Incidental Mutation 'R0520:Tiam1'
ID |
48487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
MMRRC Submission |
038713-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0520 (G1)
|
Quality Score |
95 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 89614839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126020
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114122]
[ENSMUST00000114124]
[ENSMUST00000163370]
[ENSMUST00000164263]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002588
|
SMART Domains |
Protein: ENSMUSP00000002588 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 |
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 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 |
probably benign
Transcript: ENSMUST00000163370
|
SMART Domains |
Protein: ENSMUSP00000132137 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 |
probably benign
Transcript: ENSMUST00000164263
|
SMART Domains |
Protein: ENSMUSP00000126020 Gene: ENSMUSG00000002489
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
Validation Efficiency |
100% (72/72) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
T |
C |
14: 103,288,952 (GRCm39) |
I154T |
possibly damaging |
Het |
Acr |
G |
T |
15: 89,457,430 (GRCm39) |
C226F |
probably damaging |
Het |
Aff1 |
C |
T |
5: 103,995,617 (GRCm39) |
R1070* |
probably null |
Het |
Aldh9a1 |
C |
T |
1: 167,188,960 (GRCm39) |
|
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,915,851 (GRCm39) |
H12Q |
probably damaging |
Het |
Asic1 |
A |
T |
15: 99,593,416 (GRCm39) |
I291F |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,406,558 (GRCm39) |
M1815K |
possibly damaging |
Het |
Asxl3 |
A |
T |
18: 22,656,043 (GRCm39) |
D1351V |
probably damaging |
Het |
Atg9a |
C |
T |
1: 75,163,178 (GRCm39) |
W299* |
probably null |
Het |
B3gntl1 |
C |
A |
11: 121,514,314 (GRCm39) |
V313F |
possibly damaging |
Het |
B4galnt4 |
T |
A |
7: 140,647,286 (GRCm39) |
C345* |
probably null |
Het |
Bicc1 |
A |
T |
10: 70,793,020 (GRCm39) |
F211L |
probably damaging |
Het |
Cachd1 |
T |
G |
4: 100,754,900 (GRCm39) |
V117G |
probably damaging |
Het |
Cdc16 |
G |
A |
8: 13,810,569 (GRCm39) |
|
probably null |
Het |
Cers6 |
C |
T |
2: 68,935,435 (GRCm39) |
Q312* |
probably null |
Het |
Csta2 |
A |
G |
16: 36,073,461 (GRCm39) |
I16V |
probably benign |
Het |
Dclre1c |
A |
G |
2: 3,437,512 (GRCm39) |
H115R |
probably damaging |
Het |
Ddx20 |
T |
C |
3: 105,594,692 (GRCm39) |
T18A |
probably benign |
Het |
Dhx57 |
A |
G |
17: 80,565,604 (GRCm39) |
V816A |
possibly damaging |
Het |
Dlgap1 |
C |
T |
17: 70,823,989 (GRCm39) |
Q325* |
probably null |
Het |
Dnaja1 |
A |
T |
4: 40,728,072 (GRCm39) |
M178L |
probably benign |
Het |
Ecd |
A |
T |
14: 20,378,732 (GRCm39) |
S454T |
probably benign |
Het |
Efcab6 |
G |
A |
15: 83,834,247 (GRCm39) |
H454Y |
probably benign |
Het |
Exo1 |
T |
A |
1: 175,727,031 (GRCm39) |
D447E |
probably benign |
Het |
F5 |
T |
G |
1: 164,037,156 (GRCm39) |
I1965S |
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,146,821 (GRCm39) |
C2692R |
probably damaging |
Het |
Fggy |
T |
A |
4: 95,489,340 (GRCm39) |
L152Q |
probably damaging |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Gm9871 |
A |
G |
6: 101,778,540 (GRCm39) |
|
noncoding transcript |
Het |
Gnai2 |
A |
T |
9: 107,497,372 (GRCm39) |
D7E |
probably benign |
Het |
Gon7 |
C |
T |
12: 102,724,047 (GRCm39) |
|
probably benign |
Het |
H2-K2 |
A |
T |
17: 34,216,390 (GRCm39) |
V272E |
probably damaging |
Het |
Hectd4 |
G |
T |
5: 121,469,770 (GRCm39) |
R2555L |
possibly damaging |
Het |
Hexb |
T |
C |
13: 97,317,618 (GRCm39) |
R360G |
probably benign |
Het |
Igsf9b |
C |
A |
9: 27,234,546 (GRCm39) |
S470R |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,633,642 (GRCm39) |
|
probably benign |
Het |
Inpp5k |
C |
A |
11: 75,530,356 (GRCm39) |
Y265* |
probably null |
Het |
Klhl33 |
T |
G |
14: 51,129,140 (GRCm39) |
E436D |
probably damaging |
Het |
Krt80 |
A |
G |
15: 101,267,898 (GRCm39) |
L13P |
probably benign |
Het |
Krtap19-2 |
C |
T |
16: 88,670,749 (GRCm39) |
|
probably benign |
Het |
Marchf10 |
T |
C |
11: 105,280,708 (GRCm39) |
T526A |
probably benign |
Het |
Mcrs1 |
A |
G |
15: 99,146,336 (GRCm39) |
|
probably null |
Het |
Msh2 |
G |
T |
17: 88,024,972 (GRCm39) |
V617F |
possibly damaging |
Het |
Nckap1 |
A |
C |
2: 80,371,874 (GRCm39) |
|
probably benign |
Het |
Nek4 |
T |
A |
14: 30,681,263 (GRCm39) |
|
probably benign |
Het |
Or7h8 |
G |
A |
9: 20,123,791 (GRCm39) |
V49I |
probably benign |
Het |
Or8b12b |
T |
C |
9: 37,684,849 (GRCm39) |
V298A |
probably benign |
Het |
Or8k22 |
G |
T |
2: 86,163,475 (GRCm39) |
T75K |
probably damaging |
Het |
Or9s14 |
T |
A |
1: 92,536,471 (GRCm39) |
V304E |
probably damaging |
Het |
Osgin1 |
A |
G |
8: 120,169,247 (GRCm39) |
H48R |
probably damaging |
Het |
Pam |
T |
A |
1: 97,811,920 (GRCm39) |
T369S |
probably benign |
Het |
Pclo |
C |
T |
5: 14,763,844 (GRCm39) |
Q821* |
probably null |
Het |
Plekhm1 |
T |
C |
11: 103,285,770 (GRCm39) |
I222V |
probably benign |
Het |
Ptprg |
T |
G |
14: 12,199,783 (GRCm38) |
N65K |
possibly damaging |
Het |
Pum2 |
T |
A |
12: 8,771,710 (GRCm39) |
V351E |
probably damaging |
Het |
Slc25a54 |
T |
A |
3: 109,014,546 (GRCm39) |
|
probably benign |
Het |
Smchd1 |
A |
T |
17: 71,736,538 (GRCm39) |
D587E |
possibly damaging |
Het |
Stap1 |
A |
G |
5: 86,238,823 (GRCm39) |
M164V |
probably benign |
Het |
Stat5a |
T |
C |
11: 100,752,252 (GRCm39) |
V30A |
probably damaging |
Het |
Stk36 |
T |
G |
1: 74,641,365 (GRCm39) |
|
probably benign |
Het |
Tmc5 |
T |
C |
7: 118,265,799 (GRCm39) |
M553T |
probably damaging |
Het |
Tmem14a |
T |
A |
1: 21,299,636 (GRCm39) |
Y89N |
possibly damaging |
Het |
Tpp2 |
A |
G |
1: 44,029,690 (GRCm39) |
Y991C |
probably damaging |
Het |
Ttc7 |
A |
G |
17: 87,666,579 (GRCm39) |
K615E |
possibly damaging |
Het |
Ubac2 |
C |
T |
14: 122,231,754 (GRCm39) |
P227S |
probably damaging |
Het |
Vit |
A |
C |
17: 78,932,588 (GRCm39) |
K565T |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,853,133 (GRCm39) |
F2409L |
possibly damaging |
Het |
Wdr64 |
A |
G |
1: 175,553,958 (GRCm39) |
T173A |
probably damaging |
Het |
Zfp759 |
T |
C |
13: 67,285,419 (GRCm39) |
I60T |
probably benign |
Het |
Zfp81 |
A |
G |
17: 33,553,351 (GRCm39) |
S488P |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (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 |
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 |
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'- TCATGCAAACTATTGACTGGACCCC -3'
(R):5'- TCCAAGATGTAGCCGCCTTTGAC -3'
Sequencing Primer
(F):5'- TATTGACTGGACCCCATCCAC -3'
(R):5'- CGCATTGAGATGTGGTCCC -3'
|
Posted On |
2013-06-12 |