Incidental Mutation 'R0130:Tiam1'
| ID |
21623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
038415-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89694642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 272
(M272V)
|
| 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: M272V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: M272V
| 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: M272V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: M272V
| 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: M272V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: M272V
| 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 |
0.0805 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 97.7%
- 10x: 93.4%
- 20x: 80.2%
|
| Validation Efficiency |
99% (84/85) |
| 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 |
|---|
| Abcg8 |
A |
T |
17: 84,994,094 (GRCm39) |
Y37F |
probably damaging |
Het |
| Ablim2 |
G |
A |
5: 35,966,520 (GRCm39) |
|
probably benign |
Het |
| Anxa9 |
A |
G |
3: 95,209,733 (GRCm39) |
S129P |
probably benign |
Het |
| Apol7c |
A |
G |
15: 77,410,562 (GRCm39) |
I128T |
possibly damaging |
Het |
| Arfgef2 |
T |
G |
2: 166,677,639 (GRCm39) |
I88S |
probably damaging |
Het |
| Arfip2 |
A |
G |
7: 105,288,205 (GRCm39) |
|
probably benign |
Het |
| Atp5mf |
A |
T |
5: 145,124,992 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
C |
T |
8: 22,518,188 (GRCm39) |
E205K |
possibly damaging |
Het |
| Atp8b5 |
T |
A |
4: 43,369,715 (GRCm39) |
|
probably null |
Het |
| Cd22 |
A |
G |
7: 30,569,389 (GRCm39) |
Y402H |
possibly damaging |
Het |
| Cd248 |
A |
G |
19: 5,119,990 (GRCm39) |
T613A |
probably benign |
Het |
| Cdcp2 |
C |
T |
4: 106,963,904 (GRCm39) |
|
probably benign |
Het |
| Cenpc1 |
A |
T |
5: 86,194,405 (GRCm39) |
D120E |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,250,656 (GRCm39) |
H691L |
probably damaging |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cped1 |
T |
A |
6: 22,121,038 (GRCm39) |
Y373N |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,848,539 (GRCm39) |
V328D |
probably damaging |
Het |
| Ctnnd2 |
A |
T |
15: 30,922,059 (GRCm39) |
E895V |
probably damaging |
Het |
| D630045J12Rik |
A |
T |
6: 38,126,706 (GRCm39) |
|
probably benign |
Het |
| Dcdc2a |
A |
T |
13: 25,371,655 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,585,108 (GRCm39) |
T837K |
probably benign |
Het |
| Eif2ak3 |
C |
A |
6: 70,858,716 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
A |
C |
1: 119,477,632 (GRCm39) |
V705G |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,142,944 (GRCm39) |
M4302L |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,901,951 (GRCm38) |
V938A |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,608,903 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fyn |
C |
T |
10: 39,387,978 (GRCm39) |
T78M |
probably benign |
Het |
| Gdap2 |
A |
G |
3: 100,109,311 (GRCm39) |
T443A |
probably damaging |
Het |
| Gde1 |
A |
T |
7: 118,294,283 (GRCm39) |
F63L |
probably benign |
Het |
| Gjc3 |
A |
G |
5: 137,956,202 (GRCm39) |
S28P |
probably benign |
Het |
| Gm10250 |
G |
A |
15: 5,150,473 (GRCm39) |
|
probably null |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,664,310 (GRCm39) |
V553A |
probably damaging |
Het |
| Lman2l |
G |
T |
1: 36,463,945 (GRCm39) |
S171* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,401,520 (GRCm39) |
D378G |
probably damaging |
Het |
| Map3k11 |
T |
C |
19: 5,740,843 (GRCm39) |
L190P |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,298,188 (GRCm39) |
Q2282L |
probably damaging |
Het |
| Mthfd2 |
T |
A |
6: 83,285,990 (GRCm39) |
I272F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,352,750 (GRCm39) |
D358V |
probably damaging |
Het |
| Nebl |
T |
C |
2: 17,395,737 (GRCm39) |
|
probably benign |
Het |
| Nebl |
T |
A |
2: 17,397,834 (GRCm39) |
Q487H |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,325,417 (GRCm39) |
N14Y |
possibly damaging |
Het |
| Or14a258 |
T |
C |
7: 86,035,514 (GRCm39) |
Y118C |
probably damaging |
Het |
| Or1j11 |
T |
A |
2: 36,312,299 (GRCm39) |
D296E |
probably benign |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,305 (GRCm39) |
S191C |
probably damaging |
Het |
| Or8k40 |
T |
C |
2: 86,584,231 (GRCm39) |
M284V |
probably benign |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Paxip1 |
C |
T |
5: 27,949,183 (GRCm39) |
|
probably benign |
Het |
| Pclo |
A |
G |
5: 14,729,811 (GRCm39) |
|
probably benign |
Het |
| Pld2 |
T |
G |
11: 70,445,174 (GRCm39) |
N591K |
probably benign |
Het |
| Plekha7 |
A |
G |
7: 115,769,939 (GRCm39) |
M276T |
probably damaging |
Het |
| Prss39 |
T |
A |
1: 34,541,281 (GRCm39) |
|
probably benign |
Het |
| Prtg |
A |
G |
9: 72,716,998 (GRCm39) |
Y113C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,749 (GRCm39) |
I88N |
probably damaging |
Het |
| Rbfox2 |
A |
G |
15: 76,976,057 (GRCm39) |
|
probably benign |
Het |
| Samd5 |
A |
G |
10: 9,550,683 (GRCm39) |
W9R |
probably damaging |
Het |
| Sec14l1 |
A |
T |
11: 117,047,233 (GRCm39) |
K637I |
possibly damaging |
Het |
| Sh2b1 |
A |
T |
7: 126,070,620 (GRCm39) |
D360E |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,036 (GRCm39) |
N628S |
possibly damaging |
Het |
| Sim1 |
A |
T |
10: 50,784,057 (GRCm39) |
I104F |
probably damaging |
Het |
| Smcp |
T |
A |
3: 92,491,827 (GRCm39) |
T7S |
unknown |
Het |
| Sp4 |
A |
G |
12: 118,264,551 (GRCm39) |
|
probably benign |
Het |
| Tectb |
G |
T |
19: 55,170,393 (GRCm39) |
K81N |
probably damaging |
Het |
| Thbs4 |
G |
T |
13: 92,890,918 (GRCm39) |
H850N |
probably benign |
Het |
| Trav13-3 |
T |
A |
14: 53,967,233 (GRCm39) |
|
noncoding transcript |
Het |
| Ubap2l |
A |
T |
3: 89,928,680 (GRCm39) |
S478T |
possibly damaging |
Het |
| Vmn2r85 |
A |
G |
10: 130,255,054 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTGAGAGGCAGTCTCCCAGTATG -3'
(R):5'- CAACGAAGAAATCTTGGGTTCCGC -3'
Sequencing Primer
(F):5'- AATCATGCACTTTAAGAGGCG -3'
(R):5'- GGATTGCGAGGAGGCTC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation