Mutagenetix > Incidental Mutation

Incidental Mutation 'R6758:Tiam2'

531120

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

STEF, 3000002F19Rik

MMRRC Submission

044874-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6758 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3376675-3569672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3568678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1608 (D1608G)

Ref Sequence

ENSEMBL: ENSMUSP00000125842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041003] [ENSMUST00000072156] [ENSMUST00000169838] [ENSMUST00000227405]

AlphaFold

Q6ZPF3

Predicted Effect

probably benign
Transcript: ENSMUST00000041003

SMART Domains

Protein: ENSMUSP00000035291
Gene: ENSMUSG00000036983

Domain	Start	End	E-Value	Type
rADc	43	234	5.56e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072156
AA Change: D1608G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: D1608G

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: ENSMUST00000169838
AA Change: D1608G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: D1608G

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

noncoding transcript
Transcript: ENSMUST00000226434

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226997

Predicted Effect

probably benign
Transcript: ENSMUST00000227405

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.9%

Validation Efficiency

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	T	5: 90,411,172 (GRCm39)	D1374E	probably damaging	Het
Cd96	C	A	16: 45,938,367 (GRCm39)	V33L	possibly damaging	Het
Drd1	T	C	13: 54,207,308 (GRCm39)	E295G	probably benign	Het
Fzd8	T	A	18: 9,213,238 (GRCm39)	C107S	possibly damaging	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm11595	C	A	11: 99,663,366 (GRCm39)	V105L	unknown	Het
Gm11595	A	T	11: 99,663,367 (GRCm39)	C104*	probably null	Het
Igsf3	T	C	3: 101,332,814 (GRCm39)	Y31H	probably damaging	Het
Ikzf2	A	T	1: 69,578,059 (GRCm39)	H483Q	probably damaging	Het
Itgbl1	A	G	14: 124,094,901 (GRCm39)	K309E	probably benign	Het
Myt1l	T	G	12: 29,892,599 (GRCm39)	Y79D	possibly damaging	Het
Nid2	T	A	14: 19,852,551 (GRCm39)	S1086R	probably damaging	Het
Or1o1	A	G	17: 37,716,586 (GRCm39)	D49G	probably damaging	Het
Or5h24	T	C	16: 58,919,328 (GRCm39)	E9G	probably damaging	Het
Or6c65	T	C	10: 129,603,920 (GRCm39)	I185T	probably damaging	Het
Rorc	A	G	3: 94,294,825 (GRCm39)	N51S	possibly damaging	Het
Sanbr	T	C	11: 23,538,475 (GRCm39)		probably null	Het
Simc1	C	T	13: 54,673,361 (GRCm39)	P570S	possibly damaging	Het
Smn1	T	A	13: 100,268,946 (GRCm39)	M264K	possibly damaging	Het
Tll1	C	A	8: 64,494,439 (GRCm39)		probably null	Het
Trim15	A	G	17: 37,173,233 (GRCm39)	L284P	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
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
R7813:Tiam2	UTSW	17	3,487,522 (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'- GCAACTCACTGGACTCAGATGAG -3'
(R):5'- TGCGCCTTGAGCAAAGTTCC -3'

Sequencing Primer
(F):5'- CTCAGATGAGTGCAGCCTGAG -3'
(R):5'- GAGCAAAGTTCCTCTGCCC -3'

Posted On

2018-08-01