Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4504001:Tshz2'

555992

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 #

PIT4504001 (G1)

Quality Score

215.009

Status

Not validated

Chromosome

Chromosomal Location

169633013-170071816 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 169886051 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 856 (F856L)

Ref Sequence

ENSEMBL: ENSMUSP00000104787 (fasta)

Gene Model

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

AlphaFold

Q68FE9

Predicted Effect

probably damaging
Transcript: ENSMUST00000109157
AA Change: F856L

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

SMART Domains

Protein: ENSMUSP00000104785
Gene: ENSMUSG00000047907
AA Change: F856L

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: F856L

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

SMART Domains

Protein: ENSMUSP00000104787
Gene: ENSMUSG00000047907
AA Change: F856L

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: ENSMUST00000123300
AA Change: F387L

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

SMART Domains

Protein: ENSMUSP00000118550
Gene: ENSMUSG00000047907
AA Change: F387L

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 damaging
Transcript: ENSMUST00000140699
AA Change: F73L

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

SMART Domains

Protein: ENSMUSP00000120013
Gene: ENSMUSG00000047907
AA Change: F73L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000185239
AA Change: F387L

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

SMART Domains

Protein: ENSMUSP00000140884
Gene: ENSMUSG00000047907
AA Change: F387L

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: 92.8%
3x: 90.6%
10x: 84.7%
20x: 71.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	T	A	2: 103,717,192	C970*	probably null	Het
Adgrv1	G	A	13: 81,559,352	P1312S	probably damaging	Het
Als2cr12	T	A	1: 58,659,099	I348F	probably benign	Het
Arid5a	T	C	1: 36,317,625	I116T	probably damaging	Het
Bank1	C	A	3: 136,100,419	D485Y	probably damaging	Het
Cbln3	C	T	14: 55,883,499	V122M	probably damaging	Het
Cox10	C	T	11: 63,964,216	C413Y	possibly damaging	Het
Ctsll3	T	A	13: 60,801,009	D44V	probably benign	Het
Cuzd1	A	T	7: 131,309,800	N483K	possibly damaging	Het
Dcaf4	G	A	12: 83,534,011		probably null	Het
Ddx60	A	G	8: 61,958,113	T470A	probably benign	Het
Dennd1b	T	C	1: 139,040,004	V44A	probably benign	Het
Dusp16	C	A	6: 134,739,883	V154F	possibly damaging	Het
Ect2	G	A	3: 27,126,948	R586*	probably null	Het
Ermard	T	A	17: 15,058,822	C460*	probably null	Het
Fat2	C	T	11: 55,256,110	G4020D	possibly damaging	Het
Galnt16	G	T	12: 80,592,417	E402*	probably null	Het
Gm5414	T	G	15: 101,625,823	D282A	probably damaging	Het
Gm6741	C	T	17: 91,236,916	Q36*	probably null	Het
Gm7356	A	T	17: 14,001,458	L103Q	probably damaging	Het
Hcn1	A	G	13: 117,975,875	T792A	possibly damaging	Het
Hemgn	T	C	4: 46,395,863	N458D	probably benign	Het
Hesx1	C	A	14: 27,001,881	D140E	probably benign	Het
Hfe2	A	T	3: 96,528,497	D357V	probably damaging	Het
Hmgcr	A	G	13: 96,663,097	I163T	possibly damaging	Het
Igfbpl1	T	C	4: 45,813,469	T249A	possibly damaging	Het
Il33	A	T	19: 29,952,739	H78L	probably benign	Het
Inpp4b	A	T	8: 82,041,935	D691V	probably damaging	Het
Itpr2	T	A	6: 146,229,871	N1945I	probably damaging	Het
Lnpep	A	G	17: 17,579,027	V122A	probably benign	Het
Lrp2	T	C	2: 69,475,403	D2938G	probably damaging	Het
Lrrc8c	A	T	5: 105,608,537	Y726F	probably benign	Het
Magi3	G	T	3: 104,015,526	Q1292K	probably benign	Het
Mllt3	A	C	4: 87,774,087	F546L	probably damaging	Het
Mrpl14	A	G	17: 45,698,221	K82R	probably benign	Het
Noxred1	A	G	12: 87,224,879	V172A	possibly damaging	Het
Obscn	A	T	11: 59,133,122	I574N	probably damaging	Het
Olfr133	A	G	17: 38,149,169	T194A	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,308	T134S	probably benign	Het
Osbpl11	T	A	16: 33,234,494	V649D	probably benign	Het
Pdlim2	G	T	14: 70,166,130	P278T	probably benign	Het
Pm20d2	A	C	4: 33,183,152	L223V	probably damaging	Het
Pmpcb	G	T	5: 21,743,390	R223L	probably damaging	Het
Pole2	A	T	12: 69,209,985	Y255*	probably null	Het
Rims1	T	A	1: 22,397,460	I317L		Het
Scnn1g	C	A	7: 121,742,331	H239N	probably benign	Het
Spag17	A	G	3: 100,103,110		probably null	Het
Tenm3	A	T	8: 48,293,657	F1038I	probably damaging	Het
Ubtf	A	G	11: 102,306,682	S715P	unknown	Het
Usp13	A	C	3: 32,905,430	S557R	probably damaging	Het
Usp19	T	A	9: 108,492,970	S43T	probably benign	Het
Vmn2r7	A	T	3: 64,715,976	Y308N	probably benign	Het
Zfp455	A	G	13: 67,198,621	D32G	probably damaging	Het
Zfp512	T	A	5: 31,476,881		probably null	Het
Zfr	A	G	15: 12,166,158	E838G	possibly 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
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
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'- GTGACATTGCTGATATGGTCAAG -3'
(R):5'- AAGATGGGGTGCCCTTTGTC -3'

Sequencing Primer
(F):5'- ACATTGCTGATATGGTCAAGGTCCTC -3'
(R):5'- GTCCATGTTTTTCAGGAACTTTGTC -3'

Posted On

2019-06-07