Incidental Mutation 'IGL02329:Tiam1'
ID288616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tiam1
Ensembl Gene ENSMUSG00000002489
Gene NameT cell lymphoma invasion and metastasis 1
SynonymsD16Ium10e, D16Ium10
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02329
Quality Score
Status
Chromosome16
Chromosomal Location89787111-90143769 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 89800036 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 301 (H301N)
Ref Sequence ENSEMBL: ENSMUSP00000126020 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114122] [ENSMUST00000114124] [ENSMUST00000144691] [ENSMUST00000163370] [ENSMUST00000164263]
Predicted Effect probably benign
Transcript: ENSMUST00000002588
AA Change: H1270N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: H1270N

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 noncoding transcript
Transcript: ENSMUST00000089084
Predicted Effect noncoding transcript
Transcript: ENSMUST00000114122
SMART Domains Protein: ENSMUSP00000109757
Gene: ENSMUSG00000002489

DomainStartEndE-ValueType
PDZ 44 116 1.15e-5 SMART
low complexity region 201 216 N/A INTRINSIC
RhoGEF 232 421 1.42e-63 SMART
PH 450 585 9.58e-2 SMART
low complexity region 633 642 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 benign
Transcript: ENSMUST00000134021
Predicted Effect probably benign
Transcript: ENSMUST00000144691
SMART Domains Protein: ENSMUSP00000136283
Gene: ENSMUSG00000002489

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 benign
Transcript: ENSMUST00000163370
AA Change: H1270N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: H1270N

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: ENSMUST00000164263
AA Change: H301N

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: H301N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000178095
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Drc3 T C 11: 60,370,578 L185P probably damaging Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in Tiam1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00929:Tiam1 APN 16 89794739 missense probably damaging 1.00
IGL01356:Tiam1 APN 16 89837788 missense probably damaging 0.99
IGL01583:Tiam1 APN 16 89789280 missense probably damaging 1.00
IGL01626:Tiam1 APN 16 89812968 missense probably damaging 1.00
IGL01802:Tiam1 APN 16 89898372 missense possibly damaging 0.94
IGL01818:Tiam1 APN 16 89867704 missense probably damaging 1.00
IGL02146:Tiam1 APN 16 89849681 missense probably benign 0.20
IGL02341:Tiam1 APN 16 89898369 missense probably damaging 1.00
IGL02622:Tiam1 APN 16 89798700 missense possibly damaging 0.59
F5770:Tiam1 UTSW 16 89865271 missense probably damaging 1.00
PIT4515001:Tiam1 UTSW 16 89860242 missense probably damaging 0.99
R0130:Tiam1 UTSW 16 89897754 missense probably benign 0.01
R0143:Tiam1 UTSW 16 89898200 missense probably benign 0.01
R0158:Tiam1 UTSW 16 89793001 critical splice donor site probably benign
R0413:Tiam1 UTSW 16 89809365 splice site probably benign
R0449:Tiam1 UTSW 16 89837827 missense possibly damaging 0.75
R0520:Tiam1 UTSW 16 89817951 splice site probably benign
R0667:Tiam1 UTSW 16 89897984 missense probably damaging 1.00
R0787:Tiam1 UTSW 16 89789561 missense probably damaging 1.00
R1355:Tiam1 UTSW 16 89898221 missense probably benign 0.09
R1370:Tiam1 UTSW 16 89898221 missense probably benign 0.09
R1534:Tiam1 UTSW 16 89867508 critical splice donor site probably null
R1769:Tiam1 UTSW 16 89860279 missense probably damaging 1.00
R1831:Tiam1 UTSW 16 89860294 missense probably benign 0.01
R1913:Tiam1 UTSW 16 89798694 missense probably damaging 1.00
R2022:Tiam1 UTSW 16 89877187 missense probably benign
R2140:Tiam1 UTSW 16 89849645 splice site probably benign
R2383:Tiam1 UTSW 16 89798684 missense probably benign 0.29
R2697:Tiam1 UTSW 16 89793164 missense probably benign 0.00
R4118:Tiam1 UTSW 16 89877033 splice site probably null
R4327:Tiam1 UTSW 16 89855891 missense possibly damaging 0.80
R4693:Tiam1 UTSW 16 89843282 missense possibly damaging 0.87
R5104:Tiam1 UTSW 16 89818041 missense probably benign 0.00
R5412:Tiam1 UTSW 16 89884865 missense possibly damaging 0.52
R5426:Tiam1 UTSW 16 89865392 missense possibly damaging 0.58
R5600:Tiam1 UTSW 16 89865365 missense probably damaging 1.00
R5842:Tiam1 UTSW 16 89855999 missense probably benign
R5986:Tiam1 UTSW 16 89789186 missense probably benign 0.31
R6077:Tiam1 UTSW 16 89798030 critical splice donor site probably null
R6419:Tiam1 UTSW 16 89898024 nonsense probably null
R6525:Tiam1 UTSW 16 89858597 critical splice donor site probably null
R6950:Tiam1 UTSW 16 89860204 critical splice donor site probably null
R7127:Tiam1 UTSW 16 89860260 missense probably damaging 1.00
R7197:Tiam1 UTSW 16 89884938 missense probably damaging 1.00
R7249:Tiam1 UTSW 16 89843255 missense probably damaging 1.00
R7490:Tiam1 UTSW 16 89898195 missense probably benign 0.01
R7825:Tiam1 UTSW 16 89898089 missense probably benign 0.07
R8047:Tiam1 UTSW 16 89897784 missense probably benign 0.00
R8069:Tiam1 UTSW 16 89789258 missense probably benign
R8247:Tiam1 UTSW 16 89898149 missense probably benign 0.26
R8490:Tiam1 UTSW 16 89885044 missense probably damaging 0.99
R8678:Tiam1 UTSW 16 89884821 nonsense probably null
R8690:Tiam1 UTSW 16 89898012 missense probably damaging 1.00
R8839:Tiam1 UTSW 16 89884939 missense probably damaging 1.00
R8857:Tiam1 UTSW 16 89865257 missense probably damaging 0.97
R8935:Tiam1 UTSW 16 89884933 missense probably damaging 1.00
V7582:Tiam1 UTSW 16 89865271 missense probably damaging 1.00
Z1176:Tiam1 UTSW 16 89865275 missense probably damaging 1.00
Posted On2015-04-16