Mutagenetix > Incidental Mutation

Incidental Mutation 'R2022:Tshz1'

224243

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

040031-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2022 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84029752-84105831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84031987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 807 (Y807F)

Ref Sequence

ENSEMBL: ENSMUSP00000089388 (fasta)

Gene Model

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

AlphaFold

Q5DTH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000060303
AA Change: Y807F

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: Y807F

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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Akr1cl	T	A	1: 65,053,857 (GRCm39)	Y271F	probably benign	Het
Asnsd1	A	G	1: 53,386,386 (GRCm39)	S414P	possibly damaging	Het
Atp12a	T	A	14: 56,602,739 (GRCm39)	M1K	probably null	Het
Atp4b	A	C	8: 13,437,477 (GRCm39)	N225K	possibly damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Cactin	C	T	10: 81,158,727 (GRCm39)	T231I	possibly damaging	Het
Casp8ap2	T	C	4: 32,644,560 (GRCm39)	V1211A	probably benign	Het
Ccdc180	C	A	4: 45,944,418 (GRCm39)	H1423N	probably benign	Het
Cfap251	G	A	5: 123,411,853 (GRCm39)	G495D	probably benign	Het
Chd9	T	C	8: 91,761,682 (GRCm39)	Y2256H	probably benign	Het
Chst8	A	G	7: 34,374,589 (GRCm39)	Y417H	possibly damaging	Het
Clcn6	A	G	4: 148,095,109 (GRCm39)		probably null	Het
Clec5a	A	T	6: 40,562,128 (GRCm39)	V12E	probably damaging	Het
Crebbp	C	T	16: 3,903,683 (GRCm39)	R1852H	probably damaging	Het
Cyp2c40	T	A	19: 39,801,224 (GRCm39)		probably benign	Het
Dip2c	T	C	13: 9,601,836 (GRCm39)	L265P	probably damaging	Het
Dnah3	A	G	7: 119,550,465 (GRCm39)	Y3274H	probably damaging	Het
Dnah6	T	A	6: 73,004,405 (GRCm39)	T3853S	probably benign	Het
Dnttip2	T	C	3: 122,069,870 (GRCm39)	S362P	probably damaging	Het
Dst	G	A	1: 34,205,372 (GRCm39)	V1025I	possibly damaging	Het
Dym	T	C	18: 75,213,321 (GRCm39)	V181A	probably benign	Het
Dynlt4	A	G	4: 116,985,504 (GRCm39)	E109G	possibly damaging	Het
Elk3	T	A	10: 93,101,539 (GRCm39)	I71F	probably damaging	Het
Epb41l4a	C	T	18: 34,054,893 (GRCm39)	S65N	probably benign	Het
Erap1	T	A	13: 74,814,627 (GRCm39)	V451E	probably benign	Het
F830045P16Rik	T	A	2: 129,314,585 (GRCm39)	I231F	probably damaging	Het
Fahd1	T	C	17: 25,068,814 (GRCm39)	I88V	probably benign	Het
Fam120b	C	T	17: 15,644,638 (GRCm39)	T744I	possibly damaging	Het
Fam83f	T	G	15: 80,576,468 (GRCm39)	V373G	possibly damaging	Het
Frem1	G	T	4: 82,831,795 (GRCm39)	T1988K	probably benign	Het
Gdap1l1	A	T	2: 163,289,517 (GRCm39)	T161S	probably benign	Het
Gm6309	C	T	5: 146,105,121 (GRCm39)	G264D	probably benign	Het
Hsd11b1	T	C	1: 192,922,686 (GRCm39)	T124A	probably benign	Het
Ino80b	A	G	6: 83,101,353 (GRCm39)	M119T	probably damaging	Het
Kif3a	G	A	11: 53,461,408 (GRCm39)	V17M	probably damaging	Het
Krt40	T	A	11: 99,430,818 (GRCm39)	E285D	probably damaging	Het
Lair1	C	G	7: 4,066,063 (GRCm39)		probably null	Het
Lvrn	A	G	18: 46,999,503 (GRCm39)	T290A	possibly damaging	Het
Macf1	G	T	4: 123,366,523 (GRCm39)	A2746E	probably damaging	Het
Matn4	A	G	2: 164,242,573 (GRCm39)	V175A	probably damaging	Het
Mok	A	T	12: 110,778,257 (GRCm39)	D216E	probably benign	Het
Muc15	A	T	2: 110,561,821 (GRCm39)	T86S	probably benign	Het
Myo16	A	G	8: 10,322,633 (GRCm39)	K21R	probably benign	Het
Ncl	A	G	1: 86,284,677 (GRCm39)		probably null	Het
Nfrkb	C	T	9: 31,322,546 (GRCm39)	T872I	probably benign	Het
Nhlrc2	A	T	19: 56,585,710 (GRCm39)	E648D	probably benign	Het
Nlrp9c	A	T	7: 26,084,221 (GRCm39)	Y453N	probably damaging	Het
Notch4	T	C	17: 34,806,502 (GRCm39)	L1813P	probably damaging	Het
Nrg3	T	A	14: 38,098,309 (GRCm39)	D515V	probably damaging	Het
Nsd1	T	C	13: 55,361,092 (GRCm39)	V20A	probably damaging	Het
Opn4	T	A	14: 34,319,028 (GRCm39)	T186S	probably benign	Het
Or9k2	T	C	10: 129,999,049 (GRCm39)	M49V	probably benign	Het
Pcdh15	T	G	10: 74,467,025 (GRCm39)	S1684A	possibly damaging	Het
Phf11a	T	A	14: 59,532,363 (GRCm39)	E24V	possibly damaging	Het
Pigg	A	T	5: 108,460,788 (GRCm39)		probably benign	Het
Plscr2	A	G	9: 92,177,647 (GRCm39)	D136G	probably damaging	Het
Ppp3r2	T	C	4: 49,681,723 (GRCm39)	I76V	probably benign	Het
Prdm6	A	G	18: 53,598,031 (GRCm39)		probably benign	Het
Prex1	A	G	2: 166,417,534 (GRCm39)	W1188R	possibly damaging	Het
Prmt2	T	A	10: 76,061,292 (GRCm39)	R65*	probably null	Het
Prom1	G	T	5: 44,187,068 (GRCm39)	D396E	probably benign	Het
Ptcd3	C	T	6: 71,862,537 (GRCm39)	C466Y	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Rab36	T	C	10: 74,888,306 (GRCm39)	I250T	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Scn11a	G	T	9: 119,640,274 (GRCm39)	A207E	possibly damaging	Het
Serpinb3d	A	G	1: 107,006,182 (GRCm39)	V302A	probably benign	Het
Slc22a16	T	C	10: 40,467,873 (GRCm39)	Y469H	probably damaging	Het
Smo	A	G	6: 29,754,715 (GRCm39)	N262D	possibly damaging	Het
Spata31e5	A	T	1: 28,817,234 (GRCm39)	V266D	probably damaging	Het
Sptan1	C	T	2: 29,897,573 (GRCm39)	A1212V	probably damaging	Het
Ssr1	C	T	13: 38,173,525 (GRCm39)	A79T	probably damaging	Het
Tiam1	T	A	16: 89,674,075 (GRCm39)	T479S	probably benign	Het
Tm9sf3	A	G	19: 41,227,231 (GRCm39)	F280S	probably damaging	Het
Tmem72	T	C	6: 116,673,800 (GRCm39)	H106R	probably damaging	Het
Tnr	A	G	1: 159,679,592 (GRCm39)	I189V	probably benign	Het
Tpbpa	T	A	13: 61,088,036 (GRCm39)	N50I	probably benign	Het
Tspo2	C	T	17: 48,755,750 (GRCm39)	A131T	possibly damaging	Het
Usp16	T	C	16: 87,270,014 (GRCm39)	L322P	probably damaging	Het
Vmn1r185	A	G	7: 26,310,935 (GRCm39)	V190A	possibly damaging	Het
Vmn1r34	T	C	6: 66,614,385 (GRCm39)	K118E	possibly damaging	Het
Vmn1r68	A	G	7: 10,261,918 (GRCm39)	L60P	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,673,454 (GRCm39)	N171D	probably benign	Het
Vps51	T	C	19: 6,121,612 (GRCm39)	E162G	probably benign	Het
Yy1	CGGG	CGGGGGG	12: 108,759,916 (GRCm39)		probably benign	Het
Zdhhc4	C	T	5: 143,307,538 (GRCm39)	R161H	probably damaging	Het
Zfp456	A	T	13: 67,514,616 (GRCm39)	C363*	probably null	Het
Zfp541	T	A	7: 15,816,110 (GRCm39)	S866T	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
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
R4960:Tshz1	UTSW	18	84,032,987 (GRCm39)	missense	probably benign	0.08
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'- TGACTTCTCTGACACCGTGG -3'
(R):5'- TGGGTATCATCACGGACCAC -3'

Sequencing Primer
(F):5'- ACCGTGGAGGGTGTGGAG -3'
(R):5'- GCCGGAGCCTTCTTTCATCAAC -3'

Posted On

2014-08-25