Incidental Mutation 'R7127:Tiam1'
ID 552422
Institutional Source Beutler Lab
Gene Symbol Tiam1
Ensembl Gene ENSMUSG00000002489
Gene Name T cell lymphoma invasion and metastasis 1
Synonyms D16Ium10, D16Ium10e
MMRRC Submission 045246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7127 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 89583999-89940657 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89657148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 696 (L696H)
Ref Sequence ENSEMBL: ENSMUSP00000002588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000163370]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002588
AA Change: L696H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: L696H

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: L696H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: L696H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 C T 7: 119,931,825 (GRCm39) T26I probably benign Het
Adam5 A T 8: 25,300,797 (GRCm39) I244N probably damaging Het
Adam7 A G 14: 68,752,218 (GRCm39) probably null Het
Aox4 T A 1: 58,268,033 (GRCm39) N204K probably benign Het
Arl13b C T 16: 62,622,102 (GRCm39) G397D probably damaging Het
AU041133 T C 10: 81,986,700 (GRCm39) F118L probably benign Het
Brinp1 C T 4: 68,711,260 (GRCm39) R316H probably benign Het
Cabcoco1 C T 10: 68,272,160 (GRCm39) V268I probably benign Het
Car15 T C 16: 17,656,060 (GRCm39) probably benign Het
Ccdc185 G T 1: 182,576,421 (GRCm39) D89E possibly damaging Het
Cckar T A 5: 53,863,817 (GRCm39) Y48F probably damaging Het
Cdyl T A 13: 36,040,651 (GRCm39) S282T probably benign Het
Clca3a1 T C 3: 144,711,806 (GRCm39) T730A probably damaging Het
Cracr2b T C 7: 141,045,695 (GRCm39) S318P possibly damaging Het
Depdc1b T C 13: 108,460,462 (GRCm39) F24S probably damaging Het
Duox2 C T 2: 122,122,430 (GRCm39) G565D probably benign Het
Ehbp1 A T 11: 22,003,529 (GRCm39) Y1073* probably null Het
Epg5 A T 18: 78,072,140 (GRCm39) N2384I probably damaging Het
Fam171b A G 2: 83,710,110 (GRCm39) D594G probably benign Het
Flad1 A G 3: 89,310,725 (GRCm39) Y441H probably damaging Het
Fn1 T C 1: 71,636,703 (GRCm39) T2150A probably benign Het
Fnta C A 8: 26,497,231 (GRCm39) R206L probably damaging Het
Gadd45b A T 10: 80,766,999 (GRCm39) M95L probably benign Het
Gbp8 A T 5: 105,165,578 (GRCm39) H358Q probably benign Het
Glipr1l3 C A 10: 111,983,995 (GRCm39) G157V probably damaging Het
Hoxc13 T C 15: 102,829,903 (GRCm39) I94T possibly damaging Het
Hunk A G 16: 90,272,779 (GRCm39) D361G probably damaging Het
Igkv3-4 T A 6: 70,649,155 (GRCm39) Y51* probably null Het
Kif26a C T 12: 112,144,579 (GRCm39) P1611L probably damaging Het
Lamb1 T C 12: 31,374,314 (GRCm39) L1559P probably damaging Het
Lrrc8d T C 5: 105,960,829 (GRCm39) V413A probably damaging Het
Med6 C T 12: 81,635,774 (GRCm39) R86Q probably damaging Het
Myrf A T 19: 10,192,705 (GRCm39) S605T probably benign Het
Or6c66b T A 10: 129,376,936 (GRCm39) C177S probably damaging Het
Plk3 A T 4: 116,987,767 (GRCm39) V429E probably benign Het
Plrg1 C T 3: 82,967,222 (GRCm39) P131L probably damaging Het
Plscr4 C T 9: 92,372,831 (GRCm39) R318* probably null Het
Rab34 A T 11: 78,082,056 (GRCm39) K152* probably null Het
Rasef A T 4: 73,662,369 (GRCm39) S194T probably damaging Het
Rcc1 A G 4: 132,062,107 (GRCm39) S269P probably damaging Het
Resf1 T C 6: 149,229,443 (GRCm39) F830L possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,121 (GRCm39) probably benign Het
Ryr2 C T 13: 11,670,599 (GRCm39) V3466M probably damaging Het
Scin A G 12: 40,155,071 (GRCm39) I174T possibly damaging Het
Serpinb8 A G 1: 107,525,200 (GRCm39) M1V probably null Het
Smok3c A T 5: 138,062,971 (GRCm39) I153F probably damaging Het
Spen G A 4: 141,203,419 (GRCm39) S1736L possibly damaging Het
Sspo T A 6: 48,426,446 (GRCm39) M155K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sun2 T C 15: 79,612,100 (GRCm39) I528M probably benign Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Taok2 G T 7: 126,466,326 (GRCm39) A831E possibly damaging Het
Tas2r126 T C 6: 42,411,739 (GRCm39) F91L probably damaging Het
Tas2r140 A G 6: 133,031,922 (GRCm39) S279P possibly damaging Het
Trank1 T G 9: 111,194,864 (GRCm39) S963A possibly damaging Het
Trf A G 9: 103,102,326 (GRCm39) V184A probably benign Het
Ttll13 T A 7: 79,903,406 (GRCm39) M231K possibly damaging Het
Tuba1a T G 15: 98,849,455 (GRCm39) T41P probably benign Het
Zfhx4 A G 3: 5,478,104 (GRCm39) Q3573R probably damaging Het
Zfp141 G A 7: 42,124,853 (GRCm39) H540Y 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
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
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'- ATGGCAGAGCTCAGTGTTTG -3'
(R):5'- CGTCACTCACTGCTTTGAACAC -3'

Sequencing Primer
(F):5'- AGTGTCAGTAAAGACCCATGC -3'
(R):5'- ACTCACTGCTTTGAACACTAGGG -3'
Posted On 2019-05-15