,914,588 (GRCm38) L83I probably damaging Het
Meltf C A 16: 31,892,622 (GRCm38) Y554* probably null Het
Mov10 A C 3: 104,799,419 (GRCm38) F725C probably damaging Het
Ms4a6d A C 19: 11,590,159 (GRCm38) L18R probably damaging Het
Naip2 T C 13: 100,162,007 (GRCm38) N507S probably benign Het
Nodal A G 10: 61,418,334 (GRCm38) Q12R probably benign Het
Npy6r T C 18: 44,276,508 (GRCm38) L332P probably damaging Het
Nrxn3 A G 12: 89,260,411 (GRCm38) K272R possibly damaging Het
Obox2 G T 7: 15,397,249 (GRCm38) K93N probably benign Het
Or10j27 C T 1: 173,130,851 (GRCm38) R122H possibly damaging Het
Or51a6 G T 7: 102,954,746 (GRCm38) P285Q probably damaging Het
Or5b112 A G 19: 13,341,814 (GRCm38) T19A possibly damaging Het
Or5w13 C T 2: 87,693,433 (GRCm38) V150M probably benign Het
Pcdh12 T A 18: 38,282,143 (GRCm38) D643V possibly damaging Het
Pcsk2 A G 2: 143,687,619 (GRCm38) D112G probably benign Het
Pms1 A G 1: 53,195,015 (GRCm38) S781P probably benign Het
Prtg A G 9: 72,844,896 (GRCm38) D188G probably benign Het
Psg21 A T 7: 18,654,770 (GRCm38) N132K probably benign Het
Psip1 A G 4: 83,482,532 (GRCm38) V25A probably damaging Het
Psmd13 T A 7: 140,898,194 (GRCm38) I319N probably damaging Het
Ptges2 A G 2: 32,400,092 (GRCm38) T173A probably benign Het
Ptprm G A 17: 66,747,160 (GRCm38) R975W probably damaging Het
Rdh1 A G 10: 127,765,345 (GRCm38) D254G probably benign Het
Rnf138 T G 18: 21,024,483 (GRCm38) N212K probably damaging Het
Serpine2 A G 1: 79,821,442 (GRCm38) S32P probably damaging Het
Serpini1 G T 3: 75,614,664 (GRCm38) W154L probably damaging Het
Sf3a1 C A 11: 4,179,177 (GRCm38) Q713K possibly damaging Het
Sgo2b A T 8: 63,926,833 (GRCm38) H988Q probably benign Het
Sin3a T C 9: 57,101,199 (GRCm38) F468L probably damaging Het
Slamf6 A T 1: 171,934,209 (GRCm38) I66F possibly damaging Het
Slc22a28 A T 19: 8,117,124 (GRCm38) C178S possibly damaging Het
Slc35a1 A C 4: 34,675,181 (GRCm38) V119G probably damaging Het
Slc39a12 A T 2: 14,434,219 (GRCm38) H428L probably damaging Het
Speer2 A G 16: 69,858,077 (GRCm38) S167P probably benign Het
Sphkap G A 1: 83,277,515 (GRCm38) R838* probably null Het
Spsb2 T C 6: 124,809,366 (GRCm38) probably null Het
Stam2 A T 2: 52,703,156 (GRCm38) Y341* probably null Het
Sv2b G A 7: 75,206,341 (GRCm38) A67V probably benign Het
Svep1 A G 4: 58,064,170 (GRCm38) probably null Het
Syt15 A T 14: 34,223,012 (GRCm38) Q172L probably benign Het
T G A 17: 8,441,802 (GRCm38) S415N probably benign Het
Tep1 A G 14: 50,824,184 (GRCm38) F2625S possibly damaging Het
Tex14 T C 11: 87,536,755 (GRCm38) V11A possibly damaging Het
Tirap A G 9: 35,191,016 (GRCm38) probably null Het
Tm4sf20 T C 1: 82,760,217 (GRCm38) T118A probably benign Het
Trank1 A T 9: 111,378,832 (GRCm38) Q1715L probably benign Het
Trpm2 C T 10: 77,947,989 (GRCm38) V217M probably damaging Het
Ubap1l G A 9: 65,371,796 (GRCm38) E126K possibly damaging Het
Urgcp G T 11: 5,716,526 (GRCm38) P604Q probably damaging Het
Vmn1r63 A G 7: 5,803,255 (GRCm38) V126A probably benign Het
Vmn2r90 T C 17: 17,713,263 (GRCm38) C362R probably damaging Het
Vmn2r96 A G 17: 18,583,876 (GRCm38) I271V probably damaging Het
Vps13a A T 19: 16,722,458 (GRCm38) I740K probably benign Het
Vps13c A G 9: 67,975,856 (GRCm38) T3562A probably damaging Het
Wdr91 T A 6: 34,892,362 (GRCm38) H409L probably damaging Het
Wnt7a T A 6: 91,365,956 (GRCm38) T315S possibly damaging Het
Zfp616 A G 11: 74,084,969 (GRCm38) H688R probably benign Het
Zfp763 A T 17: 33,018,439 (GRCm38) H577Q probably damaging Het
Zfp808 G A 13: 62,172,907 (GRCm38) S650N probably benign Het
Zfp977 A T 7: 42,579,985 (GRCm38) M372K probably benign Het
Other mutations in Tiam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Tiam2 APN 17 3,415,028 (GRCm38) missense probably benign 0.21
IGL01320:Tiam2 APN 17 3,505,745 (GRCm38) missense probably damaging 1.00
IGL01384:Tiam2 APN 17 3,427,202 (GRCm38) missense probably benign 0.08
IGL01575:Tiam2 APN 17 3,454,316 (GRCm38) missense probably damaging 1.00
IGL01769:Tiam2 APN 17 3,427,290 (GRCm38) missense probably damaging 1.00
IGL02395:Tiam2 APN 17 3,421,481 (GRCm38) missense possibly damaging 0.49
IGL02652:Tiam2 APN 17 3,439,696 (GRCm38) splice site probably benign
IGL03102:Tiam2 APN 17 3,509,548 (GRCm38) missense probably damaging 1.00
IGL03222:Tiam2 APN 17 3,438,708 (GRCm38) missense probably damaging 0.97
Feste_burg UTSW 17 3,414,622 (GRCm38) frame shift probably null
R0257:Tiam2 UTSW 17 3,450,813 (GRCm38) missense possibly damaging 0.49
R0420:Tiam2 UTSW 17 3,502,918 (GRCm38) missense probably benign 0.01
R0528:Tiam2 UTSW 17 3,511,071 (GRCm38) missense probably damaging 1.00
R0532:Tiam2 UTSW 17 3,421,646 (GRCm38) missense probably damaging 1.00
R0551:Tiam2 UTSW 17 3,428,954 (GRCm38) missense probably damaging 1.00
R0554:Tiam2 UTSW 17 3,438,681 (GRCm38) nonsense probably null
R0645:Tiam2 UTSW 17 3,514,698 (GRCm38) missense possibly damaging 0.92
R0726:Tiam2 UTSW 17 3,512,833 (GRCm38) unclassified probably benign
R1139:Tiam2 UTSW 17 3,477,267 (GRCm38) missense possibly damaging 0.55
R1392:Tiam2 UTSW 17 3,414,197 (GRCm38) missense possibly damaging 0.71
R1392:Tiam2 UTSW 17 3,414,197 (GRCm38) missense possibly damaging 0.71
R1529:Tiam2 UTSW 17 3,516,703 (GRCm38) missense probably benign 0.00
R1671:Tiam2 UTSW 17 3,506,834 (GRCm38) missense probably damaging 1.00
R1731:Tiam2 UTSW 17 3,518,423 (GRCm38) missense probably damaging 0.98
R1759:Tiam2 UTSW 17 3,516,003 (GRCm38) missense probably damaging 0.98
R1850:Tiam2 UTSW 17 3,437,235 (GRCm38) missense probably damaging 1.00
R1853:Tiam2 UTSW 17 3,415,135 (GRCm38) missense probably damaging 1.00
R1855:Tiam2 UTSW 17 3,415,135 (GRCm38) missense probably damaging 1.00
R1931:Tiam2 UTSW 17 3,514,725 (GRCm38) missense possibly damaging 0.68
R1932:Tiam2 UTSW 17 3,514,725 (GRCm38) missense possibly damaging 0.68
R2211:Tiam2 UTSW 17 3,414,918 (GRCm38) nonsense probably null
R2217:Tiam2 UTSW 17 3,415,114 (GRCm38) missense probably benign 0.34
R2278:Tiam2 UTSW 17 3,427,220 (GRCm38) missense probably damaging 0.96
R2407:Tiam2 UTSW 17 3,477,261 (GRCm38) missense probably benign 0.14
R2516:Tiam2 UTSW 17 3,453,382 (GRCm38) missense probably damaging 1.00
R2991:Tiam2 UTSW 17 3,518,250 (GRCm38) missense probably benign
R3086:Tiam2 UTSW 17 3,421,582 (GRCm38) missense probably damaging 1.00
R3121:Tiam2 UTSW 17 3,439,702 (GRCm38) missense probably benign 0.01
R3686:Tiam2 UTSW 17 3,421,684 (GRCm38) missense possibly damaging 0.87
R3740:Tiam2 UTSW 17 3,414,113 (GRCm38) missense possibly damaging 0.54
R3742:Tiam2 UTSW 17 3,414,113 (GRCm38) missense possibly damaging 0.54
R3826:Tiam2 UTSW 17 3,507,701 (GRCm38) splice site probably benign
R3829:Tiam2 UTSW 17 3,507,701 (GRCm38) splice site probably benign
R3844:Tiam2 UTSW 17 3,421,651 (GRCm38) missense probably damaging 0.98
R3970:Tiam2 UTSW 17 3,428,831 (GRCm38) missense probably damaging 1.00
R4060:Tiam2 UTSW 17 3,428,980 (GRCm38) missense probably benign 0.00
R4296:Tiam2 UTSW 17 3,450,845 (GRCm38) missense probably benign
R4357:Tiam2 UTSW 17 3,450,853 (GRCm38) missense probably damaging 1.00
R4368:Tiam2 UTSW 17 3,414,683 (GRCm38) missense probably benign 0.01
R4369:Tiam2 UTSW 17 3,413,967 (GRCm38) start gained probably benign
R4524:Tiam2 UTSW 17 3,514,711 (GRCm38) missense probably damaging 1.00
R4619:Tiam2 UTSW 17 3,518,342 (GRCm38) missense probably damaging 1.00
R4715:Tiam2 UTSW 17 3,454,168 (GRCm38) missense probably damaging 1.00
R4723:Tiam2 UTSW 17 3,450,317 (GRCm38) missense probably benign 0.00
R4979:Tiam2 UTSW 17 3,505,710 (GRCm38) missense probably damaging 1.00
R5182:Tiam2 UTSW 17 3,438,721 (GRCm38) missense probably damaging 1.00
R5451:Tiam2 UTSW 17 3,428,996 (GRCm38) missense probably damaging 1.00
R5728:Tiam2 UTSW 17 3,414,956 (GRCm38) missense probably damaging 0.99
R5827:Tiam2 UTSW 17 3,448,489 (GRCm38) missense probably benign 0.00
R5879:Tiam2 UTSW 17 3,437,265 (GRCm38) missense probably damaging 1.00
R5960:Tiam2 UTSW 17 3,438,640 (GRCm38) missense probably benign 0.24
R5974:Tiam2 UTSW 17 3,414,809 (GRCm38) missense possibly damaging 0.51
R6198:Tiam2 UTSW 17 3,414,121 (GRCm38) missense probably benign 0.06
R6222:Tiam2 UTSW 17 3,453,338 (GRCm38) missense probably damaging 0.96
R6295:Tiam2 UTSW 17 3,509,556 (GRCm38) missense probably damaging 1.00
R6355:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6356:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6454:Tiam2 UTSW 17 3,438,663 (GRCm38) missense probably benign 0.00
R6497:Tiam2 UTSW 17 3,506,827 (GRCm38) missense probably damaging 1.00
R6579:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6580:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6581:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6582:Tiam2 UTSW 17 3,414,622 (GRCm38) frame shift probably null
R6648:Tiam2 UTSW 17 3,506,873 (GRCm38) missense probably damaging 1.00
R6705:Tiam2 UTSW 17 3,518,243 (GRCm38) missense probably benign 0.01
R6758:Tiam2 UTSW 17 3,518,403 (GRCm38) missense probably benign 0.01
R6836:Tiam2 UTSW 17 3,414,380 (GRCm38) missense probably benign 0.17
R6924:Tiam2 UTSW 17 3,507,795 (GRCm38) missense probably damaging 1.00
R6977:Tiam2 UTSW 17 3,518,659 (GRCm38) missense probably damaging 1.00
R7051:Tiam2 UTSW 17 3,448,483 (GRCm38) missense probably damaging 0.99
R7151:Tiam2 UTSW 17 3,448,385 (GRCm38) missense probably benign 0.36
R7214:Tiam2 UTSW 17 3,518,412 (GRCm38) missense possibly damaging 0.85
R7332:Tiam2 UTSW 17 3,453,369 (GRCm38) missense probably damaging 1.00
R7334:Tiam2 UTSW 17 3,503,008 (GRCm38) missense possibly damaging 0.92
R7414:Tiam2 UTSW 17 3,414,113 (GRCm38) missense possibly damaging 0.54
R7660:Tiam2 UTSW 17 3,482,605 (GRCm38) start codon destroyed probably null 0.66
R7743:Tiam2 UTSW 17 3,518,156 (GRCm38) missense possibly damaging 0.53
R7755:Tiam2 UTSW 17 3,421,316 (GRCm38) missense probably benign 0.01
R7805:Tiam2 UTSW 17 3,509,410 (GRCm38) missense probably damaging 1.00
R7813:Tiam2 UTSW 17 3,437,247 (GRCm38) missense probably damaging 1.00
R7842:Tiam2 UTSW 17 3,518,124 (GRCm38) missense possibly damaging 0.82
R7989:Tiam2 UTSW 17 3,518,249 (GRCm38) nonsense probably null
R8011:Tiam2 UTSW 17 3,448,396 (GRCm38) missense possibly damaging 0.92
R8221:Tiam2 UTSW 17 3,518,585 (GRCm38) missense probably damaging 0.99
R8260:Tiam2 UTSW 17 3,518,319 (GRCm38) missense possibly damaging 0.94
R8292:Tiam2 UTSW 17 3,506,867 (GRCm38) missense probably benign 0.01
R8406:Tiam2 UTSW 17 3,507,790 (GRCm38) missense possibly damaging 0.94
R8424:Tiam2 UTSW 17 3,516,042 (GRCm38) missense probably damaging 1.00
R8424:Tiam2 UTSW 17 3,516,041 (GRCm38) missense probably damaging 1.00
R8430:Tiam2 UTSW 17 3,518,262 (GRCm38) missense probably benign 0.05
R8530:Tiam2 UTSW 17 3,450,812 (GRCm38) missense probably benign 0.03
R8692:Tiam2 UTSW 17 3,428,807 (GRCm38) missense probably damaging 1.00
R8902:Tiam2 UTSW 17 3,477,196 (GRCm38) missense probably benign 0.00
R9067:Tiam2 UTSW 17 3,511,132 (GRCm38) missense probably damaging 1.00
R9080:Tiam2 UTSW 17 3,414,244 (GRCm38) missense probably benign
R9090:Tiam2 UTSW 17 3,414,736 (GRCm38) missense probably damaging 1.00
R9211:Tiam2 UTSW 17 3,448,454 (GRCm38) missense possibly damaging 0.94
R9271:Tiam2 UTSW 17 3,414,736 (GRCm38) missense probably damaging 1.00
R9347:Tiam2 UTSW 17 3,421,648 (GRCm38) missense probably benign 0.37
R9353:Tiam2 UTSW 17 3,507,799 (GRCm38) nonsense probably null
R9407:Tiam2 UTSW 17 3,503,023 (GRCm38) missense probably damaging 1.00
R9460:Tiam2 UTSW 17 3,437,310 (GRCm38) missense probably damaging 1.00
R9550:Tiam2 UTSW 17 3,509,431 (GRCm38) missense probably damaging 1.00
R9748:Tiam2 UTSW 17 3,511,165 (GRCm38) missense probably benign 0.20
X0027:Tiam2 UTSW 17 3,414,000 (GRCm38) start codon destroyed probably null 1.00
X0060:Tiam2 UTSW 17 3,450,354 (GRCm38) splice site probably null
X0065:Tiam2 UTSW 17 3,505,708 (GRCm38) missense probably damaging 1.00
Z1088:Tiam2 UTSW 17 3,415,019 (GRCm38) missense probably benign 0.01
Z1176:Tiam2 UTSW 17 3,505,776 (GRCm38) missense probably null 1.00
Z1177:Tiam2 UTSW 17 3,427,263 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAGCTCTCAAGTCAGCCTG -3'
(R):5'- AGACTCAGAGTGGATTACTGAAGC -3'

Sequencing Primer
(F):5'- GAACAACCGAGTCTCCTTTGCG -3'
(R):5'- CAGAAATAAGCTGTGCTGGGTCTTC -3'
Posted On 2014-08-25