Incidental Mutation 'R6950:Tiam1'
ID |
541240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tiam1
|
Ensembl Gene |
ENSMUSG00000002489 |
Gene Name |
T cell lymphoma invasion and metastasis 1 |
Synonyms |
D16Ium10, D16Ium10e |
MMRRC Submission |
045062-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6950 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
89583999-89940657 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 89657092 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 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 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 |
0.9490 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
Validation Efficiency |
98% (59/60) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
Ces5a |
G |
T |
8: 94,257,402 (GRCm39) |
N134K |
probably benign |
Het |
Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
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 |
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 |
|
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'- AATGGCAGAGCTCAGTGTTTG -3'
(R):5'- CATTGCTATCCTTTGAGAGGGG -3'
Sequencing Primer
(F):5'- CTCAGTGTTTGGGCTATAAACTAC -3'
(R):5'- GGACTAGATGGCACCCCAAG -3'
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Posted On |
2018-11-28 |