Incidental Mutation 'R5426:Tiam1'
ID 426922
Institutional Source Beutler Lab
Gene Symbol Tiam1
Ensembl Gene ENSMUSG00000002489
Gene Name T cell lymphoma invasion and metastasis 1
Synonyms D16Ium10e, D16Ium10
MMRRC Submission 042992-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5426 (G1)
Quality Score 133
Status Validated
Chromosome 16
Chromosomal Location 89787111-90143769 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89865392 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 613 (Q613K)
Ref Sequence ENSEMBL: ENSMUSP00000132137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000163370]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000002588
AA Change: Q613K

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: Q613K

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: ENSMUST00000114124
AA Change: Q613K

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: Q613K

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: ENSMUST00000163370
AA Change: Q613K

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: Q613K

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
Meta Mutation Damage Score 0.1044 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 97% (85/88)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T A 9: 124,294,003 (GRCm38) H122L probably damaging Het
9330182O14Rik G A 15: 40,148,537 (GRCm38) D91N unknown Het
9330182O14Rik G A 15: 40,148,536 (GRCm38) M90I unknown Het
Abca13 T A 11: 9,290,722 (GRCm38) S862T probably damaging Het
Acyp2 C T 11: 30,506,354 (GRCm38) E98K possibly damaging Het
Adgb C A 10: 10,350,260 (GRCm38) A1405S probably benign Het
Adpgk T A 9: 59,297,549 (GRCm38) V86E probably damaging Het
Agfg2 G C 5: 137,667,758 (GRCm38) P80A probably damaging Het
Akap11 G A 14: 78,498,864 (GRCm38) Q1829* probably null Het
Aldh1l1 G A 6: 90,559,299 (GRCm38) R62Q probably benign Het
Amd1 G T 10: 40,290,187 (GRCm38) D265E probably damaging Het
Aox4 A T 1: 58,220,094 (GRCm38) Q106L probably damaging Het
Arap2 A T 5: 62,642,816 (GRCm38) N1289K probably benign Het
Arhgef12 T C 9: 42,986,584 (GRCm38) S874G probably damaging Het
Ccdc166 T C 15: 75,982,096 (GRCm38) Q45R possibly damaging Het
Cdc45 C T 16: 18,795,897 (GRCm38) R205H probably damaging Het
Cdk14 A G 5: 4,888,975 (GRCm38) S388P possibly damaging Het
Chgb A T 2: 132,793,533 (GRCm38) Q465L possibly damaging Het
Commd9 T A 2: 101,898,875 (GRCm38) W109R probably damaging Het
Cspg4b G A 13: 113,369,053 (GRCm38) V2239I probably benign Het
Cyp2b9 T C 7: 26,187,655 (GRCm38) V163A probably benign Het
Dcpp2 T A 17: 23,899,313 (GRCm38) H27Q possibly damaging Het
Ddn T A 15: 98,806,466 (GRCm38) E315V possibly damaging Het
Defb29 C A 2: 152,538,948 (GRCm38) C47F probably damaging Het
Dnah7b T C 1: 46,242,206 (GRCm38) M2809T possibly damaging Het
Dock4 A T 12: 40,745,745 (GRCm38) I854F probably damaging Het
Dsg4 T C 18: 20,458,484 (GRCm38) Y427H probably damaging Het
E130114P18Rik C T 4: 97,690,670 (GRCm38) A23T unknown Het
Flacc1 T A 1: 58,666,886 (GRCm38) K275* probably null Het
Gemin5 A G 11: 58,125,287 (GRCm38) S1297P probably benign Het
Gm10309 A C 17: 86,498,733 (GRCm38) probably benign Het
Gpatch11 T A 17: 78,841,234 (GRCm38) S155R possibly damaging Het
Grin2b C A 6: 135,732,368 (GRCm38) Q1393H probably damaging Het
Heatr5b C T 17: 78,773,713 (GRCm38) C1370Y probably damaging Het
Hmcn2 C T 2: 31,336,544 (GRCm38) T177I possibly damaging Het
Ildr1 A T 16: 36,709,619 (GRCm38) I123F probably damaging Het
Kalrn A T 16: 34,262,653 (GRCm38) V644D probably damaging Het
Kifap3 A G 1: 163,779,871 (GRCm38) M1V probably null Het
Klhl11 A G 11: 100,464,116 (GRCm38) L293P probably damaging Het
Klrc3 G A 6: 129,641,550 (GRCm38) S98L probably benign Het
Lrrc37 A T 11: 103,620,760 (GRCm38) H127Q unknown Het
Med12l G A 3: 59,248,722 (GRCm38) M1220I probably damaging Het
Ms4a7 C T 19: 11,325,802 (GRCm38) probably null Het
Mybpc2 A G 7: 44,509,829 (GRCm38) V599A probably benign Het
Naalad2 T C 9: 18,347,519 (GRCm38) N487D probably benign Het
Nat8f7 T G 6: 85,707,823 (GRCm38) S12R probably benign Het
Nefm T A 14: 68,120,066 (GRCm38) probably benign Het
Nlrp5 T C 7: 23,418,201 (GRCm38) V450A probably damaging Het
Nps G A 7: 135,268,647 (GRCm38) probably null Het
Or13c7d A G 4: 43,770,168 (GRCm38) I281T probably benign Het
Or2ag16 C A 7: 106,752,566 (GRCm38) S274I probably benign Het
Or4a74 T C 2: 89,609,739 (GRCm38) Y121C probably damaging Het
Or4b13 T A 2: 90,252,611 (GRCm38) K126* probably null Het
Or5e1 T C 7: 108,755,717 (GRCm38) L287P possibly damaging Het
Or5h24 G T 16: 59,098,302 (GRCm38) P230Q possibly damaging Het
Or5p67 T C 7: 108,322,810 (GRCm38) N289D probably damaging Het
Oxct2a C A 4: 123,322,713 (GRCm38) G292W possibly damaging Het
Pramel32 T A 4: 88,629,410 (GRCm38) probably benign Het
Prr27 T C 5: 87,850,885 (GRCm38) probably benign Het
Ptx3 T C 3: 66,220,722 (GRCm38) M68T probably damaging Het
Rufy1 A G 11: 50,421,734 (GRCm38) L131S probably damaging Het
Septin7 T A 9: 25,286,690 (GRCm38) I100N possibly damaging Het
Sgms2 T C 3: 131,341,797 (GRCm38) I143V probably benign Het
Slc25a34 A G 4: 141,623,566 (GRCm38) V44A probably damaging Het
Slc28a3 T A 13: 58,563,154 (GRCm38) D518V probably damaging Het
Slc6a7 C T 18: 61,003,236 (GRCm38) probably null Het
Slco4a1 C A 2: 180,471,235 (GRCm38) A420D possibly damaging Het
Smap1 T C 1: 23,849,390 (GRCm38) T180A probably benign Het
Specc1l T C 10: 75,267,550 (GRCm38) S920P probably benign Het
Tgtp2 A G 11: 49,059,256 (GRCm38) M163T probably benign Het
Vsig10l T A 7: 43,464,823 (GRCm38) S190T probably damaging Het
Vwa3b A G 1: 37,115,671 (GRCm38) Y512C probably damaging Het
Wdfy3 T A 5: 101,919,446 (GRCm38) N1207Y probably damaging Het
Wdr17 C T 8: 54,681,399 (GRCm38) G349R probably damaging Het
Wdr70 A G 15: 7,922,105 (GRCm38) L417S possibly damaging Het
Wdr81 A C 11: 75,450,896 (GRCm38) S1182A possibly damaging Het
Zfp458 A T 13: 67,257,192 (GRCm38) C391* probably null Het
Zfp638 A G 6: 83,976,414 (GRCm38) E1167G probably damaging Het
Zfp763 T A 17: 33,019,595 (GRCm38) D192V probably benign Het
Zfp853 T G 5: 143,288,869 (GRCm38) Q332P unknown Het
Other mutations in Tiam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Tiam1 APN 16 89,794,739 (GRCm38) missense probably damaging 1.00
IGL01356:Tiam1 APN 16 89,837,788 (GRCm38) missense probably damaging 0.99
IGL01583:Tiam1 APN 16 89,789,280 (GRCm38) missense probably damaging 1.00
IGL01626:Tiam1 APN 16 89,812,968 (GRCm38) missense probably damaging 1.00
IGL01802:Tiam1 APN 16 89,898,372 (GRCm38) missense possibly damaging 0.94
IGL01818:Tiam1 APN 16 89,867,704 (GRCm38) missense probably damaging 1.00
IGL02146:Tiam1 APN 16 89,849,681 (GRCm38) missense probably benign 0.20
IGL02329:Tiam1 APN 16 89,800,036 (GRCm38) missense probably benign 0.08
IGL02341:Tiam1 APN 16 89,898,369 (GRCm38) missense probably damaging 1.00
IGL02622:Tiam1 APN 16 89,798,700 (GRCm38) missense possibly damaging 0.59
F5770:Tiam1 UTSW 16 89,865,271 (GRCm38) missense probably damaging 1.00
PIT4515001:Tiam1 UTSW 16 89,860,242 (GRCm38) missense probably damaging 0.99
R0130:Tiam1 UTSW 16 89,897,754 (GRCm38) missense probably benign 0.01
R0143:Tiam1 UTSW 16 89,898,200 (GRCm38) missense probably benign 0.01
R0158:Tiam1 UTSW 16 89,793,001 (GRCm38) critical splice donor site probably benign
R0413:Tiam1 UTSW 16 89,809,365 (GRCm38) splice site probably benign
R0449:Tiam1 UTSW 16 89,837,827 (GRCm38) missense possibly damaging 0.75
R0520:Tiam1 UTSW 16 89,817,951 (GRCm38) splice site probably benign
R0667:Tiam1 UTSW 16 89,897,984 (GRCm38) missense probably damaging 1.00
R0787:Tiam1 UTSW 16 89,789,561 (GRCm38) missense probably damaging 1.00
R1355:Tiam1 UTSW 16 89,898,221 (GRCm38) missense probably benign 0.09
R1370:Tiam1 UTSW 16 89,898,221 (GRCm38) missense probably benign 0.09
R1534:Tiam1 UTSW 16 89,867,508 (GRCm38) critical splice donor site probably null
R1769:Tiam1 UTSW 16 89,860,279 (GRCm38) missense probably damaging 1.00
R1831:Tiam1 UTSW 16 89,860,294 (GRCm38) missense probably benign 0.01
R1913:Tiam1 UTSW 16 89,798,694 (GRCm38) missense probably damaging 1.00
R2022:Tiam1 UTSW 16 89,877,187 (GRCm38) missense probably benign
R2140:Tiam1 UTSW 16 89,849,645 (GRCm38) splice site probably benign
R2383:Tiam1 UTSW 16 89,798,684 (GRCm38) missense probably benign 0.29
R2697:Tiam1 UTSW 16 89,793,164 (GRCm38) missense probably benign 0.00
R4118:Tiam1 UTSW 16 89,877,033 (GRCm38) splice site probably null
R4327:Tiam1 UTSW 16 89,855,891 (GRCm38) missense possibly damaging 0.80
R4693:Tiam1 UTSW 16 89,843,282 (GRCm38) missense possibly damaging 0.87
R5104:Tiam1 UTSW 16 89,818,041 (GRCm38) missense probably benign 0.00
R5412:Tiam1 UTSW 16 89,884,865 (GRCm38) missense possibly damaging 0.52
R5600:Tiam1 UTSW 16 89,865,365 (GRCm38) missense probably damaging 1.00
R5842:Tiam1 UTSW 16 89,855,999 (GRCm38) missense probably benign
R5986:Tiam1 UTSW 16 89,789,186 (GRCm38) missense probably benign 0.31
R6077:Tiam1 UTSW 16 89,798,030 (GRCm38) critical splice donor site probably null
R6419:Tiam1 UTSW 16 89,898,024 (GRCm38) nonsense probably null
R6525:Tiam1 UTSW 16 89,858,597 (GRCm38) critical splice donor site probably null
R6950:Tiam1 UTSW 16 89,860,204 (GRCm38) critical splice donor site probably null
R7127:Tiam1 UTSW 16 89,860,260 (GRCm38) missense probably damaging 1.00
R7197:Tiam1 UTSW 16 89,884,938 (GRCm38) missense probably damaging 1.00
R7249:Tiam1 UTSW 16 89,843,255 (GRCm38) missense probably damaging 1.00
R7490:Tiam1 UTSW 16 89,898,195 (GRCm38) missense probably benign 0.01
R7825:Tiam1 UTSW 16 89,898,089 (GRCm38) missense probably benign 0.07
R8047:Tiam1 UTSW 16 89,897,784 (GRCm38) missense probably benign 0.00
R8069:Tiam1 UTSW 16 89,789,258 (GRCm38) missense probably benign
R8247:Tiam1 UTSW 16 89,898,149 (GRCm38) missense probably benign 0.26
R8490:Tiam1 UTSW 16 89,885,044 (GRCm38) missense probably damaging 0.99
R8678:Tiam1 UTSW 16 89,884,821 (GRCm38) nonsense probably null
R8690:Tiam1 UTSW 16 89,898,012 (GRCm38) missense probably damaging 1.00
R8839:Tiam1 UTSW 16 89,884,939 (GRCm38) missense probably damaging 1.00
R8857:Tiam1 UTSW 16 89,865,257 (GRCm38) missense probably damaging 0.97
R8935:Tiam1 UTSW 16 89,884,933 (GRCm38) missense probably damaging 1.00
R8972:Tiam1 UTSW 16 89,813,006 (GRCm38) missense probably damaging 1.00
R9047:Tiam1 UTSW 16 89,804,888 (GRCm38) intron probably benign
R9131:Tiam1 UTSW 16 89,860,267 (GRCm38) missense probably damaging 1.00
R9229:Tiam1 UTSW 16 89,837,831 (GRCm38) missense possibly damaging 0.94
R9383:Tiam1 UTSW 16 89,858,673 (GRCm38) missense probably damaging 1.00
R9431:Tiam1 UTSW 16 89,798,030 (GRCm38) critical splice donor site probably null
R9519:Tiam1 UTSW 16 89,811,934 (GRCm38) missense probably benign 0.06
R9567:Tiam1 UTSW 16 89,794,765 (GRCm38) missense probably damaging 1.00
R9656:Tiam1 UTSW 16 89,867,571 (GRCm38) missense probably damaging 1.00
R9714:Tiam1 UTSW 16 89,897,759 (GRCm38) missense probably benign 0.00
R9750:Tiam1 UTSW 16 89,898,506 (GRCm38) missense probably damaging 1.00
V7582:Tiam1 UTSW 16 89,865,271 (GRCm38) missense probably damaging 1.00
Z1176:Tiam1 UTSW 16 89,865,275 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAAAGTCACTTGCTTCTACTCAC -3'
(R):5'- TGTAAACAAGAGCGCATGCAC -3'

Sequencing Primer
(F):5'- GCTTCTACTCACCAGGGCATG -3'
(R):5'- AAGGCTCTTGGAGAAGAC -3'
Posted On 2016-09-01