Mutagenetix > Incidental Mutation

Incidental Mutation 'R5600:Tiam1'

439001

Institutional Source

Beutler Lab

Gene Symbol

Tiam1

Ensembl Gene

ENSMUSG00000002489

Gene Name

T cell lymphoma invasion and metastasis 1

Synonyms

D16Ium10, D16Ium10e

MMRRC Submission

043152-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5600 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

89583999-89940657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 89662253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 622 (R622S)

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 damaging
Transcript: ENSMUST00000002588
AA Change: R622S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: R622S

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: ENSMUST00000114124
AA Change: R622S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: R622S

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: R622S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: R622S

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: 98.9%
20x: 97.0%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	A	C	15: 77,519,288 (GRCm39)	M264R	probably damaging	Het
Asprv1	G	T	6: 86,606,044 (GRCm39)	E297*	probably null	Het
Atp6v1c1	T	C	15: 38,687,107 (GRCm39)	V234A	probably benign	Het
Ccp110	G	A	7: 118,328,948 (GRCm39)		probably null	Het
Cfap251	T	C	5: 123,426,761 (GRCm39)	V383A	possibly damaging	Het
Fgfrl1	T	C	5: 108,853,168 (GRCm39)	C173R	probably damaging	Het
Gm5431	G	A	11: 48,785,583 (GRCm39)	T264M	possibly damaging	Het
Golga1	T	C	2: 38,910,111 (GRCm39)	E637G	probably damaging	Het
Gpr158	A	G	2: 21,832,046 (GRCm39)	T1049A	probably benign	Het
Hcn4	T	A	9: 58,766,576 (GRCm39)		probably null	Het
Krt86	G	A	15: 101,374,386 (GRCm39)	V260I	probably benign	Het
Ktn1	A	T	14: 47,927,490 (GRCm39)	Q548L	probably damaging	Het
Lingo4	A	T	3: 94,309,220 (GRCm39)	I53F	probably benign	Het
Lrrk1	A	C	7: 65,956,963 (GRCm39)	I336S	probably benign	Het
Magel2	G	T	7: 62,029,514 (GRCm39)	G806V	unknown	Het
Mrc2	T	A	11: 105,224,492 (GRCm39)	S501T	probably damaging	Het
Mrps18a	T	A	17: 46,436,575 (GRCm39)	L128*	probably null	Het
Mtor	G	T	4: 148,575,927 (GRCm39)	L1360F	probably damaging	Het
Mtpap	A	G	18: 4,379,674 (GRCm39)	E88G	probably damaging	Het
Myo5c	A	G	9: 75,196,436 (GRCm39)	K1294R	probably benign	Het
Or10al2	G	A	17: 37,983,176 (GRCm39)	M87I	possibly damaging	Het
Pik3c3	G	A	18: 30,444,346 (GRCm39)	V520M	probably damaging	Het
Pptc7	T	A	5: 122,458,918 (GRCm39)	V305E	probably damaging	Het
Ptgfrn	T	C	3: 100,963,566 (GRCm39)	D682G	probably damaging	Het
Rfx6	A	T	10: 51,599,157 (GRCm39)	Q538L	probably damaging	Het
Sbk1	G	A	7: 125,891,415 (GRCm39)	R283H	probably damaging	Het
Sfswap	T	C	5: 129,590,222 (GRCm39)	F240L	probably damaging	Het
Siglec1	T	A	2: 130,927,503 (GRCm39)	H101L	probably benign	Het
Smg1	A	G	7: 117,767,107 (GRCm39)		probably benign	Het
Spink5	A	G	18: 44,151,778 (GRCm39)	T986A	probably damaging	Het
Stat1	T	A	1: 52,188,101 (GRCm39)	S496T	probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tenm2	C	T	11: 36,054,541 (GRCm39)		probably null	Het
Vmn2r109	C	A	17: 20,761,189 (GRCm39)	D723Y	probably damaging	Het
Vmn2r70	G	T	7: 85,212,935 (GRCm39)	Q491K	probably benign	Het
Wnk1	A	C	6: 119,926,319 (GRCm39)	S1297R	probably damaging	Het
Zan	C	T	5: 137,385,233 (GRCm39)	V5067I	unknown	Het
Zfp108	A	G	7: 23,960,011 (GRCm39)	S201G	probably benign	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
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'- TCTGTATGAGCCAGAACCAGGG -3'
(R):5'- ACGATAAACAGATCTGCAAGGC -3'

Sequencing Primer
(F):5'- GAGTAAGCCTTGAGGTGAATATTCCC -3'
(R):5'- CACGACTGTAGATCTTCGT -3'

Posted On

2016-10-26