Incidental Mutation 'R8972:Tiam1'
ID |
683206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
MMRRC Submission |
068806-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8972 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 89609894 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1038
(A1038V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114124]
[ENSMUST00000163370]
[ENSMUST00000164263]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002588
AA Change: A1038V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002588 Gene: ENSMUSG00000002489 AA Change: A1038V
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: 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 damaging
Transcript: ENSMUST00000163370
AA Change: A1038V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132137 Gene: ENSMUSG00000002489 AA Change: A1038V
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: ENSMUST00000164263
AA Change: A69V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000126020 Gene: ENSMUSG00000002489 AA Change: A69V
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 |
|
Meta Mutation Damage Score |
0.1607 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (70/71) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
C |
T |
11: 9,278,138 (GRCm39) |
S3106F |
probably damaging |
Het |
Acss1 |
G |
T |
2: 150,484,809 (GRCm39) |
R145S |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,920,783 (GRCm39) |
Y109C |
probably damaging |
Het |
Adgre4 |
G |
T |
17: 56,109,189 (GRCm39) |
G399C |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,473,232 (GRCm39) |
S924P |
probably damaging |
Het |
Anapc4 |
T |
A |
5: 53,007,884 (GRCm39) |
D382E |
possibly damaging |
Het |
Arfgef2 |
C |
T |
2: 166,709,253 (GRCm39) |
A1110V |
possibly damaging |
Het |
Arhgap20 |
T |
C |
9: 51,760,311 (GRCm39) |
F721L |
probably benign |
Het |
Arhgef39 |
T |
C |
4: 43,497,185 (GRCm39) |
S269G |
probably benign |
Het |
Asap2 |
C |
T |
12: 21,279,249 (GRCm39) |
T377M |
probably damaging |
Het |
Baiap3 |
G |
T |
17: 25,466,010 (GRCm39) |
A558E |
probably benign |
Het |
Birc6 |
A |
C |
17: 75,009,313 (GRCm39) |
T4862P |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,867,884 (GRCm39) |
T843A |
probably benign |
Het |
Ccdc187 |
A |
T |
2: 26,171,079 (GRCm39) |
D466E |
probably benign |
Het |
Ccdc88a |
T |
G |
11: 29,435,888 (GRCm39) |
N1270K |
probably benign |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Cntn1 |
T |
G |
15: 92,150,278 (GRCm39) |
Y371D |
probably benign |
Het |
Cpsf1 |
T |
C |
15: 76,481,528 (GRCm39) |
D1141G |
probably damaging |
Het |
Crebbp |
C |
T |
16: 3,925,935 (GRCm39) |
V1193I |
probably benign |
Het |
Csf2ra |
A |
T |
19: 61,213,597 (GRCm39) |
S371T |
probably null |
Het |
Csf2rb2 |
T |
C |
15: 78,172,115 (GRCm39) |
N432D |
probably benign |
Het |
Cul9 |
A |
T |
17: 46,854,177 (GRCm39) |
L175Q |
probably damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,394 (GRCm39) |
R132* |
probably null |
Het |
Dock5 |
C |
A |
14: 68,013,749 (GRCm39) |
L1324F |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,403,300 (GRCm39) |
V36A |
possibly damaging |
Het |
Fap |
A |
G |
2: 62,378,927 (GRCm39) |
V158A |
probably benign |
Het |
G2e3 |
T |
A |
12: 51,410,277 (GRCm39) |
S319T |
possibly damaging |
Het |
Gatd3a |
T |
C |
10: 78,003,323 (GRCm39) |
I110V |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,656,013 (GRCm39) |
|
probably null |
Het |
Gucy2g |
A |
G |
19: 55,226,406 (GRCm39) |
I170T |
probably benign |
Het |
Hmgxb4 |
T |
A |
8: 75,748,466 (GRCm39) |
W438R |
probably damaging |
Het |
Igkv14-126 |
G |
T |
6: 67,873,329 (GRCm39) |
G19V |
probably damaging |
Het |
Kansl1l |
C |
T |
1: 66,812,101 (GRCm39) |
C506Y |
probably damaging |
Het |
Kif2a |
T |
C |
13: 107,115,543 (GRCm39) |
T321A |
probably damaging |
Het |
Krtap6-5 |
C |
T |
16: 88,844,607 (GRCm39) |
R42H |
unknown |
Het |
Map4 |
T |
A |
9: 109,864,185 (GRCm39) |
M470K |
probably benign |
Het |
Mill1 |
T |
C |
7: 17,996,982 (GRCm39) |
V191A |
probably benign |
Het |
Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
Mkln1 |
A |
T |
6: 31,473,681 (GRCm39) |
H669L |
probably damaging |
Het |
Mrgprb3 |
A |
T |
7: 48,293,422 (GRCm39) |
V43E |
possibly damaging |
Het |
Mucl2 |
T |
A |
15: 103,927,860 (GRCm39) |
|
probably null |
Het |
Mybbp1a |
T |
A |
11: 72,337,076 (GRCm39) |
I604N |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,841,164 (GRCm39) |
T2210A |
probably benign |
Het |
Nlrp4f |
T |
C |
13: 65,330,749 (GRCm39) |
I881M |
probably benign |
Het |
Obscn |
C |
A |
11: 58,943,442 (GRCm39) |
A4236S |
probably benign |
Het |
Or13a23-ps1 |
A |
T |
7: 140,119,038 (GRCm39) |
M203L |
unknown |
Het |
Or4a67 |
A |
C |
2: 88,598,630 (GRCm39) |
F10V |
possibly damaging |
Het |
Or8d1 |
A |
G |
9: 38,767,254 (GRCm39) |
K299E |
probably damaging |
Het |
Or8d2b |
G |
A |
9: 38,789,150 (GRCm39) |
R226H |
probably benign |
Het |
Phc3 |
T |
A |
3: 31,015,926 (GRCm39) |
Q83L |
possibly damaging |
Het |
Pira2 |
T |
C |
7: 3,845,070 (GRCm39) |
Y396C |
probably damaging |
Het |
Prss3 |
T |
A |
6: 41,353,872 (GRCm39) |
I24F |
probably damaging |
Het |
Psg21 |
T |
C |
7: 18,381,293 (GRCm39) |
N417D |
probably benign |
Het |
Ros1 |
G |
T |
10: 51,999,333 (GRCm39) |
R1206S |
probably benign |
Het |
Smg9 |
A |
T |
7: 24,120,055 (GRCm39) |
Q386L |
probably benign |
Het |
Sncb |
T |
A |
13: 54,907,772 (GRCm39) |
|
probably null |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
T |
A |
9: 41,957,848 (GRCm39) |
I599F |
probably damaging |
Het |
Sox6 |
C |
A |
7: 115,076,218 (GRCm39) |
E807* |
probably null |
Het |
Ssu2 |
G |
A |
6: 112,360,898 (GRCm39) |
A53V |
probably benign |
Het |
Tas2r123 |
T |
C |
6: 132,824,333 (GRCm39) |
C77R |
probably benign |
Het |
Tcta |
T |
C |
9: 108,181,333 (GRCm39) |
R117G |
unknown |
Het |
Tram2 |
A |
T |
1: 21,074,273 (GRCm39) |
|
probably benign |
Het |
Tsku |
C |
A |
7: 98,001,704 (GRCm39) |
R209L |
probably damaging |
Het |
Twnk |
T |
C |
19: 45,000,149 (GRCm39) |
F622L |
probably damaging |
Het |
Ube2t |
C |
T |
1: 134,899,670 (GRCm39) |
T106I |
probably damaging |
Het |
Usf1 |
C |
T |
1: 171,245,352 (GRCm39) |
R255W |
probably damaging |
Het |
Usp28 |
T |
A |
9: 48,949,124 (GRCm39) |
L906Q |
probably null |
Het |
Vmn2r31 |
T |
A |
7: 7,399,654 (GRCm39) |
Y101F |
probably benign |
Het |
Vmn2r42 |
A |
G |
7: 8,187,331 (GRCm39) |
S814P |
probably damaging |
Het |
Wnt2b |
T |
C |
3: 104,858,475 (GRCm39) |
R265G |
possibly damaging |
Het |
Zfp62 |
T |
G |
11: 49,106,892 (GRCm39) |
S328A |
possibly damaging |
Het |
Zfp974 |
T |
C |
7: 27,610,589 (GRCm39) |
I379V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,065 (GRCm39) |
V484A |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,791,499 (GRCm39) |
L2201P |
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 |
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'- AGGTTTACACCCAGGCAATG -3'
(R):5'- TAATATAATAGTGTGTCCGAGGGG -3'
Sequencing Primer
(F):5'- GCAATGGCCCCCTTCAC -3'
(R):5'- TACATTGAAAAATGCCTTGTGAGGG -3'
|
Posted On |
2021-10-11 |