Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Tes'

350676

Institutional Source

Beutler Lab

Gene Symbol

Tes

Ensembl Gene

ENSMUSG00000029552

Gene Name

testin LIM domain protein

Synonyms

Tes1, D6Ertd352e, Tes2, testin2, testin

MMRRC Submission

040944-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17065148-17105824 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 17099700 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076654] [ENSMUST00000115467] [ENSMUST00000154266]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000076654

SMART Domains

Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552

Domain	Start	End	E-Value	Type
Pfam:PET	82	187	9.6e-46	PFAM
LIM	224	281	9.54e-12	SMART
LIM	289	341	5.35e-15	SMART
LIM	349	404	1.69e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115467

SMART Domains

Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552

Domain	Start	End	E-Value	Type
Pfam:PET	96	194	2.1e-44	PFAM
LIM	233	290	9.54e-12	SMART
LIM	298	350	5.35e-15	SMART
LIM	358	413	1.69e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139701

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140709

Predicted Effect

probably benign
Transcript: ENSMUST00000154266

SMART Domains

Protein: ENSMUSP00000118791
Gene: ENSMUSG00000029552

Domain	Start	End	E-Value	Type
Pfam:PET	6	79	4e-33	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cancer-associated chromosomal changes often involve regions containing fragile sites. This gene maps to a commom fragile site on chromosome 7q31.2 designated FRA7G. This gene is similar to mouse Testin, a testosterone-responsive gene encoding a Sertoli cell secretory protein containing three LIM domains. LIM domains are double zinc-finger motifs that mediate protein-protein interactions between transcription factors, cytoskeletal proteins and signaling proteins. This protein is a negative regulator of cell growth and may act as a tumor suppressor. This scaffold protein may also play a role in cell adhesion, cell spreading and in the reorganization of the actin cytoskeleton. Multiple protein isoforms are encoded by transcript variants of this gene.[provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous and heterozygous null mice display small forestomachs with thickened epithelium and increased tumor incidence and malignancy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Eno3	T	A	11: 70,552,237 (GRCm39)	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or1e22	A	G	11: 73,376,961 (GRCm39)	S230P	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Syn2	C	G	6: 115,214,259 (GRCm39)	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Twsg1	T	C	17: 66,236,758 (GRCm39)	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,116,678 (GRCm39)	C56F	probably benign	Het

Other mutations in Tes

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01408:Tes	APN	6	17,099,878 (GRCm39)	missense	probably damaging	1.00
IGL02070:Tes	APN	6	17,099,779 (GRCm39)	missense	probably damaging	1.00
R0501:Tes	UTSW	6	17,097,557 (GRCm39)	missense	probably benign
R1591:Tes	UTSW	6	17,097,441 (GRCm39)	missense	probably damaging	0.98
R1777:Tes	UTSW	6	17,104,754 (GRCm39)	missense	probably benign	0.02
R2968:Tes	UTSW	6	17,096,233 (GRCm39)	missense	probably benign	0.00
R4532:Tes	UTSW	6	17,097,407 (GRCm39)	missense	possibly damaging	0.95
R4893:Tes	UTSW	6	17,104,595 (GRCm39)	missense	probably damaging	1.00
R4949:Tes	UTSW	6	17,100,359 (GRCm39)	missense	probably benign
R5026:Tes	UTSW	6	17,096,339 (GRCm39)	missense	probably benign	0.41
R6220:Tes	UTSW	6	17,086,195 (GRCm39)	nonsense	probably null
R6810:Tes	UTSW	6	17,104,651 (GRCm39)	missense	probably benign	0.12
R6903:Tes	UTSW	6	17,099,862 (GRCm39)	missense	probably damaging	0.99
R6987:Tes	UTSW	6	17,086,154 (GRCm39)	missense	probably benign	0.09
R7210:Tes	UTSW	6	17,104,761 (GRCm39)	missense	probably damaging	1.00
R7391:Tes	UTSW	6	17,096,166 (GRCm39)	missense	probably damaging	1.00
R7549:Tes	UTSW	6	17,099,740 (GRCm39)	frame shift	probably null
R7818:Tes	UTSW	6	17,099,743 (GRCm39)	missense	probably damaging	0.99
R7978:Tes	UTSW	6	17,096,322 (GRCm39)	missense	probably benign	0.00
R7992:Tes	UTSW	6	17,096,242 (GRCm39)	missense	possibly damaging	0.80
R8052:Tes	UTSW	6	17,097,291 (GRCm39)	missense	probably benign	0.08
R8129:Tes	UTSW	6	17,065,242 (GRCm39)	start gained	probably benign
R8552:Tes	UTSW	6	17,097,327 (GRCm39)	missense	probably damaging	1.00
R8703:Tes	UTSW	6	17,099,788 (GRCm39)	missense	probably damaging	1.00
R9269:Tes	UTSW	6	17,100,341 (GRCm39)	missense	probably benign	0.25
R9556:Tes	UTSW	6	17,096,233 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGATTCTCCAGACACTCACTC -3'
(R):5'- TGTCTGCCACAGTACAGCTTC -3'

Sequencing Primer
(F):5'- CATTTTTGAGAGAACCGACCTG -3'
(R):5'- AGTACAGCTTCCCATTCTTCCAGAAG -3'

Posted On

2015-10-08