Mutagenetix > Incidental Mutation

Incidental Mutation 'R7391:Tes'

573431

Institutional Source

Beutler Lab

Gene Symbol

Tes

Ensembl Gene

ENSMUSG00000029552

Gene Name

testin LIM domain protein

Synonyms

Tes1, D6Ertd352e, Tes2, testin2, testin

MMRRC Submission

045473-MU

Accession Numbers

Essential gene?

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

Stock #

R7391 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17065148-17105824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 17096166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 51 (H51Q)

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 damaging
Transcript: ENSMUST00000076654
AA Change: H42Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075950
Gene: ENSMUSG00000029552
AA Change: H42Q

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 damaging
Transcript: ENSMUST00000115467
AA Change: H51Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111127
Gene: ENSMUSG00000029552
AA Change: H51Q

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

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

0.6415

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef3	A	T	10: 18,522,007 (GRCm39)	I673K	probably benign	Het
Arhgap32	C	A	9: 32,093,235 (GRCm39)	T196K	probably benign	Het
Azi2	T	A	9: 117,879,960 (GRCm39)		probably null	Het
B3gnt2	A	T	11: 22,786,482 (GRCm39)	C235*	probably null	Het
Capn5	C	T	7: 97,780,426 (GRCm39)	V315M	probably benign	Het
Ccl24	T	A	5: 135,599,676 (GRCm39)	R111S	possibly damaging	Het
Cdk9	A	G	2: 32,602,083 (GRCm39)	V45A	probably damaging	Het
Cep162	G	T	9: 87,130,547 (GRCm39)	S21*	probably null	Het
Chil3	T	A	3: 106,071,496 (GRCm39)	Y56F	probably damaging	Het
Ctr9	T	A	7: 110,642,378 (GRCm39)	L368*	probably null	Het
Ctss	A	G	3: 95,436,852 (GRCm39)	E45G	probably benign	Het
Cyp2c29	A	T	19: 39,296,211 (GRCm39)	Q214L	probably null	Het
Cyp2d34	T	A	15: 82,502,587 (GRCm39)	N183I	probably benign	Het
Dhx29	T	A	13: 113,099,393 (GRCm39)	N1139K	probably benign	Het
Elp1	C	A	4: 56,781,211 (GRCm39)	Q487H	possibly damaging	Het
Elp1	T	G	4: 56,781,212 (GRCm39)	Q487P	probably benign	Het
Ermp1	C	A	19: 29,604,468 (GRCm39)		probably null	Het
Ermp1	T	A	19: 29,604,469 (GRCm39)		probably null	Het
Evi2	A	G	11: 79,406,493 (GRCm39)	S361P	probably benign	Het
Ext2	T	A	2: 93,560,612 (GRCm39)	K518M	probably damaging	Het
Fgl1	A	C	8: 41,663,483 (GRCm39)	M15R	probably benign	Het
Fsip2	T	G	2: 82,820,663 (GRCm39)	D5465E	possibly damaging	Het
Hdlbp	A	T	1: 93,358,783 (GRCm39)	I256N	possibly damaging	Het
Hmmr	G	T	11: 40,598,613 (GRCm39)		probably null	Het
Hnrnpu	T	C	1: 178,164,643 (GRCm39)	Q165R	unknown	Het
Homer3	G	A	8: 70,742,134 (GRCm39)	A132T	probably benign	Het
Ift70a1	T	C	2: 75,810,359 (GRCm39)	K575E	probably benign	Het
Kcnb1	T	C	2: 166,947,370 (GRCm39)	R493G	probably damaging	Het
Kcnn3	A	T	3: 89,516,778 (GRCm39)	T396S	probably benign	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krtap4-1	A	G	11: 99,518,810 (GRCm39)	S67P	unknown	Het
Lama4	G	T	10: 38,963,383 (GRCm39)		probably null	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Mical2	A	T	7: 111,919,816 (GRCm39)	E442V	probably damaging	Het
Muc16	C	T	9: 18,550,832 (GRCm39)	V5154I	probably benign	Het
Nav3	A	T	10: 109,539,317 (GRCm39)	M2028K	probably benign	Het
Ncr1	T	A	7: 4,347,470 (GRCm39)	W249R	possibly damaging	Het
Neurod6	T	C	6: 55,656,616 (GRCm39)	D7G	probably damaging	Het
Nwd1	A	G	8: 73,389,046 (GRCm39)	E158G	probably damaging	Het
Or10ak7	A	T	4: 118,791,198 (GRCm39)	N282K	possibly damaging	Het
Or2h15	A	T	17: 38,441,941 (GRCm39)	F47L	probably benign	Het
Or2t26	A	G	11: 49,039,806 (GRCm39)	T241A	probably damaging	Het
Or2y11	T	C	11: 49,443,371 (GRCm39)	S266P	probably damaging	Het
Or51a39	T	C	7: 102,363,189 (GRCm39)	N144D	probably benign	Het
Padi2	A	G	4: 140,665,266 (GRCm39)	D457G	probably benign	Het
Parn	C	A	16: 13,485,870 (GRCm39)		probably null	Het
Pcdh1	C	T	18: 38,335,838 (GRCm39)	E266K	possibly damaging	Het
Pigr	A	G	1: 130,777,303 (GRCm39)	D703G	probably damaging	Het
Ppm1f	T	A	16: 16,732,098 (GRCm39)	S183T	probably benign	Het
Ppp2r5b	T	A	19: 6,278,544 (GRCm39)	Q455L	probably benign	Het
Pramel20	T	A	4: 143,298,876 (GRCm39)	L273H	probably damaging	Het
Ptpn13	C	T	5: 103,688,847 (GRCm39)	S880L	probably damaging	Het
R3hdm4	T	C	10: 79,746,943 (GRCm39)	K240R	probably benign	Het
Rin1	T	C	19: 5,100,888 (GRCm39)	M1T	probably null	Het
Rundc3b	T	A	5: 8,609,455 (GRCm39)	M170L	probably benign	Het
Ryr3	A	T	2: 112,611,322 (GRCm39)		probably null	Het
Scn11a	T	C	9: 119,624,783 (GRCm39)	D513G	probably damaging	Het
Slc27a2	C	A	2: 126,395,082 (GRCm39)	P3Q	unknown	Het
Slc4a8	A	G	15: 100,682,743 (GRCm39)	I187M	probably damaging	Het
Slc6a11	A	T	6: 114,215,422 (GRCm39)	I441F	probably benign	Het
Stx2	C	T	5: 129,065,867 (GRCm39)	R263Q	probably damaging	Het
Svep1	A	T	4: 58,145,185 (GRCm39)	W427R	probably damaging	Het
Thnsl2	T	C	6: 71,108,914 (GRCm39)	D299G	probably damaging	Het
Tmem30b	T	C	12: 73,592,702 (GRCm39)	S138G	probably benign	Het
Tmprss11c	T	A	5: 86,385,650 (GRCm39)	H274L	probably damaging	Het
Trim10	G	A	17: 37,180,773 (GRCm39)	M1I	probably null	Het
Unc13b	A	G	4: 43,216,459 (GRCm39)	I253V	probably benign	Het
Unc80	A	G	1: 66,734,687 (GRCm39)	S3305G	probably benign	Het
Ush2a	TCACC	TC	1: 188,694,205 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,508,099 (GRCm39)	D267G	probably damaging	Het
Vmn1r46	C	T	6: 89,953,607 (GRCm39)	S152L	probably benign	Het
Wdr90	T	C	17: 26,065,502 (GRCm39)	N1621S	probably benign	Het
Zfhx3	G	A	8: 109,674,475 (GRCm39)	A1842T	probably damaging	Het
Zfp583	A	G	7: 6,319,498 (GRCm39)	S505P	probably damaging	Het
Zfp608	T	C	18: 55,030,619 (GRCm39)	Y1107C	possibly damaging	Het
Zfp616	A	G	11: 73,976,155 (GRCm39)	H808R	probably benign	Het
Zfp677	T	C	17: 21,618,653 (GRCm39)	F570S	possibly damaging	Het
Zfp85	A	T	13: 67,897,410 (GRCm39)	Y221N	probably damaging	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
R3983:Tes	UTSW	6	17,099,700 (GRCm39)	splice site	probably null
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
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'- TATAGTCACACTGGCTGGGC -3'
(R):5'- AACTGTGTTGATGGAGACGTTC -3'

Sequencing Primer
(F):5'- GGAAAGAAACAACTTGGTCTTTGTG -3'
(R):5'- GAGACGTTCTTCTTGGCAGCC -3'

Posted On

2019-09-13