Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Tial1'

374657

Institutional Source

Beutler Lab

Gene Symbol

Tial1

Ensembl Gene

ENSMUSG00000030846

Gene Name

Tia1 cytotoxic granule-associated RNA binding protein-like 1

Synonyms

mTIAR, 5330433G13Rik, TIAR

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.735) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128439777-128461717 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 128455028 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1 (V1I)

Ref Sequence

ENSEMBL: ENSMUSP00000145908 (fasta)

Gene Model

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

AlphaFold

P70318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033135
AA Change: V13I

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: V13I

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: V13I

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: V13I

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 damaging
Transcript: ENSMUST00000123666
AA Change: V13I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116921
Gene: ENSMUSG00000030846
AA Change: V13I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133444
AA Change: R205H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141079

Predicted Effect

probably benign
Transcript: ENSMUST00000141126

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165023
AA Change: V13I

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: V13I

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: ENSMUST00000205278
AA Change: V1I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205835
AA Change: V13I

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

Meta Mutation Damage Score

0.1113

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512		probably null	Het
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abcc12	T	A	8: 86,538,376	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230		probably benign	Het
Dok3	G	A	13: 55,523,457	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945		probably benign	Het
Fnip1	G	A	11: 54,515,556	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989		probably benign	Het
Gtf3c2	A	G	5: 31,159,233		probably benign	Het
H2-M10.3	T	C	17: 36,366,636	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678		probably benign	Het
Lama3	C	T	18: 12,539,793	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871		probably benign	Het
Lrrc14	T	A	15: 76,713,362		probably null	Het
Map4k5	G	A	12: 69,818,438	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281		probably null	Het
Mical3	T	C	6: 121,033,787	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596		probably null	Het
Nxpe3	A	T	16: 55,849,633	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802		probably null	Het
Pou2f2	A	G	7: 25,097,108		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702		probably benign	Het
Ppp1r42	T	C	1: 10,003,386		probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139	M438V	probably benign	Het
Recql	T	G	6: 142,359,006		probably benign	Het
Rftn2	A	G	1: 55,172,039	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790	L382*	probably null	Het
Stard9	T	A	2: 120,700,860	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231	K242N	probably benign	Het
Tle2	G	A	10: 81,588,891	R649H	possibly damaging	Het
Tmem178	A	G	17: 80,944,945	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882		probably benign	Het
Yipf4	A	G	17: 74,494,092	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp426	T	C	9: 20,470,038	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772	Y430S	probably damaging	Het

Other mutations in Tial1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02386:Tial1	APN	7	128,448,345 (GRCm38)	missense	probably damaging	1.00
IGL02623:Tial1	APN	7	128,443,883 (GRCm38)	missense	probably benign	0.12
IGL02936:Tial1	APN	7	128,442,663 (GRCm38)	splice site	probably benign
Neoblimp	UTSW	7	128,448,691 (GRCm38)	missense	possibly damaging	0.94
R0798:Tial1	UTSW	7	128,443,878 (GRCm38)	missense	probably benign	0.04
R1583:Tial1	UTSW	7	128,443,910 (GRCm38)	missense	probably damaging	1.00
R1913:Tial1	UTSW	7	128,444,659 (GRCm38)	missense	probably damaging	1.00
R5026:Tial1	UTSW	7	128,448,396 (GRCm38)	missense	probably damaging	0.97
R5039:Tial1	UTSW	7	128,443,968 (GRCm38)	intron	probably benign
R5629:Tial1	UTSW	7	128,444,697 (GRCm38)	missense	probably damaging	0.97
R6697:Tial1	UTSW	7	128,444,869 (GRCm38)	missense	possibly damaging	0.94
R8072:Tial1	UTSW	7	128,442,470 (GRCm38)	missense	unknown
R8178:Tial1	UTSW	7	128,444,890 (GRCm38)	missense	probably benign	0.01
R8937:Tial1	UTSW	7	128,454,991 (GRCm38)	missense	probably damaging	1.00
R9162:Tial1	UTSW	7	128,448,691 (GRCm38)	missense	possibly damaging	0.94
R9385:Tial1	UTSW	7	128,442,485 (GRCm38)	missense	unknown
Z1177:Tial1	UTSW	7	128,442,639 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TCAGTGCAGTCTTGGCCTTC -3'
(R):5'- GCGTTAAGATGAGCCCACTAAC -3'

Sequencing Primer
(F):5'- GATTACTAGCCAAATCAACGGATTAC -3'
(R):5'- CAACGACTGTCTAGTATTAGTTCATC -3'

Posted On

2016-03-17