Incidental Mutation 'R8690:Tiam1'
| ID |
668347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
068544-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8690 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89694900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 186
(S186P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114124]
[ENSMUST00000163370]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002588
AA Change: S186P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: S186P
| 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 |
unknown
Transcript: ENSMUST00000114124
AA Change: S186P
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: S186P
| 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: ENSMUST00000163370
AA Change: S186P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: S186P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (73/73) |
| 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 |
|---|
| 2700097O09Rik |
T |
A |
12: 55,107,957 (GRCm39) |
T81S |
possibly damaging |
Het |
| Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
| Acbd5 |
T |
A |
2: 22,979,710 (GRCm39) |
S210T |
probably benign |
Het |
| Adam10 |
T |
A |
9: 70,655,505 (GRCm39) |
F324L |
probably damaging |
Het |
| Ak6 |
A |
G |
13: 100,791,857 (GRCm39) |
N100S |
possibly damaging |
Het |
| Angptl3 |
G |
T |
4: 98,925,759 (GRCm39) |
V362L |
probably benign |
Het |
| Ano9 |
C |
A |
7: 140,684,220 (GRCm39) |
W514L |
probably benign |
Het |
| Asb8 |
T |
C |
15: 98,034,108 (GRCm39) |
Y149C |
probably damaging |
Het |
| Bcl6b |
C |
A |
11: 70,117,447 (GRCm39) |
A392S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,232,500 (GRCm39) |
I1855N |
possibly damaging |
Het |
| Calm5 |
G |
A |
13: 3,904,277 (GRCm39) |
G4R |
probably damaging |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Ccnl1 |
A |
T |
3: 65,855,165 (GRCm39) |
S399R |
possibly damaging |
Het |
| Cdh17 |
T |
A |
4: 11,783,163 (GRCm39) |
I168N |
probably benign |
Het |
| Ces2g |
C |
T |
8: 105,693,605 (GRCm39) |
R429C |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,246,648 (GRCm39) |
|
probably benign |
Het |
| Cmtr2 |
T |
A |
8: 110,948,977 (GRCm39) |
M429K |
probably benign |
Het |
| Cnga1 |
T |
G |
5: 72,761,835 (GRCm39) |
I560L |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,759,796 (GRCm39) |
Y1975H |
probably damaging |
Het |
| Copb1 |
T |
C |
7: 113,849,463 (GRCm39) |
I47V |
probably benign |
Het |
| Crbn |
G |
A |
6: 106,777,010 (GRCm39) |
|
probably benign |
Het |
| Ddx41 |
A |
G |
13: 55,680,939 (GRCm39) |
L324P |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,577,794 (GRCm39) |
|
probably benign |
Het |
| Dlgap2 |
A |
T |
8: 14,793,430 (GRCm39) |
I475F |
probably benign |
Het |
| Dock2 |
T |
A |
11: 34,618,287 (GRCm39) |
K110* |
probably null |
Het |
| Dpp7 |
T |
C |
2: 25,245,645 (GRCm39) |
D147G |
probably damaging |
Het |
| Dync2h1 |
G |
T |
9: 7,075,824 (GRCm39) |
D3014E |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,994,115 (GRCm39) |
F1291I |
probably damaging |
Het |
| Endov |
T |
A |
11: 119,382,736 (GRCm39) |
V61D |
probably benign |
Het |
| Etv3 |
C |
A |
3: 87,443,786 (GRCm39) |
P457T |
possibly damaging |
Het |
| Fam185a |
T |
A |
5: 21,638,766 (GRCm39) |
H199Q |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,878,397 (GRCm39) |
E3361D |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,186,015 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
A |
T |
14: 51,932,787 (GRCm39) |
W37R |
|
Het |
| Gpr68 |
T |
C |
12: 100,845,292 (GRCm39) |
H84R |
probably benign |
Het |
| Gramd1b |
A |
T |
9: 40,215,674 (GRCm39) |
S725R |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,746,548 (GRCm39) |
T1241S |
probably benign |
Het |
| Hcn4 |
T |
C |
9: 58,751,193 (GRCm39) |
M273T |
probably benign |
Het |
| Hdlbp |
A |
G |
1: 93,341,640 (GRCm39) |
V973A |
probably damaging |
Het |
| Ighv8-11 |
A |
T |
12: 115,531,164 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
T |
1: 180,249,346 (GRCm39) |
Q907L |
probably benign |
Het |
| Lmo7 |
T |
A |
14: 102,168,644 (GRCm39) |
N1634K |
unknown |
Het |
| Lrrk1 |
C |
A |
7: 65,952,477 (GRCm39) |
L486F |
probably benign |
Het |
| Mdfic |
G |
A |
6: 15,799,653 (GRCm39) |
C260Y |
probably damaging |
Het |
| Mdh2 |
T |
C |
5: 135,814,882 (GRCm39) |
I140T |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,782,657 (GRCm39) |
V1775A |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,418,207 (GRCm39) |
V261A |
probably benign |
Het |
| Or51d1 |
C |
A |
7: 102,348,028 (GRCm39) |
D194E |
probably damaging |
Het |
| Or52n3 |
T |
C |
7: 104,530,762 (GRCm39) |
Y283H |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,490,380 (GRCm39) |
V112I |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,787,319 (GRCm39) |
V1038E |
probably benign |
Het |
| Rab25 |
T |
A |
3: 88,452,388 (GRCm39) |
R73S |
probably damaging |
Het |
| Rab8a |
TA |
TAA |
8: 72,925,130 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,308,955 (GRCm39) |
Y729H |
|
Het |
| Rnf213 |
A |
G |
11: 119,332,038 (GRCm39) |
T2417A |
|
Het |
| Rnft2 |
C |
A |
5: 118,366,935 (GRCm39) |
A268S |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,971,794 (GRCm39) |
D116G |
probably benign |
Het |
| Sema6d |
T |
A |
2: 124,506,937 (GRCm39) |
V915E |
probably benign |
Het |
| Sp140l2 |
G |
A |
1: 85,235,170 (GRCm39) |
H130Y |
probably benign |
Het |
| Srcin1 |
C |
A |
11: 97,414,368 (GRCm39) |
R1045L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,872,788 (GRCm39) |
N174K |
probably benign |
Het |
| Stac3 |
G |
A |
10: 127,339,494 (GRCm39) |
C130Y |
probably damaging |
Het |
| Stum |
G |
C |
1: 180,310,740 (GRCm39) |
P52R |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,615,106 (GRCm39) |
E526K |
possibly damaging |
Het |
| Tiparp |
G |
C |
3: 65,460,963 (GRCm39) |
V651L |
probably benign |
Het |
| Tmem19 |
C |
T |
10: 115,179,765 (GRCm39) |
G244S |
probably damaging |
Het |
| Trip11 |
A |
T |
12: 101,839,656 (GRCm39) |
V1658D |
possibly damaging |
Het |
| Ttyh3 |
A |
C |
5: 140,612,944 (GRCm39) |
Y453D |
probably damaging |
Het |
| Ttyh3 |
G |
T |
5: 140,612,945 (GRCm39) |
S452R |
probably benign |
Het |
| Ube2h |
C |
T |
6: 30,262,338 (GRCm39) |
|
probably benign |
Het |
| Zbtb4 |
T |
C |
11: 69,667,618 (GRCm39) |
S308P |
probably damaging |
Het |
| Zfyve1 |
T |
C |
12: 83,597,681 (GRCm39) |
E672G |
probably damaging |
Het |
| Zswim5 |
G |
A |
4: 116,842,002 (GRCm39) |
D861N |
probably 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 |
|
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 |
|
|
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'- GCAGTAGCTTGAGAATCTGTTC -3'
(R):5'- AGAGCATGCCAGACTCAGAG -3'
Sequencing Primer
(F):5'- AGCTTGAGAATCTGTTCCTCGGTC -3'
(R):5'- TCAGAGGAGAGCCGGCTTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation