Mutagenetix > Incidental Mutation

Incidental Mutation 'R4355:Tshz2'

327472

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

MMRRC Submission

041108-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169633013-170071816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 169884938 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 16 (E16K)

Ref Sequence

ENSEMBL: ENSMUSP00000140884 (fasta)

Gene Model

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

AlphaFold

Q68FE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109157
AA Change: E485K

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: E485K

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

possibly damaging
Transcript: ENSMUST00000109159
AA Change: E485K

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: E485K

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

possibly damaging
Transcript: ENSMUST00000123300
AA Change: E16K

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: E16K

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: E16K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: E16K

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

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (57/57)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	G	8: 43,570,185	Q89H	probably benign	Het
Adgrb1	T	C	15: 74,543,662	F697S	probably damaging	Het
Adgrl2	A	T	3: 148,839,152	V769E	probably damaging	Het
Aldh7a1	A	T	18: 56,548,494	F173L	probably null	Het
Arntl	A	G	7: 113,303,406	I421V	possibly damaging	Het
Bcl3	G	T	7: 19,811,580	C208*	probably null	Het
Casz1	T	C	4: 148,952,335	S1685P	unknown	Het
Cep250	A	G	2: 155,991,525	E1789G	probably damaging	Het
Cep76	A	T	18: 67,626,640	D334E	probably benign	Het
Clca3b	A	T	3: 144,825,458		probably null	Het
Col9a3	A	G	2: 180,606,478	S208G	probably benign	Het
Ddx47	T	C	6: 135,021,505	V388A	probably benign	Het
Dync1h1	C	T	12: 110,632,899	A1896V	possibly damaging	Het
Eif2ak2	T	A	17: 78,858,534	R411S	probably benign	Het
F7	A	G	8: 13,034,774	T267A	probably benign	Het
Fras1	C	A	5: 96,700,242	D1770E	probably benign	Het
G2e3	T	A	12: 51,365,337	Y387N	probably benign	Het
Hspg2	C	T	4: 137,529,418	L1491F	probably damaging	Het
Ighv3-4	T	C	12: 114,253,640	I110M	probably benign	Het
Itgb5	T	A	16: 33,844,997	C28S	probably damaging	Het
Kbtbd11	C	A	8: 15,028,578	N392K	probably damaging	Het
Kcnmb4	A	G	10: 116,473,284	S80P	possibly damaging	Het
Kif21a	C	T	15: 90,970,833	C721Y	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Klrc3	T	C	6: 129,639,162	M189V	probably benign	Het
Macf1	T	A	4: 123,475,091	E394V	possibly damaging	Het
Mrgprb4	C	T	7: 48,198,701	G160R	possibly damaging	Het
Myb	A	G	10: 21,152,617	S116P	probably damaging	Het
Nf2	G	A	11: 4,780,613	Q513*	probably null	Het
Nmnat3	C	T	9: 98,410,152	T150M	possibly damaging	Het
Olfr361	C	A	2: 37,084,930	V273F	probably benign	Het
Olfr743	T	C	14: 50,533,759	C116R	possibly damaging	Het
Patj	T	G	4: 98,650,454	C210W	possibly damaging	Het
Pde3b	A	G	7: 114,416,287	H246R	probably benign	Het
Pnp2	A	G	14: 50,959,625	H56R	probably benign	Het
Prkg1	A	G	19: 30,569,229		probably benign	Het
Rhbdf1	C	T	11: 32,216,236	S8N	probably damaging	Het
Rimbp3	A	G	16: 17,209,692	K327E	possibly damaging	Het
Rnf219	A	G	14: 104,479,257	V560A	probably benign	Het
Rsph6a	T	A	7: 19,067,078		probably null	Het
Ryr2	T	C	13: 11,649,812	N3535S	probably benign	Het
Ssfa2	A	G	2: 79,641,998	N132S	probably benign	Het
Ston1	T	G	17: 88,637,008	V614G	probably damaging	Het
Svep1	T	A	4: 58,138,695	T466S	possibly damaging	Het
Tas2r109	A	T	6: 132,980,181	I262N	probably benign	Het
Tmtc1	T	C	6: 148,355,098		probably benign	Het
Ufsp2	T	A	8: 45,985,465	S193R	possibly damaging	Het
Ugt2b5	C	A	5: 87,139,763	E182*	probably null	Het
Usp43	A	G	11: 67,891,464	V376A	probably benign	Het
Utp15	A	T	13: 98,259,247	F76I	possibly damaging	Het
Wdr62	A	C	7: 30,242,248	L1141R	probably damaging	Het
Zfp418	T	A	7: 7,172,162	M18K	probably benign	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
R4113:Tshz2	UTSW	2	169885530	missense	probably benign	0.14
R4321:Tshz2	UTSW	2	169885545	missense	possibly damaging	0.95
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
R9501:Tshz2	UTSW	2	169883839	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TAGCTCTGCCTCCAAGAAAGG -3'
(R):5'- ATACTTGGGTATGCGCTCCAG -3'

Sequencing Primer
(F):5'- CCCCCTAGCTGTGGAGAAAATG -3'
(R):5'- TATGCGCTCCAGCTGGG -3'

Posted On

2015-07-07