Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02936:Tial1'

364339

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tial1

Ensembl Gene

ENSMUSG00000030846

Gene Name

Tia1 cytotoxic granule-associated RNA binding protein-like 1

Synonyms

mTIAR, 5330433G13Rik, TIAR

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

IGL02936

Quality Score

Status

Chromosome

Chromosomal Location

128439777-128461717 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 128442663 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033135] [ENSMUST00000106226] [ENSMUST00000106228] [ENSMUST00000123666] [ENSMUST00000133444] [ENSMUST00000141126] [ENSMUST00000165023] [ENSMUST00000205278] [ENSMUST00000205835]

Predicted Effect

probably benign
Transcript: ENSMUST00000033135

SMART Domains

Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846

Domain	Start	End	E-Value	Type
RRM	10	81	3.2e-22	SMART
RRM	98	171	2.76e-26	SMART
RRM	206	273	1.19e-16	SMART
low complexity region	343	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106226

SMART Domains

Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846

Domain	Start	End	E-Value	Type
RRM	10	98	7.41e-18	SMART
RRM	115	188	2.76e-26	SMART
RRM	223	290	1.19e-16	SMART
low complexity region	360	383	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106228

SMART Domains

Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846

Domain	Start	End	E-Value	Type
Pfam:RRM_1	11	50	1.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123666

SMART Domains

Protein: ENSMUSP00000116921
Gene: ENSMUSG00000030846

Domain	Start	End	E-Value	Type
RRM	10	81	3.2e-22	SMART
Pfam:RRM_1	99	132	1.3e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133089

Predicted Effect

probably benign
Transcript: ENSMUST00000133444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141079

Predicted Effect

probably benign
Transcript: ENSMUST00000141126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152328

Predicted Effect

probably benign
Transcript: ENSMUST00000165023

SMART Domains

Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846

Domain	Start	End	E-Value	Type
RRM	10	81	3.2e-22	SMART
RRM	98	171	2.76e-26	SMART
RRM	206	273	1.19e-16	SMART
low complexity region	343	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205774

Predicted Effect

probably benign
Transcript: ENSMUST00000205835

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a family of RNA-binding proteins, has three RNA recognition motifs (RRMs), and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. It regulates various activities including translational control, splicing and apoptosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The different isoforms have been show to function differently with respect to post-transcriptional silencing. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial embryonic lethality and reduced postnatal survival, reduced embryonic and postnatal body weight, and male and female sterility. Infertility is owed to a substantial decrease in the survival of primordial germ cells atthe genital ridge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	A	9: 57,258,404	T229I	possibly damaging	Het
Acad11	T	C	9: 104,113,512	S439P	probably benign	Het
Acer2	A	T	4: 86,900,559	N148I	possibly damaging	Het
Adgre1	A	G	17: 57,478,833	I860V	probably benign	Het
Asb2	A	G	12: 103,335,914	I125T	probably benign	Het
Atp13a2	G	T	4: 141,001,949	L614F	probably benign	Het
Car7	A	G	8: 104,548,222	T132A	possibly damaging	Het
Ccdc36	T	C	9: 108,412,503	I173M	possibly damaging	Het
Cfap221	T	C	1: 119,984,752	D135G	probably damaging	Het
Crtc3	A	G	7: 80,589,763	F614L	probably damaging	Het
Csn3	T	G	5: 87,930,133	I166S	possibly damaging	Het
Dna2	T	G	10: 62,957,100	L298R	probably damaging	Het
Ece1	T	C	4: 137,946,301	S387P	probably benign	Het
Fbxo28	C	T	1: 182,341,528	G15D	unknown	Het
Fbxw24	A	T	9: 109,624,958		probably null	Het
Foxd3	T	A	4: 99,656,815	V64E	probably benign	Het
Galnt7	A	C	8: 57,584,214	V47G	probably benign	Het
Gcc2	A	T	10: 58,296,140	L1453F	probably damaging	Het
Gcnt4	G	A	13: 96,946,411	V72I	probably benign	Het
Gm10269	A	C	18: 20,682,953		probably null	Het
Hmcn1	T	G	1: 150,697,522	Q2125H	probably damaging	Het
Llcfc1	T	A	6: 41,684,659	S48T	probably benign	Het
Met	G	T	6: 17,553,397	V1061F	probably damaging	Het
Mthfd2	G	A	6: 83,311,360	H138Y	probably damaging	Het
Mtus1	A	T	8: 40,999,517	D1041E	possibly damaging	Het
Mug2	G	A	6: 122,081,387		probably null	Het
Nos3	C	T	5: 24,380,993	T878I	probably damaging	Het
Olfr1211	A	G	2: 88,929,784	M177T	probably benign	Het
Olfr690	A	T	7: 105,330,005	Y62*	probably null	Het
Pbrm1	T	A	14: 31,061,513	V497D	probably damaging	Het
Plcd1	T	C	9: 119,074,199	E471G	probably damaging	Het
Poc1a	A	G	9: 106,285,027	T84A	probably damaging	Het
Ppm1f	A	G	16: 16,915,236	H209R	probably damaging	Het
Rccd1	T	A	7: 80,317,046	K329N	probably damaging	Het
Serpinb9g	A	T	13: 33,494,882	N245I	possibly damaging	Het
Slc22a26	A	C	19: 7,791,105	F196V	probably damaging	Het
Trpa1	A	T	1: 14,875,969		probably null	Het
Vmn1r15	A	T	6: 57,258,818	K224*	probably null	Het
Wdr72	A	T	9: 74,152,580	D424V	probably damaging	Het
Wt1	A	G	2: 105,169,039	K308E	probably damaging	Het
Zwint	T	C	10: 72,657,124	S193P	probably damaging	Het

Other mutations in Tial1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Tial1	APN	7	128448345	missense	probably damaging	1.00
IGL02623:Tial1	APN	7	128443883	missense	probably benign	0.12
R0798:Tial1	UTSW	7	128443878	missense	probably benign	0.04
R1583:Tial1	UTSW	7	128443910	missense	probably damaging	1.00
R1913:Tial1	UTSW	7	128444659	missense	probably damaging	1.00
R4863:Tial1	UTSW	7	128455028	missense	probably damaging	1.00
R5026:Tial1	UTSW	7	128448396	missense	probably damaging	0.97
R5039:Tial1	UTSW	7	128443968	intron	probably benign
R5629:Tial1	UTSW	7	128444697	missense	probably damaging	0.97
R6697:Tial1	UTSW	7	128444869	missense	possibly damaging	0.94
R8072:Tial1	UTSW	7	128442470	missense	unknown
R8178:Tial1	UTSW	7	128444890	missense	probably benign	0.01
Z1177:Tial1	UTSW	7	128442639	missense	possibly damaging	0.89

Posted On

2015-12-18