Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Tiam2'

241232

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

3000002F19Rik, STEF

MMRRC Submission

040219-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3326573-3531344 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3415114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 373 (T373A)

Ref Sequence

ENSEMBL: ENSMUSP00000125842 (fasta)

Gene Model

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

AlphaFold

Q6ZPF3

Predicted Effect

probably benign
Transcript: ENSMUST00000072156
AA Change: T373A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: T373A

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: T373A

PolyPhen 2 Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: T373A

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: ENSMUST00000226905

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496 (GRCm38)	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962 (GRCm38)	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737 (GRCm38)	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077 (GRCm38)	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407 (GRCm38)	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867 (GRCm38)	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219 (GRCm38)	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090 (GRCm38)	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827 (GRCm38)	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472 (GRCm38)	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907 (GRCm38)	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072 (GRCm38)	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728 (GRCm38)	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm7535	A	G	17: 17,911,674 (GRCm38)		probably benign	Het
Gpat4	G	A	8: 23,180,155 (GRCm38)	P286L	probably damaging	Het
Hmcn2	A	T	2: 31,350,574 (GRCm38)	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506 (GRCm38)	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672 (GRCm38)	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376 (GRCm38)	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724 (GRCm38)		probably null	Het
Nlrp4c	T	C	7: 6,073,114 (GRCm38)	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761 (GRCm38)	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426 (GRCm38)	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203 (GRCm38)	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681 (GRCm38)		probably null	Het
Phf6	A	T	X: 52,942,648 (GRCm38)	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748 (GRCm38)	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685 (GRCm38)		probably null	Het
Pp2d1	C	A	17: 53,515,454 (GRCm38)	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938 (GRCm38)	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728 (GRCm38)	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516 (GRCm38)	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752 (GRCm38)	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671 (GRCm38)	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706 (GRCm38)		probably null	Het
Timd2	T	A	11: 46,687,017 (GRCm38)	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301 (GRCm38)	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658 (GRCm38)	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182 (GRCm38)	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889 (GRCm38)	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924 (GRCm38)	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306 (GRCm38)		probably benign	Het
Zbtb22	T	G	17: 33,917,965 (GRCm38)	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111 (GRCm38)	L143P	possibly damaging	Het

Other mutations in Tiam2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Tiam2	APN	17	3,415,028 (GRCm38)	missense	probably benign	0.21
IGL01320:Tiam2	APN	17	3,505,745 (GRCm38)	missense	probably damaging	1.00
IGL01384:Tiam2	APN	17	3,427,202 (GRCm38)	missense	probably benign	0.08
IGL01575:Tiam2	APN	17	3,454,316 (GRCm38)	missense	probably damaging	1.00
IGL01769:Tiam2	APN	17	3,427,290 (GRCm38)	missense	probably damaging	1.00
IGL02395:Tiam2	APN	17	3,421,481 (GRCm38)	missense	possibly damaging	0.49
IGL02652:Tiam2	APN	17	3,439,696 (GRCm38)	splice site	probably benign
IGL03102:Tiam2	APN	17	3,509,548 (GRCm38)	missense	probably damaging	1.00
IGL03222:Tiam2	APN	17	3,438,708 (GRCm38)	missense	probably damaging	0.97
Feste_burg	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R0257:Tiam2	UTSW	17	3,450,813 (GRCm38)	missense	possibly damaging	0.49
R0420:Tiam2	UTSW	17	3,502,918 (GRCm38)	missense	probably benign	0.01
R0528:Tiam2	UTSW	17	3,511,071 (GRCm38)	missense	probably damaging	1.00
R0532:Tiam2	UTSW	17	3,421,646 (GRCm38)	missense	probably damaging	1.00
R0551:Tiam2	UTSW	17	3,428,954 (GRCm38)	missense	probably damaging	1.00
R0554:Tiam2	UTSW	17	3,438,681 (GRCm38)	nonsense	probably null
R0645:Tiam2	UTSW	17	3,514,698 (GRCm38)	missense	possibly damaging	0.92
R0726:Tiam2	UTSW	17	3,512,833 (GRCm38)	unclassified	probably benign
R1139:Tiam2	UTSW	17	3,477,267 (GRCm38)	missense	possibly damaging	0.55
R1392:Tiam2	UTSW	17	3,414,197 (GRCm38)	missense	possibly damaging	0.71
R1392:Tiam2	UTSW	17	3,414,197 (GRCm38)	missense	possibly damaging	0.71
R1529:Tiam2	UTSW	17	3,516,703 (GRCm38)	missense	probably benign	0.00
R1671:Tiam2	UTSW	17	3,506,834 (GRCm38)	missense	probably damaging	1.00
R1731:Tiam2	UTSW	17	3,518,423 (GRCm38)	missense	probably damaging	0.98
R1759:Tiam2	UTSW	17	3,516,003 (GRCm38)	missense	probably damaging	0.98
R1850:Tiam2	UTSW	17	3,437,235 (GRCm38)	missense	probably damaging	1.00
R1853:Tiam2	UTSW	17	3,415,135 (GRCm38)	missense	probably damaging	1.00
R1855:Tiam2	UTSW	17	3,415,135 (GRCm38)	missense	probably damaging	1.00
R1931:Tiam2	UTSW	17	3,514,725 (GRCm38)	missense	possibly damaging	0.68
R1932:Tiam2	UTSW	17	3,514,725 (GRCm38)	missense	possibly damaging	0.68
R1993:Tiam2	UTSW	17	3,415,126 (GRCm38)	nonsense	probably null
R2211:Tiam2	UTSW	17	3,414,918 (GRCm38)	nonsense	probably null
R2278:Tiam2	UTSW	17	3,427,220 (GRCm38)	missense	probably damaging	0.96
R2407:Tiam2	UTSW	17	3,477,261 (GRCm38)	missense	probably benign	0.14
R2516:Tiam2	UTSW	17	3,453,382 (GRCm38)	missense	probably damaging	1.00
R2991:Tiam2	UTSW	17	3,518,250 (GRCm38)	missense	probably benign
R3086:Tiam2	UTSW	17	3,421,582 (GRCm38)	missense	probably damaging	1.00
R3121:Tiam2	UTSW	17	3,439,702 (GRCm38)	missense	probably benign	0.01
R3686:Tiam2	UTSW	17	3,421,684 (GRCm38)	missense	possibly damaging	0.87
R3740:Tiam2	UTSW	17	3,414,113 (GRCm38)	missense	possibly damaging	0.54
R3742:Tiam2	UTSW	17	3,414,113 (GRCm38)	missense	possibly damaging	0.54
R3826:Tiam2	UTSW	17	3,507,701 (GRCm38)	splice site	probably benign
R3829:Tiam2	UTSW	17	3,507,701 (GRCm38)	splice site	probably benign
R3844:Tiam2	UTSW	17	3,421,651 (GRCm38)	missense	probably damaging	0.98
R3970:Tiam2	UTSW	17	3,428,831 (GRCm38)	missense	probably damaging	1.00
R4060:Tiam2	UTSW	17	3,428,980 (GRCm38)	missense	probably benign	0.00
R4296:Tiam2	UTSW	17	3,450,845 (GRCm38)	missense	probably benign
R4357:Tiam2	UTSW	17	3,450,853 (GRCm38)	missense	probably damaging	1.00
R4368:Tiam2	UTSW	17	3,414,683 (GRCm38)	missense	probably benign	0.01
R4369:Tiam2	UTSW	17	3,413,967 (GRCm38)	start gained	probably benign
R4524:Tiam2	UTSW	17	3,514,711 (GRCm38)	missense	probably damaging	1.00
R4619:Tiam2	UTSW	17	3,518,342 (GRCm38)	missense	probably damaging	1.00
R4715:Tiam2	UTSW	17	3,454,168 (GRCm38)	missense	probably damaging	1.00
R4723:Tiam2	UTSW	17	3,450,317 (GRCm38)	missense	probably benign	0.00
R4979:Tiam2	UTSW	17	3,505,710 (GRCm38)	missense	probably damaging	1.00
R5182:Tiam2	UTSW	17	3,438,721 (GRCm38)	missense	probably damaging	1.00
R5451:Tiam2	UTSW	17	3,428,996 (GRCm38)	missense	probably damaging	1.00
R5728:Tiam2	UTSW	17	3,414,956 (GRCm38)	missense	probably damaging	0.99
R5827:Tiam2	UTSW	17	3,448,489 (GRCm38)	missense	probably benign	0.00
R5879:Tiam2	UTSW	17	3,437,265 (GRCm38)	missense	probably damaging	1.00
R5960:Tiam2	UTSW	17	3,438,640 (GRCm38)	missense	probably benign	0.24
R5974:Tiam2	UTSW	17	3,414,809 (GRCm38)	missense	possibly damaging	0.51
R6198:Tiam2	UTSW	17	3,414,121 (GRCm38)	missense	probably benign	0.06
R6222:Tiam2	UTSW	17	3,453,338 (GRCm38)	missense	probably damaging	0.96
R6295:Tiam2	UTSW	17	3,509,556 (GRCm38)	missense	probably damaging	1.00
R6355:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6356:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6454:Tiam2	UTSW	17	3,438,663 (GRCm38)	missense	probably benign	0.00
R6497:Tiam2	UTSW	17	3,506,827 (GRCm38)	missense	probably damaging	1.00
R6579:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6580:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6581:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6582:Tiam2	UTSW	17	3,414,622 (GRCm38)	frame shift	probably null
R6648:Tiam2	UTSW	17	3,506,873 (GRCm38)	missense	probably damaging	1.00
R6705:Tiam2	UTSW	17	3,518,243 (GRCm38)	missense	probably benign	0.01
R6758:Tiam2	UTSW	17	3,518,403 (GRCm38)	missense	probably benign	0.01
R6836:Tiam2	UTSW	17	3,414,380 (GRCm38)	missense	probably benign	0.17
R6924:Tiam2	UTSW	17	3,507,795 (GRCm38)	missense	probably damaging	1.00
R6977:Tiam2	UTSW	17	3,518,659 (GRCm38)	missense	probably damaging	1.00
R7051:Tiam2	UTSW	17	3,448,483 (GRCm38)	missense	probably damaging	0.99
R7151:Tiam2	UTSW	17	3,448,385 (GRCm38)	missense	probably benign	0.36
R7214:Tiam2	UTSW	17	3,518,412 (GRCm38)	missense	possibly damaging	0.85
R7332:Tiam2	UTSW	17	3,453,369 (GRCm38)	missense	probably damaging	1.00
R7334:Tiam2	UTSW	17	3,503,008 (GRCm38)	missense	possibly damaging	0.92
R7414:Tiam2	UTSW	17	3,414,113 (GRCm38)	missense	possibly damaging	0.54
R7660:Tiam2	UTSW	17	3,482,605 (GRCm38)	start codon destroyed	probably null	0.66
R7743:Tiam2	UTSW	17	3,518,156 (GRCm38)	missense	possibly damaging	0.53
R7755:Tiam2	UTSW	17	3,421,316 (GRCm38)	missense	probably benign	0.01
R7805:Tiam2	UTSW	17	3,509,410 (GRCm38)	missense	probably damaging	1.00
R7813:Tiam2	UTSW	17	3,437,247 (GRCm38)	missense	probably damaging	1.00
R7842:Tiam2	UTSW	17	3,518,124 (GRCm38)	missense	possibly damaging	0.82
R7989:Tiam2	UTSW	17	3,518,249 (GRCm38)	nonsense	probably null
R8011:Tiam2	UTSW	17	3,448,396 (GRCm38)	missense	possibly damaging	0.92
R8221:Tiam2	UTSW	17	3,518,585 (GRCm38)	missense	probably damaging	0.99
R8260:Tiam2	UTSW	17	3,518,319 (GRCm38)	missense	possibly damaging	0.94
R8292:Tiam2	UTSW	17	3,506,867 (GRCm38)	missense	probably benign	0.01
R8406:Tiam2	UTSW	17	3,507,790 (GRCm38)	missense	possibly damaging	0.94
R8424:Tiam2	UTSW	17	3,516,042 (GRCm38)	missense	probably damaging	1.00
R8424:Tiam2	UTSW	17	3,516,041 (GRCm38)	missense	probably damaging	1.00
R8430:Tiam2	UTSW	17	3,518,262 (GRCm38)	missense	probably benign	0.05
R8530:Tiam2	UTSW	17	3,450,812 (GRCm38)	missense	probably benign	0.03
R8692:Tiam2	UTSW	17	3,428,807 (GRCm38)	missense	probably damaging	1.00
R8902:Tiam2	UTSW	17	3,477,196 (GRCm38)	missense	probably benign	0.00
R9067:Tiam2	UTSW	17	3,511,132 (GRCm38)	missense	probably damaging	1.00
R9080:Tiam2	UTSW	17	3,414,244 (GRCm38)	missense	probably benign
R9090:Tiam2	UTSW	17	3,414,736 (GRCm38)	missense	probably damaging	1.00
R9211:Tiam2	UTSW	17	3,448,454 (GRCm38)	missense	possibly damaging	0.94
R9271:Tiam2	UTSW	17	3,414,736 (GRCm38)	missense	probably damaging	1.00
R9347:Tiam2	UTSW	17	3,421,648 (GRCm38)	missense	probably benign	0.37
R9353:Tiam2	UTSW	17	3,507,799 (GRCm38)	nonsense	probably null
R9407:Tiam2	UTSW	17	3,503,023 (GRCm38)	missense	probably damaging	1.00
R9460:Tiam2	UTSW	17	3,437,310 (GRCm38)	missense	probably damaging	1.00
R9550:Tiam2	UTSW	17	3,509,431 (GRCm38)	missense	probably damaging	1.00
R9748:Tiam2	UTSW	17	3,511,165 (GRCm38)	missense	probably benign	0.20
X0027:Tiam2	UTSW	17	3,414,000 (GRCm38)	start codon destroyed	probably null	1.00
X0060:Tiam2	UTSW	17	3,450,354 (GRCm38)	splice site	probably null
X0065:Tiam2	UTSW	17	3,505,708 (GRCm38)	missense	probably damaging	1.00
Z1088:Tiam2	UTSW	17	3,415,019 (GRCm38)	missense	probably benign	0.01
Z1176:Tiam2	UTSW	17	3,505,776 (GRCm38)	missense	probably null	1.00
Z1177:Tiam2	UTSW	17	3,427,263 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGGGAATTGTACAAAGATCCC -3'
(R):5'- TGTTATAAAGGCTTCCTTGGCC -3'

Sequencing Primer
(F):5'- GGAATTGTACAAAGATCCCAACCTGG -3'
(R):5'- CCGGCTTACCTGAGGTTCTG -3'

Posted On

2014-10-15