Incidental Mutation 'R8972:Tiam1'
ID 683206
Institutional Source Beutler Lab
Gene Symbol Tiam1
Ensembl Gene ENSMUSG00000002489
Gene Name T cell lymphoma invasion and metastasis 1
Synonyms D16Ium10, D16Ium10e
MMRRC Submission 068806-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8972 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 89583999-89940657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 89609894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 1038 (A1038V)
Ref Sequence ENSEMBL: ENSMUSP00000002588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000163370] [ENSMUST00000164263]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002588
AA Change: A1038V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: A1038V

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 probably damaging
Transcript: ENSMUST00000163370
AA Change: A1038V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: A1038V

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 damaging
Transcript: ENSMUST00000164263
AA Change: A69V

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: A69V

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
Meta Mutation Damage Score 0.1607 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (70/71)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,278,138 (GRCm39) S3106F probably damaging Het
Acss1 G T 2: 150,484,809 (GRCm39) R145S probably damaging Het
Acss3 T C 10: 106,920,783 (GRCm39) Y109C probably damaging Het
Adgre4 G T 17: 56,109,189 (GRCm39) G399C probably damaging Het
Alpk1 A G 3: 127,473,232 (GRCm39) S924P probably damaging Het
Anapc4 T A 5: 53,007,884 (GRCm39) D382E possibly damaging Het
Arfgef2 C T 2: 166,709,253 (GRCm39) A1110V possibly damaging Het
Arhgap20 T C 9: 51,760,311 (GRCm39) F721L probably benign Het
Arhgef39 T C 4: 43,497,185 (GRCm39) S269G probably benign Het
Asap2 C T 12: 21,279,249 (GRCm39) T377M probably damaging Het
Baiap3 G T 17: 25,466,010 (GRCm39) A558E probably benign Het
Birc6 A C 17: 75,009,313 (GRCm39) T4862P probably benign Het
Cc2d2a A G 5: 43,867,884 (GRCm39) T843A probably benign Het
Ccdc187 A T 2: 26,171,079 (GRCm39) D466E probably benign Het
Ccdc88a T G 11: 29,435,888 (GRCm39) N1270K probably benign Het
Cep250 C T 2: 155,812,042 (GRCm39) A446V unknown Het
Cntn1 T G 15: 92,150,278 (GRCm39) Y371D probably benign Het
Cpsf1 T C 15: 76,481,528 (GRCm39) D1141G probably damaging Het
Crebbp C T 16: 3,925,935 (GRCm39) V1193I probably benign Het
Csf2ra A T 19: 61,213,597 (GRCm39) S371T probably null Het
Csf2rb2 T C 15: 78,172,115 (GRCm39) N432D probably benign Het
Cul9 A T 17: 46,854,177 (GRCm39) L175Q probably damaging Het
Dlc1 T A 8: 37,405,394 (GRCm39) R132* probably null Het
Dock5 C A 14: 68,013,749 (GRCm39) L1324F probably damaging Het
Dop1a T C 9: 86,403,300 (GRCm39) V36A possibly damaging Het
Fap A G 2: 62,378,927 (GRCm39) V158A probably benign Het
G2e3 T A 12: 51,410,277 (GRCm39) S319T possibly damaging Het
Gatd3a T C 10: 78,003,323 (GRCm39) I110V possibly damaging Het
Gphn T C 12: 78,656,013 (GRCm39) probably null Het
Gucy2g A G 19: 55,226,406 (GRCm39) I170T probably benign Het
Hmgxb4 T A 8: 75,748,466 (GRCm39) W438R probably damaging Het
Igkv14-126 G T 6: 67,873,329 (GRCm39) G19V probably damaging Het
Kansl1l C T 1: 66,812,101 (GRCm39) C506Y probably damaging Het
Kif2a T C 13: 107,115,543 (GRCm39) T321A probably damaging Het
Krtap6-5 C T 16: 88,844,607 (GRCm39) R42H unknown Het
Map4 T A 9: 109,864,185 (GRCm39) M470K probably benign Het
Mill1 T C 7: 17,996,982 (GRCm39) V191A probably benign Het
Mki67 C A 7: 135,297,364 (GRCm39) A2557S possibly damaging Het
Mkln1 A T 6: 31,473,681 (GRCm39) H669L probably damaging Het
Mrgprb3 A T 7: 48,293,422 (GRCm39) V43E possibly damaging Het
Mucl2 T A 15: 103,927,860 (GRCm39) probably null Het
Mybbp1a T A 11: 72,337,076 (GRCm39) I604N probably benign Het
Myo18b T C 5: 112,841,164 (GRCm39) T2210A probably benign Het
Nlrp4f T C 13: 65,330,749 (GRCm39) I881M probably benign Het
Obscn C A 11: 58,943,442 (GRCm39) A4236S probably benign Het
Or13a23-ps1 A T 7: 140,119,038 (GRCm39) M203L unknown Het
Or4a67 A C 2: 88,598,630 (GRCm39) F10V possibly damaging Het
Or8d1 A G 9: 38,767,254 (GRCm39) K299E probably damaging Het
Or8d2b G A 9: 38,789,150 (GRCm39) R226H probably benign Het
Phc3 T A 3: 31,015,926 (GRCm39) Q83L possibly damaging Het
Pira2 T C 7: 3,845,070 (GRCm39) Y396C probably damaging Het
Prss3 T A 6: 41,353,872 (GRCm39) I24F probably damaging Het
Psg21 T C 7: 18,381,293 (GRCm39) N417D probably benign Het
Ros1 G T 10: 51,999,333 (GRCm39) R1206S probably benign Het
Smg9 A T 7: 24,120,055 (GRCm39) Q386L probably benign Het
Sncb T A 13: 54,907,772 (GRCm39) probably null Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sorl1 T A 9: 41,957,848 (GRCm39) I599F probably damaging Het
Sox6 C A 7: 115,076,218 (GRCm39) E807* probably null Het
Ssu2 G A 6: 112,360,898 (GRCm39) A53V probably benign Het
Tas2r123 T C 6: 132,824,333 (GRCm39) C77R probably benign Het
Tcta T C 9: 108,181,333 (GRCm39) R117G unknown Het
Tram2 A T 1: 21,074,273 (GRCm39) probably benign Het
Tsku C A 7: 98,001,704 (GRCm39) R209L probably damaging Het
Twnk T C 19: 45,000,149 (GRCm39) F622L probably damaging Het
Ube2t C T 1: 134,899,670 (GRCm39) T106I probably damaging Het
Usf1 C T 1: 171,245,352 (GRCm39) R255W probably damaging Het
Usp28 T A 9: 48,949,124 (GRCm39) L906Q probably null Het
Vmn2r31 T A 7: 7,399,654 (GRCm39) Y101F probably benign Het
Vmn2r42 A G 7: 8,187,331 (GRCm39) S814P probably damaging Het
Wnt2b T C 3: 104,858,475 (GRCm39) R265G possibly damaging Het
Zfp62 T G 11: 49,106,892 (GRCm39) S328A possibly damaging Het
Zfp974 T C 7: 27,610,589 (GRCm39) I379V probably benign Het
Zmynd15 T C 11: 70,355,065 (GRCm39) V484A possibly damaging Het
Zzef1 T C 11: 72,791,499 (GRCm39) L2201P probably 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
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
R9567:Tiam1 UTSW 16 89,591,653 (GRCm39) missense probably damaging 1.00
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'- AGGTTTACACCCAGGCAATG -3'
(R):5'- TAATATAATAGTGTGTCCGAGGGG -3'

Sequencing Primer
(F):5'- GCAATGGCCCCCTTCAC -3'
(R):5'- TACATTGAAAAATGCCTTGTGAGGG -3'
Posted On 2021-10-11