Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Tiam1'

156301

Institutional Source

Beutler Lab

Gene Symbol

Tiam1

Ensembl Gene

ENSMUSG00000002489

Gene Name

T cell lymphoma invasion and metastasis 1

Synonyms

D16Ium10e, D16Ium10

MMRRC Submission

039420-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89787111-90143769 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89898221 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 116 (I116N)

Ref Sequence

ENSEMBL: ENSMUSP00000132137 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000163370]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002588
AA Change: I116N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489
AA Change: I116N

Domain	Start	End	E-Value	Type
low complexity region	52	67	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
PH	434	549	1.32e-13	SMART
low complexity region	573	586	N/A	INTRINSIC
low complexity region	683	695	N/A	INTRINSIC
RBD	765	832	1.76e-22	SMART
PDZ	856	928	1.15e-5	SMART
low complexity region	1013	1028	N/A	INTRINSIC
RhoGEF	1044	1233	1.42e-63	SMART
PH	1262	1397	9.58e-2	SMART
low complexity region	1445	1454	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114124
AA Change: I116N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489
AA Change: I116N

Domain	Start	End	E-Value	Type
low complexity region	52	67	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
PH	434	549	1.32e-13	SMART
low complexity region	573	586	N/A	INTRINSIC
low complexity region	683	695	N/A	INTRINSIC
RBD	765	832	1.76e-22	SMART
PDZ	856	928	1.15e-5	SMART
low complexity region	1013	1028	N/A	INTRINSIC
RhoGEF	1044	1233	1.42e-63	SMART
PH	1262	1397	9.58e-2	SMART
low complexity region	1445	1454	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151655

Predicted Effect

probably benign
Transcript: ENSMUST00000163370
AA Change: I116N

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489
AA Change: I116N

Domain	Start	End	E-Value	Type
low complexity region	52	67	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC
low complexity region	367	377	N/A	INTRINSIC
PH	434	549	1.32e-13	SMART
low complexity region	573	586	N/A	INTRINSIC
low complexity region	683	695	N/A	INTRINSIC
RBD	765	832	1.76e-22	SMART
PDZ	856	928	1.15e-5	SMART
low complexity region	1013	1028	N/A	INTRINSIC
RhoGEF	1044	1233	1.42e-63	SMART
PH	1262	1397	9.58e-2	SMART
low complexity region	1445	1454	N/A	INTRINSIC

Meta Mutation Damage Score

0.0720

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted null allele display resistance to chemically-induced tumors, however, tumors that do develop progress to malignancy. Mice homozygous for a gene trap allele display anencephaly, exencephaly and/or neural tube defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,388,696	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,283,912	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,151,655	W14*	probably null	Het
B4galnt4	T	C	7: 141,065,395	V259A	probably damaging	Het
Ccdc141	A	T	2: 77,030,601	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,321,242	D224E	probably damaging	Het
Ccne1	A	G	7: 38,106,322	I43T	possibly damaging	Het
Cd226	T	A	18: 89,247,023	S29T	probably benign	Het
Cebpz	G	T	17: 78,935,324	D300E	probably benign	Het
Cryzl1	A	G	16: 91,692,658	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,740,956	L29P	probably damaging	Het
Dennd3	A	C	15: 73,540,854		probably benign	Het
Dpy19l4	C	T	4: 11,303,371	W183*	probably null	Het
Eml6	T	G	11: 29,833,085	S599R	probably benign	Het
Erc1	A	T	6: 119,743,420	L440*	probably null	Het
Fam71e1	A	G	7: 44,496,691	K2E	possibly damaging	Het
Frem3	A	G	8: 80,690,702	Y2012C	probably damaging	Het
Gm10288	A	T	3: 146,838,993		noncoding transcript	Het
Gm1110	T	A	9: 26,883,761	K476N	probably benign	Het
Gm11937	A	T	11: 99,609,907	S95T	possibly damaging	Het
Hist1h2bl	T	A	13: 21,715,857	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,103,576	H197Q	probably damaging	Het
Ism1	A	T	2: 139,732,074	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,171,003	G443E	probably benign	Het
Kalrn	T	A	16: 33,975,584	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,548,114	V299L	probably benign	Het
Mettl5	A	T	2: 69,881,420		probably null	Het
Nlrp2	G	T	7: 5,327,491	N635K	possibly damaging	Het
Olfr140	G	A	2: 90,051,613	T237I	probably benign	Het
Olfr1466	T	A	19: 13,342,518	Y253*	probably null	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Olfr198	A	G	16: 59,201,680	S249P	probably damaging	Het
Plxna1	A	G	6: 89,320,766		probably benign	Het
Ppp4r1	A	T	17: 65,840,987	E924D	probably benign	Het
Prdm2	C	T	4: 143,131,963	V1586I	probably benign	Het
Pros1	A	G	16: 62,919,558	K457E	probably benign	Het
Rer1	T	A	4: 155,075,624	M156L	probably benign	Het
Rgs16	A	T	1: 153,743,668	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,807,761	M1T	probably null	Het
Setdb2	T	A	14: 59,417,441	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,017,965	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,195,872		probably benign	Het
Slc44a3	C	A	3: 121,531,671	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818	G103D	probably benign	Het
Soga3	A	T	10: 29,147,322	T222S	probably benign	Het
Sspo	T	A	6: 48,448,626	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114	C37Y	possibly damaging	Het
Ttc3	A	G	16: 94,418,637	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,573,376	T213K	probably damaging	Het
Usp38	T	C	8: 80,985,033	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,454	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,784,111	Y645C	probably damaging	Het
Wasf3	T	C	5: 146,470,208		probably benign	Het

Other mutations in Tiam1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00929:Tiam1	APN	16	89794739	missense	probably damaging	1.00
IGL01356:Tiam1	APN	16	89837788	missense	probably damaging	0.99
IGL01583:Tiam1	APN	16	89789280	missense	probably damaging	1.00
IGL01626:Tiam1	APN	16	89812968	missense	probably damaging	1.00
IGL01802:Tiam1	APN	16	89898372	missense	possibly damaging	0.94
IGL01818:Tiam1	APN	16	89867704	missense	probably damaging	1.00
IGL02146:Tiam1	APN	16	89849681	missense	probably benign	0.20
IGL02329:Tiam1	APN	16	89800036	missense	probably benign	0.08
IGL02341:Tiam1	APN	16	89898369	missense	probably damaging	1.00
IGL02622:Tiam1	APN	16	89798700	missense	possibly damaging	0.59
F5770:Tiam1	UTSW	16	89865271	missense	probably damaging	1.00
PIT4515001:Tiam1	UTSW	16	89860242	missense	probably damaging	0.99
R0130:Tiam1	UTSW	16	89897754	missense	probably benign	0.01
R0143:Tiam1	UTSW	16	89898200	missense	probably benign	0.01
R0158:Tiam1	UTSW	16	89793001	critical splice donor site	probably benign
R0413:Tiam1	UTSW	16	89809365	splice site	probably benign
R0449:Tiam1	UTSW	16	89837827	missense	possibly damaging	0.75
R0520:Tiam1	UTSW	16	89817951	splice site	probably benign
R0667:Tiam1	UTSW	16	89897984	missense	probably damaging	1.00
R0787:Tiam1	UTSW	16	89789561	missense	probably damaging	1.00
R1370:Tiam1	UTSW	16	89898221	missense	probably benign	0.09
R1534:Tiam1	UTSW	16	89867508	critical splice donor site	probably null
R1769:Tiam1	UTSW	16	89860279	missense	probably damaging	1.00
R1831:Tiam1	UTSW	16	89860294	missense	probably benign	0.01
R1913:Tiam1	UTSW	16	89798694	missense	probably damaging	1.00
R2022:Tiam1	UTSW	16	89877187	missense	probably benign
R2140:Tiam1	UTSW	16	89849645	splice site	probably benign
R2383:Tiam1	UTSW	16	89798684	missense	probably benign	0.29
R2697:Tiam1	UTSW	16	89793164	missense	probably benign	0.00
R4118:Tiam1	UTSW	16	89877033	splice site	probably null
R4327:Tiam1	UTSW	16	89855891	missense	possibly damaging	0.80
R4693:Tiam1	UTSW	16	89843282	missense	possibly damaging	0.87
R5104:Tiam1	UTSW	16	89818041	missense	probably benign	0.00
R5412:Tiam1	UTSW	16	89884865	missense	possibly damaging	0.52
R5426:Tiam1	UTSW	16	89865392	missense	possibly damaging	0.58
R5600:Tiam1	UTSW	16	89865365	missense	probably damaging	1.00
R5842:Tiam1	UTSW	16	89855999	missense	probably benign
R5986:Tiam1	UTSW	16	89789186	missense	probably benign	0.31
R6077:Tiam1	UTSW	16	89798030	critical splice donor site	probably null
R6419:Tiam1	UTSW	16	89898024	nonsense	probably null
R6525:Tiam1	UTSW	16	89858597	critical splice donor site	probably null
R6950:Tiam1	UTSW	16	89860204	critical splice donor site	probably null
R7127:Tiam1	UTSW	16	89860260	missense	probably damaging	1.00
R7197:Tiam1	UTSW	16	89884938	missense	probably damaging	1.00
R7249:Tiam1	UTSW	16	89843255	missense	probably damaging	1.00
R7490:Tiam1	UTSW	16	89898195	missense	probably benign	0.01
R7825:Tiam1	UTSW	16	89898089	missense	probably benign	0.07
R8047:Tiam1	UTSW	16	89897784	missense	probably benign	0.00
R8069:Tiam1	UTSW	16	89789258	missense	probably benign
R8247:Tiam1	UTSW	16	89898149	missense	probably benign	0.26
R8490:Tiam1	UTSW	16	89885044	missense	probably damaging	0.99
R8678:Tiam1	UTSW	16	89884821	nonsense	probably null
R8690:Tiam1	UTSW	16	89898012	missense	probably damaging	1.00
R8839:Tiam1	UTSW	16	89884939	missense	probably damaging	1.00
R8857:Tiam1	UTSW	16	89865257	missense	probably damaging	0.97
R8935:Tiam1	UTSW	16	89884933	missense	probably damaging	1.00
R8972:Tiam1	UTSW	16	89813006	missense	probably damaging	1.00
R9047:Tiam1	UTSW	16	89804888	intron	probably benign
R9131:Tiam1	UTSW	16	89860267	missense	probably damaging	1.00
R9229:Tiam1	UTSW	16	89837831	missense	possibly damaging	0.94
R9383:Tiam1	UTSW	16	89858673	missense	probably damaging	1.00
R9431:Tiam1	UTSW	16	89798030	critical splice donor site	probably null
R9519:Tiam1	UTSW	16	89811934	missense	probably benign	0.06
R9567:Tiam1	UTSW	16	89794765	missense	not run
V7582:Tiam1	UTSW	16	89865271	missense	probably damaging	1.00
Z1176:Tiam1	UTSW	16	89865275	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGGAACCCAAGATTTCTTCGTTG -3'
(R):5'- CACAGGAACTCTGAAGTGAGCACC -3'

Sequencing Primer
(F):5'- AGTGAGAATTCCAGGCTGTCC -3'
(R):5'- TGAAGTGAGCACCCGGTC -3'

Posted On

2014-02-11