Mutagenetix > Incidental Mutation

Incidental Mutation 'R8292:Tiam2'

638769

Institutional Source

Beutler Lab

Gene Symbol

Tiam2

Ensembl Gene

ENSMUSG00000023800

Gene Name

T cell lymphoma invasion and metastasis 2

Synonyms

STEF, 3000002F19Rik

MMRRC Submission

067782-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8292 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3376675-3569672 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3557142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1194 (V1194A)

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 benign
Transcript: ENSMUST00000072156
AA Change: V1194A

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

SMART Domains

Protein: ENSMUSP00000072020
Gene: ENSMUSG00000023800
AA Change: V1194A

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: V1194A

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

SMART Domains

Protein: ENSMUSP00000125842
Gene: ENSMUSG00000023800
AA Change: V1194A

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,338,555 (GRCm39)		probably null	Het
Akirin2	T	C	4: 34,566,007 (GRCm39)		probably null	Het
Akr1c14	A	G	13: 4,130,995 (GRCm39)	D229G	possibly damaging	Het
Arfgef1	T	C	1: 10,227,194 (GRCm39)	I1382V	probably benign	Het
Bcas3	C	A	11: 85,348,729 (GRCm39)	A207D	probably damaging	Het
Bcl2l10	T	C	9: 75,255,160 (GRCm39)		probably benign	Het
Cdc42	T	C	4: 137,063,384 (GRCm39)	T3A	probably benign	Het
Celsr1	C	A	15: 85,791,819 (GRCm39)	W2594L	possibly damaging	Het
Chrna6	A	T	8: 27,896,754 (GRCm39)	H374Q	probably benign	Het
Cibar1	T	G	4: 12,153,963 (GRCm39)	T330P	possibly damaging	Het
Clcnka	G	A	4: 141,125,272 (GRCm39)	R30*	probably null	Het
Clptm1l	A	T	13: 73,765,854 (GRCm39)	H464L	probably damaging	Het
Col6a4	A	T	9: 105,954,076 (GRCm39)	M421K	probably benign	Het
Crybg2	T	C	4: 133,802,842 (GRCm39)	S873P	probably damaging	Het
Dixdc1	A	G	9: 50,621,989 (GRCm39)	V114A	probably benign	Het
Etv6	T	C	6: 134,225,509 (GRCm39)	C247R	probably benign	Het
Farp2	T	C	1: 93,456,350 (GRCm39)	L11S	probably damaging	Het
Gbp2	G	A	3: 142,329,584 (GRCm39)	V44M	probably damaging	Het
Get4	A	G	5: 139,248,686 (GRCm39)	D99G	probably null	Het
Glcci1	G	A	6: 8,558,549 (GRCm39)	R212H	probably damaging	Het
Gm14295	T	A	2: 176,501,351 (GRCm39)	F280L	probably damaging	Het
Gm5407	T	A	16: 49,117,550 (GRCm39)	N70Y	noncoding transcript	Het
Hace1	C	G	10: 45,587,557 (GRCm39)	Y885*	probably null	Het
Hectd4	G	A	5: 121,455,288 (GRCm39)	R644Q	possibly damaging	Het
Impg2	A	T	16: 56,080,989 (GRCm39)	E931V	probably damaging	Het
Kif5c	A	T	2: 49,625,497 (GRCm39)	Y589F	probably benign	Het
Krr1	T	A	10: 111,813,021 (GRCm39)	V132E	possibly damaging	Het
Luzp1	T	G	4: 136,269,764 (GRCm39)	D662E	probably benign	Het
Mc4r	A	T	18: 66,993,082 (GRCm39)	Y10*	probably null	Het
Mfng	T	C	15: 78,657,370 (GRCm39)	I35V	probably benign	Het
Mprip	T	A	11: 59,650,340 (GRCm39)	I1348K	probably benign	Het
Mrgprb3	G	T	7: 48,293,255 (GRCm39)	Q99K	probably benign	Het
Mrgprb4	A	T	7: 47,848,554 (GRCm39)	S125T	probably damaging	Het
Mrgprg	A	T	7: 143,318,656 (GRCm39)	M152K	probably benign	Het
Muc5ac	A	C	7: 141,363,000 (GRCm39)	I2104L	unknown	Het
Myom2	A	G	8: 15,182,888 (GRCm39)	I1442V	probably benign	Het
Nell1	T	C	7: 49,907,995 (GRCm39)	C385R	probably damaging	Het
Nid2	T	G	14: 19,818,346 (GRCm39)	V280G	probably damaging	Het
Npr2	T	A	4: 43,643,086 (GRCm39)	M490K	possibly damaging	Het
Prr12	A	G	7: 44,684,112 (GRCm39)	F1643L	probably damaging	Het
Psg16	G	A	7: 16,827,701 (GRCm39)	G128D	probably damaging	Het
Racgap1	A	T	15: 99,520,127 (GRCm39)	L595*	probably null	Het
Rbbp8	T	C	18: 11,838,769 (GRCm39)	V150A	probably benign	Het
Rbbp9	T	C	2: 144,390,017 (GRCm39)	T49A	probably benign	Het
Rbm20	C	A	19: 53,839,930 (GRCm39)	T973K	possibly damaging	Het
Robo1	A	T	16: 72,769,420 (GRCm39)	I582F	possibly damaging	Het
Rps6ka5	A	T	12: 100,644,791 (GRCm39)	V53D	possibly damaging	Het
Slc35f6	G	T	5: 30,813,375 (GRCm39)	V156L	probably benign	Het
Smpd3	T	C	8: 106,991,422 (GRCm39)	H377R	probably benign	Het
Son	G	A	16: 91,453,545 (GRCm39)	S764N	possibly damaging	Het
Srgn	A	T	10: 62,343,447 (GRCm39)	V16D	possibly damaging	Het
Tex14	G	A	11: 87,388,664 (GRCm39)	R297Q	probably damaging	Het
Tlr6	A	C	5: 65,111,134 (GRCm39)	L591R	probably damaging	Het
Tmem143	A	G	7: 45,558,964 (GRCm39)	K302R	probably damaging	Het
Ttc28	A	G	5: 111,371,123 (GRCm39)	Y555C	probably damaging	Het
Usp32	T	A	11: 84,968,227 (GRCm39)	K145N	probably damaging	Het
Zbtb40	T	C	4: 136,726,878 (GRCm39)	Y486C	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
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
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'- CTGTGACTATGCTCTGTAAGGTTC -3'
(R):5'- TGAACACAGTCACTCCAGGG -3'

Sequencing Primer
(F):5'- CGTCTAGGGTGCACTTCCTG -3'
(R):5'- GGGCTAAACCACGAAGCTGC -3'

Posted On

2020-07-28