Incidental Mutation 'R9750:Tiam1'
| ID |
732486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tiam1
|
| Ensembl Gene |
ENSMUSG00000002489 |
| Gene Name |
T cell lymphoma invasion and metastasis 1 |
| Synonyms |
D16Ium10, D16Ium10e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9750 (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 T
at 89695394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 21
(L21Q)
|
| 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: L21Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: L21Q
| 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: L21Q
|
| SMART Domains |
Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: L21Q
| 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: L21Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: L21Q
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
G |
T |
11: 50,494,333 (GRCm39) |
V136L |
probably benign |
Het |
| Adamtsl3 |
G |
T |
7: 82,244,589 (GRCm39) |
L1348F |
probably benign |
Het |
| Amotl1 |
T |
A |
9: 14,504,102 (GRCm39) |
T369S |
probably benign |
Het |
| Anapc2 |
T |
G |
2: 25,174,982 (GRCm39) |
V700G |
possibly damaging |
Het |
| Aox3 |
C |
T |
1: 58,215,648 (GRCm39) |
Q1027* |
probably null |
Het |
| Ap5m1 |
A |
G |
14: 49,317,756 (GRCm39) |
T338A |
probably benign |
Het |
| Carf |
T |
A |
1: 60,171,158 (GRCm39) |
Y240* |
probably null |
Het |
| Ccl21a |
G |
A |
4: 42,773,875 (GRCm39) |
A15V |
probably benign |
Het |
| Dcst1 |
A |
T |
3: 89,261,462 (GRCm39) |
I429N |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,594,510 (GRCm39) |
S259P |
probably benign |
Het |
| Esp15 |
A |
G |
17: 39,955,603 (GRCm39) |
M57V |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,915,157 (GRCm39) |
I1597T |
probably benign |
Het |
| Fbxo38 |
T |
C |
18: 62,674,061 (GRCm39) |
S7G |
probably benign |
Het |
| Gm11562 |
G |
A |
11: 99,510,856 (GRCm39) |
P115S |
unknown |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Kansl1l |
G |
C |
1: 66,817,150 (GRCm39) |
I403M |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,747,499 (GRCm39) |
H1505R |
unknown |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lpgat1 |
T |
A |
1: 191,510,587 (GRCm39) |
F391I |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,778 (GRCm39) |
V334E |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nup210l |
A |
T |
3: 90,117,659 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 59,024,682 (GRCm39) |
R453W |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,858 (GRCm39) |
D121G |
possibly damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,289,684 (GRCm39) |
V572A |
probably benign |
Het |
| Pgr |
T |
C |
9: 8,901,918 (GRCm39) |
S484P |
possibly damaging |
Het |
| Pygl |
G |
T |
12: 70,245,303 (GRCm39) |
S473R |
possibly damaging |
Het |
| Samd1 |
T |
C |
8: 84,725,989 (GRCm39) |
V410A |
probably damaging |
Het |
| Serpina3j |
T |
G |
12: 104,280,942 (GRCm39) |
H38Q |
probably benign |
Het |
| Shprh |
A |
G |
10: 11,040,204 (GRCm39) |
Y559C |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,727,866 (GRCm39) |
D426V |
unknown |
Het |
| Slc25a21 |
T |
C |
12: 56,785,382 (GRCm39) |
K158R |
probably benign |
Het |
| Smc1b |
A |
T |
15: 85,016,106 (GRCm39) |
N11K |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,873,216 (GRCm39) |
V317A |
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tcap |
A |
G |
11: 98,275,228 (GRCm39) |
T121A |
probably benign |
Het |
| Tgs1 |
C |
A |
4: 3,585,869 (GRCm39) |
Q249K |
probably damaging |
Het |
| Tmem131l |
G |
A |
3: 83,831,358 (GRCm39) |
A858V |
probably damaging |
Het |
| Trpm3 |
G |
A |
19: 22,903,495 (GRCm39) |
R927H |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,077,960 (GRCm39) |
H870L |
probably benign |
Het |
| Zfp518a |
T |
A |
19: 40,903,889 (GRCm39) |
C1273S |
possibly damaging |
Het |
| Zfp960 |
A |
T |
17: 17,307,898 (GRCm39) |
H204L |
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 |
|
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 |
|
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'- ATCTACTCGGTCCACCCAGATG -3'
(R):5'- ACCCAAAGTGTCTGCTTATACTG -3'
Sequencing Primer
(F):5'- AAGTCGTCTAGGGCGCCTTC -3'
(R):5'- GTGTCTGCTTATACTGATTCTAAGC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation