Mutagenetix > Incidental Mutation

Incidental Mutation 'R1926:Tshz3'

213438

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

039944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36397543-36472978 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36468800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 263 (L263S)

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: L263S

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

SMART Domains

Protein: ENSMUSP00000021641
Gene: ENSMUSG00000021217
AA Change: L263S

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: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.6%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	C	T	7: 119,376,359 (GRCm39)	T362M	probably damaging	Het
Ang6	A	G	14: 44,239,695 (GRCm39)	V11A	possibly damaging	Het
Ankrd17	A	G	5: 90,392,028 (GRCm39)	Y1880H	probably damaging	Het
Bmi1	A	G	2: 18,687,084 (GRCm39)	I55V	probably benign	Het
Bnipl	G	A	3: 95,150,354 (GRCm39)	T297M	probably damaging	Het
Bpifa2	T	C	2: 153,855,669 (GRCm39)	V198A	probably benign	Het
Brms1l	G	T	12: 55,909,946 (GRCm39)	V239F	possibly damaging	Het
Ccdc158	A	G	5: 92,798,647 (GRCm39)	V351A	probably benign	Het
Ces1c	A	G	8: 93,854,232 (GRCm39)	F101S	possibly damaging	Het
Cpb2	T	C	14: 75,479,837 (GRCm39)	Y15H	probably benign	Het
Dglucy	A	T	12: 100,833,414 (GRCm39)	N535I	possibly damaging	Het
Dop1a	C	A	9: 86,405,072 (GRCm39)	H1763Q	probably damaging	Het
Dpy19l1	C	T	9: 24,385,120 (GRCm39)	M236I	probably benign	Het
Efna2	T	C	10: 80,022,710 (GRCm39)	Y85H	probably damaging	Het
Eipr1	A	T	12: 28,914,836 (GRCm39)		probably null	Het
Eln	A	T	5: 134,735,421 (GRCm39)	Y787*	probably null	Het
Erbb2	G	C	11: 98,315,990 (GRCm39)	E364D	probably benign	Het
F5	A	G	1: 164,007,077 (GRCm39)	T294A	probably damaging	Het
Fam47e	A	G	5: 92,733,244 (GRCm39)	T194A	possibly damaging	Het
Galk1	T	C	11: 115,901,073 (GRCm39)	D202G	probably damaging	Het
Glb1l2	T	C	9: 26,682,362 (GRCm39)	D163G	probably damaging	Het
Gmip	A	G	8: 70,268,170 (GRCm39)	E408G	probably benign	Het
Gp1ba	A	T	11: 70,531,715 (GRCm39)		probably benign	Het
Grm3	A	T	5: 9,554,881 (GRCm39)	C804S	probably damaging	Het
Gzmd	A	G	14: 56,367,737 (GRCm39)	C179R	probably damaging	Het
Hadhb	T	A	5: 30,385,935 (GRCm39)	L415Q	possibly damaging	Het
Ift80	T	C	3: 68,823,498 (GRCm39)	Y588C	probably damaging	Het
Jazf1	T	C	6: 53,045,516 (GRCm39)	T13A	probably benign	Het
Kat8	T	A	7: 127,514,467 (GRCm39)	Y67*	probably null	Het
Kcnab1	G	A	3: 65,283,933 (GRCm39)	E384K	possibly damaging	Het
Lhx3	A	T	2: 26,092,200 (GRCm39)	Y230*	probably null	Het
Lmx1b	T	A	2: 33,454,674 (GRCm39)	M365L	probably damaging	Het
Ly6k	G	T	15: 74,669,051 (GRCm39)	P76Q	probably benign	Het
Lypd10	G	A	7: 24,413,541 (GRCm39)	G186R	probably damaging	Het
Map1b	A	T	13: 99,567,200 (GRCm39)	H1840Q	unknown	Het
Map3k2	A	G	18: 32,336,163 (GRCm39)	I117V	probably damaging	Het
Med13	C	A	11: 86,179,899 (GRCm39)	A1350S	possibly damaging	Het
Midn	T	C	10: 79,987,495 (GRCm39)	S109P	probably damaging	Het
Msh6	A	G	17: 88,293,653 (GRCm39)	T803A	probably benign	Het
Nckap1	T	C	2: 80,337,182 (GRCm39)	Y1018C	probably damaging	Het
Ndufc1	A	T	3: 51,314,816 (GRCm39)	N63K	probably benign	Het
Neb	A	T	2: 52,169,647 (GRCm39)	S1811R	probably damaging	Het
Notch1	T	C	2: 26,371,669 (GRCm39)	D260G	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Oas1g	T	C	5: 121,017,205 (GRCm39)	K283R	probably benign	Het
Obscn	T	C	11: 58,954,300 (GRCm39)	T4037A		Het
Or6b1	T	G	6: 42,815,247 (GRCm39)	L144R	probably damaging	Het
Or6b3	A	G	1: 92,439,330 (GRCm39)	L140P	probably damaging	Het
Otop2	A	T	11: 115,217,781 (GRCm39)	T206S	probably benign	Het
Pamr1	A	G	2: 102,471,342 (GRCm39)		probably null	Het
Pkp1	G	A	1: 135,805,411 (GRCm39)	T675I	probably benign	Het
Plxna2	G	A	1: 194,444,758 (GRCm39)	V717I	probably benign	Het
Ptgs2	T	C	1: 149,975,979 (GRCm39)	L2P	possibly damaging	Het
Rarg	A	G	15: 102,147,980 (GRCm39)	F277S	probably damaging	Het
Rassf5	A	T	1: 131,140,076 (GRCm39)	I161N	probably damaging	Het
Resf1	C	T	6: 149,230,902 (GRCm39)	T1316I	probably benign	Het
Rxfp4	A	G	3: 88,559,659 (GRCm39)	V264A	probably benign	Het
Secisbp2l	T	A	2: 125,582,597 (GRCm39)	Q953L	probably damaging	Het
Serpinb9c	T	C	13: 33,334,218 (GRCm39)	I275V	probably benign	Het
Slc2a12	T	C	10: 22,541,141 (GRCm39)	V332A	probably damaging	Het
Slc7a1	T	C	5: 148,285,113 (GRCm39)	S127G	probably damaging	Het
Slc7a4	A	T	16: 17,393,568 (GRCm39)	V77E	probably damaging	Het
Sp8	G	A	12: 118,812,964 (GRCm39)	S273N	possibly damaging	Het
Spag6l	G	T	16: 16,580,921 (GRCm39)	N475K	probably benign	Het
St18	A	G	1: 6,872,913 (GRCm39)	H216R	probably benign	Het
Tcirg1	C	T	19: 3,952,843 (GRCm39)		probably benign	Het
Tmeff1	A	G	4: 48,658,788 (GRCm39)	Y87C	probably damaging	Het
Tmem94	T	C	11: 115,683,726 (GRCm39)	V713A	possibly damaging	Het
Tnrc6b	G	T	15: 80,765,363 (GRCm39)	R955L	probably damaging	Het
Trip12	A	G	1: 84,727,012 (GRCm39)	V1153A	probably damaging	Het
Tubb6	G	A	18: 67,534,391 (GRCm39)		probably null	Het
Ube3a	T	C	7: 58,926,127 (GRCm39)	W302R	probably damaging	Het
Vcpkmt	A	T	12: 69,629,519 (GRCm39)	V81E	probably damaging	Het
Vmn1r175	T	A	7: 23,508,466 (GRCm39)	I54F	possibly damaging	Het
Vwa8	T	A	14: 79,258,075 (GRCm39)	N741K	probably benign	Het
Yeats2	A	G	16: 20,033,176 (GRCm39)	T1034A	probably benign	Het
Zc3h6	G	A	2: 128,839,715 (GRCm39)	R176Q	probably damaging	Het
Zfp207	T	A	11: 80,286,253 (GRCm39)	Y424*	probably null	Het
Zfp729a	A	G	13: 67,767,676 (GRCm39)	V851A	probably benign	Het
Zkscan1	G	T	5: 138,099,625 (GRCm39)	A450S	probably benign	Het
Zkscan3	A	G	13: 21,580,616 (GRCm39)	V24A	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AGGTGTCCCAGAACCGAATG -3'
(R):5'- AGCAGCAGGGATGATTTTGGC -3'

Sequencing Primer
(F):5'- AGAACCGAATGCTGCCG -3'
(R):5'- CAGGGATGATTTTGGCTGCAAC -3'

Posted On

2014-07-14