Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Tiam2'

353987

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

STEF, 3000002F19Rik

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3376675-3569672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3504443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 982 (F982I)

Ref Sequence

ENSEMBL: ENSMUSP00000125842 (fasta)

Gene Model

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

AlphaFold

Q6ZPF3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072156
AA Change: F982I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: F982I

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: F982I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: F982I

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

0.4209

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,805,321 (GRCm39)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,217,626 (GRCm39)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,907,706 (GRCm39)	R179*	probably null	Het
Arap2	G	T	5: 62,906,437 (GRCm39)	T194K	probably benign	Het
Atf2	C	A	2: 73,653,644 (GRCm39)	V282F	probably damaging	Het
Atosa	T	A	9: 74,920,250 (GRCm39)	W799R	probably damaging	Het
Atp1a1	T	C	3: 101,499,122 (GRCm39)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,734,376 (GRCm39)	S258G	possibly damaging	Het
Bptf	G	T	11: 106,938,007 (GRCm39)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,017,560 (GRCm39)	V80A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,887 (GRCm39)	A11V	probably benign	Het
Cdh4	A	T	2: 179,422,260 (GRCm39)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,203,755 (GRCm39)	*191L	probably null	Het
Cfdp1	G	A	8: 112,557,523 (GRCm39)	T206I	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Clpx	A	C	9: 65,219,396 (GRCm39)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,889,268 (GRCm39)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,382,535 (GRCm39)	D275V	probably benign	Het
Dip2a	T	C	10: 76,132,240 (GRCm39)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,353,689 (GRCm39)		probably null	Het
Dnaaf5	A	T	5: 139,163,755 (GRCm39)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,584,788 (GRCm39)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,244,118 (GRCm39)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 63,045,530 (GRCm39)	M765L	probably benign	Het
E2f3	A	C	13: 30,095,258 (GRCm39)	C220W	probably damaging	Het
Elf3	C	T	1: 135,185,490 (GRCm39)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,649,775 (GRCm39)	V369E	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,690 (GRCm39)	G267R	probably benign	Het
Ggact	A	T	14: 123,129,047 (GRCm39)	L56Q	possibly damaging	Het
Gm5546	T	C	3: 104,273,824 (GRCm39)		noncoding transcript	Het
Gm8267	A	G	14: 44,955,292 (GRCm39)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,464,836 (GRCm39)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,660,466 (GRCm39)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,420,592 (GRCm39)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,513,563 (GRCm39)	D348G	possibly damaging	Het
Ifi205	T	C	1: 173,855,887 (GRCm39)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,969,575 (GRCm39)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,756,281 (GRCm39)	L169P	probably damaging	Het
Klf17	T	C	4: 117,617,733 (GRCm39)	D208G	probably benign	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,058,724 (GRCm39)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,644,329 (GRCm39)	V445A	probably benign	Het
Med11	T	C	11: 70,344,022 (GRCm39)	I114T	probably benign	Het
Moxd2	A	G	6: 40,864,181 (GRCm39)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,773,702 (GRCm39)		probably benign	Het
Mrps27	A	G	13: 99,551,323 (GRCm39)		probably null	Het
Nop58	T	C	1: 59,735,185 (GRCm39)	V75A	probably benign	Het
Or13p5	T	C	4: 118,591,852 (GRCm39)	L42P	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2t46	A	G	11: 58,472,255 (GRCm39)	D195G	probably damaging	Het
Or4k42	A	C	2: 111,320,089 (GRCm39)	M138R	probably benign	Het
Or7g19	A	G	9: 18,856,742 (GRCm39)	H266R	probably benign	Het
Or7g26	C	A	9: 19,230,443 (GRCm39)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,602 (GRCm39)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,852,690 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,259,366 (GRCm39)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,025,570 (GRCm39)	T543A	probably benign	Het
Pum2	T	A	12: 8,797,272 (GRCm39)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,740,243 (GRCm39)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,701,355 (GRCm39)	L193P	probably damaging	Het
Rif1	T	C	2: 51,963,151 (GRCm39)		probably benign	Het
Rspo2	A	T	15: 42,939,300 (GRCm39)	C163*	probably null	Het
Sco1	A	G	11: 66,947,425 (GRCm39)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,458,213 (GRCm39)	K490R	probably benign	Het
Siglec1	T	C	2: 130,916,356 (GRCm39)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,763,051 (GRCm39)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,179,893 (GRCm39)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,008,123 (GRCm39)	S988A	probably benign	Het
Tmc3	G	A	7: 83,271,604 (GRCm39)	V919I	probably benign	Het
Tmed2b	A	T	9: 33,639,784 (GRCm39)		noncoding transcript	Het
Tmem200c	A	T	17: 69,147,465 (GRCm39)	D16V	probably damaging	Het
Tmem37	A	T	1: 119,995,935 (GRCm39)	D47E	probably damaging	Het
Top3a	T	A	11: 60,633,823 (GRCm39)	R733*	probably null	Het
Treh	T	C	9: 44,594,615 (GRCm39)	V8A	probably benign	Het
Trim17	A	C	11: 58,859,276 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,927,896 (GRCm39)	K471E	probably damaging	Het
Usp8	T	A	2: 126,571,142 (GRCm39)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,300,708 (GRCm39)	M1L	unknown	Het
Yju2b	A	G	8: 84,990,503 (GRCm39)	I43T	probably damaging	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
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
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'- GTTTAAGCCTTGCAGATGCTATG -3'
(R):5'- GATGCGGAACACAGCCTTAC -3'

Sequencing Primer
(F):5'- AAGCCTTGCAGATGCTATGTTTCC -3'
(R):5'- CCACTCGTGGCGGTTTTTCTAAAG -3'

Posted On

2015-10-21