Incidental Mutation 'R7490:Tiam1'
ID |
580712 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
MMRRC Submission |
045564-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7490 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 89695083 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 125
(S125G)
|
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 benign
Transcript: ENSMUST00000002588
AA Change: S125G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000002588 Gene: ENSMUSG00000002489 AA Change: S125G
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: S125G
|
SMART Domains |
Protein: ENSMUSP00000109759 Gene: ENSMUSG00000002489 AA Change: S125G
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
AA Change: S125G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000132137 Gene: ENSMUSG00000002489 AA Change: S125G
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: 99.6%
- 20x: 98.8%
|
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700019A02Rik |
T |
C |
1: 53,202,389 (GRCm39) |
D132G |
possibly damaging |
Het |
Abca5 |
T |
C |
11: 110,168,437 (GRCm39) |
E1424G |
possibly damaging |
Het |
Adamts4 |
C |
T |
1: 171,084,169 (GRCm39) |
Q549* |
probably null |
Het |
Adcy4 |
A |
G |
14: 56,007,890 (GRCm39) |
I893T |
possibly damaging |
Het |
Ago1 |
A |
T |
4: 126,333,298 (GRCm39) |
*858R |
probably null |
Het |
Ank2 |
T |
A |
3: 126,752,538 (GRCm39) |
I393L |
probably damaging |
Het |
Ankrd44 |
T |
C |
1: 54,687,459 (GRCm39) |
T987A |
probably benign |
Het |
Ap2a1 |
G |
T |
7: 44,552,213 (GRCm39) |
N790K |
probably benign |
Het |
Aqr |
A |
G |
2: 113,989,349 (GRCm39) |
|
probably null |
Het |
Arel1 |
G |
T |
12: 84,988,685 (GRCm39) |
F21L |
probably damaging |
Het |
Atp1a3 |
T |
C |
7: 24,686,895 (GRCm39) |
D743G |
probably damaging |
Het |
Atp9a |
A |
T |
2: 168,517,272 (GRCm39) |
F354I |
probably benign |
Het |
Bag6 |
A |
G |
17: 35,359,818 (GRCm39) |
H259R |
unknown |
Het |
BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
BC028528 |
TGGTT |
TGGTTCTGTGGTCACGGGTT |
3: 95,795,498 (GRCm39) |
|
probably benign |
Het |
BC028528 |
GTCACTGGTTCTGTG |
GTCACTGGTTCTGTGTTCACTGGTTCTGTG |
3: 95,795,478 (GRCm39) |
|
probably benign |
Het |
Bckdk |
T |
A |
7: 127,504,145 (GRCm39) |
S15T |
unknown |
Het |
C4b |
G |
T |
17: 34,950,054 (GRCm39) |
Y1405* |
probably null |
Het |
Camk4 |
G |
A |
18: 33,072,598 (GRCm39) |
|
probably null |
Het |
Car11 |
T |
A |
7: 45,349,742 (GRCm39) |
W16R |
probably benign |
Het |
Ccdc80 |
A |
C |
16: 44,916,763 (GRCm39) |
E506D |
probably damaging |
Het |
Chmp6 |
C |
T |
11: 119,806,269 (GRCm39) |
Q32* |
probably null |
Het |
Colq |
G |
A |
14: 31,267,043 (GRCm39) |
P166S |
possibly damaging |
Het |
Ctxn3 |
T |
C |
18: 57,610,357 (GRCm39) |
M58T |
probably damaging |
Het |
Cxcl3 |
A |
T |
5: 90,934,516 (GRCm39) |
I93L |
unknown |
Het |
Dnaaf2 |
T |
C |
12: 69,244,380 (GRCm39) |
Y227C |
probably damaging |
Het |
Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
Dnmt3a |
G |
A |
12: 3,954,204 (GRCm39) |
G792D |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,584,993 (GRCm39) |
|
probably null |
Het |
Ecm2 |
C |
T |
13: 49,683,818 (GRCm39) |
Q599* |
probably null |
Het |
Fbxl13 |
T |
A |
5: 21,728,058 (GRCm39) |
R550* |
probably null |
Het |
Gm4302 |
A |
T |
10: 100,177,445 (GRCm39) |
Q243L |
unknown |
Het |
Gm7168 |
A |
T |
17: 14,169,275 (GRCm39) |
Y214F |
probably benign |
Het |
Gtf3c1 |
C |
T |
7: 125,246,663 (GRCm39) |
D1549N |
probably damaging |
Het |
Gtf3c5 |
A |
T |
2: 28,461,153 (GRCm39) |
D320E |
probably damaging |
Het |
Hivep1 |
T |
A |
13: 42,311,126 (GRCm39) |
V1122D |
probably damaging |
Het |
Ibtk |
T |
C |
9: 85,600,987 (GRCm39) |
|
probably null |
Het |
Irs1 |
T |
A |
1: 82,264,985 (GRCm39) |
Q1077L |
probably damaging |
Het |
Ivd |
A |
T |
2: 118,707,373 (GRCm39) |
M296L |
possibly damaging |
Het |
Katnal1 |
T |
C |
5: 148,828,492 (GRCm39) |
D318G |
probably null |
Het |
L3mbtl3 |
C |
T |
10: 26,215,129 (GRCm39) |
V194I |
unknown |
Het |
Malt1 |
C |
A |
18: 65,581,282 (GRCm39) |
Q237K |
probably benign |
Het |
Marchf11 |
C |
T |
15: 26,311,187 (GRCm39) |
A221V |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,524 (GRCm39) |
I361M |
possibly damaging |
Het |
Nrg1 |
G |
A |
8: 32,308,682 (GRCm39) |
R493C |
probably damaging |
Het |
Oga |
G |
A |
19: 45,755,886 (GRCm39) |
R586* |
probably null |
Het |
Or10g9b |
T |
A |
9: 39,917,720 (GRCm39) |
H175L |
probably damaging |
Het |
Or2f1 |
T |
C |
6: 42,721,739 (GRCm39) |
I256T |
probably damaging |
Het |
Or4c107 |
A |
C |
2: 88,789,392 (GRCm39) |
Y194S |
probably benign |
Het |
Or51g2 |
G |
A |
7: 102,623,017 (GRCm39) |
P61S |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,671,307 (GRCm39) |
V276E |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,727,229 (GRCm39) |
Y120* |
probably null |
Het |
Orai3 |
C |
T |
7: 127,372,799 (GRCm39) |
A100V |
possibly damaging |
Het |
Oxsm |
T |
A |
14: 16,241,066 (GRCm38) |
M328L |
probably benign |
Het |
Pan2 |
T |
C |
10: 128,144,309 (GRCm39) |
V186A |
probably benign |
Het |
Pkd1l1 |
T |
A |
11: 8,866,265 (GRCm39) |
D980V |
|
Het |
Ppp1r16b |
T |
C |
2: 158,603,388 (GRCm39) |
Y438H |
probably damaging |
Het |
Ppp4c |
A |
T |
7: 126,386,504 (GRCm39) |
H164Q |
probably damaging |
Het |
Prl8a2 |
C |
A |
13: 27,536,753 (GRCm39) |
T125K |
possibly damaging |
Het |
Rasa2 |
T |
C |
9: 96,448,175 (GRCm39) |
N494S |
possibly damaging |
Het |
Rpl18a |
T |
C |
8: 71,348,150 (GRCm39) |
D147G |
probably benign |
Het |
Scg3 |
T |
C |
9: 75,576,559 (GRCm39) |
D272G |
possibly damaging |
Het |
Serpinb6c |
T |
A |
13: 34,077,818 (GRCm39) |
D184V |
probably benign |
Het |
Simc1 |
T |
G |
13: 54,672,162 (GRCm39) |
L170R |
possibly damaging |
Het |
Slx4 |
T |
C |
16: 3,797,995 (GRCm39) |
E1463G |
possibly damaging |
Het |
Stk31 |
T |
A |
6: 49,416,166 (GRCm39) |
|
probably null |
Het |
Tas1r3 |
A |
G |
4: 155,946,480 (GRCm39) |
I375T |
probably damaging |
Het |
Tbc1d24 |
T |
C |
17: 24,401,494 (GRCm39) |
D405G |
probably damaging |
Het |
Tcerg1l |
G |
A |
7: 137,861,557 (GRCm39) |
P391S |
probably damaging |
Het |
Trim16 |
C |
A |
11: 62,724,949 (GRCm39) |
H246N |
probably damaging |
Het |
Tti1 |
T |
A |
2: 157,837,392 (GRCm39) |
N896I |
probably damaging |
Het |
Ubash3a |
A |
G |
17: 31,451,286 (GRCm39) |
N395S |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,203,589 (GRCm39) |
I1014V |
probably benign |
Het |
Vmn1r30 |
T |
A |
6: 58,412,214 (GRCm39) |
Q206L |
possibly damaging |
Het |
Washc5 |
T |
A |
15: 59,209,053 (GRCm39) |
N1057I |
probably benign |
Het |
Xpo4 |
GGTATTAGCGGAGT |
GGT |
14: 57,840,078 (GRCm39) |
|
probably null |
Het |
Zcchc14 |
A |
T |
8: 122,331,756 (GRCm39) |
S536T |
unknown |
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 |
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'- GAGAATTCCAGGCTGTCCTC -3'
(R):5'- AGGAACTCTGAAGTGAGCACCC -3'
Sequencing Primer
(F):5'- TCCCGCCAGATGTCTGCAG -3'
(R):5'- TGAAGTGAGCACCCGGTCC -3'
|
Posted On |
2019-10-17 |