Mutagenetix > Incidental Mutations

Incidental Mutation 'R0787:Tiam1'

76928

Institutional Source

Beutler Lab

Gene Symbol

Tiam1

Ensembl Gene

ENSMUSG00000002489

Gene Name

T cell lymphoma invasion and metastasis 1

Synonyms

D16Ium10e, D16Ium10

MMRRC Submission

038967-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89787111-90143769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89789561 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Methionine at position 1446 (R1446M)

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: R1446M

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

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: R1446M

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 damaging
Transcript: ENSMUST00000114124
AA Change: R755M

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

SMART Domains

Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: R755M

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: ENSMUST00000134021

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 damaging
Transcript: ENSMUST00000163370
AA Change: R1446M

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

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: R1446M

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: R477M

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489
AA Change: R477M

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

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	A	4: 107,890,129	L6Q	probably damaging	Het
1700001F09Rik	A	T	14: 43,345,493		probably null	Het
Abca8a	T	A	11: 110,042,988	Y1197F	possibly damaging	Het
Abcc2	T	C	19: 43,798,516		probably null	Het
Adamts16	A	T	13: 70,738,829	C979S	probably damaging	Het
Agap2	T	A	10: 127,085,150	D523E	unknown	Het
Ankfy1	T	A	11: 72,760,296	I1024N	probably damaging	Het
Ankrd13c	A	G	3: 157,994,678	S379G	probably null	Het
Arhgap40	T	C	2: 158,547,790	S625P	probably benign	Het
Armc12	G	C	17: 28,538,766	A291P	probably damaging	Het
Armc9	A	G	1: 86,202,505	N524D	probably damaging	Het
Col12a1	G	T	9: 79,638,485	T2305K	probably damaging	Het
Cyp2c54	T	C	19: 40,047,635	N277S	probably benign	Het
E130311K13Rik	A	T	3: 63,920,298	V129E	probably benign	Het
Ehbp1l1	T	C	19: 5,722,668	D79G	possibly damaging	Het
Epb41l1	A	G	2: 156,494,090	E58G	probably damaging	Het
Fam217b	T	A	2: 178,420,909	V222E	probably benign	Het
Fat1	T	A	8: 45,040,555	Y3913N	probably damaging	Het
Fgd4	A	G	16: 16,423,901		probably benign	Het
Hltf	A	T	3: 20,106,446	D759V	probably damaging	Het
Hsp90ab1	ACTTCTT	ACTT	17: 45,569,499		probably benign	Het
Isg15	C	T	4: 156,199,939	R44H	probably benign	Het
Itga4	C	T	2: 79,279,153	T232I	probably benign	Het
Kntc1	C	A	5: 123,796,104	H1399Q	probably benign	Het
Lig1	A	C	7: 13,299,069	K499Q	probably benign	Het
Lrrn3	C	A	12: 41,454,231	C29F	probably damaging	Het
Mtmr10	T	C	7: 64,300,615	I136T	possibly damaging	Het
Naip1	A	G	13: 100,426,096	Y854H	probably benign	Het
Olfr770	T	C	10: 129,133,526	N81D	possibly damaging	Het
Pcdh9	G	A	14: 93,886,757	A659V	possibly damaging	Het
Phf20l1	T	A	15: 66,615,630		probably benign	Het
Phgdh	A	G	3: 98,334,549	V83A	probably damaging	Het
Pik3r1	A	T	13: 101,690,523	M326K	probably benign	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Pkd1l2	T	C	8: 117,076,177	D235G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,529,264	P1665Q	probably damaging	Het
Ppp1r7	A	G	1: 93,364,956	T326A	probably damaging	Het
Prr22	A	T	17: 56,771,072	Y75F	possibly damaging	Het
Ptov1	A	C	7: 44,865,470		probably null	Het
Rasal2	A	G	1: 157,158,696	S766P	probably damaging	Het
Shmt1	T	C	11: 60,792,976	T337A	probably benign	Het
St5	G	T	7: 109,525,620	R1068S	possibly damaging	Het
Tbc1d4	A	T	14: 101,449,209	I1168N	probably damaging	Het
Tecpr2	T	C	12: 110,946,343	V1126A	probably benign	Het
Tep1	A	T	14: 50,829,230	S2304T	possibly damaging	Het
Tmem87a	T	C	2: 120,370,484	I425V	probably benign	Het
Ubr3	T	C	2: 69,951,421		probably benign	Het
Ubxn7	T	A	16: 32,381,763		probably benign	Het
Vmn2r13	A	G	5: 109,156,847	S573P	probably damaging	Het
Wdfy3	A	T	5: 101,957,388	V191E	probably damaging	Het
Zdhhc3	A	T	9: 123,083,623	C153*	probably null	Het
Zfp407	A	T	18: 84,209,022	V2154D	probably damaging	Het
Zfp407	A	G	18: 84,209,346	V2046A	probably benign	Het
Zfr	T	A	15: 12,140,548	I227N	unknown	Het

Other mutations in Tiam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Tiam1	APN	16	89794739	missense	probably damaging	1.00
IGL01356:Tiam1	APN	16	89837788	missense	probably damaging	0.99
IGL01583:Tiam1	APN	16	89789280	missense	probably damaging	1.00
IGL01626:Tiam1	APN	16	89812968	missense	probably damaging	1.00
IGL01802:Tiam1	APN	16	89898372	missense	possibly damaging	0.94
IGL01818:Tiam1	APN	16	89867704	missense	probably damaging	1.00
IGL02146:Tiam1	APN	16	89849681	missense	probably benign	0.20
IGL02329:Tiam1	APN	16	89800036	missense	probably benign	0.08
IGL02341:Tiam1	APN	16	89898369	missense	probably damaging	1.00
IGL02622:Tiam1	APN	16	89798700	missense	possibly damaging	0.59
F5770:Tiam1	UTSW	16	89865271	missense	probably damaging	1.00
PIT4515001:Tiam1	UTSW	16	89860242	missense	probably damaging	0.99
R0130:Tiam1	UTSW	16	89897754	missense	probably benign	0.01
R0143:Tiam1	UTSW	16	89898200	missense	probably benign	0.01
R0158:Tiam1	UTSW	16	89793001	critical splice donor site	probably benign
R0413:Tiam1	UTSW	16	89809365	splice site	probably benign
R0449:Tiam1	UTSW	16	89837827	missense	possibly damaging	0.75
R0520:Tiam1	UTSW	16	89817951	splice site	probably benign
R0667:Tiam1	UTSW	16	89897984	missense	probably damaging	1.00
R1355:Tiam1	UTSW	16	89898221	missense	probably benign	0.09
R1370:Tiam1	UTSW	16	89898221	missense	probably benign	0.09
R1534:Tiam1	UTSW	16	89867508	critical splice donor site	probably null
R1769:Tiam1	UTSW	16	89860279	missense	probably damaging	1.00
R1831:Tiam1	UTSW	16	89860294	missense	probably benign	0.01
R1913:Tiam1	UTSW	16	89798694	missense	probably damaging	1.00
R2022:Tiam1	UTSW	16	89877187	missense	probably benign
R2140:Tiam1	UTSW	16	89849645	splice site	probably benign
R2383:Tiam1	UTSW	16	89798684	missense	probably benign	0.29
R2697:Tiam1	UTSW	16	89793164	missense	probably benign	0.00
R4118:Tiam1	UTSW	16	89877033	splice site	probably null
R4327:Tiam1	UTSW	16	89855891	missense	possibly damaging	0.80
R4693:Tiam1	UTSW	16	89843282	missense	possibly damaging	0.87
R5104:Tiam1	UTSW	16	89818041	missense	probably benign	0.00
R5412:Tiam1	UTSW	16	89884865	missense	possibly damaging	0.52
R5426:Tiam1	UTSW	16	89865392	missense	possibly damaging	0.58
R5600:Tiam1	UTSW	16	89865365	missense	probably damaging	1.00
R5842:Tiam1	UTSW	16	89855999	missense	probably benign
R5986:Tiam1	UTSW	16	89789186	missense	probably benign	0.31
R6077:Tiam1	UTSW	16	89798030	critical splice donor site	probably null
R6419:Tiam1	UTSW	16	89898024	nonsense	probably null
R6525:Tiam1	UTSW	16	89858597	critical splice donor site	probably null
R6950:Tiam1	UTSW	16	89860204	critical splice donor site	probably null
R7127:Tiam1	UTSW	16	89860260	missense	probably damaging	1.00
R7197:Tiam1	UTSW	16	89884938	missense	probably damaging	1.00
R7249:Tiam1	UTSW	16	89843255	missense	probably damaging	1.00
R7490:Tiam1	UTSW	16	89898195	missense	probably benign	0.01
R7825:Tiam1	UTSW	16	89898089	missense	probably benign	0.07
R8047:Tiam1	UTSW	16	89897784	missense	probably benign	0.00
R8069:Tiam1	UTSW	16	89789258	missense	probably benign
R8247:Tiam1	UTSW	16	89898149	missense	probably benign	0.26
R8490:Tiam1	UTSW	16	89885044	missense	probably damaging	0.99
R8678:Tiam1	UTSW	16	89884821	nonsense	probably null
R8690:Tiam1	UTSW	16	89898012	missense	probably damaging	1.00
R8839:Tiam1	UTSW	16	89884939	missense	probably damaging	1.00
R8857:Tiam1	UTSW	16	89865257	missense	probably damaging	0.97
R8935:Tiam1	UTSW	16	89884933	missense	probably damaging	1.00
R8972:Tiam1	UTSW	16	89813006	missense	probably damaging	1.00
R9131:Tiam1	UTSW	16	89860267	missense	probably damaging	1.00
R9229:Tiam1	UTSW	16	89837831	missense	possibly damaging	0.94
R9383:Tiam1	UTSW	16	89858673	missense	probably damaging	1.00
R9431:Tiam1	UTSW	16	89798030	critical splice donor site	probably null
V7582:Tiam1	UTSW	16	89865271	missense	probably damaging	1.00
Z1176:Tiam1	UTSW	16	89865275	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTCGTACTGAGCAAGATCGAACTG -3'
(R):5'- AGTCTCTGGCCCAATGCTGAGAAC -3'

Sequencing Primer
(F):5'- TGAGCAAGATCGAACTGTTCCTC -3'
(R):5'- AACCCAGAGCCTCTAGTGTTTAG -3'

Posted On

2013-10-16