Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02934:Tshz1'

364218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tshz1

Ensembl Gene

ENSMUSG00000046982

Gene Name

teashirt zinc finger family member 1

Synonyms

Mtsh1, teashirt1, Sdccag33, D18Bwg1409e, Tsh1, NY-CO-33, 5730407I04Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02934

Quality Score

Status

Chromosome

Chromosomal Location

84011627-84086404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84013090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 1064 (S1064R)

Ref Sequence

ENSEMBL: ENSMUSP00000089388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060303]

AlphaFold

Q5DTH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000060303
AA Change: S1064R

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

SMART Domains

Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: S1064R

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	153	195	N/A	INTRINSIC
ZnF_C2H2	246	270	1.86e0	SMART
ZnF_C2H2	307	331	3.83e-2	SMART
ZnF_C2H2	416	440	5.34e0	SMART
low complexity region	497	515	N/A	INTRINSIC
HOX	890	964	4.15e-4	SMART
ZnF_C2H2	976	998	4.34e-1	SMART
ZnF_C2H2	1044	1067	4.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175783

SMART Domains

Protein: ENSMUSP00000135640
Gene: ENSMUSG00000046982

Domain	Start	End	E-Value	Type
ZnF_C2H2	43	67	1.7e-4	SMART
ZnF_C2H2	152	176	2.3e-2	SMART
low complexity region	233	251	N/A	INTRINSIC
HOX	626	700	2.1e-6	SMART
ZnF_C2H2	712	734	1.9e-3	SMART
ZnF_C2H2	780	803	1.8e-5	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	T	3: 122,162,359	R716*	probably null	Het
Abca8a	A	T	11: 110,040,588	N1246K	probably damaging	Het
Acadl	A	G	1: 66,836,975	Y396H	probably benign	Het
Apol7c	A	T	15: 77,526,118	S209R	possibly damaging	Het
Atp1a1	A	T	3: 101,576,992	C990*	probably null	Het
Cachd1	C	T	4: 100,968,098	S583L	probably damaging	Het
Cbfa2t3	T	C	8: 122,647,758	T48A	probably benign	Het
Ccdc138	G	T	10: 58,573,580		probably benign	Het
Cenpe	A	G	3: 135,264,351	E2231G	probably damaging	Het
Cog3	T	C	14: 75,741,689	I206V	probably damaging	Het
Cr2	A	G	1: 195,154,325		probably benign	Het
Ctdspl2	T	C	2: 121,979,009	V147A	probably damaging	Het
Cyp4f13	A	G	17: 32,929,871	V300A	probably damaging	Het
Dkk3	A	T	7: 112,150,747	M72K	probably damaging	Het
Dock3	A	T	9: 107,023,745	F340L	probably benign	Het
Fut1	A	G	7: 45,618,703	H27R	possibly damaging	Het
Igkv4-80	A	G	6: 69,016,856	V17A	probably benign	Het
Igkv9-123	G	A	6: 67,954,396	P62L	possibly damaging	Het
Kmt2e	T	C	5: 23,497,884	S1021P	probably damaging	Het
Krt13	A	C	11: 100,119,084	L320R	probably damaging	Het
Ldhal6b	T	C	17: 5,417,544	T372A	probably benign	Het
Manba	T	C	3: 135,544,749	V379A	probably benign	Het
Map1b	C	T	13: 99,435,131	V361I	probably benign	Het
Map4k1	A	G	7: 28,994,106	S399G	probably benign	Het
Mff	G	A	1: 82,747,094	R229H	probably damaging	Het
Naga	T	C	15: 82,330,200	N370S	possibly damaging	Het
Ncor2	A	T	5: 125,025,557	M2045K	probably benign	Het
Nipal1	T	C	5: 72,647,907	L7P	probably damaging	Het
Olfr9	T	A	10: 128,990,089	M59K	probably damaging	Het
Pcmt1	A	T	10: 7,640,727	M187K	probably benign	Het
Perp	A	T	10: 18,855,772	T160S	probably damaging	Het
Rapgef6	G	A	11: 54,625,864	D169N	probably damaging	Het
Sel1l	G	A	12: 91,809,936	Q711*	probably null	Het
Sept5	T	C	16: 18,629,831	Y7C	probably damaging	Het
Spdya	A	T	17: 71,556,400	N48I	probably benign	Het
Stard6	T	A	18: 70,496,104		probably benign	Het
Sytl2	T	C	7: 90,375,992	V396A	probably benign	Het
Tcaf3	T	G	6: 42,593,898	M307L	probably benign	Het
Tdrd6	T	C	17: 43,627,887	N757D	probably benign	Het
Tgm1	T	A	14: 55,709,989	D305V	probably damaging	Het
Themis2	T	A	4: 132,789,551	M213L	probably damaging	Het
Tmem184c	A	G	8: 77,597,820	V347A	probably damaging	Het
Tmem214	A	G	5: 30,871,544	E159G	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Ubr2	C	T	17: 46,957,340	E983K	possibly damaging	Het
Vmn1r23	A	T	6: 57,925,929	I288N	probably benign	Het
Vmn2r97	T	C	17: 18,929,685	V445A	probably benign	Het
Whrn	G	A	4: 63,416,105	T813M	probably damaging	Het
Xirp2	C	T	2: 67,515,676	H2754Y	probably benign	Het

Other mutations in Tshz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Tshz1	APN	18	84013509	missense	possibly damaging	0.94
ANU18:Tshz1	UTSW	18	84014661	missense	probably damaging	1.00
PIT4810001:Tshz1	UTSW	18	84013250	missense	possibly damaging	0.85
R0052:Tshz1	UTSW	18	84014945	missense	possibly damaging	0.76
R0052:Tshz1	UTSW	18	84014945	missense	possibly damaging	0.76
R0364:Tshz1	UTSW	18	84016124	missense	probably benign	0.31
R0391:Tshz1	UTSW	18	84016049	missense	possibly damaging	0.93
R0515:Tshz1	UTSW	18	84015965	missense	probably benign
R0942:Tshz1	UTSW	18	84013053	missense	probably damaging	0.99
R0943:Tshz1	UTSW	18	84015231	missense	probably benign	0.04
R1472:Tshz1	UTSW	18	84013805	missense	possibly damaging	0.93
R1895:Tshz1	UTSW	18	84013433	missense	probably damaging	1.00
R2022:Tshz1	UTSW	18	84013862	missense	probably damaging	0.98
R2860:Tshz1	UTSW	18	84014980	missense	probably damaging	1.00
R2861:Tshz1	UTSW	18	84014980	missense	probably damaging	1.00
R4027:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4028:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4030:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4031:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4119:Tshz1	UTSW	18	84014189	missense	probably benign	0.00
R4233:Tshz1	UTSW	18	84016195	missense	probably benign	0.00
R4573:Tshz1	UTSW	18	84015082	missense	probably damaging	1.00
R4604:Tshz1	UTSW	18	84013374	missense	probably damaging	1.00
R4960:Tshz1	UTSW	18	84014862	missense	probably benign	0.08
R5085:Tshz1	UTSW	18	84013928	missense	probably benign	0.01
R5124:Tshz1	UTSW	18	84015467	missense	probably damaging	1.00
R5150:Tshz1	UTSW	18	84013215	nonsense	probably null
R5357:Tshz1	UTSW	18	84015080	missense	probably damaging	1.00
R5530:Tshz1	UTSW	18	84013268	missense	probably damaging	1.00
R5718:Tshz1	UTSW	18	84014524	missense	probably damaging	1.00
R5750:Tshz1	UTSW	18	84013961	missense	possibly damaging	0.93
R5778:Tshz1	UTSW	18	84015680	missense	probably damaging	1.00
R6052:Tshz1	UTSW	18	84014069	missense	probably damaging	1.00
R6279:Tshz1	UTSW	18	84015311	missense	probably damaging	1.00
R6393:Tshz1	UTSW	18	84013220	missense	probably damaging	1.00
R6407:Tshz1	UTSW	18	84015966	missense	possibly damaging	0.55
R6425:Tshz1	UTSW	18	84015563	missense	probably damaging	0.99
R6998:Tshz1	UTSW	18	84015841	missense	probably benign	0.00
R7165:Tshz1	UTSW	18	84015927	missense	probably damaging	1.00
R7233:Tshz1	UTSW	18	84014819	missense	possibly damaging	0.63
R7330:Tshz1	UTSW	18	84014831	missense	probably damaging	0.96
R7491:Tshz1	UTSW	18	84015641	missense	probably damaging	1.00
R7579:Tshz1	UTSW	18	84014665	nonsense	probably null
R7592:Tshz1	UTSW	18	84014048	missense	probably damaging	1.00
R7659:Tshz1	UTSW	18	84016075	missense	probably damaging	0.97
R7702:Tshz1	UTSW	18	84014336	missense	probably damaging	1.00
R7844:Tshz1	UTSW	18	84014171	missense	probably benign	0.00
R7908:Tshz1	UTSW	18	84014607	nonsense	probably null
R7941:Tshz1	UTSW	18	84015392	missense	possibly damaging	0.91
R7947:Tshz1	UTSW	18	84015657	missense	probably damaging	1.00
R8435:Tshz1	UTSW	18	84014024	missense	probably damaging	1.00
R8750:Tshz1	UTSW	18	84015037	missense	probably damaging	1.00
R8774:Tshz1	UTSW	18	84014976	missense	possibly damaging	0.96
R8774-TAIL:Tshz1	UTSW	18	84014976	missense	possibly damaging	0.96
R9029:Tshz1	UTSW	18	84013514	missense	probably damaging	0.98
R9031:Tshz1	UTSW	18	84014862	missense	probably benign	0.08
R9573:Tshz1	UTSW	18	84014279	missense	probably benign	0.45
R9584:Tshz1	UTSW	18	84014964	missense	probably damaging	1.00
R9596:Tshz1	UTSW	18	84013779	missense	possibly damaging	0.92
R9701:Tshz1	UTSW	18	84014454	missense	possibly damaging	0.96

Posted On

2015-12-18