Mutagenetix > Incidental Mutation

Incidental Mutation 'R6360:Tshz3'

513067

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

044510-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36698118-36773553 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36769441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 285 (E285G)

Ref Sequence

ENSEMBL: ENSMUSP00000021641 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021641
AA Change: E285G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: E285G

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

0.1557

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (59/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	G	A	8: 77,259,202	Q657*	probably null	Het
Car15	T	C	16: 17,838,066	T560A	probably benign	Het
Cass4	C	T	2: 172,432,611	H769Y	probably damaging	Het
Cdh6	A	G	15: 13,041,460	I506T	possibly damaging	Het
Clstn3	G	T	6: 124,438,429	R659S	possibly damaging	Het
Cntnap5b	C	T	1: 100,431,736	R695*	probably null	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,597,455		probably null	Het
Dab2ip	A	G	2: 35,710,266	H355R	probably benign	Het
Dennd2a	C	T	6: 39,493,142	A539T	probably benign	Het
Dnajc18	T	C	18: 35,686,709	E173G	probably damaging	Het
Dock7	T	C	4: 98,969,662	I1472V	probably benign	Het
Esco1	A	T	18: 10,574,931	F714I	probably damaging	Het
Fam107a	T	G	14: 8,299,619	H73P	probably damaging	Het
Fam46b	T	C	4: 133,486,756	F313L	probably damaging	Het
Flg	A	G	3: 93,290,601		probably benign	Het
Fyn	C	A	10: 39,526,883	T217K	possibly damaging	Het
Gbp9	T	C	5: 105,083,730	D330G	probably benign	Het
Gin1	T	C	1: 97,792,539	S509P	possibly damaging	Het
Gm15922	A	T	7: 3,736,504	L455Q	probably damaging	Het
Gm17067	A	C	7: 42,708,482	S199A	probably benign	Het
Grk4	A	T	5: 34,674,537	K50M	probably damaging	Het
Inpp4b	A	G	8: 81,902,852	H272R	probably benign	Het
Ipo7	T	A	7: 110,027,129	L48Q	probably damaging	Het
Kbtbd2	A	G	6: 56,779,206	I515T	probably damaging	Het
Kcnu1	T	A	8: 25,861,180	S190R	possibly damaging	Het
Kpnb1	T	C	11: 97,173,270	N336S	probably benign	Het
Lbr	G	T	1: 181,832,155	D158E	probably benign	Het
Mphosph10	T	C	7: 64,389,955	Q89R	probably benign	Het
Nectin3	T	A	16: 46,411,109	T21S	probably benign	Het
Numb	C	A	12: 83,797,262	R383L	probably damaging	Het
Olfr1370	A	T	13: 21,072,583	N239K	probably damaging	Het
Olfr461	G	T	6: 40,544,713	Q89K	possibly damaging	Het
Park2	T	C	17: 12,004,052	F363S	probably damaging	Het
Pcdhb11	A	T	18: 37,422,159	I181F	probably benign	Het
Pcgf2	T	A	11: 97,692,409		probably null	Het
Pdzd8	T	C	19: 59,300,983	T662A	probably benign	Het
Pex13	A	C	11: 23,655,690	V180G	probably benign	Het
Pkp4	T	A	2: 59,214,747	V22D	probably benign	Het
Ppp1r32	T	C	19: 10,479,481	N167D	probably damaging	Het
Prpf4b	A	C	13: 34,901,433	D954A	probably damaging	Het
Rfx8	T	C	1: 39,680,965	I317V	probably benign	Het
Rnaseh2b	T	C	14: 62,361,419	S198P	probably damaging	Het
Rock1	A	T	18: 10,116,778	C453S	possibly damaging	Het
Scarf1	G	T	11: 75,515,669	G260W	probably damaging	Het
Scyl1	T	C	19: 5,760,571	E538G	probably damaging	Het
Sec14l5	A	T	16: 5,172,995	I267F	probably damaging	Het
Senp6	T	A	9: 80,113,806	V256D	probably benign	Het
Sf3b4	G	A	3: 96,176,728		probably benign	Het
Ssh1	T	C	5: 113,961,347		probably null	Het
Tas2r143	A	C	6: 42,400,835	M200L	probably benign	Het
Tbc1d22a	C	T	15: 86,214,629	P19S	probably damaging	Het
Tmc5	T	A	7: 118,633,966	M1K	probably null	Het
Tnc	T	C	4: 64,000,733	Y1151C	probably damaging	Het
Txndc11	C	T	16: 11,084,792	V664M	probably damaging	Het
Ube2g1	A	T	11: 72,663,082	N20Y	probably damaging	Het
Ufl1	T	A	4: 25,265,476	I369L	probably benign	Het
Vwf	A	T	6: 125,683,526	T2666S	probably benign	Het
Yif1a	A	G	19: 5,092,341	M259V	probably benign	Het
Zbtb46	T	C	2: 181,391,455	D471G	probably damaging	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
R0364: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
R6481:Tshz3	UTSW	7	36752339	splice site	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
R7851:Tshz3	UTSW	7	36771589	missense	probably damaging	1.00
R7938:Tshz3	UTSW	7	36769158	missense	probably damaging	0.99
R8344:Tshz3	UTSW	7	36771537	missense	probably damaging	0.98
R9501:Tshz3	UTSW	7	36771555	missense	probably damaging	1.00
R9583:Tshz3	UTSW	7	36771067	missense	possibly damaging	0.71
X0067:Tshz3	UTSW	7	36768796	missense	probably benign	0.19
X0067:Tshz3	UTSW	7	36769321	missense	probably damaging	1.00
Z1186:Tshz3	UTSW	7	36768916	missense	probably benign
Z1186:Tshz3	UTSW	7	36770574	missense	probably benign
Z1191:Tshz3	UTSW	7	36768916	missense	probably benign
Z1191:Tshz3	UTSW	7	36770574	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTCCGTTGCAAAGACTGTAG -3'
(R):5'- CATCAGACAGGGTGGCTTTG -3'

Sequencing Primer
(F):5'- TTGCAAAGACTGTAGCGCCG -3'
(R):5'- TGGGGGTTCCACCTGTG -3'

Posted On

2018-04-27