Incidental Mutation 'R8047:Tiam1'
| ID |
618838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
067484-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8047 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89694672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 262
(S262P)
|
| 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: S262P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: S262P
| 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: S262P
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: S262P
| 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: S262P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: S262P
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abce1 |
G |
A |
8: 80,427,817 (GRCm39) |
T157I |
possibly damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,340,829 (GRCm39) |
I245V |
probably benign |
Het |
| Cdh22 |
G |
A |
2: 165,012,687 (GRCm39) |
R133W |
probably damaging |
Het |
| Cep152 |
A |
T |
2: 125,406,247 (GRCm39) |
N1428K |
probably benign |
Het |
| Clstn3 |
T |
A |
6: 124,408,972 (GRCm39) |
D892V |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,650,496 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
T |
6: 87,088,454 (GRCm39) |
V206F |
unknown |
Het |
| Dnaaf9 |
A |
T |
2: 130,617,019 (GRCm39) |
V439E |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,870,208 (GRCm39) |
I625M |
possibly damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,317,139 (GRCm39) |
S20P |
probably benign |
Het |
| Eef1e1 |
T |
C |
13: 38,830,222 (GRCm39) |
Q150R |
probably damaging |
Het |
| Eln |
CTCCAGCTCCGAT |
C |
5: 134,758,003 (GRCm39) |
|
probably benign |
Het |
| Engase |
T |
C |
11: 118,377,282 (GRCm39) |
S526P |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,231 (GRCm39) |
D293V |
probably damaging |
Het |
| Gipc3 |
T |
A |
10: 81,177,132 (GRCm39) |
N146I |
probably damaging |
Het |
| Gm11569 |
T |
C |
11: 99,689,616 (GRCm39) |
T28A |
unknown |
Het |
| Gm43302 |
T |
C |
5: 105,422,623 (GRCm39) |
I470V |
possibly damaging |
Het |
| Gpihbp1 |
A |
G |
15: 75,469,627 (GRCm39) |
Q114R |
possibly damaging |
Het |
| Grhl2 |
T |
A |
15: 37,336,465 (GRCm39) |
M454K |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,462,866 (GRCm39) |
|
probably null |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,191 (GRCm39) |
|
probably null |
Het |
| Kif1b |
C |
A |
4: 149,299,379 (GRCm39) |
V1010L |
probably damaging |
Het |
| Krt8 |
A |
T |
15: 101,912,406 (GRCm39) |
I90N |
probably damaging |
Het |
| Lrrc69 |
A |
T |
4: 14,773,726 (GRCm39) |
I110N |
probably benign |
Het |
| Lta |
T |
C |
17: 35,423,011 (GRCm39) |
Y104C |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,009,546 (GRCm39) |
Y13H |
probably damaging |
Het |
| Mccc2 |
C |
T |
13: 100,091,181 (GRCm39) |
V439I |
probably benign |
Het |
| Mecom |
T |
A |
3: 30,292,404 (GRCm39) |
D35V |
|
Het |
| Msra |
C |
T |
14: 64,522,612 (GRCm39) |
A76T |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,871,681 (GRCm39) |
D2133E |
possibly damaging |
Het |
| Ncapd2 |
C |
T |
6: 125,166,762 (GRCm39) |
V31M |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,346,374 (GRCm39) |
V274A |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,806,271 (GRCm39) |
I228T |
possibly damaging |
Het |
| Patz1 |
C |
T |
11: 3,256,283 (GRCm39) |
P523L |
probably benign |
Het |
| Pbx2 |
T |
C |
17: 34,814,262 (GRCm39) |
S350P |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,760,187 (GRCm39) |
I361T |
probably benign |
Het |
| Ppat |
G |
T |
5: 77,073,557 (GRCm39) |
N122K |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,136 (GRCm39) |
Q311L |
probably damaging |
Het |
| Psg26 |
G |
T |
7: 18,212,474 (GRCm39) |
Q294K |
possibly damaging |
Het |
| Rab3il1 |
G |
T |
19: 10,011,166 (GRCm39) |
R285L |
probably benign |
Het |
| Radil |
A |
G |
5: 142,480,695 (GRCm39) |
C587R |
probably damaging |
Het |
| Rd3 |
A |
T |
1: 191,709,620 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,927,221 (GRCm39) |
L504P |
probably damaging |
Het |
| Rmc1 |
C |
T |
18: 12,313,586 (GRCm39) |
T233M |
possibly damaging |
Het |
| Selenov |
A |
C |
7: 27,990,108 (GRCm39) |
L132R |
probably benign |
Het |
| Spag16 |
A |
T |
1: 69,882,155 (GRCm39) |
D49V |
probably damaging |
Het |
| Ston2 |
C |
T |
12: 91,608,617 (GRCm39) |
V828I |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,069 (GRCm39) |
S121T |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,719,636 (GRCm39) |
K1011* |
probably null |
Het |
| Vmn2r89 |
T |
A |
14: 51,692,549 (GRCm39) |
D117E |
probably benign |
Het |
| Zbtb7c |
A |
C |
18: 76,270,221 (GRCm39) |
N103T |
probably damaging |
Het |
| Zfp764 |
T |
C |
7: 127,005,412 (GRCm39) |
E75G |
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 |
|
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'- ATGCACTTTAAGAGGCGCGC -3'
(R):5'- AAATCTTGGGTTCCGCGGAAG -3'
Sequencing Primer
(F):5'- ACTGAAACATCTCTGAGGCTTTACC -3'
(R):5'- TTCCGCGGAAGAGAAGGATTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation