Mutagenetix > Incidental Mutation

Incidental Mutation 'R9047:Tiam1'

716075

Institutional Source

Beutler Lab

Gene Symbol

Tiam1

Ensembl Gene

ENSMUSG00000002489

Gene Name

T cell lymphoma invasion and metastasis 1

Synonyms

D16Ium10e, D16Ium10

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9047 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89787111-90143769 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 89804888 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002588] [ENSMUST00000114124] [ENSMUST00000163370] [ENSMUST00000164263]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002588

SMART Domains

Protein: ENSMUSP00000002588
Gene: ENSMUSG00000002489

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

SMART Domains

Protein: ENSMUSP00000109759
Gene: ENSMUSG00000002489

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: ENSMUST00000134021

Predicted Effect

probably benign
Transcript: ENSMUST00000163370

SMART Domains

Protein: ENSMUSP00000132137
Gene: ENSMUSG00000002489

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: ENSMUST00000164263

SMART Domains

Protein: ENSMUSP00000126020
Gene: ENSMUSG00000002489

Domain	Start	End	E-Value	Type
low complexity region	44	59	N/A	INTRINSIC
RhoGEF	75	264	1.42e-63	SMART
PH	293	428	9.58e-2	SMART
low complexity region	476	485	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (76/76)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,939,093	S156T	probably damaging	Het
4930522L14Rik	A	G	5: 109,737,554	L146P		Het
Adra1a	T	A	14: 66,638,185	M203K	probably damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Akt3	G	T	1: 177,059,389	T298K	probably damaging	Het
Aldh4a1	G	T	4: 139,623,200		probably benign	Het
Aplf	T	C	6: 87,663,797	T77A	possibly damaging	Het
Arid4b	T	A	13: 14,181,230	W618R	probably damaging	Het
Asxl3	C	A	18: 22,452,408	P130Q	probably damaging	Het
Asxl3	A	G	18: 22,452,414	K132R	probably damaging	Het
Atp11a	T	C	8: 12,828,483	M353T	probably damaging	Het
Atp11b	A	G	3: 35,806,889	D375G	probably damaging	Het
BC052040	A	G	2: 115,777,023	T286A	probably benign	Het
Cage1	C	T	13: 38,017,362	A656T	possibly damaging	Het
Casz1	C	T	4: 148,939,040	P801S	probably damaging	Het
Ccdc130	C	T	8: 84,263,898	R35Q	probably damaging	Het
Ccdc144b	A	G	3: 36,032,884	I187T	probably benign	Het
Cdc14b	A	T	13: 64,220,944		probably benign	Het
Cox6b2	A	G	7: 4,752,087	F63L	probably benign	Het
Cramp1l	A	C	17: 24,979,629	V773G	possibly damaging	Het
Cul7	A	G	17: 46,654,522	E542G	probably benign	Het
Cyp2c55	T	C	19: 39,031,346	Y243H	possibly damaging	Het
Dnah9	C	A	11: 66,072,099	D1797Y	possibly damaging	Het
Dpep2	C	A	8: 105,989,312	A298S		Het
Dvl3	G	A	16: 20,524,076		probably null	Het
Enpp3	T	C	10: 24,798,274	D376G	possibly damaging	Het
Ffar4	T	C	19: 38,113,784	I289T	possibly damaging	Het
Gm3417	A	G	17: 14,967,680	Y111H	probably damaging	Het
Gm5565	T	C	5: 146,158,039	Y299C	probably damaging	Het
Gm8765	C	T	13: 50,702,092	R589*	probably null	Het
Gpat3	A	T	5: 100,846,922	M39L	probably benign	Het
Gpr153	T	C	4: 152,280,207	L240P	probably damaging	Het
Gpr182	T	C	10: 127,750,648	I145V	probably benign	Het
H2-Q4	A	T	17: 35,379,993	T80S	possibly damaging	Het
Hnf1a	T	A	5: 114,950,823	T545S	probably benign	Het
Kif5b	A	C	18: 6,208,261	F946V	probably benign	Het
Krtap16-1	C	T	11: 99,986,341	C79Y	probably damaging	Het
Lama2	A	G	10: 27,006,701	V2622A	possibly damaging	Het
Lrrc37a	T	A	11: 103,500,549	Q1350L	probably damaging	Het
Map2k2	G	A	10: 81,119,664	V294I	probably benign	Het
Mtus1	G	A	8: 41,083,723	H319Y	possibly damaging	Het
Ncdn	T	C	4: 126,750,828	D67G	possibly damaging	Het
Ngef	G	A	1: 87,503,288	P269L	probably damaging	Het
Nlrp9b	A	G	7: 20,023,476	I213V	possibly damaging	Het
Nyap2	G	A	1: 81,298,088	R649H	possibly damaging	Het
Olfr1165-ps	T	G	2: 88,101,072	D305A	unknown	Het
Olfr1200	C	A	2: 88,767,955	R120L	probably damaging	Het
Olfr304	A	G	7: 86,386,040	S207P	probably benign	Het
Pi4kb	T	A	3: 94,993,117	L354Q	probably damaging	Het
Plekhh2	T	C	17: 84,590,762	S944P	probably damaging	Het
Podn	C	T	4: 108,021,546	V375M	probably damaging	Het
Pramef8	C	A	4: 143,419,103	Q381K	possibly damaging	Het
Psmb2	T	A	4: 126,706,102	H110Q	probably benign	Het
Rasip1	A	G	7: 45,632,642	E523G	possibly damaging	Het
Ripor1	T	G	8: 105,616,151	C219G	probably damaging	Het
Rps6ka2	G	C	17: 7,300,279	V714L	probably damaging	Het
Sass6	G	T	3: 116,613,998	L254F	probably damaging	Het
Scarf2	G	A	16: 17,806,406	G525E	probably damaging	Het
Sh3d21	T	A	4: 126,152,338		probably benign	Het
Sh3tc1	C	A	5: 35,706,483	A787S	probably benign	Het
Skint5	T	A	4: 113,655,722	N871I	unknown	Het
Slc48a1	T	G	15: 97,789,952	D62E	probably damaging	Het
Slc6a21	G	A	7: 45,286,974	M157I		Het
Slurp2	T	C	15: 74,743,112	D60G	probably benign	Het
Sparcl1	G	T	5: 104,093,113	N148K	possibly damaging	Het
Spsb2	T	A	6: 124,810,013	N236K	probably benign	Het
Sptb	G	T	12: 76,632,534		probably benign	Het
Ssc4d	A	T	5: 135,961,176	C41S	probably damaging	Het
Tecta	A	T	9: 42,375,079	D760E	probably benign	Het
Tesmin	G	T	19: 3,389,431		probably benign	Het
Tldc1	T	C	8: 119,762,311	N411S	probably benign	Het
Tnrc6a	T	C	7: 123,179,723	L1219S	probably damaging	Het
Tram1	T	G	1: 13,569,606	I306L	probably benign	Het
Trank1	A	C	9: 111,362,432	D503A	probably damaging	Het
Ttc21b	T	C	2: 66,201,252	H1044R		Het
Ubac2	T	C	14: 121,908,214	F95L	probably benign	Het
Vmn2r91	A	T	17: 18,106,034	M194L	probably benign	Het
Zdhhc1	G	T	8: 105,478,901	H90Q	probably damaging	Het
Zfp169	C	T	13: 48,498,816	V42I	probably damaging	Het
Zfp81	A	G	17: 33,334,413	C476R	probably damaging	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
R1355:Tiam1	UTSW	16	89898221	missense	probably benign	0.09
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
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	probably damaging	1.00
R9656:Tiam1	UTSW	16	89867571	missense	probably damaging	1.00
R9714:Tiam1	UTSW	16	89897759	missense	probably benign	0.00
R9750:Tiam1	UTSW	16	89898506	missense	probably damaging	1.00
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'- TCAGCTGGTCAAACACAGC -3'
(R):5'- AAGTACCCGCTTCTGCTCAG -3'

Sequencing Primer
(F):5'- GCACCAAACTCTTCGTGGATC -3'
(R):5'- TTTGCGCTGACCGATGC -3'

Posted On

2022-07-15