Mutagenetix > Incidental Mutation

Incidental Mutation 'R2383:Tiam1'

247618

Institutional Source

Beutler Lab

Gene Symbol

Tiam1

Ensembl Gene

ENSMUSG00000002489

Gene Name

T cell lymphoma invasion and metastasis 1

Synonyms

D16Ium10, D16Ium10e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89583999-89940657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89595572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1303 (V1303A)

Ref Sequence

ENSEMBL: ENSMUSP00000132137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114122] [ENSMUST00000114124] [ENSMUST00000144691] [ENSMUST00000163370] [ENSMUST00000164263]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002588
AA Change: V1303A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: V1303A

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

noncoding transcript
Transcript: ENSMUST00000089084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114122

SMART Domains

Protein: ENSMUSP00000109757
Gene: ENSMUSG00000002489

Domain	Start	End	E-Value	Type
PDZ	44	116	1.15e-5	SMART
low complexity region	201	216	N/A	INTRINSIC
RhoGEF	232	421	1.42e-63	SMART
PH	450	585	9.58e-2	SMART
low complexity region	633	642	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

unknown
Transcript: ENSMUST00000134021
AA Change: V18A

Predicted Effect

probably benign
Transcript: ENSMUST00000144691

SMART Domains

Protein: ENSMUSP00000136283
Gene: ENSMUSG00000002489

Domain	Start	End	E-Value	Type
Blast:PH	1	52	2e-30	BLAST
SCOP:d1foea2	1	56	2e-30	SMART
PDB:1FOE\|G	1	61	5e-37	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000163370
AA Change: V1303A

PolyPhen 2 Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: V1303A

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: ENSMUST00000164263
AA Change: V334A

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: V334A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178095

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam33	T	C	2: 130,893,282 (GRCm39)	T748A	probably benign	Het
Afg3l2	A	G	18: 67,556,026 (GRCm39)	V435A	possibly damaging	Het
Ccdc170	G	A	10: 4,484,208 (GRCm39)	E345K	probably benign	Het
Chd2	T	C	7: 73,153,168 (GRCm39)	I227V	possibly damaging	Het
Cndp2	C	A	18: 84,693,215 (GRCm39)	D182Y	possibly damaging	Het
Col14a1	A	T	15: 55,310,913 (GRCm39)		probably benign	Het
Cyp2e1	C	T	7: 140,349,981 (GRCm39)	S222L	probably benign	Het
Evx2	T	C	2: 74,488,393 (GRCm39)		probably null	Het
Kics2	A	G	10: 121,586,554 (GRCm39)	T290A	possibly damaging	Het
L1td1	A	G	4: 98,625,959 (GRCm39)	E718G	possibly damaging	Het
Lgr4	T	C	2: 109,830,960 (GRCm39)	S296P	probably damaging	Het
Lrrc7	T	C	3: 157,869,593 (GRCm39)	M709V	probably benign	Het
Mtbp	G	A	15: 55,429,590 (GRCm39)	G162D	probably damaging	Het
Nap1l1	T	G	10: 111,329,272 (GRCm39)	D295E	probably damaging	Het
Or2f1b	A	T	6: 42,739,393 (GRCm39)	M136L	probably benign	Het
Plrg1	C	T	3: 82,973,255 (GRCm39)	P178S	probably damaging	Het
Serpina1b	T	A	12: 103,694,539 (GRCm39)	I402F	probably benign	Het
Sla	T	A	15: 66,654,525 (GRCm39)	I254F	probably damaging	Het
Slc25a29	A	G	12: 108,792,934 (GRCm39)	S215P	probably damaging	Het
Thoc2l	T	C	5: 104,666,854 (GRCm39)	S459P	probably benign	Het
Trim45	A	T	3: 100,832,543 (GRCm39)	I259F	probably damaging	Het
Ttn	T	C	2: 76,536,856 (GRCm39)	S34990G	probably benign	Het
Zbtb48	A	G	4: 152,111,407 (GRCm39)	V36A	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
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
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'- GGAGGCTCAGTATGTATCTGCTC -3'
(R):5'- TCCTTCAGCTACTACAGTGAGC -3'

Sequencing Primer
(F):5'- CAGTATGTATCTGCTCATGTGC -3'
(R):5'- GTGAGCACAGCTAAGTTTAAACC -3'

Posted On

2014-11-11