Incidental Mutation 'R0787:Tiam1'
| ID |
76928 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
038967-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0787 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89586449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 1446
(R1446M)
|
| 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 |
probably damaging
Transcript: ENSMUST00000002588
AA Change: R1446M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: R1446M
| 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: R755M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: R755M
| 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 |
probably damaging
Transcript: ENSMUST00000163370
AA Change: R1446M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: R1446M
| 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 damaging
Transcript: ENSMUST00000164263
AA Change: R477M
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: R477M
| 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
|
| Meta Mutation Damage Score |
0.1143 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 93.4%
|
| Validation Efficiency |
100% (56/56) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001F09Rik |
A |
T |
14: 43,202,950 (GRCm39) |
|
probably null |
Het |
| Abca8a |
T |
A |
11: 109,933,814 (GRCm39) |
Y1197F |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,955 (GRCm39) |
|
probably null |
Het |
| Adamts16 |
A |
T |
13: 70,886,948 (GRCm39) |
C979S |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,921,019 (GRCm39) |
D523E |
unknown |
Het |
| Ankfy1 |
T |
A |
11: 72,651,122 (GRCm39) |
I1024N |
probably damaging |
Het |
| Ankrd13c |
A |
G |
3: 157,700,315 (GRCm39) |
S379G |
probably null |
Het |
| Arhgap40 |
T |
C |
2: 158,389,710 (GRCm39) |
S625P |
probably benign |
Het |
| Armc12 |
G |
C |
17: 28,757,740 (GRCm39) |
A291P |
probably damaging |
Het |
| Armc9 |
A |
G |
1: 86,130,227 (GRCm39) |
N524D |
probably damaging |
Het |
| Col12a1 |
G |
T |
9: 79,545,767 (GRCm39) |
T2305K |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,036,079 (GRCm39) |
N277S |
probably benign |
Het |
| Czib |
T |
A |
4: 107,747,326 (GRCm39) |
L6Q |
probably damaging |
Het |
| Dennd2b |
G |
T |
7: 109,124,827 (GRCm39) |
R1068S |
possibly damaging |
Het |
| E130311K13Rik |
A |
T |
3: 63,827,719 (GRCm39) |
V129E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,772,696 (GRCm39) |
D79G |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,336,010 (GRCm39) |
E58G |
probably damaging |
Het |
| Fam217b |
T |
A |
2: 178,062,702 (GRCm39) |
V222E |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,493,592 (GRCm39) |
Y3913N |
probably damaging |
Het |
| Fgd4 |
A |
G |
16: 16,241,765 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,160,610 (GRCm39) |
D759V |
probably damaging |
Het |
| Hsp90ab1 |
ACTTCTT |
ACTT |
17: 45,880,425 (GRCm39) |
|
probably benign |
Het |
| Isg15 |
C |
T |
4: 156,284,396 (GRCm39) |
R44H |
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,109,497 (GRCm39) |
T232I |
probably benign |
Het |
| Kntc1 |
C |
A |
5: 123,934,167 (GRCm39) |
H1399Q |
probably benign |
Het |
| Lig1 |
A |
C |
7: 13,032,995 (GRCm39) |
K499Q |
probably benign |
Het |
| Lrrn3 |
C |
A |
12: 41,504,230 (GRCm39) |
C29F |
probably damaging |
Het |
| Mtmr10 |
T |
C |
7: 63,950,363 (GRCm39) |
I136T |
possibly damaging |
Het |
| Naip1 |
A |
G |
13: 100,562,604 (GRCm39) |
Y854H |
probably benign |
Het |
| Or6c201 |
T |
C |
10: 128,969,395 (GRCm39) |
N81D |
possibly damaging |
Het |
| Pcdh9 |
G |
A |
14: 94,124,193 (GRCm39) |
A659V |
possibly damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,487,479 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,241,865 (GRCm39) |
V83A |
probably damaging |
Het |
| Pik3r1 |
A |
T |
13: 101,827,031 (GRCm39) |
M326K |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,802,916 (GRCm39) |
D235G |
possibly damaging |
Het |
| Pkhd1l1 |
C |
A |
15: 44,392,660 (GRCm39) |
P1665Q |
probably damaging |
Het |
| Ppp1r7 |
A |
G |
1: 93,292,678 (GRCm39) |
T326A |
probably damaging |
Het |
| Prr22 |
A |
T |
17: 57,078,072 (GRCm39) |
Y75F |
possibly damaging |
Het |
| Ptov1 |
A |
C |
7: 44,514,894 (GRCm39) |
|
probably null |
Het |
| Rasal2 |
A |
G |
1: 156,986,266 (GRCm39) |
S766P |
probably damaging |
Het |
| Shmt1 |
T |
C |
11: 60,683,802 (GRCm39) |
T337A |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,686,645 (GRCm39) |
I1168N |
probably damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,912,777 (GRCm39) |
V1126A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,066,687 (GRCm39) |
S2304T |
possibly damaging |
Het |
| Tmem87a |
T |
C |
2: 120,200,965 (GRCm39) |
I425V |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,781,765 (GRCm39) |
|
probably benign |
Het |
| Ubxn7 |
T |
A |
16: 32,200,581 (GRCm39) |
|
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,304,713 (GRCm39) |
S573P |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,105,254 (GRCm39) |
V191E |
probably damaging |
Het |
| Zdhhc3 |
A |
T |
9: 122,912,688 (GRCm39) |
C153* |
probably null |
Het |
| Zfp407 |
A |
T |
18: 84,227,147 (GRCm39) |
V2154D |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,227,471 (GRCm39) |
V2046A |
probably benign |
Het |
| Zfr |
T |
A |
15: 12,140,634 (GRCm39) |
I227N |
unknown |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCGTACTGAGCAAGATCGAACTG -3'
(R):5'- AGTCTCTGGCCCAATGCTGAGAAC -3'
Sequencing Primer
(F):5'- TGAGCAAGATCGAACTGTTCCTC -3'
(R):5'- AACCCAGAGCCTCTAGTGTTTAG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation