Incidental Mutation 'IGL01583:Tiam1'
| ID |
91422 |
| 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 # |
IGL01583
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 89586168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 849
(R849W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109759
(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: R1540W
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: R1540W
| 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 damaging
Transcript: ENSMUST00000114124
AA Change: R849W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: R849W
| 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: ENSMUST00000134021
|
| 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: R1540W
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: R1540W
| 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 |
possibly damaging
Transcript: ENSMUST00000164263
AA Change: R571W
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: R571W
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
T |
2: 69,126,753 (GRCm39) |
M329K |
possibly damaging |
Het |
| Abce1 |
G |
A |
8: 80,420,076 (GRCm39) |
T300M |
probably damaging |
Het |
| Acap1 |
G |
A |
11: 69,772,503 (GRCm39) |
S536L |
probably damaging |
Het |
| Adcy5 |
C |
A |
16: 35,103,883 (GRCm39) |
|
probably benign |
Het |
| Ap2b1 |
G |
T |
11: 83,215,437 (GRCm39) |
R127L |
possibly damaging |
Het |
| Asxl3 |
T |
G |
18: 22,649,654 (GRCm39) |
S548A |
probably benign |
Het |
| Atm |
G |
A |
9: 53,395,547 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
T |
C |
2: 155,818,069 (GRCm39) |
V807A |
probably damaging |
Het |
| Ces1g |
T |
A |
8: 94,033,587 (GRCm39) |
Y445F |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,512 (GRCm39) |
Y241H |
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,224,225 (GRCm39) |
S136P |
unknown |
Het |
| Cux2 |
C |
A |
5: 122,012,170 (GRCm39) |
G422W |
probably damaging |
Het |
| Cyp1a2 |
A |
T |
9: 57,589,655 (GRCm39) |
M53K |
probably benign |
Het |
| Ddx20 |
T |
C |
3: 105,593,986 (GRCm39) |
D123G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,860,466 (GRCm39) |
L1284* |
probably null |
Het |
| Dpp9 |
A |
C |
17: 56,518,666 (GRCm39) |
L46R |
probably benign |
Het |
| Elavl1 |
A |
T |
8: 4,351,699 (GRCm39) |
V139E |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,483,144 (GRCm39) |
Y1018C |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,921,261 (GRCm39) |
N78D |
possibly damaging |
Het |
| Fubp3 |
C |
T |
2: 31,501,755 (GRCm39) |
|
probably benign |
Het |
| Gbx2 |
C |
A |
1: 89,856,559 (GRCm39) |
R277L |
probably damaging |
Het |
| Gm128 |
T |
C |
3: 95,148,094 (GRCm39) |
R67G |
possibly damaging |
Het |
| Gpc2 |
T |
A |
5: 138,273,792 (GRCm39) |
R469W |
probably damaging |
Het |
| Ifi30 |
G |
A |
8: 71,217,407 (GRCm39) |
|
probably benign |
Het |
| Kbtbd4 |
T |
C |
2: 90,736,252 (GRCm39) |
S88P |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,842,750 (GRCm39) |
Y216N |
probably damaging |
Het |
| Lgals4 |
A |
G |
7: 28,540,973 (GRCm39) |
D299G |
probably damaging |
Het |
| Lmx1b |
A |
G |
2: 33,459,071 (GRCm39) |
S161P |
probably benign |
Het |
| Lrcol1 |
T |
A |
5: 110,502,444 (GRCm39) |
S107T |
probably benign |
Het |
| Lrrc28 |
A |
T |
7: 67,195,223 (GRCm39) |
|
probably null |
Het |
| Ncoa4 |
T |
C |
14: 31,894,884 (GRCm39) |
V42A |
probably benign |
Het |
| Nkd2 |
C |
T |
13: 73,969,599 (GRCm39) |
S277N |
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,340,769 (GRCm39) |
L15Q |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,107,968 (GRCm39) |
L1025R |
probably damaging |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or5w1 |
G |
T |
2: 87,486,757 (GRCm39) |
C169* |
probably null |
Het |
| Piwil4 |
A |
T |
9: 14,645,783 (GRCm39) |
F152I |
probably damaging |
Het |
| Plod3 |
T |
C |
5: 137,025,002 (GRCm39) |
S705P |
probably benign |
Het |
| Ppp2r2c |
T |
A |
5: 37,026,166 (GRCm39) |
M1K |
probably null |
Het |
| Rgs19 |
T |
C |
2: 181,331,246 (GRCm39) |
E129G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,768,061 (GRCm39) |
S223T |
probably damaging |
Het |
| Shox2 |
T |
C |
3: 66,881,104 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
C |
2: 122,527,137 (GRCm39) |
I370V |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,609,398 (GRCm39) |
I269M |
possibly damaging |
Het |
| Slco1c1 |
A |
G |
6: 141,485,793 (GRCm39) |
Y142C |
probably damaging |
Het |
| Slco3a1 |
T |
C |
7: 73,934,198 (GRCm39) |
N658S |
probably benign |
Het |
| Sos1 |
A |
T |
17: 80,741,329 (GRCm39) |
S485R |
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,825,291 (GRCm39) |
L127P |
probably damaging |
Het |
| St3gal6 |
T |
A |
16: 58,314,033 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
T |
A |
2: 163,916,134 (GRCm39) |
M1K |
probably null |
Het |
| Tbc1d12 |
A |
G |
19: 38,871,176 (GRCm39) |
E313G |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,393,134 (GRCm39) |
I472T |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,317,307 (GRCm39) |
T381A |
probably benign |
Het |
| Tmem82 |
T |
G |
4: 141,341,954 (GRCm39) |
T337P |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,868,149 (GRCm39) |
T220A |
probably benign |
Het |
| Ung |
A |
G |
5: 114,275,369 (GRCm39) |
K242E |
possibly damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,571 (GRCm39) |
M32K |
probably benign |
Het |
| Vps13d |
T |
G |
4: 144,771,658 (GRCm39) |
D956A |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,594,722 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation