Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01901:Tshz2'

179531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tshz2

Ensembl Gene

ENSMUSG00000047907

Gene Name

teashirt zinc finger family member 2

Synonyms

Mtsh2, Sdccag33l, Zfp218, teashirt2, 2900073F20Rik, Tsh2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01901

Quality Score

Status

Chromosome

Chromosomal Location

169633013-170071816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 169885536 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 215 (L215Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109157] [ENSMUST00000109159] [ENSMUST00000123300] [ENSMUST00000140699] [ENSMUST00000185239]

Predicted Effect

probably benign
Transcript: ENSMUST00000109157
AA Change: L684Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: L684Q

Domain	Start	End	E-Value	Type
coiled coil region	11	42	N/A	INTRINSIC
ZnF_C2H2	216	240	1.62e0	SMART
ZnF_C2H2	276	300	7.15e-2	SMART
ZnF_C2H2	381	405	4.94e0	SMART
low complexity region	460	478	N/A	INTRINSIC
low complexity region	598	613	N/A	INTRINSIC
low complexity region	647	667	N/A	INTRINSIC
low complexity region	710	722	N/A	INTRINSIC
HOX	836	910	3.43e-4	SMART
ZnF_C2H2	922	944	5.34e-1	SMART
ZnF_C2H2	990	1013	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109159
AA Change: L684Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: L684Q

Domain	Start	End	E-Value	Type
coiled coil region	11	42	N/A	INTRINSIC
ZnF_C2H2	216	240	1.62e0	SMART
ZnF_C2H2	276	300	7.15e-2	SMART
ZnF_C2H2	381	405	4.94e0	SMART
low complexity region	460	478	N/A	INTRINSIC
low complexity region	598	613	N/A	INTRINSIC
low complexity region	647	667	N/A	INTRINSIC
low complexity region	710	722	N/A	INTRINSIC
HOX	836	910	3.43e-4	SMART
ZnF_C2H2	922	944	5.34e-1	SMART
ZnF_C2H2	990	1013	3.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123300
AA Change: L215Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: L215Q

Domain	Start	End	E-Value	Type
low complexity region	41	56	N/A	INTRINSIC
low complexity region	90	110	N/A	INTRINSIC
low complexity region	153	165	N/A	INTRINSIC
HOX	279	353	1.7e-6	SMART
ZnF_C2H2	365	387	2.3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000140699

SMART Domains

Protein: ENSMUSP00000120013
Gene: ENSMUSG00000047907

Domain	Start	End	E-Value	Type
HOX	43	117	1.7e-6	SMART
ZnF_C2H2	129	151	2.3e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180945

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181446

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185239
AA Change: L215Q

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: L215Q

Domain	Start	End	E-Value	Type
low complexity region	129	144	N/A	INTRINSIC
low complexity region	178	198	N/A	INTRINSIC
low complexity region	241	253	N/A	INTRINSIC
HOX	367	441	1.7e-6	SMART
ZnF_C2H2	453	475	2.3e-3	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 is a member of the teashirt C2H2-type zinc-finger protein family of transcription factors. This gene encodes a protein with five C2H2-type zinc fingers, a homeobox DNA-binding domain and a coiled-coil domain. This nuclear protein is predicted to act as a transcriptional repressor. This gene is thought to play a role in the development and progression of breast and other types of cancer. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a transposon induced allele die in utero; cultured blastocysts fail to hatch. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	G	1: 26,682,584	F1172L	probably benign	Het
Adam2	A	G	14: 66,035,229		probably benign	Het
Aldh1a7	T	G	19: 20,717,739	Y154S	probably damaging	Het
BC117090	C	A	16: 36,334,263	A11S	probably damaging	Het
Casc3	A	G	11: 98,823,121	D393G	probably damaging	Het
Cd180	A	G	13: 102,706,428	I661V	probably benign	Het
Cdh1	T	C	8: 106,657,760	S287P	probably damaging	Het
Clnk	T	C	5: 38,794,978	N6S	probably damaging	Het
Cyp17a1	C	T	19: 46,671,092	V100M	possibly damaging	Het
Ddhd2	A	G	8: 25,748,594	V53A	probably damaging	Het
Elovl7	T	A	13: 108,274,393		probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm14180	A	G	11: 99,734,227	S22P	unknown	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Golga5	G	A	12: 102,479,802		probably null	Het
Gpr162	A	T	6: 124,861,407	F93L	possibly damaging	Het
Kcnh8	G	A	17: 52,894,120		probably benign	Het
Lamp3	A	T	16: 19,673,419	F358L	probably damaging	Het
Mdn1	T	G	4: 32,669,591	D409E	probably damaging	Het
Ms4a10	T	C	19: 10,963,010	D211G	probably benign	Het
Ms4a3	T	C	19: 11,639,266	E4G	possibly damaging	Het
Myo15	A	G	11: 60,527,434		probably benign	Het
Olfr1257	A	G	2: 89,881,482	I219V	probably damaging	Het
Olfr1448	T	C	19: 12,919,583	H242R	probably damaging	Het
Olfr612	A	T	7: 103,538,970	L88Q	probably damaging	Het
Olfr638	A	G	7: 104,004,067	H264R	probably damaging	Het
Olfr698	A	G	7: 106,752,545	V281A	possibly damaging	Het
Olfr815	A	G	10: 129,901,853	F286L	probably benign	Het
Penk	T	C	4: 4,134,465	I61V	probably benign	Het
Pkhd1	T	A	1: 20,220,083	K2860N	probably benign	Het
Prtg	C	T	9: 72,855,066	P492S	probably damaging	Het
Tdrd7	T	C	4: 45,989,225		probably benign	Het
Terf2ip	A	G	8: 112,012,068	N196S	probably benign	Het
Tgtp1	T	C	11: 48,987,555	N108D	possibly damaging	Het
Thumpd3	A	G	6: 113,059,971	H277R	probably benign	Het
Ube3c	T	A	5: 29,668,007	V1015E	probably damaging	Het
Utrn	T	A	10: 12,640,928	K2307N	probably damaging	Het
Vmn1r75	A	G	7: 11,880,812	Y157C	probably damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in Tshz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01973:Tshz2	APN	2	169884683	missense	probably damaging	1.00
IGL02209:Tshz2	APN	2	169884764	missense	probably damaging	1.00
R0084:Tshz2	UTSW	2	169884366	missense	probably damaging	1.00
R1757:Tshz2	UTSW	2	169883923	missense	probably benign
R1908:Tshz2	UTSW	2	169885545	missense	possibly damaging	0.95
R2082:Tshz2	UTSW	2	169886215	missense	probably damaging	1.00
R2256:Tshz2	UTSW	2	169886477	missense	probably damaging	1.00
R2259:Tshz2	UTSW	2	169886406	missense	probably benign	0.43
R2260:Tshz2	UTSW	2	169886406	missense	probably benign	0.43
R2444:Tshz2	UTSW	2	169884806	missense	probably benign
R3085:Tshz2	UTSW	2	169883951	missense	probably benign	0.10
R3904:Tshz2	UTSW	2	169884387	missense	probably damaging	1.00
R4021:Tshz2	UTSW	2	169885862	missense	probably damaging	1.00
R4061:Tshz2	UTSW	2	169962325	intron	probably benign
R4064:Tshz2	UTSW	2	169962325	intron	probably benign
R4113:Tshz2	UTSW	2	169885530	missense	probably benign	0.14
R4321:Tshz2	UTSW	2	169885545	missense	possibly damaging	0.95
R4355:Tshz2	UTSW	2	169884938	missense	possibly damaging	0.79
R4458:Tshz2	UTSW	2	169885088	missense	probably benign	0.29
R4779:Tshz2	UTSW	2	169962681	intron	probably benign
R4841:Tshz2	UTSW	2	169886247	missense	probably damaging	0.98
R4945:Tshz2	UTSW	2	169883874	missense	probably damaging	1.00
R5073:Tshz2	UTSW	2	169962573	intron	probably benign
R5110:Tshz2	UTSW	2	169884197	missense	possibly damaging	0.48
R5404:Tshz2	UTSW	2	169884320	missense	probably benign	0.02
R5425:Tshz2	UTSW	2	169884024	missense	probably damaging	1.00
R5473:Tshz2	UTSW	2	169883798	missense	probably benign
R5587:Tshz2	UTSW	2	169884342	missense	probably damaging	1.00
R5832:Tshz2	UTSW	2	169884045	missense	possibly damaging	0.56
R6351:Tshz2	UTSW	2	169884968	missense	probably benign	0.16
R6375:Tshz2	UTSW	2	169886019	missense	probably damaging	1.00
R6478:Tshz2	UTSW	2	169884664	missense	probably damaging	1.00
R6675:Tshz2	UTSW	2	169886045	missense	probably damaging	1.00
R6742:Tshz2	UTSW	2	169883757	missense	probably damaging	1.00

Posted On

2014-05-07