Mutagenetix > Incidental Mutations

Incidental Mutation 'R1895:Tshz1'

209781

Institutional Source

Beutler Lab

Gene Symbol

Tshz1

Ensembl Gene

ENSMUSG00000046982

Gene Name

teashirt zinc finger family member 1

Synonyms

Mtsh1, teashirt1, Sdccag33, D18Bwg1409e, Tsh1, NY-CO-33, 5730407I04Rik

MMRRC Submission

039915-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84011627-84086404 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84013433 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 950 (L950Q)

Ref Sequence

ENSEMBL: ENSMUSP00000089388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060303]

Predicted Effect

probably damaging
Transcript: ENSMUST00000060303
AA Change: L950Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: L950Q

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
low complexity region	89	100	N/A	INTRINSIC
low complexity region	153	195	N/A	INTRINSIC
ZnF_C2H2	246	270	1.86e0	SMART
ZnF_C2H2	307	331	3.83e-2	SMART
ZnF_C2H2	416	440	5.34e0	SMART
low complexity region	497	515	N/A	INTRINSIC
HOX	890	964	4.15e-4	SMART
ZnF_C2H2	976	998	4.34e-1	SMART
ZnF_C2H2	1044	1067	4.47e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175783

SMART Domains

Protein: ENSMUSP00000135640
Gene: ENSMUSG00000046982

Domain	Start	End	E-Value	Type
ZnF_C2H2	43	67	1.7e-4	SMART
ZnF_C2H2	152	176	2.3e-2	SMART
low complexity region	233	251	N/A	INTRINSIC
HOX	626	700	2.1e-6	SMART
ZnF_C2H2	712	734	1.9e-3	SMART
ZnF_C2H2	780	803	1.8e-5	SMART

Meta Mutation Damage Score

0.6488

Coding Region Coverage

1x: 97.1%
3x: 96.2%
10x: 93.2%
20x: 86.6%

Validation Efficiency

96% (100/104)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adgrb1	A	G	15: 74,540,465	D431G	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Akr1b10	T	A	6: 34,388,870	I110N	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgef12	G	T	9: 43,005,856	Q396K	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
AU015836	T	C	X: 93,969,379		probably benign	Het
Cacna1c	C	T	6: 118,612,625	R1446H	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Cdh8	T	C	8: 99,279,557	T133A	possibly damaging	Het
Cep295	T	C	9: 15,332,103	T1686A	possibly damaging	Het
Col4a3	A	T	1: 82,679,108	K749N	unknown	Het
Col6a3	T	A	1: 90,803,711	M1000L	probably benign	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Dmxl1	G	T	18: 49,955,914		probably null	Het
Dnah10	A	G	5: 124,758,430	D990G	probably benign	Het
Dpp7	G	T	2: 25,353,679		probably null	Het
Eif3l	A	G	15: 79,089,477	N364S	possibly damaging	Het
Epb41l5	T	C	1: 119,549,172	D718G	possibly damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fam20a	T	C	11: 109,673,554	K458E	probably benign	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Glmn	T	C	5: 107,570,244	D269G	probably benign	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gpatch4	A	G	3: 88,052,102	Y106C	probably damaging	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Hdac7	T	C	15: 97,796,886	D701G	probably damaging	Het
Hectd2	T	A	19: 36,614,460	I687K	probably damaging	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Ilf3	T	A	9: 21,404,767		probably benign	Het
Kdm4b	T	A	17: 56,397,340	V272E	probably damaging	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kif11	G	A	19: 37,387,399	R220K	probably damaging	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Muc5b	A	C	7: 141,857,645	T1443P	unknown	Het
Mxi1	G	A	19: 53,370,344	R236H	probably benign	Het
Nav1	A	T	1: 135,458,658	W1211R	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Nxpe5	T	C	5: 138,251,523	V525A	probably damaging	Het
Oas1f	A	T	5: 120,855,585	T287S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Olfr522	T	A	7: 140,162,813	I46F	possibly damaging	Het
Palm2	T	C	4: 57,638,068	V35A	probably benign	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Plekha7	T	C	7: 116,144,974	E764G	probably damaging	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Prob1	T	A	18: 35,652,889	T771S	possibly damaging	Het
Rasa3	A	G	8: 13,631,768		probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Serpinb2	T	A	1: 107,524,607	V305D	probably damaging	Het
Slc11a2	G	A	15: 100,403,894	R249C	probably benign	Het
Slc14a1	T	C	18: 78,109,697	I276V	possibly damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Ssh2	C	G	11: 77,449,745	D574E	probably damaging	Het
Stil	T	C	4: 115,023,875	S539P	probably benign	Het
Syt4	T	C	18: 31,444,088	K71R	probably damaging	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tm4sf19	A	G	16: 32,407,682	Y138C	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	Het

Other mutations in Tshz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Tshz1	APN	18	84013509	missense	possibly damaging	0.94
IGL02934:Tshz1	APN	18	84013090	missense	probably damaging	1.00
ANU18:Tshz1	UTSW	18	84014661	missense	probably damaging	1.00
PIT4810001:Tshz1	UTSW	18	84013250	missense	possibly damaging	0.85
R0052:Tshz1	UTSW	18	84014945	missense	possibly damaging	0.76
R0052:Tshz1	UTSW	18	84014945	missense	possibly damaging	0.76
R0364:Tshz1	UTSW	18	84016124	missense	probably benign	0.31
R0391:Tshz1	UTSW	18	84016049	missense	possibly damaging	0.93
R0515:Tshz1	UTSW	18	84015965	missense	probably benign
R0942:Tshz1	UTSW	18	84013053	missense	probably damaging	0.99
R0943:Tshz1	UTSW	18	84015231	missense	probably benign	0.04
R1472:Tshz1	UTSW	18	84013805	missense	possibly damaging	0.93
R2022:Tshz1	UTSW	18	84013862	missense	probably damaging	0.98
R2860:Tshz1	UTSW	18	84014980	missense	probably damaging	1.00
R2861:Tshz1	UTSW	18	84014980	missense	probably damaging	1.00
R4027:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4028:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4030:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4031:Tshz1	UTSW	18	84014829	missense	possibly damaging	0.74
R4119:Tshz1	UTSW	18	84014189	missense	probably benign	0.00
R4233:Tshz1	UTSW	18	84016195	missense	probably benign	0.00
R4573:Tshz1	UTSW	18	84015082	missense	probably damaging	1.00
R4604:Tshz1	UTSW	18	84013374	missense	probably damaging	1.00
R4960:Tshz1	UTSW	18	84014862	missense	probably benign	0.08
R5085:Tshz1	UTSW	18	84013928	missense	probably benign	0.01
R5124:Tshz1	UTSW	18	84015467	missense	probably damaging	1.00
R5150:Tshz1	UTSW	18	84013215	nonsense	probably null
R5357:Tshz1	UTSW	18	84015080	missense	probably damaging	1.00
R5530:Tshz1	UTSW	18	84013268	missense	probably damaging	1.00
R5718:Tshz1	UTSW	18	84014524	missense	probably damaging	1.00
R5750:Tshz1	UTSW	18	84013961	missense	possibly damaging	0.93
R5778:Tshz1	UTSW	18	84015680	missense	probably damaging	1.00
R6052:Tshz1	UTSW	18	84014069	missense	probably damaging	1.00
R6279:Tshz1	UTSW	18	84015311	missense	probably damaging	1.00
R6393:Tshz1	UTSW	18	84013220	missense	probably damaging	1.00
R6407:Tshz1	UTSW	18	84015966	missense	possibly damaging	0.55
R6425:Tshz1	UTSW	18	84015563	missense	probably damaging	0.99
R6998:Tshz1	UTSW	18	84015841	missense	probably benign	0.00
R7165:Tshz1	UTSW	18	84015927	missense	probably damaging	1.00
R7233:Tshz1	UTSW	18	84014819	missense	possibly damaging	0.63
R7330:Tshz1	UTSW	18	84014831	missense	probably damaging	0.96
R7491:Tshz1	UTSW	18	84015641	missense	probably damaging	1.00
R7579:Tshz1	UTSW	18	84014665	nonsense	probably null
R7592:Tshz1	UTSW	18	84014048	missense	probably damaging	1.00
R7659:Tshz1	UTSW	18	84016075	missense	probably damaging	0.97
R7702:Tshz1	UTSW	18	84014336	missense	probably damaging	1.00
R7844:Tshz1	UTSW	18	84014171	missense	probably benign	0.00
R7908:Tshz1	UTSW	18	84014607	nonsense	probably null
R7927:Tshz1	UTSW	18	84014171	missense	probably benign	0.00
R7989:Tshz1	UTSW	18	84014607	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACGACACTCTGCTGCTCTTG -3'
(R):5'- TCACCTGTTCACAAGAGAAAGG -3'

Sequencing Primer
(F):5'- CTGCTGCTCTTGTATCTGACTGAG -3'
(R):5'- AGGGGCGCCAGTCCAATTG -3'

Posted On

2014-06-30