Incidental Mutation 'R9567:Tiam1'
ID 721719
Institutional Source Beutler Lab
Gene Symbol Tiam1
Ensembl Gene ENSMUSG00000002489
Gene Name T cell lymphoma invasion and metastasis 1
Synonyms D16Ium10, D16Ium10e
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9567 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 89583999-89940657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89591653 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1349 (D1349V)
Ref Sequence ENSEMBL: ENSMUSP00000002588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000144691] [ENSMUST00000163370] [ENSMUST00000164263]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002588
AA Change: D1349V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: D1349V

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
PH 434 549 1.32e-13 SMART
low complexity region 573 586 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
RBD 765 832 1.76e-22 SMART
PDZ 856 928 1.15e-5 SMART
low complexity region 1013 1028 N/A INTRINSIC
RhoGEF 1044 1233 1.42e-63 SMART
PH 1262 1397 9.58e-2 SMART
low complexity region 1445 1454 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114124
SMART Domains Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
PH 434 549 1.32e-13 SMART
low complexity region 573 586 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
RBD 765 832 1.76e-22 SMART
PDZ 856 928 1.15e-5 SMART
low complexity region 1013 1028 N/A INTRINSIC
RhoGEF 1044 1233 1.42e-63 SMART
PH 1262 1397 9.58e-2 SMART
low complexity region 1445 1454 N/A INTRINSIC
Predicted Effect
Predicted Effect probably damaging
Transcript: ENSMUST00000144691
AA Change: D4V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136283
Gene: ENSMUSG00000002489
AA Change: D4V

DomainStartEndE-ValueType
Blast:PH 1 52 2e-30 BLAST
SCOP:d1foea2 1 56 2e-30 SMART
PDB:1FOE|G 1 61 5e-37 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000163370
AA Change: D1349V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: D1349V

DomainStartEndE-ValueType
low complexity region 52 67 N/A INTRINSIC
low complexity region 178 189 N/A INTRINSIC
low complexity region 367 377 N/A INTRINSIC
PH 434 549 1.32e-13 SMART
low complexity region 573 586 N/A INTRINSIC
low complexity region 683 695 N/A INTRINSIC
RBD 765 832 1.76e-22 SMART
PDZ 856 928 1.15e-5 SMART
low complexity region 1013 1028 N/A INTRINSIC
RhoGEF 1044 1233 1.42e-63 SMART
PH 1262 1397 9.58e-2 SMART
low complexity region 1445 1454 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164263
AA Change: D380V

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: D380V

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
RhoGEF 75 264 1.42e-63 SMART
PH 293 428 9.58e-2 SMART
low complexity region 476 485 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik C T 13: 119,602,793 (GRCm39) P52S probably damaging Het
6820408C15Rik C A 2: 152,270,867 (GRCm39) P30Q probably damaging Het
Adam18 C T 8: 25,118,210 (GRCm39) V569I probably benign Het
Adnp2 A T 18: 80,174,133 (GRCm39) L92Q probably damaging Het
Ahi1 C T 10: 20,857,300 (GRCm39) H632Y possibly damaging Het
Akap9 A G 5: 4,127,311 (GRCm39) N3720D possibly damaging Het
Alpk3 T C 7: 80,742,687 (GRCm39) S835P possibly damaging Het
Amer3 C T 1: 34,627,836 (GRCm39) L692F probably benign Het
Anks6 T A 4: 47,044,880 (GRCm39) D342V unknown Het
Arap2 G T 5: 62,761,841 (GRCm39) F1628L probably benign Het
Arhgap21 T G 2: 20,896,953 (GRCm39) I108L possibly damaging Het
Cacna1h T C 17: 25,612,487 (GRCm39) I404V probably damaging Het
Cacna2d3 G T 14: 28,627,268 (GRCm39) A1077E probably benign Het
Cacng6 T C 7: 3,483,281 (GRCm39) V203A probably benign Het
Clec1b A T 6: 129,382,201 (GRCm39) D226V possibly damaging Het
Crb1 A C 1: 139,171,208 (GRCm39) S727R probably benign Het
Dars1 T C 1: 128,343,112 (GRCm39) I35V Het
Ddo T A 10: 40,523,913 (GRCm39) V301D probably damaging Het
Diablo C A 5: 123,662,196 (GRCm39) probably benign Het
Dipk1a T A 5: 108,057,368 (GRCm39) K397* probably null Het
Dnhd1 C A 7: 105,353,473 (GRCm39) H2875Q probably benign Het
E230025N22Rik A G 18: 36,820,336 (GRCm39) L282P Het
Ebna1bp2 A G 4: 118,478,190 (GRCm39) Q21R probably benign Het
Exoc7 C T 11: 116,195,724 (GRCm39) V93I probably benign Het
Foxk1 T A 5: 142,387,713 (GRCm39) Y145* probably null Het
Foxo3 C T 10: 42,073,021 (GRCm39) V499M probably damaging Het
Fsip2 C T 2: 82,798,173 (GRCm39) T489M probably benign Het
Gbf1 C T 19: 46,260,046 (GRCm39) T1067I Het
Ggta1 T A 2: 35,313,333 (GRCm39) T3S possibly damaging Het
Guf1 T A 5: 69,721,951 (GRCm39) V370E possibly damaging Het
Hmg20a A G 9: 56,384,472 (GRCm39) S81G probably benign Het
Igf2r G A 17: 12,905,641 (GRCm39) T2230I probably damaging Het
Ighmbp2 A T 19: 3,332,785 (GRCm39) M1K probably null Het
Klhdc9 T C 1: 171,187,914 (GRCm39) T106A probably benign Het
Kti12 T C 4: 108,705,935 (GRCm39) M283T possibly damaging Het
Lrig3 C T 10: 125,845,964 (GRCm39) P798S probably benign Het
Lrp8 T C 4: 107,711,469 (GRCm39) F333L probably damaging Het
Lyn T A 4: 3,746,757 (GRCm39) D178E probably benign Het
Magi1 G A 6: 93,655,431 (GRCm39) A1405V probably damaging Het
Magi1 A C 6: 93,659,931 (GRCm39) probably null Het
Mdga1 G A 17: 30,076,569 (GRCm39) P68S probably damaging Het
Mfsd8 T C 3: 40,793,933 (GRCm39) S25G probably benign Het
Mgat1 C A 11: 49,152,694 (GRCm39) S392R probably benign Het
Mtmr2 C T 9: 13,713,301 (GRCm39) Q493* probably null Het
Myocd A T 11: 65,078,410 (GRCm39) S462T probably damaging Het
Ndnf A G 6: 65,681,164 (GRCm39) Y481C probably damaging Het
Neb G T 2: 52,065,138 (GRCm39) R6258S probably damaging Het
Nlrp4c A G 7: 6,063,624 (GRCm39) M11V probably benign Het
Nup93 T C 8: 95,035,604 (GRCm39) S658P possibly damaging Het
Obox2 T A 7: 15,130,771 (GRCm39) M1K probably null Het
Or10ag55-ps1 T A 2: 87,115,037 (GRCm39) Y134* probably null Het
Or10g9 T A 9: 39,912,367 (GRCm39) H52L possibly damaging Het
Or1e20-ps1 G T 11: 73,324,789 (GRCm39) H88N unknown Het
Or51ag1 C T 7: 103,155,727 (GRCm39) R142H probably benign Het
Pcdh18 T A 3: 49,710,884 (GRCm39) I144F possibly damaging Het
Pcdhgb5 C T 18: 37,864,982 (GRCm39) T259I probably damaging Het
Pclo A G 5: 14,763,436 (GRCm39) T685A Het
Pecam1 T C 11: 106,588,121 (GRCm39) T139A possibly damaging Het
Pi15 T A 1: 17,695,178 (GRCm39) L265Q probably damaging Het
Pkd1l3 T A 8: 110,394,173 (GRCm39) F2053L probably damaging Het
Ppp1r36 A G 12: 76,485,900 (GRCm39) I353V probably benign Het
Ppp1r9a A G 6: 5,157,004 (GRCm39) S961G probably benign Het
Rbm42 T C 7: 30,345,395 (GRCm39) R151G possibly damaging Het
Rnf224 T C 2: 25,126,354 (GRCm39) probably benign Het
Scn2a C T 2: 65,518,974 (GRCm39) T400I probably damaging Het
Slc17a5 T A 9: 78,445,562 (GRCm39) Q457L possibly damaging Het
Slc5a4a A T 10: 76,022,396 (GRCm39) D577V probably benign Het
Stim2 A G 5: 54,232,707 (GRCm39) D123G probably damaging Het
Stxbp5l A G 16: 37,061,734 (GRCm39) F359L probably benign Het
Syne1 T C 10: 5,196,386 (GRCm39) D3882G possibly damaging Het
Synj1 G T 16: 90,790,912 (GRCm39) S83Y possibly damaging Het
Tfip11 C T 5: 112,479,029 (GRCm39) T199I probably damaging Het
Thoc2l T A 5: 104,669,644 (GRCm39) S1389T probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ucn3 T A 13: 3,991,313 (GRCm39) D113V probably damaging Het
Ugt3a1 A G 15: 9,306,370 (GRCm39) D173G possibly damaging Het
Uimc1 C A 13: 55,188,427 (GRCm39) R544L possibly damaging Het
Unc13c T C 9: 73,536,485 (GRCm39) S1623G probably damaging Het
Vmn2r41 T C 7: 8,141,391 (GRCm39) N691S probably benign Het
Wdr24 T A 17: 26,043,190 (GRCm39) M4K probably damaging Het
Wdr48 T C 9: 119,741,454 (GRCm39) F332L probably benign Het
Xpo7 A G 14: 70,903,466 (GRCm39) V1080A probably benign Het
Zc3h3 A T 15: 75,651,261 (GRCm39) I653N probably damaging Het
Zfp1005 A T 2: 150,109,517 (GRCm39) H69L possibly damaging Het
Zfp362 T A 4: 128,688,681 (GRCm39) M1L unknown Het
Zfp503 A G 14: 22,036,041 (GRCm39) C292R possibly damaging Het
Other mutations in Tiam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Tiam1 APN 16 89,591,627 (GRCm39) missense probably damaging 1.00
IGL01356:Tiam1 APN 16 89,634,676 (GRCm39) missense probably damaging 0.99
IGL01583:Tiam1 APN 16 89,586,168 (GRCm39) missense probably damaging 1.00
IGL01626:Tiam1 APN 16 89,609,856 (GRCm39) missense probably damaging 1.00
IGL01802:Tiam1 APN 16 89,695,260 (GRCm39) missense possibly damaging 0.94
IGL01818:Tiam1 APN 16 89,664,592 (GRCm39) missense probably damaging 1.00
IGL02146:Tiam1 APN 16 89,646,569 (GRCm39) missense probably benign 0.20
IGL02329:Tiam1 APN 16 89,596,924 (GRCm39) missense probably benign 0.08
IGL02341:Tiam1 APN 16 89,695,257 (GRCm39) missense probably damaging 1.00
IGL02622:Tiam1 APN 16 89,595,588 (GRCm39) missense possibly damaging 0.59
F5770:Tiam1 UTSW 16 89,662,159 (GRCm39) missense probably damaging 1.00
PIT4515001:Tiam1 UTSW 16 89,657,130 (GRCm39) missense probably damaging 0.99
R0130:Tiam1 UTSW 16 89,694,642 (GRCm39) missense probably benign 0.01
R0143:Tiam1 UTSW 16 89,695,088 (GRCm39) missense probably benign 0.01
R0158:Tiam1 UTSW 16 89,589,889 (GRCm39) critical splice donor site probably benign
R0413:Tiam1 UTSW 16 89,606,253 (GRCm39) splice site probably benign
R0449:Tiam1 UTSW 16 89,634,715 (GRCm39) missense possibly damaging 0.75
R0520:Tiam1 UTSW 16 89,614,839 (GRCm39) splice site probably benign
R0667:Tiam1 UTSW 16 89,694,872 (GRCm39) missense probably damaging 1.00
R0787:Tiam1 UTSW 16 89,586,449 (GRCm39) missense probably damaging 1.00
R1355:Tiam1 UTSW 16 89,695,109 (GRCm39) missense probably benign 0.09
R1370:Tiam1 UTSW 16 89,695,109 (GRCm39) missense probably benign 0.09
R1534:Tiam1 UTSW 16 89,664,396 (GRCm39) critical splice donor site probably null
R1769:Tiam1 UTSW 16 89,657,167 (GRCm39) missense probably damaging 1.00
R1831:Tiam1 UTSW 16 89,657,182 (GRCm39) missense probably benign 0.01
R1913:Tiam1 UTSW 16 89,595,582 (GRCm39) missense probably damaging 1.00
R2022:Tiam1 UTSW 16 89,674,075 (GRCm39) missense probably benign
R2140:Tiam1 UTSW 16 89,646,533 (GRCm39) splice site probably benign
R2383:Tiam1 UTSW 16 89,595,572 (GRCm39) missense probably benign 0.29
R2697:Tiam1 UTSW 16 89,590,052 (GRCm39) missense probably benign 0.00
R4118:Tiam1 UTSW 16 89,673,921 (GRCm39) splice site probably null
R4327:Tiam1 UTSW 16 89,652,779 (GRCm39) missense possibly damaging 0.80
R4693:Tiam1 UTSW 16 89,640,170 (GRCm39) missense possibly damaging 0.87
R5104:Tiam1 UTSW 16 89,614,929 (GRCm39) missense probably benign 0.00
R5412:Tiam1 UTSW 16 89,681,753 (GRCm39) missense possibly damaging 0.52
R5426:Tiam1 UTSW 16 89,662,280 (GRCm39) missense possibly damaging 0.58
R5600:Tiam1 UTSW 16 89,662,253 (GRCm39) missense probably damaging 1.00
R5842:Tiam1 UTSW 16 89,652,887 (GRCm39) missense probably benign
R5986:Tiam1 UTSW 16 89,586,074 (GRCm39) missense probably benign 0.31
R6077:Tiam1 UTSW 16 89,594,918 (GRCm39) critical splice donor site probably null
R6419:Tiam1 UTSW 16 89,694,912 (GRCm39) nonsense probably null
R6525:Tiam1 UTSW 16 89,655,485 (GRCm39) critical splice donor site probably null
R6950:Tiam1 UTSW 16 89,657,092 (GRCm39) critical splice donor site probably null
R7127:Tiam1 UTSW 16 89,657,148 (GRCm39) missense probably damaging 1.00
R7197:Tiam1 UTSW 16 89,681,826 (GRCm39) missense probably damaging 1.00
R7249:Tiam1 UTSW 16 89,640,143 (GRCm39) missense probably damaging 1.00
R7490:Tiam1 UTSW 16 89,695,083 (GRCm39) missense probably benign 0.01
R7825:Tiam1 UTSW 16 89,694,977 (GRCm39) missense probably benign 0.07
R8047:Tiam1 UTSW 16 89,694,672 (GRCm39) missense probably benign 0.00
R8069:Tiam1 UTSW 16 89,586,146 (GRCm39) missense probably benign
R8247:Tiam1 UTSW 16 89,695,037 (GRCm39) missense probably benign 0.26
R8490:Tiam1 UTSW 16 89,681,932 (GRCm39) missense probably damaging 0.99
R8678:Tiam1 UTSW 16 89,681,709 (GRCm39) nonsense probably null
R8690:Tiam1 UTSW 16 89,694,900 (GRCm39) missense probably damaging 1.00
R8839:Tiam1 UTSW 16 89,681,827 (GRCm39) missense probably damaging 1.00
R8857:Tiam1 UTSW 16 89,662,145 (GRCm39) missense probably damaging 0.97
R8935:Tiam1 UTSW 16 89,681,821 (GRCm39) missense probably damaging 1.00
R8972:Tiam1 UTSW 16 89,609,894 (GRCm39) missense probably damaging 1.00
R9047:Tiam1 UTSW 16 89,601,776 (GRCm39) intron probably benign
R9131:Tiam1 UTSW 16 89,657,155 (GRCm39) missense probably damaging 1.00
R9229:Tiam1 UTSW 16 89,634,719 (GRCm39) missense possibly damaging 0.94
R9383:Tiam1 UTSW 16 89,655,561 (GRCm39) missense probably damaging 1.00
R9431:Tiam1 UTSW 16 89,594,918 (GRCm39) critical splice donor site probably null
R9519:Tiam1 UTSW 16 89,608,822 (GRCm39) missense probably benign 0.06
R9656:Tiam1 UTSW 16 89,664,459 (GRCm39) missense probably damaging 1.00
R9714:Tiam1 UTSW 16 89,694,647 (GRCm39) missense probably benign 0.00
R9750:Tiam1 UTSW 16 89,695,394 (GRCm39) missense probably damaging 1.00
V7582:Tiam1 UTSW 16 89,662,159 (GRCm39) missense probably damaging 1.00
Z1176:Tiam1 UTSW 16 89,662,163 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACACAGCTACAGTTCGTTGGC -3'
(R):5'- TCTTCACAGCACACACTGAG -3'

Sequencing Primer
(F):5'- GGCAAGTATTAACTTCTCTGAGAGG -3'
(R):5'- CTGTCTTAAGCAGACACC -3'
Posted On 2022-08-09