Incidental Mutation 'R0532:Tiam2'
ID 49288
Institutional Source Beutler Lab
Gene Symbol Tiam2
Ensembl Gene ENSMUSG00000023800
Gene Name T cell lymphoma invasion and metastasis 2
Synonyms STEF, 3000002F19Rik
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 3376675-3569672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3471921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 521 (K521R)
Ref Sequence ENSEMBL: ENSMUSP00000125842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072156] [ENSMUST00000169838]
AlphaFold Q6ZPF3
Predicted Effect probably damaging
Transcript: ENSMUST00000072156
AA Change: K521R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: K521R

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 damaging
Transcript: ENSMUST00000169838
AA Change: K521R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: K521R

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
Meta Mutation Damage Score 0.2901 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Extl3 A T 14: 65,315,122 (GRCm39) M20K probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Med13l T A 5: 118,897,188 (GRCm39) S2089T possibly damaging Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Rdm1 T A 11: 101,526,661 (GRCm39) C278S probably benign Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Scn4a C T 11: 106,221,226 (GRCm39) G811D probably benign Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Shprh C A 10: 11,038,556 (GRCm39) T437K possibly damaging Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null Het
Other mutations in Tiam2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Tiam2 APN 17 3,465,303 (GRCm39) missense probably benign 0.21
IGL01320:Tiam2 APN 17 3,556,020 (GRCm39) missense probably damaging 1.00
IGL01384:Tiam2 APN 17 3,477,477 (GRCm39) missense probably benign 0.08
IGL01575:Tiam2 APN 17 3,504,591 (GRCm39) missense probably damaging 1.00
IGL01769:Tiam2 APN 17 3,477,565 (GRCm39) missense probably damaging 1.00
IGL02395:Tiam2 APN 17 3,471,756 (GRCm39) missense possibly damaging 0.49
IGL02652:Tiam2 APN 17 3,489,971 (GRCm39) splice site probably benign
IGL03102:Tiam2 APN 17 3,559,823 (GRCm39) missense probably damaging 1.00
IGL03222:Tiam2 APN 17 3,488,983 (GRCm39) missense probably damaging 0.97
Feste_burg UTSW 17 3,464,897 (GRCm39) frame shift probably null
R0257:Tiam2 UTSW 17 3,501,088 (GRCm39) missense possibly damaging 0.49
R0420:Tiam2 UTSW 17 3,553,193 (GRCm39) missense probably benign 0.01
R0528:Tiam2 UTSW 17 3,561,346 (GRCm39) missense probably damaging 1.00
R0551:Tiam2 UTSW 17 3,479,229 (GRCm39) missense probably damaging 1.00
R0554:Tiam2 UTSW 17 3,488,956 (GRCm39) nonsense probably null
R0645:Tiam2 UTSW 17 3,564,973 (GRCm39) missense possibly damaging 0.92
R0726:Tiam2 UTSW 17 3,563,108 (GRCm39) unclassified probably benign
R1139:Tiam2 UTSW 17 3,527,542 (GRCm39) missense possibly damaging 0.55
R1392:Tiam2 UTSW 17 3,464,472 (GRCm39) missense possibly damaging 0.71
R1392:Tiam2 UTSW 17 3,464,472 (GRCm39) missense possibly damaging 0.71
R1529:Tiam2 UTSW 17 3,566,978 (GRCm39) missense probably benign 0.00
R1671:Tiam2 UTSW 17 3,557,109 (GRCm39) missense probably damaging 1.00
R1731:Tiam2 UTSW 17 3,568,698 (GRCm39) missense probably damaging 0.98
R1759:Tiam2 UTSW 17 3,566,278 (GRCm39) missense probably damaging 0.98
R1850:Tiam2 UTSW 17 3,487,510 (GRCm39) missense probably damaging 1.00
R1853:Tiam2 UTSW 17 3,465,410 (GRCm39) missense probably damaging 1.00
R1855:Tiam2 UTSW 17 3,465,410 (GRCm39) missense probably damaging 1.00
R1931:Tiam2 UTSW 17 3,565,000 (GRCm39) missense possibly damaging 0.68
R1932:Tiam2 UTSW 17 3,565,000 (GRCm39) missense possibly damaging 0.68
R1993:Tiam2 UTSW 17 3,465,401 (GRCm39) nonsense probably null
R2211:Tiam2 UTSW 17 3,465,193 (GRCm39) nonsense probably null
R2217:Tiam2 UTSW 17 3,465,389 (GRCm39) missense probably benign 0.34
R2278:Tiam2 UTSW 17 3,477,495 (GRCm39) missense probably damaging 0.96
R2407:Tiam2 UTSW 17 3,527,536 (GRCm39) missense probably benign 0.14
R2516:Tiam2 UTSW 17 3,503,657 (GRCm39) missense probably damaging 1.00
R2991:Tiam2 UTSW 17 3,568,525 (GRCm39) missense probably benign
R3086:Tiam2 UTSW 17 3,471,857 (GRCm39) missense probably damaging 1.00
R3121:Tiam2 UTSW 17 3,489,977 (GRCm39) missense probably benign 0.01
R3686:Tiam2 UTSW 17 3,471,959 (GRCm39) missense possibly damaging 0.87
R3740:Tiam2 UTSW 17 3,464,388 (GRCm39) missense possibly damaging 0.54
R3742:Tiam2 UTSW 17 3,464,388 (GRCm39) missense possibly damaging 0.54
R3826:Tiam2 UTSW 17 3,557,976 (GRCm39) splice site probably benign
R3829:Tiam2 UTSW 17 3,557,976 (GRCm39) splice site probably benign
R3844:Tiam2 UTSW 17 3,471,926 (GRCm39) missense probably damaging 0.98
R3970:Tiam2 UTSW 17 3,479,106 (GRCm39) missense probably damaging 1.00
R4060:Tiam2 UTSW 17 3,479,255 (GRCm39) missense probably benign 0.00
R4296:Tiam2 UTSW 17 3,501,120 (GRCm39) missense probably benign
R4357:Tiam2 UTSW 17 3,501,128 (GRCm39) missense probably damaging 1.00
R4368:Tiam2 UTSW 17 3,464,958 (GRCm39) missense probably benign 0.01
R4369:Tiam2 UTSW 17 3,464,242 (GRCm39) start gained probably benign
R4524:Tiam2 UTSW 17 3,564,986 (GRCm39) missense probably damaging 1.00
R4619:Tiam2 UTSW 17 3,568,617 (GRCm39) missense probably damaging 1.00
R4715:Tiam2 UTSW 17 3,504,443 (GRCm39) missense probably damaging 1.00
R4723:Tiam2 UTSW 17 3,500,592 (GRCm39) missense probably benign 0.00
R4979:Tiam2 UTSW 17 3,555,985 (GRCm39) missense probably damaging 1.00
R5182:Tiam2 UTSW 17 3,488,996 (GRCm39) missense probably damaging 1.00
R5451:Tiam2 UTSW 17 3,479,271 (GRCm39) missense probably damaging 1.00
R5728:Tiam2 UTSW 17 3,465,231 (GRCm39) missense probably damaging 0.99
R5827:Tiam2 UTSW 17 3,498,764 (GRCm39) missense probably benign 0.00
R5879:Tiam2 UTSW 17 3,487,540 (GRCm39) missense probably damaging 1.00
R5960:Tiam2 UTSW 17 3,488,915 (GRCm39) missense probably benign 0.24
R5974:Tiam2 UTSW 17 3,465,084 (GRCm39) missense possibly damaging 0.51
R6198:Tiam2 UTSW 17 3,464,396 (GRCm39) missense probably benign 0.06
R6222:Tiam2 UTSW 17 3,503,613 (GRCm39) missense probably damaging 0.96
R6295:Tiam2 UTSW 17 3,559,831 (GRCm39) missense probably damaging 1.00
R6355:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6356:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6454:Tiam2 UTSW 17 3,488,938 (GRCm39) missense probably benign 0.00
R6497:Tiam2 UTSW 17 3,557,102 (GRCm39) missense probably damaging 1.00
R6579:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6580:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6581:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6582:Tiam2 UTSW 17 3,464,897 (GRCm39) frame shift probably null
R6648:Tiam2 UTSW 17 3,557,148 (GRCm39) missense probably damaging 1.00
R6705:Tiam2 UTSW 17 3,568,518 (GRCm39) missense probably benign 0.01
R6758:Tiam2 UTSW 17 3,568,678 (GRCm39) missense probably benign 0.01
R6836:Tiam2 UTSW 17 3,464,655 (GRCm39) missense probably benign 0.17
R6924:Tiam2 UTSW 17 3,558,070 (GRCm39) missense probably damaging 1.00
R6977:Tiam2 UTSW 17 3,568,934 (GRCm39) missense probably damaging 1.00
R7051:Tiam2 UTSW 17 3,498,758 (GRCm39) missense probably damaging 0.99
R7151:Tiam2 UTSW 17 3,498,660 (GRCm39) missense probably benign 0.36
R7214:Tiam2 UTSW 17 3,568,687 (GRCm39) missense possibly damaging 0.85
R7332:Tiam2 UTSW 17 3,503,644 (GRCm39) missense probably damaging 1.00
R7334:Tiam2 UTSW 17 3,553,283 (GRCm39) missense possibly damaging 0.92
R7414:Tiam2 UTSW 17 3,464,388 (GRCm39) missense possibly damaging 0.54
R7660:Tiam2 UTSW 17 3,532,880 (GRCm39) start codon destroyed probably null 0.66
R7743:Tiam2 UTSW 17 3,568,431 (GRCm39) missense possibly damaging 0.53
R7755:Tiam2 UTSW 17 3,471,591 (GRCm39) missense probably benign 0.01
R7805:Tiam2 UTSW 17 3,559,685 (GRCm39) missense probably damaging 1.00
R7813:Tiam2 UTSW 17 3,487,522 (GRCm39) missense probably damaging 1.00
R7842:Tiam2 UTSW 17 3,568,399 (GRCm39) missense possibly damaging 0.82
R7989:Tiam2 UTSW 17 3,568,524 (GRCm39) nonsense probably null
R8011:Tiam2 UTSW 17 3,498,671 (GRCm39) missense possibly damaging 0.92
R8221:Tiam2 UTSW 17 3,568,860 (GRCm39) missense probably damaging 0.99
R8260:Tiam2 UTSW 17 3,568,594 (GRCm39) missense possibly damaging 0.94
R8292:Tiam2 UTSW 17 3,557,142 (GRCm39) missense probably benign 0.01
R8406:Tiam2 UTSW 17 3,558,065 (GRCm39) missense possibly damaging 0.94
R8424:Tiam2 UTSW 17 3,566,317 (GRCm39) missense probably damaging 1.00
R8424:Tiam2 UTSW 17 3,566,316 (GRCm39) missense probably damaging 1.00
R8430:Tiam2 UTSW 17 3,568,537 (GRCm39) missense probably benign 0.05
R8530:Tiam2 UTSW 17 3,501,087 (GRCm39) missense probably benign 0.03
R8692:Tiam2 UTSW 17 3,479,082 (GRCm39) missense probably damaging 1.00
R8902:Tiam2 UTSW 17 3,527,471 (GRCm39) missense probably benign 0.00
R9067:Tiam2 UTSW 17 3,561,407 (GRCm39) missense probably damaging 1.00
R9080:Tiam2 UTSW 17 3,464,519 (GRCm39) missense probably benign
R9090:Tiam2 UTSW 17 3,465,011 (GRCm39) missense probably damaging 1.00
R9211:Tiam2 UTSW 17 3,498,729 (GRCm39) missense possibly damaging 0.94
R9271:Tiam2 UTSW 17 3,465,011 (GRCm39) missense probably damaging 1.00
R9347:Tiam2 UTSW 17 3,471,923 (GRCm39) missense probably benign 0.37
R9353:Tiam2 UTSW 17 3,558,074 (GRCm39) nonsense probably null
R9407:Tiam2 UTSW 17 3,553,298 (GRCm39) missense probably damaging 1.00
R9460:Tiam2 UTSW 17 3,487,585 (GRCm39) missense probably damaging 1.00
R9550:Tiam2 UTSW 17 3,559,706 (GRCm39) missense probably damaging 1.00
R9748:Tiam2 UTSW 17 3,561,440 (GRCm39) missense probably benign 0.20
X0027:Tiam2 UTSW 17 3,464,275 (GRCm39) start codon destroyed probably null 1.00
X0060:Tiam2 UTSW 17 3,500,629 (GRCm39) splice site probably null
X0065:Tiam2 UTSW 17 3,555,983 (GRCm39) missense probably damaging 1.00
Z1088:Tiam2 UTSW 17 3,465,294 (GRCm39) missense probably benign 0.01
Z1176:Tiam2 UTSW 17 3,556,051 (GRCm39) missense probably null 1.00
Z1177:Tiam2 UTSW 17 3,477,538 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCACTCAGATGGACTGAATGCAGAAG -3'
(R):5'- CAATATTTACTCGACCATGCTGACCCC -3'

Sequencing Primer
(F):5'- CTATGAGAATTTCATGCGAGAGC -3'
(R):5'- CACCAGCACTTCCAGGTGAG -3'
Posted On 2013-06-12