Incidental Mutation 'R8857:Tiam1'
| ID |
675441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
068677-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8857 (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 T
at 89662145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 658
(S658T)
|
| 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: S658T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: S658T
| 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: S658T
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: S658T
| 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: S658T
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: S658T
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
98% (65/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,119,287 (GRCm39) |
L266F |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,402,065 (GRCm39) |
C654* |
probably null |
Het |
| Adgrl1 |
C |
A |
8: 84,657,657 (GRCm39) |
A421D |
probably benign |
Het |
| Adra1b |
C |
G |
11: 43,727,092 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,399,939 (GRCm39) |
V710E |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,264,558 (GRCm39) |
V1523A |
probably damaging |
Het |
| AW551984 |
G |
C |
9: 39,511,831 (GRCm39) |
A60G |
probably damaging |
Het |
| Bdh1 |
A |
T |
16: 31,265,450 (GRCm39) |
T42S |
probably benign |
Het |
| C130073F10Rik |
G |
A |
4: 101,747,555 (GRCm39) |
P158L |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,248,909 (GRCm39) |
K457* |
probably null |
Het |
| Chd3 |
G |
A |
11: 69,253,146 (GRCm39) |
P223L |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,437,878 (GRCm39) |
S481P |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,703,485 (GRCm39) |
K3027N |
unknown |
Het |
| Csf2rb2 |
T |
C |
15: 78,178,613 (GRCm39) |
D111G |
probably null |
Het |
| Disc1 |
A |
C |
8: 125,891,870 (GRCm39) |
E641A |
probably damaging |
Het |
| Fbln5 |
C |
A |
12: 101,726,990 (GRCm39) |
C320F |
probably damaging |
Het |
| Fbn2 |
G |
A |
18: 58,286,933 (GRCm39) |
T242I |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,922,280 (GRCm39) |
|
probably benign |
Het |
| Gpsm1 |
G |
C |
2: 26,230,457 (GRCm39) |
G469A |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,056,228 (GRCm39) |
I887T |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,159,825 (GRCm39) |
V692A |
probably damaging |
Het |
| Hsd17b13 |
A |
G |
5: 104,125,063 (GRCm39) |
L40P |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,298,587 (GRCm39) |
|
probably null |
Het |
| Irf2bpl |
T |
C |
12: 86,929,359 (GRCm39) |
Y438C |
possibly damaging |
Het |
| Itgb4 |
A |
T |
11: 115,871,853 (GRCm39) |
N219I |
probably benign |
Het |
| Knop1 |
T |
C |
7: 118,451,949 (GRCm39) |
K257E |
|
Het |
| Krtap19-5 |
A |
T |
16: 88,693,139 (GRCm39) |
F58I |
unknown |
Het |
| L3mbtl2 |
T |
A |
15: 81,571,320 (GRCm39) |
F709L |
unknown |
Het |
| Map1a |
G |
A |
2: 121,138,098 (GRCm39) |
R2924H |
probably damaging |
Het |
| Mfsd13a |
A |
G |
19: 46,356,567 (GRCm39) |
D224G |
probably benign |
Het |
| Mme |
A |
T |
3: 63,256,070 (GRCm39) |
N510I |
probably damaging |
Het |
| Morc2a |
T |
A |
11: 3,627,484 (GRCm39) |
|
probably null |
Het |
| Mptx2 |
T |
C |
1: 173,102,452 (GRCm39) |
E79G |
probably benign |
Het |
| Nutm1 |
A |
G |
2: 112,081,523 (GRCm39) |
M380T |
probably benign |
Het |
| Or5ac25 |
A |
T |
16: 59,182,041 (GRCm39) |
I180N |
probably damaging |
Het |
| P2rx1 |
A |
G |
11: 72,903,197 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,501,472 (GRCm39) |
I7T |
probably damaging |
Het |
| Phf20l1 |
T |
C |
15: 66,513,781 (GRCm39) |
S1013P |
probably benign |
Het |
| Plb1 |
T |
C |
5: 32,521,556 (GRCm39) |
V1469A |
unknown |
Het |
| Polr1g |
C |
T |
7: 19,093,355 (GRCm39) |
|
probably benign |
Het |
| Prkab1 |
T |
C |
5: 116,158,147 (GRCm39) |
N150D |
probably damaging |
Het |
| Qsox1 |
A |
G |
1: 155,658,333 (GRCm39) |
V412A |
possibly damaging |
Het |
| Rai1 |
A |
G |
11: 60,077,393 (GRCm39) |
S486G |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,670,965 (GRCm39) |
Y170* |
probably null |
Het |
| Rims2 |
T |
A |
15: 39,543,044 (GRCm39) |
M1426K |
possibly damaging |
Het |
| Selenoi |
C |
A |
5: 30,461,160 (GRCm39) |
S132* |
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,978,800 (GRCm39) |
I498M |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,483,523 (GRCm39) |
M970T |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,427,022 (GRCm39) |
F360L |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,393,305 (GRCm39) |
Y113H |
probably damaging |
Het |
| Spast |
T |
A |
17: 74,675,938 (GRCm39) |
M327K |
possibly damaging |
Het |
| Sphkap |
T |
A |
1: 83,258,288 (GRCm39) |
I152F |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem174 |
G |
T |
13: 98,773,433 (GRCm39) |
H132Q |
probably damaging |
Het |
| Tnfrsf10b |
G |
A |
14: 70,012,543 (GRCm39) |
V117I |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,713,728 (GRCm39) |
T719A |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,896,379 (GRCm39) |
P292S |
probably damaging |
Het |
| Trav15-1-dv6-1 |
T |
A |
14: 53,797,615 (GRCm39) |
F88Y |
probably damaging |
Het |
| Trp63 |
A |
T |
16: 25,639,226 (GRCm39) |
H138L |
probably damaging |
Het |
| U2af2 |
T |
A |
7: 5,065,290 (GRCm39) |
S2T |
probably damaging |
Het |
| Uroc1 |
T |
C |
6: 90,334,510 (GRCm39) |
V574A |
possibly damaging |
Het |
| Zc3h7b |
G |
A |
15: 81,656,681 (GRCm39) |
R166Q |
probably benign |
Het |
| Zfp488 |
A |
C |
14: 33,692,760 (GRCm39) |
S134R |
probably benign |
Het |
| Zfp950 |
T |
C |
19: 61,116,001 (GRCm39) |
D2G |
probably benign |
Het |
| Zfyve1 |
T |
A |
12: 83,598,374 (GRCm39) |
H618L |
probably damaging |
Het |
| Zp1 |
T |
G |
19: 10,893,888 (GRCm39) |
D439A |
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 |
|
|
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 |
|
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'- AAGCGCATTTCCACAAAGGTTC -3'
(R):5'- GTGGCTAACGTTTGCTCTTACC -3'
Sequencing Primer
(F):5'- TCTGTCAGGTCCTGTTCA -3'
(R):5'- ACCCCAAAAGGCTGCTT -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation