Mutagenetix > Incidental Mutations

Incidental Mutation 'R4113:Tshz2'

314494

Institutional Source

Beutler Lab

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 #

R4113 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

169633013-170071816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 169885530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 213 (P213Q)

Ref Sequence

ENSEMBL: ENSMUSP00000118550 (fasta)

Gene Model

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

AlphaFold

Q68FE9

Predicted Effect

probably benign
Transcript: ENSMUST00000109157
AA Change: P682Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: P682Q

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: P682Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: P682Q

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: P213Q

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: P213Q

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

probably benign
Transcript: ENSMUST00000185239
AA Change: P213Q

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: P213Q

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

1x: 99.2%
3x: 98.6%
10x: 97.6%
20x: 96.1%

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
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
BC024139	A	G	15: 76,121,627	M458T	probably benign	Het
Casp2	G	A	6: 42,267,894	A76T	probably damaging	Het
Catsper3	A	G	13: 55,786,370	K35E	probably damaging	Het
Ccdc88c	A	G	12: 100,945,073	L34P	probably damaging	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dip2c	G	T	13: 9,637,101	G1254C	probably damaging	Het
Dnah12	T	C	14: 26,693,567	L41P	probably damaging	Het
Dnah17	T	C	11: 118,112,594	K514R	possibly damaging	Het
Dnajb12	T	A	10: 59,894,314	S270R	possibly damaging	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Eya4	G	T	10: 23,155,951	S235Y	probably damaging	Het
Fam208a	C	T	14: 27,459,961	R483*	probably null	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gdf3	A	G	6: 122,607,057	I117T	probably damaging	Het
Gm5611	T	A	9: 17,030,693		noncoding transcript	Het
Gtf3c4	G	A	2: 28,827,555	T771I	probably damaging	Het
Hrh3	C	A	2: 180,102,850	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,561,418	Y234F	probably damaging	Het
Irak1bp1	T	C	9: 82,846,675	S220P	probably benign	Het
Lama1	G	A	17: 67,764,703	V862I	probably benign	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Olfr1271	A	T	2: 90,266,340	L30H	probably damaging	Het
Olfr304	G	A	7: 86,386,525	T45M	possibly damaging	Het
Pcdh8	T	C	14: 79,767,513	D927G	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprm	T	C	17: 66,725,813	D1015G	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Riox2	C	T	16: 59,491,894	L465F	probably benign	Het
Sec31b	G	T	19: 44,524,529	T507N	possibly damaging	Het
Stab1	C	T	14: 31,168,479	R5Q	probably damaging	Het
Stmn3	T	C	2: 181,307,296	K135E	possibly damaging	Het
Synj2	G	A	17: 6,007,965	G243S	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tssk4	A	G	14: 55,650,373	T9A	probably benign	Het
Ube4a	T	A	9: 44,948,949	I272F	probably damaging	Het
Unc79	T	C	12: 103,059,370	C339R	probably damaging	Het
Vmn2r87	T	C	10: 130,479,822	D125G	probably benign	Het
Yap1	A	T	9: 7,938,431	*358K	probably null	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	Het

Other mutations in Tshz2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01901:Tshz2	APN	2	169885536	missense	possibly damaging	0.87
IGL01973:Tshz2	APN	2	169884683	missense	probably damaging	1.00
IGL02209:Tshz2	APN	2	169884764	missense	probably damaging	1.00
BB009:Tshz2	UTSW	2	169886331	missense	possibly damaging	0.95
BB019:Tshz2	UTSW	2	169886331	missense	possibly damaging	0.95
PIT4504001:Tshz2	UTSW	2	169886051	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
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
R7398:Tshz2	UTSW	2	169884174	missense	probably damaging	1.00
R7722:Tshz2	UTSW	2	169885272	missense	probably benign
R7932:Tshz2	UTSW	2	169886331	missense	possibly damaging	0.95
R8166:Tshz2	UTSW	2	169883655	missense	probably benign	0.07
R8721:Tshz2	UTSW	2	169885358	missense	probably benign	0.00
R8855:Tshz2	UTSW	2	169886505	missense	probably damaging	1.00
R8962:Tshz2	UTSW	2	169884604	missense	probably damaging	1.00
R9163:Tshz2	UTSW	2	169884642	missense	probably damaging	1.00
R9376:Tshz2	UTSW	2	169884093	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- GGCAACATCTTTCAGTCAGCC -3'
(R):5'- CTCAAACAGGTAGTGTCTGGCC -3'

Sequencing Primer
(F):5'- CTGAGGGCGAGTCTTTCTCC -3'
(R):5'- TAGTGTCTGGCCACGCTG -3'

Posted On

2015-05-14