Incidental Mutation 'R1932:Tiam2'
ID 215516
Institutional Source Beutler Lab
Gene Symbol Tiam2
Ensembl Gene ENSMUSG00000023800
Gene Name T cell lymphoma invasion and metastasis 2
Synonyms STEF, 3000002F19Rik
MMRRC Submission 039950-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1932 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 3376675-3569672 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3565000 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 1413 (R1413C)
Ref Sequence ENSEMBL: ENSMUSP00000125842 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000072156] [ENSMUST00000169838] [ENSMUST00000227405]
AlphaFold Q6ZPF3
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: R1413C

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: R1413C

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: R1413C

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: R1413C

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: ENSMUST00000226434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226997
Predicted Effect probably benign
Transcript: ENSMUST00000227405
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,190,691 (GRCm39) Q278H probably benign Het
Ace3 T C 11: 105,895,436 (GRCm39) probably null Het
Aco1 T C 4: 40,176,499 (GRCm39) V221A probably damaging Het
Adamts20 T A 15: 94,301,891 (GRCm39) H27L probably benign Het
Adamts8 A G 9: 30,867,808 (GRCm39) D544G probably benign Het
Angptl4 C A 17: 34,000,249 (GRCm39) E40* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atf7ip2 T A 16: 10,059,567 (GRCm39) I369N possibly damaging Het
Atp6ap1l T A 13: 91,031,806 (GRCm39) Y292F probably damaging Het
Atp6v1b2 A T 8: 69,555,459 (GRCm39) K217* probably null Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Blvra T A 2: 126,937,068 (GRCm39) W174R probably damaging Het
Catsperg1 C T 7: 28,897,568 (GRCm39) G239R probably damaging Het
Ccdc157 G T 11: 4,096,549 (GRCm39) A400D probably damaging Het
Chd2 G T 7: 73,104,193 (GRCm39) P1298T probably damaging Het
CK137956 G A 4: 127,840,651 (GRCm39) L352F possibly damaging Het
Col22a1 G A 15: 71,741,989 (GRCm39) P503S unknown Het
Cox15 C T 19: 43,735,224 (GRCm39) R181H probably benign Het
Crem C T 18: 3,299,284 (GRCm39) G47R probably benign Het
Crygs T A 16: 22,625,304 (GRCm39) T46S probably benign Het
Cts8 T A 13: 61,401,429 (GRCm39) H62L probably damaging Het
Cyp4a32 T A 4: 115,468,474 (GRCm39) F319I possibly damaging Het
Dchs1 T C 7: 105,415,109 (GRCm39) S692G probably damaging Het
Ddx23 G A 15: 98,548,599 (GRCm39) R370W possibly damaging Het
Defa29 A T 8: 21,816,865 (GRCm39) S43T probably damaging Het
Dnajc14 A G 10: 128,652,661 (GRCm39) D573G probably damaging Het
Drd5 A G 5: 38,477,319 (GRCm39) Y104C probably benign Het
Efcab7 C T 4: 99,768,215 (GRCm39) P102L probably damaging Het
Efhc1 A G 1: 21,037,624 (GRCm39) Y267C probably damaging Het
Eif2ak4 T C 2: 118,278,967 (GRCm39) Y243H probably damaging Het
Gfm2 T A 13: 97,278,475 (GRCm39) I7N probably damaging Het
Gmds A G 13: 32,311,980 (GRCm39) F150L possibly damaging Het
Gp2 T C 7: 119,053,455 (GRCm39) T169A possibly damaging Het
Grb14 A G 2: 64,743,146 (GRCm39) F508L probably damaging Het
Hdac5 T A 11: 102,086,698 (GRCm39) probably benign Het
Heatr1 T A 13: 12,450,066 (GRCm39) M620K probably damaging Het
Herc3 A G 6: 58,853,778 (GRCm39) E608G probably damaging Het
Hoxb4 T C 11: 96,210,867 (GRCm39) Y156H probably damaging Het
Ifi205 T A 1: 173,855,980 (GRCm39) I17F possibly damaging Het
Il2rb A T 15: 78,375,977 (GRCm39) S25T possibly damaging Het
Kansl1 T C 11: 104,225,923 (GRCm39) T998A probably damaging Het
Kcna6 G T 6: 126,715,451 (GRCm39) H479Q probably benign Het
Kif2a T C 13: 107,114,599 (GRCm39) K350R probably benign Het
Lct G T 1: 128,221,898 (GRCm39) A1547E probably damaging Het
Lhx9 T A 1: 138,769,747 (GRCm39) probably benign Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Lrp4 G A 2: 91,327,700 (GRCm39) W1516* probably null Het
Lrp5 C T 19: 3,660,131 (GRCm39) V978I probably benign Het
Ltbp1 T A 17: 75,620,029 (GRCm39) D719E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Macf1 A G 4: 123,345,830 (GRCm39) I1326T probably damaging Het
Manba T C 3: 135,250,501 (GRCm39) F376S probably benign Het
Mink1 T C 11: 70,499,254 (GRCm39) probably null Het
Nfatc2ip C T 7: 125,984,164 (GRCm39) V410I probably damaging Het
Nlrp1b A T 11: 71,072,964 (GRCm39) I293N probably damaging Het
Or10aa3 T C 1: 173,878,244 (GRCm39) Y102H probably damaging Het
Otol1 A C 3: 69,935,437 (GRCm39) E476D probably benign Het
Pcdhb4 C T 18: 37,442,594 (GRCm39) P635S probably benign Het
Pfkfb4 T A 9: 108,828,237 (GRCm39) F91I probably damaging Het
Polq G A 16: 36,882,666 (GRCm39) R1610Q possibly damaging Het
Polr3c A T 3: 96,626,614 (GRCm39) L270H probably damaging Het
Ppp1r15b C T 1: 133,059,363 (GRCm39) probably benign Het
Prkca T G 11: 108,082,975 (GRCm39) D90A probably benign Het
Sall3 T C 18: 81,012,968 (GRCm39) D1156G probably benign Het
Scn7a A T 2: 66,506,446 (GRCm39) L1481H probably damaging Het
Selenon A T 4: 134,271,929 (GRCm39) I292N probably damaging Het
Sema6d T A 2: 124,501,806 (GRCm39) probably null Het
Sgpp1 G T 12: 75,762,953 (GRCm39) Y409* probably null Het
Sh3pxd2a A G 19: 47,255,947 (GRCm39) S924P probably benign Het
Slc25a13 A G 6: 6,042,264 (GRCm39) V638A probably benign Het
Snhg11 T C 2: 158,218,746 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,249,389 (GRCm39) Q800R probably benign Het
Srf C A 17: 46,860,912 (GRCm39) G401C probably damaging Het
Stradb A C 1: 59,030,264 (GRCm39) N173H probably benign Het
Swap70 C T 7: 109,878,470 (GRCm39) A480V possibly damaging Het
Sycp2 A G 2: 178,023,750 (GRCm39) V422A probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tet3 T C 6: 83,381,361 (GRCm39) N269S possibly damaging Het
Thap12 A T 7: 98,366,045 (GRCm39) I738F possibly damaging Het
Tmem229a A T 6: 24,955,010 (GRCm39) F248Y probably damaging Het
Tmprss7 G A 16: 45,504,956 (GRCm39) Q145* probably null Het
Tnc A T 4: 63,911,262 (GRCm39) probably null Het
Tonsl A T 15: 76,508,797 (GRCm39) Y21N probably damaging Het
Tpr A G 1: 150,297,414 (GRCm39) D1009G probably benign Het
Trpm2 G A 10: 77,776,992 (GRCm39) A435V probably damaging Het
Ubr3 T A 2: 69,783,820 (GRCm39) probably null Het
Vcan T C 13: 89,853,653 (GRCm39) N436D possibly damaging Het
Vmn2r104 T A 17: 20,261,031 (GRCm39) Y464F probably damaging Het
Vmn2r44 T A 7: 8,370,981 (GRCm39) R688S probably benign Het
Wdr74 G T 19: 8,715,311 (GRCm39) V157L probably benign Het
Wnt7a T A 6: 91,371,530 (GRCm39) D144V probably benign Het
Zfp106 C T 2: 120,362,162 (GRCm39) A986T possibly damaging 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
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'- TTGAGAACTGGGTGTGTACC -3'
(R):5'- ATGCACATCAAGCCTGGAG -3'

Sequencing Primer
(F):5'- CTGGTTTGTATGTATCTTAGGCACAC -3'
(R):5'- CAGAGGTGTGCTCTCAGTCACTAAG -3'
Posted On 2014-07-14