Mutagenetix > Incidental Mutation

Incidental Mutation 'R4296:Tiam2'

323361

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

STEF, 3000002F19Rik

MMRRC Submission

041656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3376675-3569672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3501120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 920 (M920L)

Ref Sequence

ENSEMBL: ENSMUSP00000125842 (fasta)

Gene Model

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

AlphaFold

Q6ZPF3

Predicted Effect

probably benign
Transcript: ENSMUST00000072156
AA Change: M920L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: M920L

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: M920L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: M920L

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,811,513 (GRCm39)	G993C	probably damaging	Het
Abcc2	G	C	19: 43,811,514 (GRCm39)	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,488,673 (GRCm39)	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,358,641 (GRCm39)	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,678,035 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,096,559 (GRCm39)		probably null	Het
Apbb1	G	T	7: 105,223,033 (GRCm39)	Q193K	probably benign	Het
Arl9	C	A	5: 77,154,396 (GRCm39)	N41K	probably damaging	Het
Armc1	A	G	3: 19,203,680 (GRCm39)	M82T	probably damaging	Het
Bms1	T	C	6: 118,381,960 (GRCm39)	E526G	probably damaging	Het
Cacna1a	C	T	8: 85,285,922 (GRCm39)	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,610,033 (GRCm39)	I84T	probably damaging	Het
Cgrrf1	T	C	14: 47,069,812 (GRCm39)	V27A	probably damaging	Het
Clec4f	G	A	6: 83,629,557 (GRCm39)	Q334*	probably null	Het
Cpeb3	C	T	19: 37,151,389 (GRCm39)	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,661,490 (GRCm39)		probably null	Het
Dip2b	A	T	15: 100,079,217 (GRCm39)	M810L	probably benign	Het
Eml3	T	C	19: 8,908,773 (GRCm39)	S158P	probably damaging	Het
Eps8l2	G	T	7: 140,938,175 (GRCm39)	E470*	probably null	Het
Flt3l	A	G	7: 44,783,428 (GRCm39)	F146S	probably damaging	Het
Glmn	A	T	5: 107,706,368 (GRCm39)	V419E	possibly damaging	Het
Gm11360	T	A	13: 28,140,295 (GRCm39)	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,444,656 (GRCm39)	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,543,100 (GRCm39)	M187K	possibly damaging	Het
Has3	T	C	8: 107,605,054 (GRCm39)	V420A	possibly damaging	Het
Huwe1	C	A	X: 150,671,444 (GRCm39)	T1012K	probably benign	Het
Iqcg	G	A	16: 32,837,345 (GRCm39)		probably benign	Het
Itga4	G	A	2: 79,103,143 (GRCm39)	G111R	probably damaging	Het
Keap1	A	G	9: 21,145,282 (GRCm39)	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,732,472 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,584,098 (GRCm39)	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,806,610 (GRCm39)		probably null	Het
Mbtps1	C	T	8: 120,249,238 (GRCm39)	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,343,171 (GRCm39)	I1688F	probably damaging	Het
Midn	C	T	10: 79,987,553 (GRCm39)	T21I	probably damaging	Het
Naf1	C	T	8: 67,342,114 (GRCm39)	P580S	possibly damaging	Het
Nherf4	G	A	9: 44,160,158 (GRCm39)	R349C	probably benign	Het
Nlrp3	A	T	11: 59,440,487 (GRCm39)	E688V	possibly damaging	Het
Nusap1	A	G	2: 119,470,129 (GRCm39)	H259R	probably damaging	Het
Nxpe4	A	G	9: 48,310,284 (GRCm39)	T516A	probably damaging	Het
Oas1g	T	A	5: 121,017,230 (GRCm39)	T275S	probably damaging	Het
Ogdh	T	G	11: 6,299,374 (GRCm39)	F743V	probably damaging	Het
Or5aq6	T	C	2: 86,922,974 (GRCm39)	T256A	probably benign	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or6c215	C	A	10: 129,638,169 (GRCm39)	C75F	probably damaging	Het
Or6c75	C	A	10: 129,337,339 (GRCm39)	C195*	probably null	Het
Or9i1b	A	G	19: 13,896,717 (GRCm39)	E111G	probably damaging	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472 (GRCm39)		probably benign	Het
Piezo1	T	A	8: 123,217,866 (GRCm39)	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,070,591 (GRCm39)	G20C	probably damaging	Het
Polq	A	G	16: 36,881,663 (GRCm39)	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,503,264 (GRCm39)	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,173,173 (GRCm39)	K800*	probably null	Het
Prkdc	T	A	16: 15,555,769 (GRCm39)	M2181K	probably damaging	Het
Pskh1	C	A	8: 106,639,536 (GRCm39)	A72E	probably benign	Het
Purg	T	C	8: 33,877,321 (GRCm39)	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 184,988,034 (GRCm39)		probably null	Het
Rnps1	T	A	17: 24,644,089 (GRCm39)		probably benign	Het
Scgb2b21	A	T	7: 33,219,233 (GRCm39)	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,502,439 (GRCm39)	I7N	probably benign	Het
Six4	A	G	12: 73,150,899 (GRCm39)	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,064,772 (GRCm39)	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,526,927 (GRCm39)	V734F	probably benign	Het
Stk4	T	A	2: 163,959,904 (GRCm39)	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,461,174 (GRCm39)	C79*	probably null	Het
Tgm3	G	T	2: 129,880,333 (GRCm39)	V380L	possibly damaging	Het
Tjp1	T	C	7: 64,968,237 (GRCm39)	N729S	probably damaging	Het
Tlr12	A	G	4: 128,511,581 (GRCm39)	L223P	probably damaging	Het
Tmem268	T	C	4: 63,484,005 (GRCm39)		probably null	Het
Tmpo	A	T	10: 90,998,818 (GRCm39)	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,440,549 (GRCm39)	S302G	probably benign	Het
Trip11	C	A	12: 101,852,127 (GRCm39)	E361*	probably null	Het
Tspyl3	T	A	2: 153,067,076 (GRCm39)	N54I	possibly damaging	Het
Upp2	A	T	2: 58,668,021 (GRCm39)	Y220F	probably damaging	Het
Usp22	G	T	11: 61,052,290 (GRCm39)		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,809,793 (GRCm39)		probably benign	Het
Vmn1r235	G	T	17: 21,482,562 (GRCm39)	G296W	probably damaging	Het
Vmn1r89	T	C	7: 12,954,113 (GRCm39)	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,565,073 (GRCm39)	E80V	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
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
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'- GGCATTTGATTTGTAACCAACCC -3'
(R):5'- GTCCCCAGTATGTCACATGC -3'

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

Posted On

2015-06-20