Mutagenetix > Incidental Mutation

Incidental Mutation 'R1583:Tial1'

177254

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

039620-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.814) question?

Stock #

R1583 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128041501-128063441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128045634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 317 (Y317H)

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 damaging
Transcript: ENSMUST00000033135
AA Change: Y300H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: Y300H

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 damaging
Transcript: ENSMUST00000106226
AA Change: Y317H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: Y317H

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: Y261H

SMART Domains

Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: Y261H

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 damaging
Transcript: ENSMUST00000165023
AA Change: Y300H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: Y300H

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 damaging
Transcript: ENSMUST00000141126
AA Change: Y169H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205774

Predicted Effect

probably benign
Transcript: ENSMUST00000205835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152328

Predicted Effect

probably benign
Transcript: ENSMUST00000205278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141079

Meta Mutation Damage Score

0.3177

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 88.8%

Validation Efficiency

99% (79/80)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 77,030,528 (GRCm39)	S691P	probably benign	Het
Adgrb3	T	C	1: 25,265,912 (GRCm39)		probably null	Het
Ankar	A	G	1: 72,718,714 (GRCm39)		probably benign	Het
Aplf	A	T	6: 87,623,015 (GRCm39)	Y355N	probably damaging	Het
Bms1	A	G	6: 118,366,350 (GRCm39)		probably benign	Het
Catsperb	T	C	12: 101,429,373 (GRCm39)	I182T	probably damaging	Het
Cd300ld2	T	C	11: 114,904,603 (GRCm39)	D88G	probably benign	Het
Cebpz	T	C	17: 79,242,181 (GRCm39)	N491S	probably damaging	Het
Crybg2	T	C	4: 133,808,770 (GRCm39)	S1415P	probably damaging	Het
Ddc	A	G	11: 11,779,131 (GRCm39)	V331A	probably benign	Het
Decr2	T	C	17: 26,301,998 (GRCm39)	E244G	probably damaging	Het
Dhrs11	A	G	11: 84,713,943 (GRCm39)	M136T	probably damaging	Het
Eapp	G	A	12: 54,732,733 (GRCm39)	Q126*	probably null	Het
Fam111a	T	A	19: 12,565,142 (GRCm39)	V297D	probably damaging	Het
Fbxo10	A	C	4: 45,062,118 (GRCm39)	L136R	probably damaging	Het
Fbxo30	T	A	10: 11,167,118 (GRCm39)	H613Q	possibly damaging	Het
Frk	A	T	10: 34,467,806 (GRCm39)		probably null	Het
Gm10392	T	A	11: 77,408,307 (GRCm39)	D104V	probably benign	Het
Gpn1	A	G	5: 31,654,682 (GRCm39)	E78G	possibly damaging	Het
Hhip	T	C	8: 80,716,905 (GRCm39)	Y506C	probably damaging	Het
Hid1	G	A	11: 115,247,576 (GRCm39)	S274L	possibly damaging	Het
Immp2l	G	T	12: 41,750,548 (GRCm39)		probably benign	Het
Klhl21	T	C	4: 152,094,081 (GRCm39)	F228L	possibly damaging	Het
Lamc1	T	A	1: 153,119,224 (GRCm39)		probably null	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lratd1	G	A	12: 14,200,409 (GRCm39)	A106V	probably benign	Het
Magi2	T	C	5: 19,432,330 (GRCm39)	V15A	probably benign	Het
Map2k7	T	C	8: 4,293,621 (GRCm39)		probably null	Het
Mga	T	A	2: 119,794,441 (GRCm39)	H2590Q	possibly damaging	Het
Mlxip	T	C	5: 123,588,286 (GRCm39)	I238T	possibly damaging	Het
Mylk	T	A	16: 34,695,956 (GRCm39)	D230E	probably benign	Het
Nacad	T	A	11: 6,551,185 (GRCm39)	T669S	probably benign	Het
Nin	C	T	12: 70,078,512 (GRCm39)	M1691I	probably benign	Het
Nlrp4d	C	T	7: 10,116,164 (GRCm39)	A203T	probably damaging	Het
Or10aa1	T	C	1: 173,870,046 (GRCm39)	F177L	probably benign	Het
Or10q12	A	T	19: 13,745,874 (GRCm39)	H56L	probably benign	Het
Or4c106	T	G	2: 88,682,606 (GRCm39)	F104C	probably damaging	Het
Or4k5	C	A	14: 50,386,231 (GRCm39)	M33I	probably benign	Het
Or4k51	A	T	2: 111,584,770 (GRCm39)	M59L	probably damaging	Het
Or5ac19	A	G	16: 59,089,394 (GRCm39)	V212A	probably benign	Het
Osbp	C	A	19: 11,955,193 (GRCm39)	Q282K	probably benign	Het
Osbpl2	A	G	2: 179,790,256 (GRCm39)	S177G	probably damaging	Het
Pax1	A	G	2: 147,208,175 (GRCm39)	H261R	possibly damaging	Het
Pcif1	A	T	2: 164,728,647 (GRCm39)	L274F	probably damaging	Het
Pkhd1	A	G	1: 20,188,049 (GRCm39)	S3420P	probably benign	Het
Prss3	A	C	6: 41,354,561 (GRCm39)		probably benign	Het
Ptk2b	T	C	14: 66,400,563 (GRCm39)	T751A	possibly damaging	Het
Pus10	T	C	11: 23,623,239 (GRCm39)	V126A	probably damaging	Het
Rai14	A	C	15: 10,588,002 (GRCm39)	D258E	probably damaging	Het
Rbp3	T	C	14: 33,676,481 (GRCm39)	V143A	possibly damaging	Het
Sarm1	G	A	11: 78,374,153 (GRCm39)	Q625*	probably null	Het
Scgb1b21	T	G	7: 33,227,092 (GRCm39)		noncoding transcript	Het
Scrn1	A	T	6: 54,497,754 (GRCm39)	V279E	probably damaging	Het
Sipa1l2	T	C	8: 126,148,634 (GRCm39)	T1670A	probably damaging	Het
Slc9a4	A	T	1: 40,640,122 (GRCm39)	I305F	probably benign	Het
Smarcc1	A	G	9: 110,042,685 (GRCm39)	T918A	probably damaging	Het
Tas2r109	A	T	6: 132,957,389 (GRCm39)	H180Q	probably benign	Het
Tas2r121	G	A	6: 132,677,193 (GRCm39)	R260*	probably null	Het
Tenm3	T	C	8: 48,732,109 (GRCm39)	D1249G	probably benign	Het
Tgtp1	C	G	11: 48,878,357 (GRCm39)	G116A	probably damaging	Het
Top6bl	T	A	19: 4,702,199 (GRCm39)	K282N	probably damaging	Het
Trim66	A	T	7: 109,054,287 (GRCm39)	W1308R	probably damaging	Het
Ulk2	T	G	11: 61,674,371 (GRCm39)	K878N	possibly damaging	Het
Zfp41	T	A	15: 75,490,140 (GRCm39)	S31T	possibly damaging	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
R0798:Tial1	UTSW	7	128,045,602 (GRCm39)	missense	probably benign	0.04
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'- GCATCTTTTGCCAGAAGCGCATC -3'
(R):5'- TGAACGGCACTACAATCGAAGGAC -3'

Sequencing Primer
(F):5'- GAAGCGCATCTGTTTCTACAATG -3'
(R):5'- ACATACCTACATAGGAGCTTTGG -3'

Posted On

2014-04-24