Incidental Mutation 'R0143:Tiam1'
| ID |
22465 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
038428-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0143 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89695088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 123
(V123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114124]
[ENSMUST00000163370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002588
AA Change: V123E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: V123E
| 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: ENSMUST00000114124
AA Change: V123E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: V123E
| 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: ENSMUST00000130951
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139544
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163370
AA Change: V123E
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: V123E
| 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 |
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (76/78) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,988,288 (GRCm39) |
I145N |
probably benign |
Het |
| Ankrd1 |
G |
A |
19: 36,096,713 (GRCm39) |
A38V |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,576,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,916,890 (GRCm39) |
T419A |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,523,072 (GRCm39) |
N403Y |
possibly damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,193 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,324,693 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,237,857 (GRCm39) |
V17A |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,550,387 (GRCm39) |
L379Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,336 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,071 (GRCm39) |
D258N |
probably damaging |
Het |
| Ddx39a |
T |
C |
8: 84,447,179 (GRCm39) |
V113A |
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,179,671 (GRCm39) |
H643L |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,413,640 (GRCm39) |
T334A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Dtx4 |
G |
A |
19: 12,463,846 (GRCm39) |
T312I |
probably damaging |
Het |
| Dusp18 |
C |
T |
11: 3,847,243 (GRCm39) |
R78C |
probably benign |
Het |
| Fes |
A |
C |
7: 80,033,643 (GRCm39) |
F203V |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,656,957 (GRCm39) |
|
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,526 (GRCm39) |
|
silent |
Het |
| Gm5828 |
T |
C |
1: 16,838,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
A |
C |
11: 98,557,080 (GRCm39) |
E65A |
probably damaging |
Het |
| Hck |
T |
A |
2: 152,976,140 (GRCm39) |
|
probably null |
Het |
| Henmt1 |
A |
T |
3: 108,861,118 (GRCm39) |
H47L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,099 (GRCm39) |
F566L |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,617 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
T |
C |
3: 101,342,917 (GRCm39) |
I518T |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,793,193 (GRCm39) |
F223L |
probably benign |
Het |
| Isoc2a |
T |
C |
7: 4,894,331 (GRCm39) |
|
probably null |
Het |
| Krt73 |
T |
A |
15: 101,709,208 (GRCm39) |
R200W |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,429,811 (GRCm39) |
F420L |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,228,164 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,562 (GRCm39) |
A213S |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,276,558 (GRCm39) |
F218L |
probably damaging |
Het |
| Ncf1 |
G |
T |
5: 134,255,991 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,053,433 (GRCm39) |
D2032G |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,471 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,202 (GRCm39) |
I34V |
probably benign |
Het |
| Or9i1b |
A |
C |
19: 13,896,614 (GRCm39) |
I77L |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,375,448 (GRCm39) |
W525R |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,131 (GRCm39) |
I799N |
probably damaging |
Het |
| Poldip3 |
G |
A |
15: 83,012,144 (GRCm39) |
L372F |
probably damaging |
Het |
| Polg2 |
C |
A |
11: 106,668,352 (GRCm39) |
V174L |
probably benign |
Het |
| Prrt4 |
C |
G |
6: 29,170,670 (GRCm39) |
G594A |
probably damaging |
Het |
| Prss1 |
A |
G |
6: 41,440,522 (GRCm39) |
D199G |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,973,823 (GRCm39) |
Q207L |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,123,074 (GRCm39) |
D334G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,253,929 (GRCm39) |
C622G |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,865,635 (GRCm39) |
D84E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,785,982 (GRCm39) |
S432T |
possibly damaging |
Het |
| Tnpo3 |
A |
G |
6: 29,565,651 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
A |
C |
11: 117,643,811 (GRCm39) |
N1481H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,389 (GRCm39) |
S234P |
probably damaging |
Het |
| Tor1aip2 |
A |
T |
1: 155,935,294 (GRCm39) |
T10S |
probably benign |
Het |
| Tpsab1 |
T |
A |
17: 25,562,418 (GRCm39) |
H303L |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,228,010 (GRCm39) |
V407D |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,417 (GRCm39) |
D1035E |
probably benign |
Het |
| Ttc38 |
T |
C |
15: 85,737,920 (GRCm39) |
V402A |
possibly damaging |
Het |
| Ube4b |
C |
T |
4: 149,439,914 (GRCm39) |
R646H |
possibly damaging |
Het |
| Usp8 |
C |
A |
2: 126,597,009 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,233 (GRCm39) |
I1871F |
probably benign |
Het |
| Zfp345 |
T |
A |
2: 150,314,475 (GRCm39) |
Q354L |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,023,402 (GRCm39) |
|
probably benign |
Het |
| Zfp81 |
G |
A |
17: 33,554,095 (GRCm39) |
H240Y |
possibly damaging |
Het |
| Zfp830 |
A |
G |
11: 82,655,994 (GRCm39) |
D266G |
possibly damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGGAACCCAAGATTTCTTCGTTG -3'
(R):5'- CACAGGAACTCTGAAGTGAGCACC -3'
Sequencing Primer
(F):5'- AGTGAGAATTCCAGGCTGTCC -3'
(R):5'- TGAAGTGAGCACCCGGTC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation