Mutagenetix > Incidental Mutations

Incidental Mutation 'R0364:Tshz3'

65540

Institutional Source

Beutler Lab

Gene Symbol

Tshz3

Ensembl Gene

ENSMUSG00000021217

Gene Name

teashirt zinc finger family member 3

Synonyms

Tsh3, teashirt3, A630038G13Rik, Zfp537

MMRRC Submission

038570-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36698118-36773553 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36770533 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 649 (E649G)

Ref Sequence

ENSEMBL: ENSMUSP00000021641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021641]

Predicted Effect

probably benign
Transcript: ENSMUST00000021641
AA Change: E649G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: E649G

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
low complexity region	123	138	N/A	INTRINSIC
low complexity region	142	164	N/A	INTRINSIC
ZnF_C2H2	214	238	1.86e0	SMART
ZnF_C2H2	275	299	3.83e-2	SMART
low complexity region	313	334	N/A	INTRINSIC
ZnF_C2H2	386	410	5.62e0	SMART
low complexity region	483	497	N/A	INTRINSIC
coiled coil region	609	630	N/A	INTRINSIC
low complexity region	796	832	N/A	INTRINSIC
low complexity region	855	872	N/A	INTRINSIC
HOX	890	964	2.55e-4	SMART
ZnF_C2H2	976	998	8.09e0	SMART
ZnF_C2H2	1041	1064	2.4e-3	SMART

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Arhgef12	A	T	9: 43,018,401	N199K	probably damaging	Het
Arpc2	A	G	1: 74,236,887	N26S	probably null	Het
BC017158	C	T	7: 128,290,614	R1H	probably damaging	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc178	C	T	18: 21,915,062	R757H	probably damaging	Het
Cfap52	A	C	11: 67,953,610	I93S	possibly damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dnah12	A	G	14: 26,724,473	T730A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Endou	A	T	15: 97,718,973		probably benign	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fbxw17	T	C	13: 50,432,441	S40P	possibly damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Fyb	A	G	15: 6,580,791	K282E	probably damaging	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Grm5	A	G	7: 88,074,386	Y628C	probably damaging	Het
Hexa	A	G	9: 59,563,935	N491D	probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hpx	G	T	7: 105,596,264	Q101K	probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Inpp4b	A	T	8: 81,997,314	T492S	probably benign	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Itga9	A	G	9: 118,841,142	T177A	probably benign	Het
Itpkc	A	C	7: 27,227,749	S247A	possibly damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Kiz	T	G	2: 146,942,156	S536R	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Kprp	A	T	3: 92,824,335	Y469*	probably null	Het
Ksr1	A	T	11: 79,029,025		probably benign	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Ltf	A	T	9: 111,025,167	N350I	probably benign	Het
Msl3l2	G	A	10: 56,115,851	R224Q	possibly damaging	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Necap1	A	G	6: 122,880,769		probably benign	Het
Nf1	A	T	11: 79,441,957	K810*	probably null	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr850	G	A	9: 19,477,972	Q90*	probably null	Het
Olfr889	A	G	9: 38,116,029	T78A	probably benign	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Pcdhb17	C	A	18: 37,485,835	A226E	possibly damaging	Het
Phldb1	A	T	9: 44,699,335		probably benign	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Prr14	G	A	7: 127,474,579	R205H	probably benign	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Slc7a5	A	G	8: 121,885,015	F425L	probably benign	Het
Slk	T	A	19: 47,620,189	L527*	probably null	Het
Stpg4	T	A	17: 87,389,714		probably null	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tas2r123	T	A	6: 132,847,681	S180R	probably benign	Het
Tmc2	C	T	2: 130,202,103	R86W	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz1	A	T	18: 84,016,124	I53N	probably benign	Het
Ttll7	C	A	3: 146,945,181	R719S	possibly damaging	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vps39	T	G	2: 120,345,638	K76T	probably damaging	Het
Wdr60	A	G	12: 116,257,477		probably benign	Het
Whamm	A	G	7: 81,594,051	T674A	probably benign	Het
Zbtb16	A	G	9: 48,743,576		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	probably benign	Het

Other mutations in Tshz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Tshz3	APN	7	36769960	missense	probably damaging	0.97
IGL01922:Tshz3	APN	7	36769605	missense	probably damaging	1.00
IGL02047:Tshz3	APN	7	36770468	missense	probably damaging	1.00
IGL02166:Tshz3	APN	7	36768921	missense	probably benign	0.00
IGL02405:Tshz3	APN	7	36769650	missense	possibly damaging	0.93
IGL02658:Tshz3	APN	7	36769158	missense	probably damaging	0.99
IGL02968:Tshz3	APN	7	36769824	missense	probably damaging	1.00
IGL03073:Tshz3	APN	7	36770745	missense	probably damaging	1.00
IGL03233:Tshz3	APN	7	36770079	missense	probably damaging	0.97
IGL03296:Tshz3	APN	7	36771336	missense	probably damaging	1.00
R0049:Tshz3	UTSW	7	36770109	missense	probably damaging	1.00
R0049:Tshz3	UTSW	7	36770109	missense	probably damaging	1.00
R0090:Tshz3	UTSW	7	36768892	missense	probably benign
R0329:Tshz3	UTSW	7	36770033	missense	probably benign
R0330:Tshz3	UTSW	7	36770033	missense	probably benign
R0360:Tshz3	UTSW	7	36770533	missense	probably benign
R0380:Tshz3	UTSW	7	36771300	missense	probably damaging	1.00
R0547:Tshz3	UTSW	7	36771417	missense	probably damaging	1.00
R1061:Tshz3	UTSW	7	36768706	missense	probably damaging	1.00
R1618:Tshz3	UTSW	7	36771796	missense	probably damaging	1.00
R1704:Tshz3	UTSW	7	36771360	missense	possibly damaging	0.92
R1881:Tshz3	UTSW	7	36771654	missense	possibly damaging	0.87
R1926:Tshz3	UTSW	7	36769375	missense	probably damaging	1.00
R1994:Tshz3	UTSW	7	36769822	missense	probably damaging	0.99
R2404:Tshz3	UTSW	7	36770380	missense	probably damaging	0.99
R2447:Tshz3	UTSW	7	36768753	missense	probably benign	0.00
R2930:Tshz3	UTSW	7	36771592	missense	possibly damaging	0.74
R3879:Tshz3	UTSW	7	36771537	nonsense	probably null
R4033:Tshz3	UTSW	7	36770584	missense	possibly damaging	0.71
R4212:Tshz3	UTSW	7	36770119	missense	probably damaging	1.00
R4394:Tshz3	UTSW	7	36769605	missense	probably damaging	1.00
R4779:Tshz3	UTSW	7	36768972	missense	probably damaging	1.00
R4977:Tshz3	UTSW	7	36771190	missense	probably benign	0.31
R5139:Tshz3	UTSW	7	36771025	missense	probably benign	0.23
R5448:Tshz3	UTSW	7	36771229	missense	possibly damaging	0.90
R5516:Tshz3	UTSW	7	36770350	missense	probably benign	0.03
R5760:Tshz3	UTSW	7	36771569	missense	probably damaging	1.00
R6360:Tshz3	UTSW	7	36769441	missense	probably damaging	1.00
R6481:Tshz3	UTSW	7	36752339	intron	probably null
R6535:Tshz3	UTSW	7	36768789	missense	probably damaging	1.00
R7105:Tshz3	UTSW	7	36769756	missense	probably damaging	1.00
R7133:Tshz3	UTSW	7	36770569	missense	probably benign	0.12
R7225:Tshz3	UTSW	7	36769657	missense	probably damaging	1.00
R7238:Tshz3	UTSW	7	36770097	missense	probably damaging	1.00
X0067:Tshz3	UTSW	7	36768796	missense	probably benign	0.19
X0067:Tshz3	UTSW	7	36769321	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08