Mutagenetix > Incidental Mutation

Incidental Mutation 'R0798:Tial1'

76488

Institutional Source

Beutler Lab

Gene Symbol

Tial1

Ensembl Gene

ENSMUSG00000030846

Gene Name

Tia1 cytotoxic granule-associated RNA binding protein-like 1

Synonyms

TIAR, mTIAR, 5330433G13Rik

MMRRC Submission

038978-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R0798 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128041501-128063441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128045602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 327 (M327I)

Ref Sequence

ENSEMBL: ENSMUSP00000101833 (fasta)

Gene Model

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

AlphaFold

P70318

Predicted Effect

probably benign
Transcript: ENSMUST00000033135
AA Change: M310I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: M310I

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
AA Change: M327I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: M327I

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

unknown
Transcript: ENSMUST00000106228
AA Change: M271I

SMART Domains

Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: M271I

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: ENSMUST00000136782

Predicted Effect

probably benign
Transcript: ENSMUST00000165023
AA Change: M310I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: M310I

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: ENSMUST00000141126
AA Change: M179I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141079

Predicted Effect

probably benign
Transcript: ENSMUST00000205835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152328

Predicted Effect

probably benign
Transcript: ENSMUST00000205278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205774

Meta Mutation Damage Score

0.0595

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (30/30)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4930579C12Rik	T	A	9: 89,034,880 (GRCm39)		noncoding transcript	Het
Baz2a	T	A	10: 127,962,192 (GRCm39)		probably benign	Het
Bcar3	T	C	3: 122,318,948 (GRCm39)	V695A	probably benign	Het
C130074G19Rik	G	A	1: 184,614,873 (GRCm39)		probably benign	Het
Cmas	T	C	6: 142,710,382 (GRCm39)	V167A	probably damaging	Het
Crppa	G	A	12: 36,571,998 (GRCm39)	R302H	probably benign	Het
Cyp3a25	T	C	5: 145,928,343 (GRCm39)	E234G	probably damaging	Het
Gopc	C	T	10: 52,234,907 (GRCm39)	G79S	probably damaging	Het
Herc2	T	A	7: 55,785,431 (GRCm39)		probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnq5	A	G	1: 22,031,399 (GRCm39)		probably null	Het
Lpp	G	T	16: 24,790,622 (GRCm39)	G29*	probably null	Het
Ly6g6e	T	C	17: 35,297,017 (GRCm39)	F86S	probably benign	Het
Myo5c	T	C	9: 75,165,266 (GRCm39)	F358S	probably damaging	Het
Nlgn1	A	G	3: 25,488,410 (GRCm39)	Y613H	probably benign	Het
Or4k38	T	C	2: 111,165,689 (GRCm39)	I245V	probably benign	Het
Or7e178	A	T	9: 20,225,495 (GRCm39)	Y232*	probably null	Het
Plekhn1	T	A	4: 156,312,720 (GRCm39)	D46V	probably damaging	Het
Ptp4a1	A	T	1: 30,984,005 (GRCm39)		probably benign	Het
Rab23	A	T	1: 33,773,908 (GRCm39)	I123F	probably damaging	Het
Samd4b	G	A	7: 28,101,048 (GRCm39)		probably benign	Het
Shisa4	G	A	1: 135,300,886 (GRCm39)		probably benign	Het
Slc39a11	C	T	11: 113,414,330 (GRCm39)	A90T	probably benign	Het
Tas1r2	T	C	4: 139,397,024 (GRCm39)	Y788H	probably damaging	Het
Tasor	T	A	14: 27,198,593 (GRCm39)	F1308L	probably damaging	Het
Ubr2	C	T	17: 47,280,102 (GRCm39)		probably benign	Het
Utp4	T	C	8: 107,648,858 (GRCm39)	S630P	probably benign	Het
Vmn1r212	T	C	13: 23,067,868 (GRCm39)	N155S	probably damaging	Het
Zmym6	C	T	4: 126,997,316 (GRCm39)	P312S	probably benign	Het

Other mutations in Tial1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Tial1	APN	7	128,050,069 (GRCm39)	missense	probably damaging	1.00
IGL02623:Tial1	APN	7	128,045,607 (GRCm39)	missense	probably benign	0.12
IGL02936:Tial1	APN	7	128,044,387 (GRCm39)	splice site	probably benign
Neoblimp	UTSW	7	128,050,415 (GRCm39)	missense	possibly damaging	0.94
R1583:Tial1	UTSW	7	128,045,634 (GRCm39)	missense	probably damaging	1.00
R1913:Tial1	UTSW	7	128,046,383 (GRCm39)	missense	probably damaging	1.00
R4863:Tial1	UTSW	7	128,056,752 (GRCm39)	missense	probably damaging	1.00
R5026:Tial1	UTSW	7	128,050,120 (GRCm39)	missense	probably damaging	0.97
R5039:Tial1	UTSW	7	128,045,692 (GRCm39)	intron	probably benign
R5629:Tial1	UTSW	7	128,046,421 (GRCm39)	missense	probably damaging	0.97
R6697:Tial1	UTSW	7	128,046,593 (GRCm39)	missense	possibly damaging	0.94
R8072:Tial1	UTSW	7	128,044,194 (GRCm39)	missense	unknown
R8178:Tial1	UTSW	7	128,046,614 (GRCm39)	missense	probably benign	0.01
R8937:Tial1	UTSW	7	128,056,715 (GRCm39)	missense	probably damaging	1.00
R9162:Tial1	UTSW	7	128,050,415 (GRCm39)	missense	possibly damaging	0.94
R9385:Tial1	UTSW	7	128,044,209 (GRCm39)	missense	unknown
Z1177:Tial1	UTSW	7	128,044,363 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CCAAGAGGTCACATTGCATTCCCC -3'
(R):5'- TGAACGGCACTACAATCGAAGGAC -3'

Sequencing Primer
(F):5'- TCTACAGCCCAAATGCCTTAATG -3'
(R):5'- AGTCCTATTCACAGAAGGGTGC -3'

Posted On

2013-10-16