Incidental Mutation 'IGL02622:Tiam1'
ID |
300915 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02622
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89595588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1298
(T1298A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114122]
[ENSMUST00000114124]
[ENSMUST00000144691]
[ENSMUST00000163370]
[ENSMUST00000164263]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002588
AA Change: T1298A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000002588 Gene: ENSMUSG00000002489 AA Change: T1298A
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
unknown
Transcript: ENSMUST00000134021
AA Change: T13A
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144691
|
SMART Domains |
Protein: ENSMUSP00000136283 Gene: ENSMUSG00000002489
Domain | Start | End | E-Value | Type |
Blast:PH
|
1 |
52 |
2e-30 |
BLAST |
SCOP:d1foea2
|
1 |
56 |
2e-30 |
SMART |
PDB:1FOE|G
|
1 |
61 |
5e-37 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163370
AA Change: T1298A
PolyPhen 2
Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000132137 Gene: ENSMUSG00000002489 AA Change: T1298A
Domain | Start | End | E-Value | Type |
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: T329A
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000126020 Gene: ENSMUSG00000002489 AA Change: T329A
Domain | Start | End | E-Value | Type |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
C |
T |
5: 109,887,101 (GRCm39) |
V32M |
possibly damaging |
Het |
Abca1 |
T |
C |
4: 53,034,046 (GRCm39) |
D2228G |
probably damaging |
Het |
Actr5 |
A |
G |
2: 158,480,728 (GRCm39) |
K582R |
probably benign |
Het |
Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
Atp7b |
T |
C |
8: 22,518,454 (GRCm39) |
D128G |
possibly damaging |
Het |
Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
Cep112 |
A |
G |
11: 108,409,509 (GRCm39) |
H133R |
probably benign |
Het |
Cops3 |
C |
T |
11: 59,723,864 (GRCm39) |
D98N |
probably benign |
Het |
Crlf3 |
T |
C |
11: 79,950,150 (GRCm39) |
D160G |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,825,501 (GRCm39) |
|
probably null |
Het |
Ddx60 |
C |
A |
8: 62,395,470 (GRCm39) |
|
probably null |
Het |
Depdc1a |
T |
A |
3: 159,221,147 (GRCm39) |
N159K |
probably benign |
Het |
Dsg3 |
A |
T |
18: 20,662,004 (GRCm39) |
|
probably benign |
Het |
Eif4g3 |
A |
C |
4: 137,824,677 (GRCm39) |
|
probably benign |
Het |
Ercc6l2 |
T |
A |
13: 64,001,437 (GRCm39) |
|
probably null |
Het |
Fbxw19 |
T |
A |
9: 109,322,602 (GRCm39) |
M123L |
probably benign |
Het |
Fus |
T |
A |
7: 127,584,794 (GRCm39) |
L100H |
probably damaging |
Het |
Gm29247 |
A |
G |
1: 44,146,269 (GRCm39) |
|
probably benign |
Het |
Gucy2e |
T |
C |
11: 69,115,857 (GRCm39) |
T842A |
probably damaging |
Het |
Inpp4a |
A |
T |
1: 37,418,115 (GRCm39) |
Q519L |
probably benign |
Het |
Kcnip1 |
C |
A |
11: 33,593,290 (GRCm39) |
|
probably benign |
Het |
Lyst |
T |
A |
13: 13,855,975 (GRCm39) |
L2432H |
probably damaging |
Het |
Mastl |
A |
G |
2: 23,022,857 (GRCm39) |
V622A |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,997,317 (GRCm39) |
T1712A |
probably benign |
Het |
Nlrp1a |
T |
C |
11: 71,013,826 (GRCm39) |
T475A |
possibly damaging |
Het |
Nr4a3 |
G |
A |
4: 48,051,649 (GRCm39) |
M134I |
probably benign |
Het |
Or2a56 |
T |
G |
6: 42,932,663 (GRCm39) |
V77G |
probably damaging |
Het |
Or52m1 |
T |
A |
7: 102,290,290 (GRCm39) |
L279Q |
probably damaging |
Het |
Or5p60 |
T |
A |
7: 107,723,595 (GRCm39) |
I292F |
probably damaging |
Het |
Paqr6 |
T |
G |
3: 88,273,085 (GRCm39) |
I52S |
probably damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,721 (GRCm39) |
L677Q |
probably benign |
Het |
Phax |
C |
T |
18: 56,717,372 (GRCm39) |
R250* |
probably null |
Het |
Pkn3 |
A |
G |
2: 29,973,158 (GRCm39) |
D356G |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,035,285 (GRCm39) |
L29P |
probably damaging |
Het |
Rad18 |
G |
A |
6: 112,664,948 (GRCm39) |
T62I |
probably damaging |
Het |
Riok3 |
C |
T |
18: 12,276,017 (GRCm39) |
R238C |
probably benign |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Sccpdh |
G |
T |
1: 179,504,025 (GRCm39) |
G125W |
probably damaging |
Het |
Skint11 |
T |
A |
4: 114,051,925 (GRCm39) |
L91H |
probably damaging |
Het |
Slc25a45 |
A |
G |
19: 5,928,725 (GRCm39) |
|
probably benign |
Het |
Slco2a1 |
C |
T |
9: 102,954,128 (GRCm39) |
Q370* |
probably null |
Het |
Szt2 |
A |
G |
4: 118,250,087 (GRCm39) |
S474P |
probably damaging |
Het |
Tchh |
C |
A |
3: 93,350,719 (GRCm39) |
T53K |
probably damaging |
Het |
Tmem161a |
C |
T |
8: 70,633,887 (GRCm39) |
Q183* |
probably null |
Het |
Trim26 |
C |
A |
17: 37,161,797 (GRCm39) |
A72E |
probably damaging |
Het |
Trmt11 |
A |
T |
10: 30,435,169 (GRCm39) |
I330K |
probably benign |
Het |
Tspan1 |
A |
G |
4: 116,021,052 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
C |
A |
4: 139,194,561 (GRCm39) |
C4286* |
probably null |
Het |
Unc13a |
T |
C |
8: 72,105,158 (GRCm39) |
|
probably null |
Het |
Vmn1r20 |
T |
A |
6: 57,409,583 (GRCm39) |
F303Y |
probably damaging |
Het |
Washc2 |
T |
C |
6: 116,190,979 (GRCm39) |
|
probably benign |
Het |
Xab2 |
C |
T |
8: 3,661,699 (GRCm39) |
D585N |
probably benign |
Het |
Ythdc2 |
C |
T |
18: 44,993,001 (GRCm39) |
L791F |
probably damaging |
Het |
Zfp319 |
C |
A |
8: 96,055,589 (GRCm39) |
V205F |
probably damaging |
Het |
Zscan25 |
A |
T |
5: 145,227,512 (GRCm39) |
H392L |
probably damaging |
Het |
Zswim6 |
A |
T |
13: 107,884,786 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Tiam1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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 |
|
Posted On |
2015-04-16 |