Incidental Mutation 'R8260:Tiam2'
ID 640043
Institutional Source Beutler Lab
Gene Symbol Tiam2
Ensembl Gene ENSMUSG00000023800
Gene Name T cell lymphoma invasion and metastasis 2
Synonyms STEF, 3000002F19Rik
MMRRC Submission 067685-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8260 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 3376675-3569672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3568594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1580 (D1580V)
Ref Sequence ENSEMBL: ENSMUSP00000072020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000072156] [ENSMUST00000169838]
AlphaFold Q6ZPF3
PDB Structure Crystal structure of the Tiam2 PHCCEx domain [X-RAY DIFFRACTION]
Low-resolution crystal structure of the Tiam2 PHCCEx domain [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000041003
SMART Domains Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

DomainStartEndE-ValueType
rADc 43 234 5.56e-69 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000072156
AA Change: D1580V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: D1580V

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 possibly damaging
Transcript: ENSMUST00000169838
AA Change: D1580V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: D1580V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik G C 14: 64,223,633 (GRCm39) L48V probably benign Het
Acbd3 T C 1: 180,566,095 (GRCm39) Y263H probably damaging Het
Acot4 C A 12: 84,088,809 (GRCm39) P219Q possibly damaging Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Ahcyl T C 16: 45,974,786 (GRCm39) E197G probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Arid1b A G 17: 5,382,788 (GRCm39) T1292A probably benign Het
Atp2c1 T A 9: 105,295,778 (GRCm39) I649F probably damaging Het
Bbs10 C T 10: 111,136,104 (GRCm39) Q406* probably null Het
Bcas3 T A 11: 85,400,372 (GRCm39) M447K possibly damaging Het
Bmal1 A T 7: 112,884,258 (GRCm39) I92F probably damaging Het
Cars1 T C 7: 143,139,446 (GRCm39) D214G probably benign Het
Ccdc88a A T 11: 29,443,934 (GRCm39) I1410F probably benign Het
Cd55b A T 1: 130,316,415 (GRCm39) L378H probably damaging Het
Cdh1 G A 8: 107,330,979 (GRCm39) E37K probably benign Het
Cep72 T C 13: 74,206,465 (GRCm39) Y119C probably damaging Het
Ctnnd2 A G 15: 30,634,879 (GRCm39) T176A possibly damaging Het
D630045J12Rik T A 6: 38,119,846 (GRCm39) probably null Het
Ddi1 A T 9: 6,265,524 (GRCm39) C282S probably damaging Het
Ddit4 T C 10: 59,787,277 (GRCm39) T20A probably benign Het
Dpp10 T A 1: 123,614,024 (GRCm39) T102S probably benign Het
Ep400 T A 5: 110,903,478 (GRCm39) K374* probably null Het
Epha3 A G 16: 63,403,917 (GRCm39) L728P probably damaging Het
Fbxw21 C A 9: 108,975,614 (GRCm39) probably null Het
Frmpd1 A G 4: 45,244,638 (GRCm39) E109G probably damaging Het
Ggt1 C T 10: 75,417,245 (GRCm39) P332L probably damaging Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Gm5431 A T 11: 48,785,556 (GRCm39) I273K probably benign Het
Gon4l A G 3: 88,799,937 (GRCm39) N861D probably damaging Het
Grm5 T C 7: 87,724,340 (GRCm39) probably null Het
Helt T C 8: 46,745,745 (GRCm39) N84S possibly damaging Het
Hnrnpa0 G T 13: 58,275,228 (GRCm39) Y300* probably null Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Irf2bp1 C T 7: 18,740,079 (GRCm39) A573V possibly damaging Het
Itgbl1 C A 14: 124,065,246 (GRCm39) D133E probably benign Het
Kctd15 A G 7: 34,344,267 (GRCm39) F128S possibly damaging Het
Klra17 T A 6: 129,808,421 (GRCm39) N271Y probably damaging Het
Kmt2c T A 5: 25,610,514 (GRCm39) E197D possibly damaging Het
Larp1 C A 11: 57,949,515 (GRCm39) T1048K probably benign Het
Macf1 A G 4: 123,365,863 (GRCm39) V2966A probably benign Het
Magi3 A G 3: 103,922,625 (GRCm39) L1364P probably benign Het
Malrd1 T C 2: 15,619,017 (GRCm39) S294P Het
Med13l C T 5: 118,886,794 (GRCm39) T1565I possibly damaging Het
Mov10l1 A G 15: 88,896,313 (GRCm39) D719G probably benign Het
Mtcl3 T A 10: 29,024,270 (GRCm39) H395Q possibly damaging Het
Muc4 CAC CACTAC 16: 32,575,367 (GRCm39) probably benign Het
Myh14 T C 7: 44,264,800 (GRCm39) E1654G probably damaging Het
Myo1c C T 11: 75,546,942 (GRCm39) probably benign Het
Myo9a A G 9: 59,817,961 (GRCm39) T2343A probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2ag18 A T 7: 106,405,234 (GRCm39) V145E possibly damaging Het
Or2d2b A T 7: 106,706,062 (GRCm39) M2K probably benign Het
Or4m1 T C 14: 50,557,615 (GRCm39) K226E probably benign Het
Or52m2 T A 7: 102,263,432 (GRCm39) I255F possibly damaging Het
Or52n5 T A 7: 104,587,879 (GRCm39) Y49N probably damaging Het
Or6c2 T A 10: 129,362,957 (GRCm39) I287N possibly damaging Het
Or8k53 T A 2: 86,177,276 (GRCm39) Y278F possibly damaging Het
Or9g3 A T 2: 85,589,820 (GRCm39) L300Q probably damaging Het
Osmr A T 15: 6,844,897 (GRCm39) D957E probably benign Het
Pappa T A 4: 65,234,419 (GRCm39) V1408E probably damaging Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Pdcd6ip A T 9: 113,501,865 (GRCm39) D464E probably benign Het
Pde1c T C 6: 56,114,404 (GRCm39) Y503C probably benign Het
Potefam3d A T 8: 69,972,400 (GRCm39) D116E possibly damaging Het
Prob1 T A 18: 35,787,210 (GRCm39) E348V possibly damaging Het
Rnls A G 19: 33,180,048 (GRCm39) L134S probably damaging Het
Scrn3 T C 2: 73,166,202 (GRCm39) Y412H probably damaging Het
Serpina3g T C 12: 104,205,362 (GRCm39) S34P probably benign Het
Sertad3 G A 7: 27,175,784 (GRCm39) A73T probably benign Het
Sez6l C T 5: 112,609,122 (GRCm39) A576T probably benign Het
Sh3tc2 G A 18: 62,146,137 (GRCm39) R1172H probably damaging Het
Sirt3 A G 7: 140,456,319 (GRCm39) V110A Het
Smpd3 A T 8: 106,984,047 (GRCm39) D557E probably benign Het
Sptssb A T 3: 69,728,305 (GRCm39) M44K probably damaging Het
Tars2 A G 3: 95,662,132 (GRCm39) W7R probably damaging Het
Tbc1d9b A G 11: 50,055,013 (GRCm39) D964G probably benign Het
Tmeff2 T A 1: 50,977,478 (GRCm39) V130D probably damaging Het
Top2a T A 11: 98,891,595 (GRCm39) E1176V probably null Het
Trappc9 C A 15: 72,813,758 (GRCm39) E680* probably null Het
Trip10 A G 17: 57,564,314 (GRCm39) N355S probably benign Het
Ttn T C 2: 76,596,337 (GRCm39) E20192G probably damaging Het
Vmn2r96 A G 17: 18,804,243 (GRCm39) M306V probably benign Het
Wdr90 A T 17: 26,064,141 (GRCm39) H1860Q probably damaging Het
Wrnip1 A G 13: 32,989,339 (GRCm39) I276V possibly damaging Het
Zfp608 T C 18: 55,030,821 (GRCm39) K1040E possibly damaging Het
Zfp808 T A 13: 62,320,552 (GRCm39) C594S probably benign 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
R0532:Tiam2 UTSW 17 3,471,921 (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
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'- TGCAGACTCTGTTCCGTGTC -3'
(R):5'- GCTGTTCACCTGACTCTGTGAG -3'

Sequencing Primer
(F):5'- TCGTTGAAGGGCCTCAGAACATC -3'
(R):5'- CTCTGTGAGAGGCTGCTGC -3'
Posted On 2020-07-28