Mutagenetix > Incidental Mutation

Incidental Mutation 'R7813:Tiam2'

601314

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

STEF, 3000002F19Rik

MMRRC Submission

045868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3376675-3569672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3487522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 681 (N681I)

Ref Sequence

ENSEMBL: ENSMUSP00000072020 (fasta)

Gene Model

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

AlphaFold

Q6ZPF3

PDB Structure

Crystal structure of the Tiam2 PHCCEx domain [X-RAY DIFFRACTION]
Low-resolution crystal structure of the Tiam2 PHCCEx domain [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072156
AA Change: N681I

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

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: N681I

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 damaging
Transcript: ENSMUST00000169838
AA Change: N681I

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

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: N681I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,100,896 (GRCm39)	R423K	probably benign	Het
Acot7	T	C	4: 152,307,575 (GRCm39)	S170P	probably damaging	Het
Arhgap40	A	G	2: 158,380,620 (GRCm39)	Q341R	probably benign	Het
Arhgef28	T	C	13: 98,082,189 (GRCm39)	E1206G	possibly damaging	Het
Arpp21	T	A	9: 112,008,133 (GRCm39)	K122N	probably damaging	Het
Arsi	T	C	18: 61,049,726 (GRCm39)	L203P	possibly damaging	Het
C1rb	A	T	6: 124,557,488 (GRCm39)	I542F	probably benign	Het
Cadm3	C	A	1: 173,171,956 (GRCm39)	V206L	probably benign	Het
Card11	T	C	5: 140,885,419 (GRCm39)	D380G	probably damaging	Het
Ccdc42	A	T	11: 68,488,534 (GRCm39)	Q164L	probably benign	Het
Ccnd1	A	G	7: 144,491,622 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,871,578 (GRCm39)	D98G	probably damaging	Het
Chrd	A	G	16: 20,554,155 (GRCm39)	T336A	probably benign	Het
Clca3a2	C	A	3: 144,790,726 (GRCm39)	A449S	probably benign	Het
Dnah7a	A	G	1: 53,657,245 (GRCm39)	F844L	probably benign	Het
Fbxo11	T	A	17: 88,308,245 (GRCm39)	I480F		Het
Fcrl5	A	G	3: 87,350,930 (GRCm39)	T147A	probably benign	Het
Gm15130	T	A	2: 110,969,320 (GRCm39)	I133F		Het
Gpr155	C	T	2: 73,212,329 (GRCm39)	W98*	probably null	Het
Hspa4	A	G	11: 53,162,863 (GRCm39)	S408P	probably damaging	Het
Il12rb2	G	A	6: 67,333,635 (GRCm39)	R215C	possibly damaging	Het
Itga5	T	A	15: 103,265,741 (GRCm39)		probably null	Het
Kcnip3	T	A	2: 127,323,703 (GRCm39)		probably null	Het
Krt12	A	G	11: 99,309,309 (GRCm39)		probably null	Het
Marchf3	A	T	18: 56,916,163 (GRCm39)	S177R	probably benign	Het
Minpp1	T	G	19: 32,468,803 (GRCm39)	F229V	probably damaging	Het
Muc2	G	A	7: 141,282,543 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,676,735 (GRCm39)	T906A	probably benign	Het
Myh13	A	G	11: 67,218,056 (GRCm39)	D43G	probably benign	Het
Nacad	C	T	11: 6,549,071 (GRCm39)	D1327N	probably benign	Het
Nbeal1	A	T	1: 60,331,048 (GRCm39)	Y2219F	probably damaging	Het
Nckap5	A	G	1: 125,953,163 (GRCm39)	S1130P	probably benign	Het
Pfkfb3	T	C	2: 11,486,719 (GRCm39)	N415S	probably benign	Het
Plxdc2	A	G	2: 16,665,678 (GRCm39)	I293V	possibly damaging	Het
Prpf38a	A	T	4: 108,436,277 (GRCm39)	I12N	probably damaging	Het
Ptprt	C	T	2: 161,372,413 (GRCm39)	V1420M	probably damaging	Het
Qars1	A	G	9: 108,386,670 (GRCm39)	D161G	probably damaging	Het
Scaf8	T	A	17: 3,247,549 (GRCm39)	D957E	probably damaging	Het
Scn7a	T	C	2: 66,506,689 (GRCm39)	Y1400C	probably damaging	Het
Sis	T	C	3: 72,832,801 (GRCm39)	I999V	probably benign	Het
Sorcs2	A	T	5: 36,181,958 (GRCm39)	L1054H	probably damaging	Het
Sptbn1	C	T	11: 30,088,455 (GRCm39)	A906T	probably damaging	Het
Srd5a2	A	G	17: 74,331,541 (GRCm39)	F152S	probably benign	Het
Stkld1	T	A	2: 26,835,888 (GRCm39)	L241*	probably null	Het
Strip2	A	T	6: 29,923,912 (GRCm39)		probably null	Het
Tcaf1	A	C	6: 42,650,363 (GRCm39)	Y905*	probably null	Het
Tet2	T	C	3: 133,179,404 (GRCm39)	I1254V	probably benign	Het
Trappc6a	A	G	7: 19,248,124 (GRCm39)		probably null	Het
Trav12-2	A	T	14: 53,854,223 (GRCm39)	K66*	probably null	Het
Ttn	T	A	2: 76,597,841 (GRCm39)	I19691F	probably damaging	Het
Tubgcp5	A	T	7: 55,450,444 (GRCm39)	Q185L	possibly damaging	Het
Vmn1r44	A	T	6: 89,869,192 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,628,820 (GRCm39)	D2717G	possibly damaging	Het
Vps13d	A	T	4: 144,904,633 (GRCm39)	Y133*	probably null	Het
Zer1	T	C	2: 30,000,385 (GRCm39)	D265G	probably damaging	Het
Zfp710	A	G	7: 79,730,859 (GRCm39)	D12G	possibly damaging	Het
Zfp819	T	C	7: 43,266,191 (GRCm39)	S225P	probably benign	Het

Other mutations in Tiam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Tiam2	APN	17	3,465,303 (GRCm39)	missense	probably benign	0.21
IGL01320:Tiam2	APN	17	3,556,020 (GRCm39)	missense	probably damaging	1.00
IGL01384:Tiam2	APN	17	3,477,477 (GRCm39)	missense	probably benign	0.08
IGL01575:Tiam2	APN	17	3,504,591 (GRCm39)	missense	probably damaging	1.00
IGL01769:Tiam2	APN	17	3,477,565 (GRCm39)	missense	probably damaging	1.00
IGL02395:Tiam2	APN	17	3,471,756 (GRCm39)	missense	possibly damaging	0.49
IGL02652:Tiam2	APN	17	3,489,971 (GRCm39)	splice site	probably benign
IGL03102:Tiam2	APN	17	3,559,823 (GRCm39)	missense	probably damaging	1.00
IGL03222:Tiam2	APN	17	3,488,983 (GRCm39)	missense	probably damaging	0.97
Feste_burg	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R0257:Tiam2	UTSW	17	3,501,088 (GRCm39)	missense	possibly damaging	0.49
R0420:Tiam2	UTSW	17	3,553,193 (GRCm39)	missense	probably benign	0.01
R0528:Tiam2	UTSW	17	3,561,346 (GRCm39)	missense	probably damaging	1.00
R0532:Tiam2	UTSW	17	3,471,921 (GRCm39)	missense	probably damaging	1.00
R0551:Tiam2	UTSW	17	3,479,229 (GRCm39)	missense	probably damaging	1.00
R0554:Tiam2	UTSW	17	3,488,956 (GRCm39)	nonsense	probably null
R0645:Tiam2	UTSW	17	3,564,973 (GRCm39)	missense	possibly damaging	0.92
R0726:Tiam2	UTSW	17	3,563,108 (GRCm39)	unclassified	probably benign
R1139:Tiam2	UTSW	17	3,527,542 (GRCm39)	missense	possibly damaging	0.55
R1392:Tiam2	UTSW	17	3,464,472 (GRCm39)	missense	possibly damaging	0.71
R1392:Tiam2	UTSW	17	3,464,472 (GRCm39)	missense	possibly damaging	0.71
R1529:Tiam2	UTSW	17	3,566,978 (GRCm39)	missense	probably benign	0.00
R1671:Tiam2	UTSW	17	3,557,109 (GRCm39)	missense	probably damaging	1.00
R1731:Tiam2	UTSW	17	3,568,698 (GRCm39)	missense	probably damaging	0.98
R1759:Tiam2	UTSW	17	3,566,278 (GRCm39)	missense	probably damaging	0.98
R1850:Tiam2	UTSW	17	3,487,510 (GRCm39)	missense	probably damaging	1.00
R1853:Tiam2	UTSW	17	3,465,410 (GRCm39)	missense	probably damaging	1.00
R1855:Tiam2	UTSW	17	3,465,410 (GRCm39)	missense	probably damaging	1.00
R1931:Tiam2	UTSW	17	3,565,000 (GRCm39)	missense	possibly damaging	0.68
R1932:Tiam2	UTSW	17	3,565,000 (GRCm39)	missense	possibly damaging	0.68
R1993:Tiam2	UTSW	17	3,465,401 (GRCm39)	nonsense	probably null
R2211:Tiam2	UTSW	17	3,465,193 (GRCm39)	nonsense	probably null
R2217:Tiam2	UTSW	17	3,465,389 (GRCm39)	missense	probably benign	0.34
R2278:Tiam2	UTSW	17	3,477,495 (GRCm39)	missense	probably damaging	0.96
R2407:Tiam2	UTSW	17	3,527,536 (GRCm39)	missense	probably benign	0.14
R2516:Tiam2	UTSW	17	3,503,657 (GRCm39)	missense	probably damaging	1.00
R2991:Tiam2	UTSW	17	3,568,525 (GRCm39)	missense	probably benign
R3086:Tiam2	UTSW	17	3,471,857 (GRCm39)	missense	probably damaging	1.00
R3121:Tiam2	UTSW	17	3,489,977 (GRCm39)	missense	probably benign	0.01
R3686:Tiam2	UTSW	17	3,471,959 (GRCm39)	missense	possibly damaging	0.87
R3740:Tiam2	UTSW	17	3,464,388 (GRCm39)	missense	possibly damaging	0.54
R3742:Tiam2	UTSW	17	3,464,388 (GRCm39)	missense	possibly damaging	0.54
R3826:Tiam2	UTSW	17	3,557,976 (GRCm39)	splice site	probably benign
R3829:Tiam2	UTSW	17	3,557,976 (GRCm39)	splice site	probably benign
R3844:Tiam2	UTSW	17	3,471,926 (GRCm39)	missense	probably damaging	0.98
R3970:Tiam2	UTSW	17	3,479,106 (GRCm39)	missense	probably damaging	1.00
R4060:Tiam2	UTSW	17	3,479,255 (GRCm39)	missense	probably benign	0.00
R4296:Tiam2	UTSW	17	3,501,120 (GRCm39)	missense	probably benign
R4357:Tiam2	UTSW	17	3,501,128 (GRCm39)	missense	probably damaging	1.00
R4368:Tiam2	UTSW	17	3,464,958 (GRCm39)	missense	probably benign	0.01
R4369:Tiam2	UTSW	17	3,464,242 (GRCm39)	start gained	probably benign
R4524:Tiam2	UTSW	17	3,564,986 (GRCm39)	missense	probably damaging	1.00
R4619:Tiam2	UTSW	17	3,568,617 (GRCm39)	missense	probably damaging	1.00
R4715:Tiam2	UTSW	17	3,504,443 (GRCm39)	missense	probably damaging	1.00
R4723:Tiam2	UTSW	17	3,500,592 (GRCm39)	missense	probably benign	0.00
R4979:Tiam2	UTSW	17	3,555,985 (GRCm39)	missense	probably damaging	1.00
R5182:Tiam2	UTSW	17	3,488,996 (GRCm39)	missense	probably damaging	1.00
R5451:Tiam2	UTSW	17	3,479,271 (GRCm39)	missense	probably damaging	1.00
R5728:Tiam2	UTSW	17	3,465,231 (GRCm39)	missense	probably damaging	0.99
R5827:Tiam2	UTSW	17	3,498,764 (GRCm39)	missense	probably benign	0.00
R5879:Tiam2	UTSW	17	3,487,540 (GRCm39)	missense	probably damaging	1.00
R5960:Tiam2	UTSW	17	3,488,915 (GRCm39)	missense	probably benign	0.24
R5974:Tiam2	UTSW	17	3,465,084 (GRCm39)	missense	possibly damaging	0.51
R6198:Tiam2	UTSW	17	3,464,396 (GRCm39)	missense	probably benign	0.06
R6222:Tiam2	UTSW	17	3,503,613 (GRCm39)	missense	probably damaging	0.96
R6295:Tiam2	UTSW	17	3,559,831 (GRCm39)	missense	probably damaging	1.00
R6355:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6356:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6454:Tiam2	UTSW	17	3,488,938 (GRCm39)	missense	probably benign	0.00
R6497:Tiam2	UTSW	17	3,557,102 (GRCm39)	missense	probably damaging	1.00
R6579:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6580:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6581:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6582:Tiam2	UTSW	17	3,464,897 (GRCm39)	frame shift	probably null
R6648:Tiam2	UTSW	17	3,557,148 (GRCm39)	missense	probably damaging	1.00
R6705:Tiam2	UTSW	17	3,568,518 (GRCm39)	missense	probably benign	0.01
R6758:Tiam2	UTSW	17	3,568,678 (GRCm39)	missense	probably benign	0.01
R6836:Tiam2	UTSW	17	3,464,655 (GRCm39)	missense	probably benign	0.17
R6924:Tiam2	UTSW	17	3,558,070 (GRCm39)	missense	probably damaging	1.00
R6977:Tiam2	UTSW	17	3,568,934 (GRCm39)	missense	probably damaging	1.00
R7051:Tiam2	UTSW	17	3,498,758 (GRCm39)	missense	probably damaging	0.99
R7151:Tiam2	UTSW	17	3,498,660 (GRCm39)	missense	probably benign	0.36
R7214:Tiam2	UTSW	17	3,568,687 (GRCm39)	missense	possibly damaging	0.85
R7332:Tiam2	UTSW	17	3,503,644 (GRCm39)	missense	probably damaging	1.00
R7334:Tiam2	UTSW	17	3,553,283 (GRCm39)	missense	possibly damaging	0.92
R7414:Tiam2	UTSW	17	3,464,388 (GRCm39)	missense	possibly damaging	0.54
R7660:Tiam2	UTSW	17	3,532,880 (GRCm39)	start codon destroyed	probably null	0.66
R7743:Tiam2	UTSW	17	3,568,431 (GRCm39)	missense	possibly damaging	0.53
R7755:Tiam2	UTSW	17	3,471,591 (GRCm39)	missense	probably benign	0.01
R7805:Tiam2	UTSW	17	3,559,685 (GRCm39)	missense	probably damaging	1.00
R7842:Tiam2	UTSW	17	3,568,399 (GRCm39)	missense	possibly damaging	0.82
R7989:Tiam2	UTSW	17	3,568,524 (GRCm39)	nonsense	probably null
R8011:Tiam2	UTSW	17	3,498,671 (GRCm39)	missense	possibly damaging	0.92
R8221:Tiam2	UTSW	17	3,568,860 (GRCm39)	missense	probably damaging	0.99
R8260:Tiam2	UTSW	17	3,568,594 (GRCm39)	missense	possibly damaging	0.94
R8292:Tiam2	UTSW	17	3,557,142 (GRCm39)	missense	probably benign	0.01
R8406:Tiam2	UTSW	17	3,558,065 (GRCm39)	missense	possibly damaging	0.94
R8424:Tiam2	UTSW	17	3,566,317 (GRCm39)	missense	probably damaging	1.00
R8424:Tiam2	UTSW	17	3,566,316 (GRCm39)	missense	probably damaging	1.00
R8430:Tiam2	UTSW	17	3,568,537 (GRCm39)	missense	probably benign	0.05
R8530:Tiam2	UTSW	17	3,501,087 (GRCm39)	missense	probably benign	0.03
R8692:Tiam2	UTSW	17	3,479,082 (GRCm39)	missense	probably damaging	1.00
R8902:Tiam2	UTSW	17	3,527,471 (GRCm39)	missense	probably benign	0.00
R9067:Tiam2	UTSW	17	3,561,407 (GRCm39)	missense	probably damaging	1.00
R9080:Tiam2	UTSW	17	3,464,519 (GRCm39)	missense	probably benign
R9090:Tiam2	UTSW	17	3,465,011 (GRCm39)	missense	probably damaging	1.00
R9211:Tiam2	UTSW	17	3,498,729 (GRCm39)	missense	possibly damaging	0.94
R9271:Tiam2	UTSW	17	3,465,011 (GRCm39)	missense	probably damaging	1.00
R9347:Tiam2	UTSW	17	3,471,923 (GRCm39)	missense	probably benign	0.37
R9353:Tiam2	UTSW	17	3,558,074 (GRCm39)	nonsense	probably null
R9407:Tiam2	UTSW	17	3,553,298 (GRCm39)	missense	probably damaging	1.00
R9460:Tiam2	UTSW	17	3,487,585 (GRCm39)	missense	probably damaging	1.00
R9550:Tiam2	UTSW	17	3,559,706 (GRCm39)	missense	probably damaging	1.00
R9748:Tiam2	UTSW	17	3,561,440 (GRCm39)	missense	probably benign	0.20
X0027:Tiam2	UTSW	17	3,464,275 (GRCm39)	start codon destroyed	probably null	1.00
X0060:Tiam2	UTSW	17	3,500,629 (GRCm39)	splice site	probably null
X0065:Tiam2	UTSW	17	3,555,983 (GRCm39)	missense	probably damaging	1.00
Z1088:Tiam2	UTSW	17	3,465,294 (GRCm39)	missense	probably benign	0.01
Z1176:Tiam2	UTSW	17	3,556,051 (GRCm39)	missense	probably null	1.00
Z1177:Tiam2	UTSW	17	3,477,538 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTGTCTGTGTAGGACCATGAC -3'
(R):5'- TCCCCAGGAACTTACCAGAG -3'

Sequencing Primer
(F):5'- GTAGGACCATGACCTAGTAAGTTCC -3'
(R):5'- CAGAGCATGGAAAGACGAAACAGAC -3'

Posted On

2019-11-26