Mutagenetix > Incidental Mutations

Incidental Mutation 'R0257:Tiam2'

34807

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

3000002F19Rik, STEF

MMRRC Submission

038488-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0257 (G1)

Quality Score

136

Status

Validated

Chromosome

Chromosomal Location

3326573-3531344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3450813 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 909 (V909A)

Ref Sequence

ENSEMBL: ENSMUSP00000125842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072156] [ENSMUST00000169838] [ENSMUST00000227405]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072156
AA Change: V909A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: V909A

Domain	Start	End	E-Value	Type
low complexity region	230	245	N/A	INTRINSIC
low complexity region	267	281	N/A	INTRINSIC
low complexity region	471	492	N/A	INTRINSIC
PH	505	620	7.82e-16	SMART
RBD	831	902	1.32e-26	SMART
PDZ	921	995	2.38e-7	SMART
RhoGEF	1124	1313	2.23e-61	SMART
PH	1347	1478	2.86e0	SMART
low complexity region	1522	1532	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169838
AA Change: V909A

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: V909A

Domain	Start	End	E-Value	Type
low complexity region	230	245	N/A	INTRINSIC
low complexity region	267	281	N/A	INTRINSIC
low complexity region	471	492	N/A	INTRINSIC
PH	505	620	7.82e-16	SMART
RBD	831	902	1.32e-26	SMART
PDZ	921	995	2.38e-7	SMART
RhoGEF	1124	1313	2.23e-61	SMART
PH	1347	1478	2.86e0	SMART
low complexity region	1522	1532	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227405

Meta Mutation Damage Score

0.1181

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor. A highly similar mouse protein specifically activates ras-related C3 botulinum substrate 1, converting this Rho-like guanosine triphosphatase (GTPase) from a guanosine diphosphate-bound inactive state to a guanosine triphosphate-bound active state. The encoded protein may play a role in neural cell development. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Tiam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Tiam2	APN	17	3415028	missense	probably benign	0.21
IGL01320:Tiam2	APN	17	3505745	missense	probably damaging	1.00
IGL01384:Tiam2	APN	17	3427202	missense	probably benign	0.08
IGL01575:Tiam2	APN	17	3454316	missense	probably damaging	1.00
IGL01769:Tiam2	APN	17	3427290	missense	probably damaging	1.00
IGL02395:Tiam2	APN	17	3421481	missense	possibly damaging	0.49
IGL02652:Tiam2	APN	17	3439696	splice site	probably benign
IGL03102:Tiam2	APN	17	3509548	missense	probably damaging	1.00
IGL03222:Tiam2	APN	17	3438708	missense	probably damaging	0.97
Feste_burg	UTSW	17	3414622	frame shift	probably null
R0420:Tiam2	UTSW	17	3502918	missense	probably benign	0.01
R0528:Tiam2	UTSW	17	3511071	missense	probably damaging	1.00
R0532:Tiam2	UTSW	17	3421646	missense	probably damaging	1.00
R0551:Tiam2	UTSW	17	3428954	missense	probably damaging	1.00
R0554:Tiam2	UTSW	17	3438681	nonsense	probably null
R0645:Tiam2	UTSW	17	3514698	missense	possibly damaging	0.92
R0726:Tiam2	UTSW	17	3512833	unclassified	probably benign
R1139:Tiam2	UTSW	17	3477267	missense	possibly damaging	0.55
R1392:Tiam2	UTSW	17	3414197	missense	possibly damaging	0.71
R1392:Tiam2	UTSW	17	3414197	missense	possibly damaging	0.71
R1529:Tiam2	UTSW	17	3516703	missense	probably benign	0.00
R1671:Tiam2	UTSW	17	3506834	missense	probably damaging	1.00
R1731:Tiam2	UTSW	17	3518423	missense	probably damaging	0.98
R1759:Tiam2	UTSW	17	3516003	missense	probably damaging	0.98
R1850:Tiam2	UTSW	17	3437235	missense	probably damaging	1.00
R1853:Tiam2	UTSW	17	3415135	missense	probably damaging	1.00
R1855:Tiam2	UTSW	17	3415135	missense	probably damaging	1.00
R1931:Tiam2	UTSW	17	3514725	missense	possibly damaging	0.68
R1932:Tiam2	UTSW	17	3514725	missense	possibly damaging	0.68
R1993:Tiam2	UTSW	17	3415126	nonsense	probably null
R2211:Tiam2	UTSW	17	3414918	nonsense	probably null
R2217:Tiam2	UTSW	17	3415114	missense	probably benign	0.34
R2278:Tiam2	UTSW	17	3427220	missense	probably damaging	0.96
R2407:Tiam2	UTSW	17	3477261	missense	probably benign	0.14
R2516:Tiam2	UTSW	17	3453382	missense	probably damaging	1.00
R2991:Tiam2	UTSW	17	3518250	missense	probably benign
R3086:Tiam2	UTSW	17	3421582	missense	probably damaging	1.00
R3121:Tiam2	UTSW	17	3439702	missense	probably benign	0.01
R3686:Tiam2	UTSW	17	3421684	missense	possibly damaging	0.87
R3740:Tiam2	UTSW	17	3414113	missense	possibly damaging	0.54
R3742:Tiam2	UTSW	17	3414113	missense	possibly damaging	0.54
R3826:Tiam2	UTSW	17	3507701	splice site	probably benign
R3829:Tiam2	UTSW	17	3507701	splice site	probably benign
R3844:Tiam2	UTSW	17	3421651	missense	probably damaging	0.98
R3970:Tiam2	UTSW	17	3428831	missense	probably damaging	1.00
R4060:Tiam2	UTSW	17	3428980	missense	probably benign	0.00
R4296:Tiam2	UTSW	17	3450845	missense	probably benign
R4357:Tiam2	UTSW	17	3450853	missense	probably damaging	1.00
R4368:Tiam2	UTSW	17	3414683	missense	probably benign	0.01
R4369:Tiam2	UTSW	17	3413967	start gained	probably benign
R4524:Tiam2	UTSW	17	3514711	missense	probably damaging	1.00
R4619:Tiam2	UTSW	17	3518342	missense	probably damaging	1.00
R4715:Tiam2	UTSW	17	3454168	missense	probably damaging	1.00
R4723:Tiam2	UTSW	17	3450317	missense	probably benign	0.00
R4979:Tiam2	UTSW	17	3505710	missense	probably damaging	1.00
R5182:Tiam2	UTSW	17	3438721	missense	probably damaging	1.00
R5451:Tiam2	UTSW	17	3428996	missense	probably damaging	1.00
R5728:Tiam2	UTSW	17	3414956	missense	probably damaging	0.99
R5827:Tiam2	UTSW	17	3448489	missense	probably benign	0.00
R5879:Tiam2	UTSW	17	3437265	missense	probably damaging	1.00
R5960:Tiam2	UTSW	17	3438640	missense	probably benign	0.24
R5974:Tiam2	UTSW	17	3414809	missense	possibly damaging	0.51
R6198:Tiam2	UTSW	17	3414121	missense	probably benign	0.06
R6222:Tiam2	UTSW	17	3453338	missense	probably damaging	0.96
R6295:Tiam2	UTSW	17	3509556	missense	probably damaging	1.00
R6355:Tiam2	UTSW	17	3414622	frame shift	probably null
R6356:Tiam2	UTSW	17	3414622	frame shift	probably null
R6454:Tiam2	UTSW	17	3438663	missense	probably benign	0.00
R6497:Tiam2	UTSW	17	3506827	missense	probably damaging	1.00
R6579:Tiam2	UTSW	17	3414622	frame shift	probably null
R6580:Tiam2	UTSW	17	3414622	frame shift	probably null
R6581:Tiam2	UTSW	17	3414622	frame shift	probably null
R6582:Tiam2	UTSW	17	3414622	frame shift	probably null
R6648:Tiam2	UTSW	17	3506873	missense	probably damaging	1.00
R6705:Tiam2	UTSW	17	3518243	missense	probably benign	0.01
R6758:Tiam2	UTSW	17	3518403	missense	probably benign	0.01
R6836:Tiam2	UTSW	17	3414380	missense	probably benign	0.17
R6924:Tiam2	UTSW	17	3507795	missense	probably damaging	1.00
R6977:Tiam2	UTSW	17	3518659	missense	probably damaging	1.00
R7051:Tiam2	UTSW	17	3448483	missense	probably damaging	0.99
R7151:Tiam2	UTSW	17	3448385	missense	probably benign	0.36
R7214:Tiam2	UTSW	17	3518412	missense	possibly damaging	0.85
R7332:Tiam2	UTSW	17	3453369	missense	probably damaging	1.00
R7334:Tiam2	UTSW	17	3503008	missense	possibly damaging	0.92
R7414:Tiam2	UTSW	17	3414113	missense	possibly damaging	0.54
R7660:Tiam2	UTSW	17	3482605	start codon destroyed	probably null	0.66
R7743:Tiam2	UTSW	17	3518156	missense	possibly damaging	0.53
R7755:Tiam2	UTSW	17	3421316	missense	probably benign	0.01
R7805:Tiam2	UTSW	17	3509410	missense	probably damaging	1.00
R7813:Tiam2	UTSW	17	3437247	missense	probably damaging	1.00
R7842:Tiam2	UTSW	17	3518124	missense	possibly damaging	0.82
R7989:Tiam2	UTSW	17	3518249	nonsense	probably null
R8011:Tiam2	UTSW	17	3448396	missense	possibly damaging	0.92
R8221:Tiam2	UTSW	17	3518585	missense	probably damaging	0.99
R8260:Tiam2	UTSW	17	3518319	missense	possibly damaging	0.94
R8292:Tiam2	UTSW	17	3506867	missense	probably benign	0.01
R8406:Tiam2	UTSW	17	3507790	missense	possibly damaging	0.94
R8424:Tiam2	UTSW	17	3516041	missense	probably damaging	1.00
R8424:Tiam2	UTSW	17	3516042	missense	probably damaging	1.00
R8430:Tiam2	UTSW	17	3518262	missense	probably benign	0.05
X0027:Tiam2	UTSW	17	3414000	start codon destroyed	probably null	1.00
X0060:Tiam2	UTSW	17	3450354	splice site	probably null
X0065:Tiam2	UTSW	17	3505708	missense	probably damaging	1.00
Z1088:Tiam2	UTSW	17	3415019	missense	probably benign	0.01
Z1176:Tiam2	UTSW	17	3505776	missense	probably null	1.00
Z1177:Tiam2	UTSW	17	3427263	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCGCTGTATGAATACATGCAAGAG -3'
(R):5'- ACTGTCCCCAGTATGTCACATGCC -3'

Sequencing Primer
(F):5'- gttctgaccttcctgcttcc -3'
(R):5'- GTATGTCACATGCCTTACCAAC -3'

Posted On

2013-05-09