Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01486:Tshz1'

88752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tshz1

Ensembl Gene

ENSMUSG00000046982

Gene Name

teashirt zinc finger family member 1

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01486

Quality Score

Status

Chromosome

Chromosomal Location

84029752-84105831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84031634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 925 (S925P)

Ref Sequence

ENSEMBL: ENSMUSP00000089388 (fasta)

Gene Model

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

AlphaFold

Q5DTH5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060303
AA Change: S925P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000089388
Gene: ENSMUSG00000046982
AA Change: S925P

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

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alx3	G	T	3: 107,512,139 (GRCm39)	C259F	probably damaging	Het
Ampd3	G	T	7: 110,409,123 (GRCm39)		probably benign	Het
Atm	T	C	9: 53,421,513 (GRCm39)	I733V	probably benign	Het
Chrd	A	G	16: 20,552,890 (GRCm39)		probably null	Het
Ckm	G	A	7: 19,155,156 (GRCm39)	G262S	probably damaging	Het
Fbn1	A	G	2: 125,231,898 (GRCm39)	V412A	probably benign	Het
Fbxw22	G	T	9: 109,207,941 (GRCm39)	S443R	probably damaging	Het
Hdgfl2	G	T	17: 56,405,733 (GRCm39)	A481S	possibly damaging	Het
Hmcn2	G	A	2: 31,226,633 (GRCm39)	V203M	probably damaging	Het
Kdelr3	T	A	15: 79,407,048 (GRCm39)	V43D	probably damaging	Het
Klk1b8	A	G	7: 43,453,113 (GRCm39)	K235E	probably benign	Het
Macir	A	T	1: 97,573,731 (GRCm39)	S111R	probably damaging	Het
Mapk1	A	T	16: 16,836,144 (GRCm39)		probably benign	Het
Nfic	T	C	10: 81,243,478 (GRCm39)		probably null	Het
Pkd1l2	T	C	8: 117,786,331 (GRCm39)	T625A	probably benign	Het
Psd2	A	G	18: 36,113,388 (GRCm39)	S287G	probably benign	Het
Smap2	A	T	4: 120,830,395 (GRCm39)	F247I	probably damaging	Het
Spata4	T	C	8: 55,055,341 (GRCm39)		probably benign	Het
Tff2	T	G	17: 31,361,316 (GRCm39)	E79A	probably benign	Het
Thsd7a	C	T	6: 12,471,079 (GRCm39)	C513Y	probably damaging	Het
Xrcc4	C	A	13: 90,210,151 (GRCm39)	E98*	probably null	Het
Ypel3	A	G	7: 126,377,033 (GRCm39)	T38A	probably damaging	Het
Zfhx2	C	T	14: 55,304,547 (GRCm39)	G1146R	probably damaging	Het
Zfp446	T	A	7: 12,713,307 (GRCm39)		probably null	Het

Other mutations in Tshz1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-11-18