Incidental Mutation 'R4693:Tiam1'
| ID |
355067 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
041944-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89640170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 849
(E849G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132137
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114122]
[ENSMUST00000114124]
[ENSMUST00000163370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002588
AA Change: E849G
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: E849G
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000163370
AA Change: E849G
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: E849G
| 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 |
0.1697 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
C |
17: 85,004,125 (GRCm39) |
Y478H |
probably damaging |
Het |
| Adar |
A |
T |
3: 89,643,247 (GRCm39) |
H128L |
probably damaging |
Het |
| Angptl6 |
G |
T |
9: 20,786,598 (GRCm39) |
D349E |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,204,667 (GRCm39) |
T286A |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,186,019 (GRCm39) |
N510S |
probably damaging |
Het |
| Atoh7 |
G |
T |
10: 62,936,275 (GRCm39) |
R114L |
probably benign |
Het |
| Bank1 |
C |
G |
3: 135,953,437 (GRCm39) |
R106P |
probably damaging |
Het |
| Best1 |
C |
T |
19: 9,974,499 (GRCm39) |
G15D |
probably damaging |
Het |
| Best2 |
A |
T |
8: 85,737,832 (GRCm39) |
F188I |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,241 (GRCm39) |
Y344H |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,814,371 (GRCm39) |
L547P |
unknown |
Het |
| Cyp19a1 |
A |
T |
9: 54,080,617 (GRCm39) |
S247T |
possibly damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,686,925 (GRCm39) |
S126P |
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,536,750 (GRCm39) |
C180F |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,722,400 (GRCm39) |
D412G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,928 (GRCm39) |
S764C |
unknown |
Het |
| Dync1li1 |
C |
A |
9: 114,535,166 (GRCm39) |
D143E |
probably damaging |
Het |
| Esm1 |
A |
T |
13: 113,346,594 (GRCm39) |
D73V |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,513,110 (GRCm39) |
V431E |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,672,154 (GRCm39) |
R427H |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,375 (GRCm39) |
Y93C |
probably damaging |
Het |
| Gm6818 |
G |
A |
7: 38,100,126 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
A |
G |
11: 103,574,755 (GRCm39) |
S114P |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,459 (GRCm39) |
V444I |
probably benign |
Het |
| Gvin-ps3 |
T |
G |
7: 105,681,585 (GRCm39) |
|
noncoding transcript |
Het |
| Haus4 |
G |
T |
14: 54,787,256 (GRCm39) |
A67E |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,591,738 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,501,695 (GRCm39) |
Y911H |
probably benign |
Het |
| Lim2 |
T |
C |
7: 43,080,105 (GRCm39) |
Y31H |
probably damaging |
Het |
| Lims2 |
G |
A |
18: 32,077,552 (GRCm39) |
R101H |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,799,161 (GRCm39) |
M236K |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,510,686 (GRCm39) |
E427D |
unknown |
Het |
| Lrrk1 |
T |
C |
7: 65,912,235 (GRCm39) |
Y1775C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,407 (GRCm39) |
V197A |
possibly damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,329 (GRCm39) |
L268Q |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,084,726 (GRCm39) |
I216T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,234,528 (GRCm39) |
C1016Y |
probably benign |
Het |
| Mvp |
C |
A |
7: 126,597,500 (GRCm39) |
V168F |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,494 (GRCm39) |
T176A |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,437,532 (GRCm39) |
L81Q |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,966,503 (GRCm39) |
L453S |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,621 (GRCm39) |
E105V |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,412 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,659 (GRCm39) |
I108F |
probably damaging |
Het |
| Or5b125-ps1 |
C |
A |
19: 13,056,226 (GRCm39) |
|
noncoding transcript |
Het |
| Or5l14 |
A |
T |
2: 87,793,053 (GRCm39) |
F61Y |
probably benign |
Het |
| Pak4 |
A |
T |
7: 28,263,674 (GRCm39) |
M354K |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,173,383 (GRCm39) |
T2A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,960 (GRCm39) |
D1146G |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,042 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,650,671 (GRCm39) |
G467D |
possibly damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,560,692 (GRCm39) |
V25A |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,068,219 (GRCm39) |
E1772D |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,551,935 (GRCm39) |
H420R |
probably damaging |
Het |
| Sbds |
G |
A |
5: 130,279,816 (GRCm39) |
R63W |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,495,975 (GRCm39) |
T19A |
possibly damaging |
Het |
| Scn8a |
A |
T |
15: 100,913,572 (GRCm39) |
D988V |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,761,680 (GRCm39) |
Q34* |
probably null |
Het |
| Slc22a6 |
T |
A |
19: 8,601,016 (GRCm39) |
I403N |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,781,042 (GRCm39) |
Y574C |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,889,897 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,137,716 (GRCm39) |
V1022E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,815,635 (GRCm39) |
E292K |
possibly damaging |
Het |
| Tbx5 |
A |
T |
5: 119,979,964 (GRCm39) |
H170L |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,776,249 (GRCm39) |
|
probably benign |
Het |
| Themis |
G |
A |
10: 28,658,647 (GRCm39) |
R558H |
probably damaging |
Het |
| Vav3 |
A |
G |
3: 109,470,534 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,953,956 (GRCm39) |
C707S |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,803,270 (GRCm39) |
N201K |
probably benign |
Het |
| Zfp148 |
C |
T |
16: 33,288,505 (GRCm39) |
R207C |
probably damaging |
Het |
| Zfp648 |
G |
T |
1: 154,080,152 (GRCm39) |
A104S |
probably benign |
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 |
|
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 |
|
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'- TCAGCTGCACTTCATGGCAC -3'
(R):5'- AGCAGCCTGGTTTTCTAAGC -3'
Sequencing Primer
(F):5'- CAGGAGCCAGATGTGTGTTTAAAAC -3'
(R):5'- GCTGAGAACTGAAGGTTTTTCACTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation