Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Tial1'

634486

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

067603-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

R8178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128041501-128063441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128046614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 209 (R209G)

Ref Sequence

ENSEMBL: ENSMUSP00000101833 (fasta)

Gene Model

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

AlphaFold

P70318

Predicted Effect

probably benign
Transcript: ENSMUST00000033135
AA Change: R192G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033135
Gene: ENSMUSG00000030846
AA Change: R192G

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: R209G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101833
Gene: ENSMUSG00000030846
AA Change: R209G

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
AA Change: R153G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101835
Gene: ENSMUSG00000030846
AA Change: R153G

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
AA Change: R6G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000141126
AA Change: R61G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000165023
AA Change: R192G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126458
Gene: ENSMUSG00000030846
AA Change: R192G

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

probably benign
Transcript: ENSMUST00000205835

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,699 (GRCm39)	I276V		Het
Acsm5	C	A	7: 119,141,618 (GRCm39)	H538N	probably damaging	Het
Adamts17	A	G	7: 66,499,464 (GRCm39)	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,761,675 (GRCm39)	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,225,170 (GRCm39)	L877Q	probably damaging	Het
Aox3	A	T	1: 58,189,481 (GRCm39)	D394V	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	A	G	1: 34,761,983 (GRCm39)	E413G	unknown	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Arsk	G	T	13: 76,239,861 (GRCm39)	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,733,876 (GRCm39)	V406A	probably damaging	Het
Cbr3	C	A	16: 93,480,393 (GRCm39)	Q61K	probably benign	Het
Ccdc73	C	T	2: 104,821,557 (GRCm39)	S502L	probably benign	Het
Cdhr3	A	T	12: 33,098,931 (GRCm39)		probably null	Het
Cep170b	T	A	12: 112,705,719 (GRCm39)	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,244,836 (GRCm39)	S1159T		Het
Cit	C	T	5: 116,107,131 (GRCm39)	R1088W	probably damaging	Het
Col16a1	A	T	4: 129,947,270 (GRCm39)	H205L	unknown	Het
Cpt1c	T	G	7: 44,609,077 (GRCm39)	H748P	probably damaging	Het
Cstdc4	T	G	16: 36,006,772 (GRCm39)	Y35*	probably null	Het
Dcaf8	A	T	1: 172,013,886 (GRCm39)	D359V	probably benign	Het
Dcstamp	A	G	15: 39,618,422 (GRCm39)	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,832,790 (GRCm39)	K898R	probably benign	Het
Dnah6	T	A	6: 73,037,208 (GRCm39)	T3345S	probably benign	Het
Dpp6	A	T	5: 27,803,815 (GRCm39)	N254Y	probably damaging	Het
F2	A	T	2: 91,460,618 (GRCm39)		probably null	Het
Fam216b	G	C	14: 78,322,504 (GRCm39)	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,794,967 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,547,026 (GRCm39)	M59K	probably damaging	Het
Glud1	G	A	14: 34,065,664 (GRCm39)	G554D	probably damaging	Het
Gys2	C	T	6: 142,402,138 (GRCm39)	G234R	probably damaging	Het
Ifngr1	A	G	10: 19,485,241 (GRCm39)	I413M	probably benign	Het
Inpp5a	C	T	7: 139,118,153 (GRCm39)	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Lingo3	T	A	10: 80,670,464 (GRCm39)	T489S	possibly damaging	Het
Lrpprc	A	G	17: 85,079,575 (GRCm39)	L227P	probably damaging	Het
Morn1	A	G	4: 155,213,160 (GRCm39)	Q356R	probably benign	Het
Naxd	A	C	8: 11,561,987 (GRCm39)	K275Q	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or1ad8	T	A	11: 50,898,437 (GRCm39)	C213S	probably damaging	Het
Or5aq6	C	T	2: 86,923,220 (GRCm39)	V174M	possibly damaging	Het
Or7e175	T	C	9: 20,048,571 (GRCm39)	V53A	possibly damaging	Het
Pdxk	C	T	10: 78,289,338 (GRCm39)	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pes1	T	C	11: 3,927,718 (GRCm39)	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,618,657 (GRCm39)	F3I	unknown	Het
Pira13	T	C	7: 3,824,260 (GRCm39)	K631R	unknown	Het
Plce1	T	A	19: 38,761,423 (GRCm39)	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,246,505 (GRCm39)	S345P	probably benign	Het
Pom121l12	C	A	11: 14,550,011 (GRCm39)	P239H	probably damaging	Het
Prdm2	A	G	4: 142,859,018 (GRCm39)	I1424T	probably benign	Het
Prmt6	A	G	3: 110,158,140 (GRCm39)	Y50H	probably damaging	Het
Rbm39	T	C	2: 155,996,195 (GRCm39)	I397V	probably benign	Het
Rnf157	A	G	11: 116,238,307 (GRCm39)	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,053,980 (GRCm39)	E6G	possibly damaging	Het
Shank1	T	C	7: 43,962,748 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,105,505 (GRCm39)	I378V	probably benign	Het
Smn1	T	A	13: 100,267,303 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,874,975 (GRCm39)	F632S	possibly damaging	Het
Sun5	T	C	2: 153,698,131 (GRCm39)		probably null	Het
Trhde	T	C	10: 114,244,598 (GRCm39)	I963V	possibly damaging	Het
Tssc4	G	T	7: 142,623,932 (GRCm39)	R80L	possibly damaging	Het
Ttn	A	T	2: 76,642,852 (GRCm39)	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,581,005 (GRCm39)		probably null	Het
Vmn1r218	A	T	13: 23,321,472 (GRCm39)	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,386,988 (GRCm39)	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398 (GRCm39)	S196G	probably benign	Het
Zfp788	T	A	7: 41,298,335 (GRCm39)	C324S	probably damaging	Het
Zfp976	T	C	7: 42,262,959 (GRCm39)	T294A	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
R0798:Tial1	UTSW	7	128,045,602 (GRCm39)	missense	probably benign	0.04
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
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'- AAACGAATAGCCCTTCTCTGG -3'
(R):5'- AAGTGTTTCCCTCCCACTGG -3'

Sequencing Primer
(F):5'- TAGCCCTTCTCTGGAAAAACTCG -3'
(R):5'- GTCAGCCTAGTCCACATAGGTC -3'

Posted On

2020-07-13