Mutagenetix > Incidental Mutations

Incidental Mutation 'R3904:Tshz2'

309093

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

040812-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

169633013-170071816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 169884387 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 301 (Y301C)

Ref Sequence

ENSEMBL: ENSMUSP00000104787 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109157
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: Y301C

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 damaging
Transcript: ENSMUST00000109159
AA Change: Y301C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: Y301C

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

SMART Domains

Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907

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

SMART Domains

Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907

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

0.3597

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 138,066,639	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,429,439	S96P	probably damaging	Het
Acot4	A	G	12: 84,043,327		probably null	Het
Alms1	A	G	6: 85,621,678	D1631G	probably benign	Het
Amd1	C	T	10: 40,290,457	R210H	probably benign	Het
Amt	C	T	9: 108,297,221	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,642,519	F1175S	probably damaging	Het
Ano4	A	G	10: 89,025,005	F337S	probably damaging	Het
Bub1	A	C	2: 127,821,942	I207S	probably benign	Het
Cfap53	T	A	18: 74,307,374	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Col6a1	C	T	10: 76,711,341	R730H	unknown	Het
Esp3	A	T	17: 40,635,929	T48S	possibly damaging	Het
Fam35a	A	G	14: 34,259,709	W491R	probably damaging	Het
Fmo1	G	T	1: 162,833,768	N315K	possibly damaging	Het
Gm595	T	C	X: 48,841,544	N649S	possibly damaging	Het
Impg1	A	G	9: 80,345,585	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,812,412	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,152,549		noncoding transcript	Het
Mrm3	A	G	11: 76,244,286	M108V	probably benign	Het
Mtf2	T	A	5: 108,081,000	F61I	probably damaging	Het
Nat10	A	T	2: 103,726,247		probably benign	Het
Olfr1356	T	G	10: 78,847,298	I206L	probably benign	Het
Olfr1380	T	C	11: 49,564,758	I279T	possibly damaging	Het
Pcgf5	T	C	19: 36,440,095	I140T	probably damaging	Het
Pfpl	T	C	19: 12,430,437	L684P	probably benign	Het
Psmd10	T	C	X: 140,949,303	*152W	probably null	Het
Ptpn23	A	C	9: 110,389,245	M600R	probably benign	Het
Pxmp4	C	T	2: 154,588,049	R140H	probably damaging	Het
Rnf112	T	C	11: 61,450,385	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830	K144*	probably null	Het
Slc46a3	C	T	5: 147,886,454	E193K	probably benign	Het
Snap23	A	C	2: 120,599,334	D209A	possibly damaging	Het
Tg	C	T	15: 66,766,162	Q656*	probably null	Het
Ttn	T	A	2: 76,840,294		probably benign	Het
Unc80	C	T	1: 66,639,296	Q2011*	probably null	Het
Vwa3a	A	G	7: 120,758,876	T57A	probably benign	Het
Zfp518a	C	T	19: 40,914,920	Q1098*	probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CGAGACAGGCCACTATCAAG -3'
(R):5'- AAGATCTGGGACTTGCAGGC -3'

Sequencing Primer
(F):5'- GAGACAGGCCACTATCAAGATGAC -3'
(R):5'- TCGAACTGCCAGGTGTAGCTG -3'

Posted On

2015-04-17