Incidental Mutation 'R4118:Tiam1'
ID |
315195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
MMRRC Submission |
041631-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4118 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 89673921 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002588]
[ENSMUST00000114124]
[ENSMUST00000163370]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000002588
|
SMART Domains |
Protein: ENSMUSP00000002588 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 null
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 null
Transcript: ENSMUST00000163370
|
SMART Domains |
Protein: ENSMUSP00000132137 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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
92% (55/60) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
C |
3: 124,373,503 (GRCm39) |
R31G |
possibly damaging |
Het |
4932414N04Rik |
C |
T |
2: 68,566,857 (GRCm39) |
R419C |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,418 (GRCm39) |
E232G |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,771,428 (GRCm39) |
K1245M |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,343,858 (GRCm39) |
L83P |
probably damaging |
Het |
Atp9b |
T |
C |
18: 80,793,044 (GRCm39) |
D1000G |
possibly damaging |
Het |
Atxn7 |
T |
C |
14: 14,100,308 (GRCm38) |
S665P |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,237,708 (GRCm39) |
Y212C |
possibly damaging |
Het |
Cars1 |
A |
G |
7: 143,113,384 (GRCm39) |
|
probably null |
Het |
Cep162 |
T |
C |
9: 87,086,229 (GRCm39) |
T1032A |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,865,831 (GRCm39) |
E668K |
probably damaging |
Het |
Dek |
T |
C |
13: 47,242,076 (GRCm39) |
T201A |
probably benign |
Het |
Depdc5 |
T |
A |
5: 33,121,979 (GRCm39) |
S1079T |
probably damaging |
Het |
Etaa1 |
A |
T |
11: 17,896,180 (GRCm39) |
S646T |
probably benign |
Het |
Fat1 |
T |
C |
8: 45,463,474 (GRCm39) |
S1339P |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,503,981 (GRCm39) |
D4491E |
probably damaging |
Het |
Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
Gpr18 |
T |
C |
14: 122,149,968 (GRCm39) |
E19G |
probably benign |
Het |
Ipo5 |
A |
G |
14: 121,176,073 (GRCm39) |
T633A |
probably benign |
Het |
Jmjd1c |
T |
A |
10: 67,055,532 (GRCm39) |
S317R |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,583,488 (GRCm39) |
M692K |
probably benign |
Het |
Lrp12 |
A |
T |
15: 39,741,361 (GRCm39) |
C451* |
probably null |
Het |
Lrp2 |
C |
T |
2: 69,260,606 (GRCm39) |
|
probably null |
Het |
Myrfl |
T |
A |
10: 116,664,870 (GRCm39) |
I387F |
probably damaging |
Het |
Naglu |
G |
A |
11: 100,964,908 (GRCm39) |
V332I |
probably benign |
Het |
Nat2 |
G |
A |
8: 67,954,271 (GRCm39) |
R127H |
possibly damaging |
Het |
Otx2 |
G |
A |
14: 48,896,611 (GRCm39) |
T141I |
probably benign |
Het |
Paqr9 |
T |
A |
9: 95,442,952 (GRCm39) |
I314N |
probably damaging |
Het |
Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,202,408 (GRCm39) |
D37G |
probably benign |
Het |
Prdm9 |
T |
G |
17: 15,764,275 (GRCm39) |
D835A |
probably benign |
Het |
Ptprq |
A |
G |
10: 107,547,781 (GRCm39) |
S206P |
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,976,194 (GRCm39) |
|
probably null |
Het |
Rpgrip1l |
G |
A |
8: 91,979,535 (GRCm39) |
T969I |
probably benign |
Het |
Rpp40 |
A |
G |
13: 36,080,787 (GRCm39) |
Y316H |
probably damaging |
Het |
Serpinb3d |
A |
T |
1: 107,006,960 (GRCm39) |
D249E |
possibly damaging |
Het |
Slc22a29 |
A |
C |
19: 8,137,893 (GRCm39) |
|
probably benign |
Het |
Slc35f1 |
T |
C |
10: 52,965,464 (GRCm39) |
M293T |
probably damaging |
Het |
Slmap |
A |
T |
14: 26,204,027 (GRCm39) |
L98H |
probably damaging |
Het |
Tlr11 |
A |
G |
14: 50,600,684 (GRCm39) |
Y890C |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,868,074 (GRCm39) |
T194A |
probably benign |
Het |
Ubap1 |
A |
T |
4: 41,371,767 (GRCm39) |
D26V |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,330,358 (GRCm39) |
N547K |
probably damaging |
Het |
Wiz |
C |
T |
17: 32,588,331 (GRCm39) |
|
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,272,091 (GRCm39) |
T399A |
probably benign |
Het |
Zfp729b |
A |
T |
13: 67,740,829 (GRCm39) |
F479I |
possibly damaging |
Het |
Zswim5 |
G |
A |
4: 116,844,016 (GRCm39) |
R1018H |
possibly 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 |
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 |
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'- ATGCACAACTTTCCTCGGGC -3'
(R):5'- GTGCACGAAATAATCACTCGG -3'
Sequencing Primer
(F):5'- GGGCCTCACATGCACACTC -3'
(R):5'- ATAATCACTCGGACCCCATTCTG -3'
|
Posted On |
2015-05-14 |