Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00929:Tiam1'

29148

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00929

Quality Score

Status

Chromosome

Chromosomal Location

89583999-89940657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89591627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1358 (I1358F)

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 damaging
Transcript: ENSMUST00000002588
AA Change: I1358F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: I1358F

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: I73F

Predicted Effect

probably damaging
Transcript: ENSMUST00000144691
AA Change: I13F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136283
Gene: ENSMUSG00000002489
AA Change: I13F

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 damaging
Transcript: ENSMUST00000163370
AA Change: I1358F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: I1358F

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: I389F

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: I389F

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp1	A	T	12: 30,954,899 (GRCm39)	H67Q	probably damaging	Het
Ankrd13b	A	G	11: 77,363,578 (GRCm39)	S247P	probably damaging	Het
Aqp4	C	T	18: 15,526,656 (GRCm39)	G275E	probably benign	Het
Arhgef15	A	T	11: 68,844,928 (GRCm39)	L223Q	probably damaging	Het
Asb13	A	G	13: 3,699,427 (GRCm39)	Y209C	probably damaging	Het
Cdk18	A	G	1: 132,046,257 (GRCm39)		probably null	Het
Cntnap5a	G	A	1: 115,988,004 (GRCm39)		probably null	Het
Cops6	A	G	5: 138,159,648 (GRCm39)	M1V	probably null	Het
Dab2ip	A	T	2: 35,598,889 (GRCm39)	M137L	possibly damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Lemd1	A	G	1: 132,184,447 (GRCm39)	D73G	probably benign	Het
Lpin1	G	A	12: 16,623,700 (GRCm39)	S228L	probably benign	Het
Mtcl3	C	A	10: 29,024,288 (GRCm39)	N401K	probably damaging	Het
Mtmr9	A	G	14: 63,780,946 (GRCm39)	L48P	probably damaging	Het
Ncoa3	T	A	2: 165,893,529 (GRCm39)		probably null	Het
Ndc1	T	A	4: 107,246,694 (GRCm39)	N372K	probably benign	Het
Ndufa2	A	G	18: 36,877,228 (GRCm39)		probably benign	Het
Nmt1	A	T	11: 102,950,902 (GRCm39)		probably null	Het
Or52s1	A	T	7: 102,861,892 (GRCm39)	H264L	probably damaging	Het
Pcdhgb6	T	C	18: 37,876,758 (GRCm39)	Y489H	probably damaging	Het
Rttn	A	T	18: 89,047,059 (GRCm39)	K907M	probably damaging	Het
Sos1	T	C	17: 80,716,025 (GRCm39)	Y979C	probably damaging	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Stt3b	A	T	9: 115,095,233 (GRCm39)	I266N	probably damaging	Het
Tet3	A	G	6: 83,345,637 (GRCm39)	L1600P	probably benign	Het
Usp37	G	T	1: 74,529,313 (GRCm39)	T122N	probably benign	Het
Vit	T	C	17: 78,886,830 (GRCm39)	S153P	probably damaging	Het

Other mutations in Tiam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17