Mutagenetix > Incidental Mutation

Incidental Mutation 'R6535:Tshz3'

520333

Institutional Source

Beutler Lab

Gene Symbol

Tshz3

Ensembl Gene

ENSMUSG00000021217

Gene Name

teashirt zinc finger family member 3

Synonyms

Zfp537, Tsh3, A630038G13Rik, teashirt3

MMRRC Submission

044661-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6535 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36397543-36472978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36468214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 68 (S68P)

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: S68P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: S68P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,750,920 (GRCm39)	S495N	probably benign	Het
Ank3	G	T	10: 69,713,684 (GRCm39)	A448S	probably damaging	Het
Apobec3	A	G	15: 79,781,950 (GRCm39)	*47W	probably null	Het
B4gat1	T	C	19: 5,089,558 (GRCm39)	V185A	possibly damaging	Het
Cers1	T	A	8: 70,782,804 (GRCm39)	V58D	probably damaging	Het
Chrm1	T	A	19: 8,656,437 (GRCm39)	Y381N	possibly damaging	Het
Cpne6	A	T	14: 55,751,122 (GRCm39)	E177V	probably benign	Het
Cpt1a	T	A	19: 3,415,788 (GRCm39)		probably null	Het
Ctsq	A	T	13: 61,183,140 (GRCm39)	I334N	probably damaging	Het
Dennd6b	A	G	15: 89,070,570 (GRCm39)	L400P	probably damaging	Het
Fam135b	A	G	15: 71,493,924 (GRCm39)	S2P	probably damaging	Het
Hip1	T	C	5: 135,457,351 (GRCm39)		probably null	Het
Lama2	A	C	10: 26,980,127 (GRCm39)	L1896R	probably damaging	Het
Ly6g6g	T	C	15: 74,644,074 (GRCm39)	S81G	probably damaging	Het
Macf1	A	T	4: 123,365,728 (GRCm39)	V3011D	possibly damaging	Het
Macrod1	A	G	19: 7,034,515 (GRCm39)	D86G	probably damaging	Het
Mettl8	G	T	2: 70,803,733 (GRCm39)	H185N	possibly damaging	Het
Mipol1	A	C	12: 57,352,886 (GRCm39)	Q75P	possibly damaging	Het
Pi4ka	C	T	16: 17,118,900 (GRCm39)	V125M	probably damaging	Het
Pole	A	C	5: 110,472,673 (GRCm39)	Y1618S	probably damaging	Het
Prrc2a	A	G	17: 35,381,241 (GRCm39)	V21A	unknown	Het
Rhbdl1	A	T	17: 26,054,799 (GRCm39)	Y111*	probably null	Het
Sbk3	A	C	7: 4,972,840 (GRCm39)	M110R	possibly damaging	Het
Scn8a	G	A	15: 100,857,588 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,190 (GRCm39)	S10P	probably damaging	Het
Vmn1r88	C	T	7: 12,912,112 (GRCm39)	T156I	probably benign	Het
Wrn	T	C	8: 33,826,131 (GRCm39)	H177R	probably damaging	Het

Other mutations in Tshz3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01875:Tshz3	APN	7	36,469,385 (GRCm39)	missense	probably damaging	0.97
IGL01922:Tshz3	APN	7	36,469,030 (GRCm39)	missense	probably damaging	1.00
IGL02047:Tshz3	APN	7	36,469,893 (GRCm39)	missense	probably damaging	1.00
IGL02166:Tshz3	APN	7	36,468,346 (GRCm39)	missense	probably benign	0.00
IGL02405:Tshz3	APN	7	36,469,075 (GRCm39)	missense	possibly damaging	0.93
IGL02658:Tshz3	APN	7	36,468,583 (GRCm39)	missense	probably damaging	0.99
IGL02968:Tshz3	APN	7	36,469,249 (GRCm39)	missense	probably damaging	1.00
IGL03073:Tshz3	APN	7	36,470,170 (GRCm39)	missense	probably damaging	1.00
IGL03233:Tshz3	APN	7	36,469,504 (GRCm39)	missense	probably damaging	0.97
IGL03296:Tshz3	APN	7	36,470,761 (GRCm39)	missense	probably damaging	1.00
R0049:Tshz3	UTSW	7	36,469,534 (GRCm39)	missense	probably damaging	1.00
R0049:Tshz3	UTSW	7	36,469,534 (GRCm39)	missense	probably damaging	1.00
R0090:Tshz3	UTSW	7	36,468,317 (GRCm39)	missense	probably benign
R0329:Tshz3	UTSW	7	36,469,458 (GRCm39)	missense	probably benign
R0330:Tshz3	UTSW	7	36,469,458 (GRCm39)	missense	probably benign
R0360:Tshz3	UTSW	7	36,469,958 (GRCm39)	missense	probably benign
R0364:Tshz3	UTSW	7	36,469,958 (GRCm39)	missense	probably benign
R0380:Tshz3	UTSW	7	36,470,725 (GRCm39)	missense	probably damaging	1.00
R0547:Tshz3	UTSW	7	36,470,842 (GRCm39)	missense	probably damaging	1.00
R1061:Tshz3	UTSW	7	36,468,131 (GRCm39)	missense	probably damaging	1.00
R1618:Tshz3	UTSW	7	36,471,221 (GRCm39)	missense	probably damaging	1.00
R1704:Tshz3	UTSW	7	36,470,785 (GRCm39)	missense	possibly damaging	0.92
R1881:Tshz3	UTSW	7	36,471,079 (GRCm39)	missense	possibly damaging	0.87
R1926:Tshz3	UTSW	7	36,468,800 (GRCm39)	missense	probably damaging	1.00
R1994:Tshz3	UTSW	7	36,469,247 (GRCm39)	missense	probably damaging	0.99
R2404:Tshz3	UTSW	7	36,469,805 (GRCm39)	missense	probably damaging	0.99
R2447:Tshz3	UTSW	7	36,468,178 (GRCm39)	missense	probably benign	0.00
R2930:Tshz3	UTSW	7	36,471,017 (GRCm39)	missense	possibly damaging	0.74
R3879:Tshz3	UTSW	7	36,470,962 (GRCm39)	nonsense	probably null
R4033:Tshz3	UTSW	7	36,470,009 (GRCm39)	missense	possibly damaging	0.71
R4212:Tshz3	UTSW	7	36,469,544 (GRCm39)	missense	probably damaging	1.00
R4394:Tshz3	UTSW	7	36,469,030 (GRCm39)	missense	probably damaging	1.00
R4779:Tshz3	UTSW	7	36,468,397 (GRCm39)	missense	probably damaging	1.00
R4977:Tshz3	UTSW	7	36,470,615 (GRCm39)	missense	probably benign	0.31
R5139:Tshz3	UTSW	7	36,470,450 (GRCm39)	missense	probably benign	0.23
R5448:Tshz3	UTSW	7	36,470,654 (GRCm39)	missense	possibly damaging	0.90
R5516:Tshz3	UTSW	7	36,469,775 (GRCm39)	missense	probably benign	0.03
R5760:Tshz3	UTSW	7	36,470,994 (GRCm39)	missense	probably damaging	1.00
R6360:Tshz3	UTSW	7	36,468,866 (GRCm39)	missense	probably damaging	1.00
R6481:Tshz3	UTSW	7	36,451,764 (GRCm39)	splice site	probably null
R7105:Tshz3	UTSW	7	36,469,181 (GRCm39)	missense	probably damaging	1.00
R7133:Tshz3	UTSW	7	36,469,994 (GRCm39)	missense	probably benign	0.12
R7225:Tshz3	UTSW	7	36,469,082 (GRCm39)	missense	probably damaging	1.00
R7238:Tshz3	UTSW	7	36,469,522 (GRCm39)	missense	probably damaging	1.00
R7851:Tshz3	UTSW	7	36,471,014 (GRCm39)	missense	probably damaging	1.00
R7938:Tshz3	UTSW	7	36,468,583 (GRCm39)	missense	probably damaging	0.99
R8344:Tshz3	UTSW	7	36,470,962 (GRCm39)	missense	probably damaging	0.98
R9501:Tshz3	UTSW	7	36,470,980 (GRCm39)	missense	probably damaging	1.00
R9583:Tshz3	UTSW	7	36,470,492 (GRCm39)	missense	possibly damaging	0.71
X0067:Tshz3	UTSW	7	36,468,746 (GRCm39)	missense	probably damaging	1.00
X0067:Tshz3	UTSW	7	36,468,221 (GRCm39)	missense	probably benign	0.19
Z1186:Tshz3	UTSW	7	36,469,999 (GRCm39)	missense	probably benign
Z1186:Tshz3	UTSW	7	36,468,341 (GRCm39)	missense	probably benign
Z1191:Tshz3	UTSW	7	36,469,999 (GRCm39)	missense	probably benign
Z1191:Tshz3	UTSW	7	36,468,341 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATCATGGCAGCCTATGTTTCC -3'
(R):5'- ACCATTGTTCTCGGAGGAGG -3'

Sequencing Primer
(F):5'- TTTCCGATGAGTTAAAGGCAGC -3'
(R):5'- ATTGGACAGGAAGTTGTTGTACAC -3'

Posted On

2018-06-06