Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01922:Tshz3'

180129

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tshz3

Ensembl Gene

ENSMUSG00000021217

Gene Name

teashirt zinc finger family member 3

Synonyms

Zfp537, Tsh3, A630038G13Rik, teashirt3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01922

Quality Score

Status

Chromosome

Chromosomal Location

36397543-36472978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36469030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 340 (T340A)

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: T340A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: T340A

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	C	A	7: 133,539,201 (GRCm39)	G104*	probably null	Het
Adamtsl1	A	G	4: 86,168,139 (GRCm39)	K477R	probably damaging	Het
Arhgap35	A	C	7: 16,298,180 (GRCm39)	V295G	possibly damaging	Het
Cacna1c	A	T	6: 118,629,629 (GRCm39)	I1234N	probably damaging	Het
Cntnap5c	A	G	17: 58,637,114 (GRCm39)	E997G	possibly damaging	Het
Cog6	T	C	3: 52,893,846 (GRCm39)	N601S	probably benign	Het
Col28a1	G	T	6: 8,158,133 (GRCm39)	D308E	probably damaging	Het
Cplane1	A	G	15: 8,300,305 (GRCm39)	K3204R	unknown	Het
Cspg4	G	A	9: 56,795,171 (GRCm39)	D969N	probably damaging	Het
Dhx8	G	A	11: 101,630,633 (GRCm39)	V347I	probably damaging	Het
Dnah9	G	T	11: 65,965,860 (GRCm39)		probably benign	Het
Erap1	T	C	13: 74,810,506 (GRCm39)	Y282H	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-T3	A	G	17: 36,497,992 (GRCm39)	M307T	possibly damaging	Het
Ifi204	T	C	1: 173,589,288 (GRCm39)	I48V	possibly damaging	Het
Myh1	T	C	11: 67,101,292 (GRCm39)		probably null	Het
Nphp1	T	C	2: 127,621,989 (GRCm39)	Y46C	possibly damaging	Het
Odad3	G	T	9: 21,904,826 (GRCm39)		probably benign	Het
Or14j7	A	T	17: 38,234,850 (GRCm39)	H131L	possibly damaging	Het
Or2t46	G	A	11: 58,471,899 (GRCm39)	M76I	probably benign	Het
Piezo1	G	T	8: 123,219,431 (GRCm39)	S1066R	probably benign	Het
Plekhh1	T	C	12: 79,126,353 (GRCm39)	S1353P	probably benign	Het
Prl6a1	A	T	13: 27,499,343 (GRCm39)	D37V	possibly damaging	Het
Scn4a	A	G	11: 106,229,978 (GRCm39)		probably null	Het
Selenoo	T	C	15: 88,983,852 (GRCm39)	V585A	probably benign	Het
Tmf1	T	C	6: 97,153,891 (GRCm39)	T61A	probably benign	Het
Unc50	A	G	1: 37,476,284 (GRCm39)	D148G	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpc	C	T	6: 91,482,407 (GRCm39)	R192H	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
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
R6535:Tshz3	UTSW	7	36,468,214 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-05-07