Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Tshz1'

382333

Institutional Source

Beutler Lab

Gene Symbol

Tshz1

Ensembl Gene

ENSMUSG00000046982

Gene Name

teashirt zinc finger family member 1

Synonyms

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

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84029752-84105831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84032987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 474 (T474A)

Ref Sequence

ENSEMBL: ENSMUSP00000089388 (fasta)

Gene Model

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

AlphaFold

Q5DTH5

Predicted Effect

probably benign
Transcript: ENSMUST00000060303
AA Change: T474A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: T474A

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	T	6: 142,566,509 (GRCm39)		probably null	Het
Abtb3	A	C	10: 85,487,526 (GRCm39)	N998T	probably benign	Het
Adamts20	T	C	15: 94,277,655 (GRCm39)	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,342,410 (GRCm39)	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,216,185 (GRCm39)	T863P	probably damaging	Het
Adcy3	G	T	12: 4,184,896 (GRCm39)	V191L	probably benign	Het
Akap9	G	T	5: 4,007,664 (GRCm39)	R244L	probably benign	Het
Anapc1	C	T	2: 128,526,514 (GRCm39)	V95M	probably benign	Het
Arhgap17	G	T	7: 122,886,149 (GRCm39)		probably benign	Het
Art2b	T	A	7: 101,229,437 (GRCm39)	Y154F	probably damaging	Het
Atrn	C	T	2: 130,836,967 (GRCm39)	R1144*	probably null	Het
Atxn3	T	C	12: 101,914,638 (GRCm39)	S29G	possibly damaging	Het
Batf3	C	T	1: 190,830,707 (GRCm39)	P18S	probably benign	Het
Bmal1	T	A	7: 112,898,642 (GRCm39)		probably null	Het
Bmpr1b	A	T	3: 141,576,546 (GRCm39)	C96S	probably damaging	Het
Bola1	A	G	3: 96,104,370 (GRCm39)	S75P	probably benign	Het
Cela3a	G	A	4: 137,129,959 (GRCm39)	R221*	probably null	Het
Chat	A	G	14: 32,142,771 (GRCm39)	V406A	possibly damaging	Het
Chd1	T	A	17: 15,962,493 (GRCm39)	M750K	probably damaging	Het
Clip1	T	A	5: 123,792,066 (GRCm39)	K35*	probably null	Het
Cnr2	G	A	4: 135,644,918 (GRCm39)	G332D	probably benign	Het
Cnrip1	A	G	11: 17,002,228 (GRCm39)	D20G	probably damaging	Het
Col2a1	T	C	15: 97,874,030 (GRCm39)	Y1384C	unknown	Het
Col6a3	T	A	1: 90,731,940 (GRCm39)	I831F	probably damaging	Het
Cp	G	A	3: 20,027,961 (GRCm39)	V456I	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctbp2	T	C	7: 132,615,967 (GRCm39)	I323V	probably benign	Het
Ctnna2	C	T	6: 77,630,094 (GRCm39)	R120H	probably damaging	Het
Cyp2a12	A	G	7: 26,733,575 (GRCm39)	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,151,766 (GRCm39)		probably null	Het
Cyp2j8	T	C	4: 96,395,614 (GRCm39)	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,773,674 (GRCm39)	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,571 (GRCm39)	R275*	probably null	Het
Deup1	G	T	9: 15,512,264 (GRCm39)	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,404,280 (GRCm39)	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,272,886 (GRCm39)	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,940,969 (GRCm39)	L62V	probably benign	Het
Ephb3	A	G	16: 21,039,245 (GRCm39)	K367R	probably benign	Het
Etv3	A	G	3: 87,435,368 (GRCm39)	K80E	probably damaging	Het
Flacc1	T	A	1: 58,706,965 (GRCm39)	E234V	probably damaging	Het
Gdap1l1	T	C	2: 163,295,779 (GRCm39)	F346L	probably benign	Het
Gm4787	C	T	12: 81,426,090 (GRCm39)	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306 (GRCm39)	I1508N	probably damaging	Het
Heatr5b	G	A	17: 79,139,013 (GRCm39)	T43I	probably benign	Het
Hephl1	T	C	9: 14,997,586 (GRCm39)	Y360C	probably damaging	Het
Itgam	A	C	7: 127,715,012 (GRCm39)	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,054,186 (GRCm39)		probably benign	Het
Kidins220	T	A	12: 25,042,259 (GRCm39)	C185*	probably null	Het
Klhl35	G	T	7: 99,118,275 (GRCm39)	G273V	probably damaging	Het
Lama5	A	G	2: 179,850,045 (GRCm39)		probably null	Het
Lamc3	A	G	2: 31,805,966 (GRCm39)	Q689R	probably benign	Het
Lnx2	C	T	5: 146,955,850 (GRCm39)	V649I	probably benign	Het
Lrrc43	A	G	5: 123,637,675 (GRCm39)	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,290,730 (GRCm39)	A67S	probably benign	Het
Map1b	A	G	13: 99,568,720 (GRCm39)	S1334P	probably benign	Het
Mast1	T	A	8: 85,644,500 (GRCm39)	T810S	probably benign	Het
Matcap1	G	T	8: 106,009,843 (GRCm39)	R369S	probably damaging	Het
Mbnl1	A	G	3: 60,503,117 (GRCm39)	M1V	probably null	Het
Mc5r	T	G	18: 68,471,890 (GRCm39)	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,435,941 (GRCm39)	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,335,088 (GRCm39)	C138*	probably null	Het
Mtarc2	T	A	1: 184,566,116 (GRCm39)	M186L	probably benign	Het
Ncbp1	C	T	4: 46,165,273 (GRCm39)	Q529*	probably null	Het
Nherf1	A	G	11: 115,067,289 (GRCm39)	D180G	probably benign	Het
Nrcam	A	G	12: 44,613,082 (GRCm39)	D591G	probably benign	Het
Nrxn3	A	T	12: 88,761,971 (GRCm39)	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342 (GRCm39)	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,448,342 (GRCm39)		probably benign	Het
Omt2a	T	A	9: 78,220,305 (GRCm39)	E31D	possibly damaging	Het
Or4f62	A	G	2: 111,986,697 (GRCm39)	T134A	probably benign	Het
Or52n2b	A	G	7: 104,565,915 (GRCm39)	I196T	probably benign	Het
Or5ac20	A	G	16: 59,104,348 (GRCm39)	S171P	probably benign	Het
Or6c88	A	C	10: 129,406,895 (GRCm39)	I124L	probably damaging	Het
Or9a2	C	A	6: 41,749,003 (GRCm39)	V77F	probably damaging	Het
Phyhipl	A	G	10: 70,404,815 (GRCm39)	V131A	probably benign	Het
Pik3r5	A	G	11: 68,384,464 (GRCm39)	M619V	probably benign	Het
Pramel19	T	C	4: 101,798,661 (GRCm39)	Y211H	probably benign	Het
Ptprg	A	T	14: 12,237,837 (GRCm38)	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029 (GRCm39)	T85A	probably damaging	Het
Rtn3	A	T	19: 7,433,886 (GRCm39)	I683K	probably damaging	Het
Rwdd3	A	G	3: 120,952,470 (GRCm39)	F174L	probably damaging	Het
Ryr1	T	C	7: 28,778,208 (GRCm39)	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,511,407 (GRCm39)	D111G	probably damaging	Het
Sema3e	A	G	5: 14,302,646 (GRCm39)	R724G	possibly damaging	Het
She	A	G	3: 89,741,544 (GRCm39)	M232V	possibly damaging	Het
Skic3	T	A	13: 76,333,275 (GRCm39)	V1508E	possibly damaging	Het
Slc25a54	A	T	3: 109,020,132 (GRCm39)	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,331,875 (GRCm39)	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,097,967 (GRCm39)	L38H	probably damaging	Het
Snap47	A	T	11: 59,319,369 (GRCm39)	D256E	probably damaging	Het
Tacc3	A	G	5: 33,829,326 (GRCm39)	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,103,121 (GRCm39)	T637M	probably benign	Het
Tbcd	T	A	11: 121,464,681 (GRCm39)	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460 (GRCm38)	D68E	probably benign	Het
Tmpo	G	A	10: 90,989,171 (GRCm39)	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,345,445 (GRCm39)		probably benign	Het
Tnfaip1	A	T	11: 78,418,396 (GRCm39)	C224S	possibly damaging	Het
Tspoap1	C	T	11: 87,657,222 (GRCm39)	Q345*	probably null	Het
Ttc21a	A	G	9: 119,774,067 (GRCm39)	E258G	possibly damaging	Het
Ttyh1	T	C	7: 4,131,225 (GRCm39)	L232P	probably damaging	Het
Usp2	T	A	9: 43,987,110 (GRCm39)	L136Q	probably damaging	Het
Usp31	T	C	7: 121,247,868 (GRCm39)	S1192G	probably damaging	Het

Other mutations in Tshz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01486:Tshz1	APN	18	84,031,634 (GRCm39)	missense	possibly damaging	0.94
IGL02934:Tshz1	APN	18	84,031,215 (GRCm39)	missense	probably damaging	1.00
ANU18:Tshz1	UTSW	18	84,032,786 (GRCm39)	missense	probably damaging	1.00
PIT4810001:Tshz1	UTSW	18	84,031,375 (GRCm39)	missense	possibly damaging	0.85
R0052:Tshz1	UTSW	18	84,033,070 (GRCm39)	missense	possibly damaging	0.76
R0052:Tshz1	UTSW	18	84,033,070 (GRCm39)	missense	possibly damaging	0.76
R0364:Tshz1	UTSW	18	84,034,249 (GRCm39)	missense	probably benign	0.31
R0391:Tshz1	UTSW	18	84,034,174 (GRCm39)	missense	possibly damaging	0.93
R0515:Tshz1	UTSW	18	84,034,090 (GRCm39)	missense	probably benign
R0942:Tshz1	UTSW	18	84,031,178 (GRCm39)	missense	probably damaging	0.99
R0943:Tshz1	UTSW	18	84,033,356 (GRCm39)	missense	probably benign	0.04
R1472:Tshz1	UTSW	18	84,031,930 (GRCm39)	missense	possibly damaging	0.93
R1895:Tshz1	UTSW	18	84,031,558 (GRCm39)	missense	probably damaging	1.00
R2022:Tshz1	UTSW	18	84,031,987 (GRCm39)	missense	probably damaging	0.98
R2860:Tshz1	UTSW	18	84,033,105 (GRCm39)	missense	probably damaging	1.00
R2861:Tshz1	UTSW	18	84,033,105 (GRCm39)	missense	probably damaging	1.00
R4027:Tshz1	UTSW	18	84,032,954 (GRCm39)	missense	possibly damaging	0.74
R4028:Tshz1	UTSW	18	84,032,954 (GRCm39)	missense	possibly damaging	0.74
R4030:Tshz1	UTSW	18	84,032,954 (GRCm39)	missense	possibly damaging	0.74
R4031:Tshz1	UTSW	18	84,032,954 (GRCm39)	missense	possibly damaging	0.74
R4119:Tshz1	UTSW	18	84,032,314 (GRCm39)	missense	probably benign	0.00
R4233:Tshz1	UTSW	18	84,034,320 (GRCm39)	missense	probably benign	0.00
R4573:Tshz1	UTSW	18	84,033,207 (GRCm39)	missense	probably damaging	1.00
R4604:Tshz1	UTSW	18	84,031,499 (GRCm39)	missense	probably damaging	1.00
R5085:Tshz1	UTSW	18	84,032,053 (GRCm39)	missense	probably benign	0.01
R5124:Tshz1	UTSW	18	84,033,592 (GRCm39)	missense	probably damaging	1.00
R5150:Tshz1	UTSW	18	84,031,340 (GRCm39)	nonsense	probably null
R5357:Tshz1	UTSW	18	84,033,205 (GRCm39)	missense	probably damaging	1.00
R5530:Tshz1	UTSW	18	84,031,393 (GRCm39)	missense	probably damaging	1.00
R5718:Tshz1	UTSW	18	84,032,649 (GRCm39)	missense	probably damaging	1.00
R5750:Tshz1	UTSW	18	84,032,086 (GRCm39)	missense	possibly damaging	0.93
R5778:Tshz1	UTSW	18	84,033,805 (GRCm39)	missense	probably damaging	1.00
R6052:Tshz1	UTSW	18	84,032,194 (GRCm39)	missense	probably damaging	1.00
R6279:Tshz1	UTSW	18	84,033,436 (GRCm39)	missense	probably damaging	1.00
R6393:Tshz1	UTSW	18	84,031,345 (GRCm39)	missense	probably damaging	1.00
R6407:Tshz1	UTSW	18	84,034,091 (GRCm39)	missense	possibly damaging	0.55
R6425:Tshz1	UTSW	18	84,033,688 (GRCm39)	missense	probably damaging	0.99
R6998:Tshz1	UTSW	18	84,033,966 (GRCm39)	missense	probably benign	0.00
R7165:Tshz1	UTSW	18	84,034,052 (GRCm39)	missense	probably damaging	1.00
R7233:Tshz1	UTSW	18	84,032,944 (GRCm39)	missense	possibly damaging	0.63
R7330:Tshz1	UTSW	18	84,032,956 (GRCm39)	missense	probably damaging	0.96
R7491:Tshz1	UTSW	18	84,033,766 (GRCm39)	missense	probably damaging	1.00
R7579:Tshz1	UTSW	18	84,032,790 (GRCm39)	nonsense	probably null
R7592:Tshz1	UTSW	18	84,032,173 (GRCm39)	missense	probably damaging	1.00
R7659:Tshz1	UTSW	18	84,034,200 (GRCm39)	missense	probably damaging	0.97
R7702:Tshz1	UTSW	18	84,032,461 (GRCm39)	missense	probably damaging	1.00
R7844:Tshz1	UTSW	18	84,032,296 (GRCm39)	missense	probably benign	0.00
R7908:Tshz1	UTSW	18	84,032,732 (GRCm39)	nonsense	probably null
R7941:Tshz1	UTSW	18	84,033,517 (GRCm39)	missense	possibly damaging	0.91
R7947:Tshz1	UTSW	18	84,033,782 (GRCm39)	missense	probably damaging	1.00
R8435:Tshz1	UTSW	18	84,032,149 (GRCm39)	missense	probably damaging	1.00
R8750:Tshz1	UTSW	18	84,033,162 (GRCm39)	missense	probably damaging	1.00
R8774:Tshz1	UTSW	18	84,033,101 (GRCm39)	missense	possibly damaging	0.96
R8774-TAIL:Tshz1	UTSW	18	84,033,101 (GRCm39)	missense	possibly damaging	0.96
R9029:Tshz1	UTSW	18	84,031,639 (GRCm39)	missense	probably damaging	0.98
R9031:Tshz1	UTSW	18	84,032,987 (GRCm39)	missense	probably benign	0.08
R9573:Tshz1	UTSW	18	84,032,404 (GRCm39)	missense	probably benign	0.45
R9584:Tshz1	UTSW	18	84,033,089 (GRCm39)	missense	probably damaging	1.00
R9596:Tshz1	UTSW	18	84,031,904 (GRCm39)	missense	possibly damaging	0.92
R9701:Tshz1	UTSW	18	84,032,579 (GRCm39)	missense	possibly damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCTGTCATCTAGGTCTTCC -3'
(R):5'- TGCATGGAATGTGGCAGCTC -3'

Sequencing Primer
(F):5'- AGTGGGCTCAAACTTCTCAG -3'
(R):5'- GAATGTGGCAGCTCCCATGATAC -3'

Posted On

2016-04-27