Incidental Mutation 'R5104:Tiam1'
| ID |
392594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
042692-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5104 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89614929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| 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
AA Change: S2P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: S2P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.0%
|
| Validation Efficiency |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
G |
10: 77,158,121 (GRCm39) |
F109L |
probably damaging |
Het |
| Ano4 |
T |
A |
10: 88,903,974 (GRCm39) |
Q241L |
possibly damaging |
Het |
| Apof |
C |
T |
10: 128,105,487 (GRCm39) |
R214* |
probably null |
Het |
| Armh4 |
A |
T |
14: 50,010,929 (GRCm39) |
D259E |
possibly damaging |
Het |
| Atl2 |
A |
T |
17: 80,160,046 (GRCm39) |
S47T |
probably benign |
Het |
| Azgp1 |
T |
G |
5: 137,985,815 (GRCm39) |
I146S |
probably damaging |
Het |
| Bicral |
G |
A |
17: 47,112,182 (GRCm39) |
T1006I |
probably damaging |
Het |
| Ccdc110 |
A |
T |
8: 46,395,729 (GRCm39) |
N540I |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,325,346 (GRCm39) |
|
probably null |
Het |
| Cxcr5 |
G |
T |
9: 44,424,616 (GRCm39) |
P347Q |
probably benign |
Het |
| Cyp4a14 |
T |
G |
4: 115,353,126 (GRCm39) |
H62P |
probably damaging |
Het |
| Dgki |
T |
C |
6: 37,126,509 (GRCm39) |
E157G |
possibly damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm39) |
|
probably null |
Het |
| Ehd3 |
A |
G |
17: 74,134,442 (GRCm39) |
N267S |
probably benign |
Het |
| Eno4 |
A |
G |
19: 58,933,973 (GRCm39) |
Y58C |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,169,814 (GRCm39) |
Y2982H |
possibly damaging |
Het |
| Frmd3 |
C |
A |
4: 74,063,315 (GRCm39) |
A214D |
probably damaging |
Het |
| Gabrg1 |
A |
C |
5: 70,931,775 (GRCm39) |
S323A |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,228,007 (GRCm39) |
I592V |
probably benign |
Het |
| Gje1 |
G |
A |
10: 14,592,462 (GRCm39) |
Q107* |
probably null |
Het |
| Gm29609 |
T |
C |
5: 31,311,638 (GRCm39) |
|
probably null |
Het |
| Gpam |
A |
T |
19: 55,082,418 (GRCm39) |
F78I |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,515,377 (GRCm39) |
R252G |
probably damaging |
Het |
| Hsd3b5 |
T |
A |
3: 98,526,592 (GRCm39) |
S285C |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,507 (GRCm39) |
K37E |
possibly damaging |
Het |
| Igkv8-34 |
T |
C |
6: 70,021,138 (GRCm39) |
D108G |
probably damaging |
Het |
| Il6st |
C |
G |
13: 112,625,182 (GRCm39) |
T266S |
probably benign |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,776,138 (GRCm39) |
T307A |
probably benign |
Het |
| Kmt2b |
G |
A |
7: 30,269,265 (GRCm39) |
R2552C |
probably damaging |
Het |
| Krt4 |
T |
A |
15: 101,828,758 (GRCm39) |
R369W |
probably damaging |
Het |
| Larp4 |
T |
A |
15: 99,883,964 (GRCm39) |
M8K |
probably damaging |
Het |
| Lrit3 |
T |
A |
3: 129,582,040 (GRCm39) |
H528L |
possibly damaging |
Het |
| Mia3 |
A |
G |
1: 183,119,579 (GRCm39) |
L157S |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,622,140 (GRCm39) |
Y32* |
probably null |
Het |
| Nbea |
A |
G |
3: 55,987,348 (GRCm39) |
Y381H |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,268,159 (GRCm39) |
V475A |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,976,246 (GRCm39) |
I347M |
probably benign |
Het |
| Or11h4b |
T |
A |
14: 50,918,159 (GRCm39) |
K311* |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,539 (GRCm39) |
F223Y |
possibly damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,174 (GRCm39) |
S232T |
possibly damaging |
Het |
| Pabpc1l |
T |
A |
2: 163,885,507 (GRCm39) |
I420K |
probably benign |
Het |
| Pi4ka |
C |
T |
16: 17,098,914 (GRCm39) |
C1990Y |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,655,415 (GRCm39) |
Q223L |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,575,964 (GRCm39) |
|
probably null |
Het |
| Proz |
A |
G |
8: 13,116,931 (GRCm39) |
D161G |
probably damaging |
Het |
| Ptprb |
C |
A |
10: 116,158,364 (GRCm39) |
H765Q |
probably benign |
Het |
| Relch |
T |
C |
1: 105,658,965 (GRCm39) |
V883A |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,703,619 (GRCm39) |
C101* |
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,862,451 (GRCm39) |
T36I |
probably benign |
Het |
| Rnase12 |
C |
A |
14: 51,294,361 (GRCm39) |
C106F |
probably damaging |
Het |
| Samd3 |
T |
C |
10: 26,139,686 (GRCm39) |
S273P |
possibly damaging |
Het |
| Simc1 |
A |
G |
13: 54,674,175 (GRCm39) |
D841G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,260,908 (GRCm39) |
E607G |
probably null |
Het |
| Snrnp40 |
G |
T |
4: 130,258,958 (GRCm39) |
G122V |
possibly damaging |
Het |
| Snx25 |
T |
C |
8: 46,521,203 (GRCm39) |
*143W |
probably null |
Het |
| Taf15 |
A |
G |
11: 83,378,222 (GRCm39) |
Y154C |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,105,756 (GRCm39) |
V333A |
possibly damaging |
Het |
| Tmed11 |
T |
C |
5: 108,925,142 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
T |
C |
14: 123,170,257 (GRCm39) |
D585G |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,264,114 (GRCm39) |
S34P |
probably benign |
Het |
| Trbv13-2 |
T |
C |
6: 41,098,745 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tuba3a |
A |
G |
6: 125,259,347 (GRCm39) |
V115A |
probably benign |
Het |
| Tut1 |
A |
G |
19: 8,936,698 (GRCm39) |
E174G |
probably benign |
Het |
| Ubr3 |
T |
A |
2: 69,768,600 (GRCm39) |
M469K |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,805,591 (GRCm39) |
|
probably benign |
Het |
| Wapl |
C |
T |
14: 34,414,016 (GRCm39) |
Q293* |
probably null |
Het |
| Wdr24 |
A |
G |
17: 26,043,565 (GRCm39) |
H129R |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,757,895 (GRCm39) |
|
probably null |
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 |
|
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'- CCATCCACTGCGATCTATGC -3'
(R):5'- GCATTGAGATGTGGTCCCAG -3'
Sequencing Primer
(F):5'- TTCGTTAACAAGGGTGCCC -3'
(R):5'- AGATGTGGTCCCAGGTCTGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation