Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02968:Tshz3'

365694

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 #

IGL02968

Quality Score

Status

Chromosome

Chromosomal Location

36397543-36472978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36469249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 413 (K413E)

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: K413E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: K413E

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
4930590J08Rik	A	T	6: 91,900,454 (GRCm39)	D441V	probably damaging	Het
Abcd1	T	C	X: 72,760,664 (GRCm39)	S10P	possibly damaging	Het
Acad12	T	C	5: 121,748,101 (GRCm39)	S106G	probably benign	Het
C1s1	T	C	6: 124,517,310 (GRCm39)	T127A	probably damaging	Het
Cela3a	A	G	4: 137,131,132 (GRCm39)	V202A	probably damaging	Het
Cenpu	T	C	8: 47,009,230 (GRCm39)		probably null	Het
Dusp9	T	C	X: 72,685,039 (GRCm39)	S222P	probably benign	Het
Exoc5	A	G	14: 49,270,726 (GRCm39)		probably null	Het
Foxp1	G	T	6: 99,052,822 (GRCm39)	A90D	probably damaging	Het
Krt12	G	T	11: 99,308,843 (GRCm39)	A398E	probably damaging	Het
Mtss1	G	T	15: 58,828,364 (GRCm39)	T183K	possibly damaging	Het
Napa	T	C	7: 15,847,266 (GRCm39)		probably benign	Het
Nlrp2	T	C	7: 5,304,024 (GRCm39)	E167G	possibly damaging	Het
Nos2	T	C	11: 78,828,463 (GRCm39)	Y148H	probably damaging	Het
Or2t43	T	C	11: 58,458,021 (GRCm39)	D50G	possibly damaging	Het
Or51aa5	C	T	7: 103,167,466 (GRCm39)	V42M	probably damaging	Het
Or52e18	A	T	7: 104,609,451 (GRCm39)	F163I	possibly damaging	Het
Pde7a	G	A	3: 19,297,285 (GRCm39)	R122*	probably null	Het
Pkdrej	A	T	15: 85,700,382 (GRCm39)	Y1851*	probably null	Het
Rbl1	C	T	2: 157,019,194 (GRCm39)	R517H	probably damaging	Het
Rnf10	A	T	5: 115,383,947 (GRCm39)	S661T	probably benign	Het
Ryr1	T	C	7: 28,743,318 (GRCm39)	D3886G	probably damaging	Het
Samd9l	A	G	6: 3,376,026 (GRCm39)	Y412H	probably damaging	Het
Scarf1	T	C	11: 75,414,915 (GRCm39)	S530P	probably damaging	Het
Spam1	A	G	6: 24,796,442 (GRCm39)	E131G	possibly damaging	Het
Tmem185b	C	A	1: 119,454,851 (GRCm39)	A204E	possibly damaging	Het
Vps13d	A	G	4: 144,849,068 (GRCm39)	S2448P	probably benign	Het
Xkr5	T	C	8: 18,983,641 (GRCm39)	S634G	probably benign	Het
Zic1	G	A	9: 91,244,543 (GRCm39)	T372M	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
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

2015-12-18