Mutagenetix > Incidental Mutation

Incidental Mutation 'R0322:Tia1'

25610

Institutional Source

Beutler Lab

Gene Symbol

Tia1

Ensembl Gene

ENSMUSG00000071337

Gene Name

cytotoxic granule-associated RNA binding protein 1

Synonyms

2310050N03Rik, mTIA-1

MMRRC Submission

038532-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.181) question?

Stock #

R0322 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

86381201-86410387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86397369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 114 (A114V)

Ref Sequence

ENSEMBL: ENSMUSP00000144857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095752] [ENSMUST00000095753] [ENSMUST00000095754] [ENSMUST00000113712] [ENSMUST00000113713] [ENSMUST00000130967] [ENSMUST00000148728] [ENSMUST00000154438]

AlphaFold

P52912

Predicted Effect

probably damaging
Transcript: ENSMUST00000095752
AA Change: A114V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: A114V

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
RRM	96	169	5.15e-26	SMART
RRM	204	271	2.25e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095753
AA Change: A125V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: A125V

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
low complexity region	82	104	N/A	INTRINSIC
RRM	107	180	5.15e-26	SMART
RRM	215	282	2.25e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095754
AA Change: A125V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: A125V

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
low complexity region	82	104	N/A	INTRINSIC
RRM	107	180	5.15e-26	SMART
RRM	215	282	2.25e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113708

SMART Domains

Protein: ENSMUSP00000109338
Gene: ENSMUSG00000071337

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
low complexity region	82	104	N/A	INTRINSIC
RRM	107	180	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113712
AA Change: A125V

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: A125V

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
low complexity region	82	104	N/A	INTRINSIC
RRM	107	180	5.15e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113713
AA Change: A116V

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: A116V

Domain	Start	End	E-Value	Type
RRM	8	81	1.62e-23	SMART
RRM	98	171	5.15e-26	SMART
RRM	206	273	2.25e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123002

Predicted Effect

probably damaging
Transcript: ENSMUST00000130967
AA Change: A114V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: A114V

Domain	Start	End	E-Value	Type
RRM	8	79	1.74e-23	SMART
RRM	96	169	5.15e-26	SMART
RRM	204	258	1.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000148728
AA Change: A114V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337
AA Change: A114V

Domain	Start	End	E-Value	Type
RRM	8	79	7.3e-26	SMART
Pfam:RRM_1	97	131	1.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134142

Predicted Effect

probably benign
Transcript: ENSMUST00000154438

SMART Domains

Protein: ENSMUSP00000145218
Gene: ENSMUSG00000071337

Domain	Start	End	E-Value	Type
RRM	8	79	7.3e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203763

Meta Mutation Damage Score

0.3521

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.8%
20x: 84.3%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms of this gene product has been described in the literature. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit reduced postnatal survival and functional abnormalities in the immune system with no gross abnormalities in any of the major organs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,888,768 (GRCm39)	S275T	possibly damaging	Het
Adam34	G	T	8: 44,104,958 (GRCm39)	T229N	probably benign	Het
Adgrb3	C	A	1: 25,260,829 (GRCm39)		probably benign	Het
Ankhd1	T	A	18: 36,791,061 (GRCm39)	Y2478*	probably null	Het
Arl9	A	G	5: 77,155,037 (GRCm39)		probably benign	Het
Bub1b	G	A	2: 118,470,099 (GRCm39)		probably benign	Het
Chl1	A	T	6: 103,678,844 (GRCm39)		probably benign	Het
Cobl	T	A	11: 12,217,072 (GRCm39)	E465V	probably damaging	Het
Cobll1	A	T	2: 64,932,442 (GRCm39)	M520K	possibly damaging	Het
Dll3	A	G	7: 27,995,793 (GRCm39)	V336A	possibly damaging	Het
Dnmbp	T	C	19: 43,843,285 (GRCm39)	H1193R	probably damaging	Het
Fbxo43	T	C	15: 36,152,338 (GRCm39)		probably benign	Het
Gart	G	A	16: 91,419,925 (GRCm39)		probably benign	Het
Gjc3	A	T	5: 137,955,760 (GRCm39)	M175K	possibly damaging	Het
Gpc5	T	A	14: 115,636,563 (GRCm39)	N415K	probably benign	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Il7r	A	T	15: 9,510,301 (GRCm39)	F251I	probably benign	Het
Insc	A	G	7: 114,391,500 (GRCm39)	E141G	probably damaging	Het
Itm2c	C	T	1: 85,834,751 (GRCm39)	T160M	probably damaging	Het
Mboat1	T	C	13: 30,416,063 (GRCm39)		probably benign	Het
Mdm2	G	T	10: 117,538,109 (GRCm39)	H96Q	possibly damaging	Het
Mettl13	A	G	1: 162,371,745 (GRCm39)		probably benign	Het
Mfsd4b3-ps	T	C	10: 39,823,526 (GRCm39)	N245D	probably damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Mymk	A	T	2: 26,957,418 (GRCm39)	L66Q	probably damaging	Het
Myo18a	T	C	11: 77,720,626 (GRCm39)	S767P	probably damaging	Het
Ndufa8	T	C	2: 35,926,634 (GRCm39)	D134G	probably benign	Het
Noxa1	A	G	2: 24,982,566 (GRCm39)	F83S	probably damaging	Het
Npc1l1	T	A	11: 6,179,042 (GRCm39)	I123L	probably benign	Het
Ogdhl	A	G	14: 32,059,534 (GRCm39)	T394A	probably benign	Het
Or4s2b	T	C	2: 88,509,011 (GRCm39)	S264P	probably damaging	Het
Or5ae1	A	G	7: 84,565,521 (GRCm39)	Y178C	probably damaging	Het
Pcdh20	T	C	14: 88,706,383 (GRCm39)	T306A	probably benign	Het
Pcid2	G	A	8: 13,140,775 (GRCm39)		probably benign	Het
Phyhip	G	A	14: 70,700,836 (GRCm39)	V108M	possibly damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Psmb4	A	G	3: 94,793,402 (GRCm39)	Y160H	probably benign	Het
Riox2	A	T	16: 59,309,752 (GRCm39)	K369*	probably null	Het
Rnf26rt	T	C	6: 76,473,401 (GRCm39)	Y405C	probably benign	Het
Sh3tc1	G	A	5: 35,863,905 (GRCm39)	P761S	possibly damaging	Het
Slc6a3	T	A	13: 73,709,045 (GRCm39)	V323D	possibly damaging	Het
Smg7	A	G	1: 152,725,624 (GRCm39)		probably null	Het
Srrt	G	A	5: 137,294,870 (GRCm39)	R370C	probably damaging	Het
Stc1	T	C	14: 69,266,858 (GRCm39)	V7A	probably benign	Het
Svep1	G	T	4: 58,057,996 (GRCm39)		probably benign	Het
Tbpl2	A	G	2: 23,984,991 (GRCm39)	V51A	probably benign	Het
Tecr	A	G	8: 84,298,872 (GRCm39)	Y248H	probably damaging	Het
Tenm3	A	G	8: 48,689,947 (GRCm39)		probably benign	Het
Tmprss11f	A	T	5: 86,739,275 (GRCm39)	M2K	probably benign	Het
Tnfsf8	T	C	4: 63,752,403 (GRCm39)	T221A	probably damaging	Het
Tubgcp5	G	A	7: 55,464,726 (GRCm39)	G536S	probably damaging	Het
Tyr	A	T	7: 87,142,125 (GRCm39)	I145N	probably benign	Het
Ubr4	T	A	4: 139,149,729 (GRCm39)	V1809E	probably damaging	Het
Vmn2r65	A	T	7: 84,595,756 (GRCm39)	N309K	probably benign	Het

Other mutations in Tia1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02643:Tia1	APN	6	86,393,372 (GRCm39)	missense	probably benign	0.16
R1118:Tia1	UTSW	6	86,396,091 (GRCm39)	missense	probably benign	0.00
R1451:Tia1	UTSW	6	86,407,321 (GRCm39)	missense	probably benign	0.00
R1631:Tia1	UTSW	6	86,397,330 (GRCm39)	missense	probably damaging	1.00
R2275:Tia1	UTSW	6	86,404,659 (GRCm39)	missense	probably benign	0.00
R2509:Tia1	UTSW	6	86,401,312 (GRCm39)	splice site	probably null
R3952:Tia1	UTSW	6	86,393,319 (GRCm39)	missense	probably damaging	1.00
R4596:Tia1	UTSW	6	86,397,389 (GRCm39)	missense	probably benign	0.34
R4674:Tia1	UTSW	6	86,397,382 (GRCm39)	missense	probably damaging	0.99
R4919:Tia1	UTSW	6	86,401,305 (GRCm39)	unclassified	probably benign
R6339:Tia1	UTSW	6	86,403,638 (GRCm39)	missense	probably damaging	1.00
R6455:Tia1	UTSW	6	86,397,360 (GRCm39)	missense	probably damaging	1.00
R7139:Tia1	UTSW	6	86,404,670 (GRCm39)	missense	possibly damaging	0.95
R7804:Tia1	UTSW	6	86,401,364 (GRCm39)	missense	probably benign	0.02
R7879:Tia1	UTSW	6	86,401,347 (GRCm39)	missense	probably damaging	0.97
R8018:Tia1	UTSW	6	86,402,034 (GRCm39)	missense	probably benign	0.06
R8153:Tia1	UTSW	6	86,397,314 (GRCm39)	missense	probably damaging	0.99
R8172:Tia1	UTSW	6	86,404,682 (GRCm39)	missense	probably benign	0.38
R8268:Tia1	UTSW	6	86,404,996 (GRCm39)	intron	probably benign
R8275:Tia1	UTSW	6	86,404,718 (GRCm39)	nonsense	probably null
R8409:Tia1	UTSW	6	86,402,452 (GRCm39)	missense	possibly damaging	0.87
R8430:Tia1	UTSW	6	86,395,906 (GRCm39)	missense	probably benign	0.30
R8550:Tia1	UTSW	6	86,402,684 (GRCm39)	missense	probably benign	0.01
R8678:Tia1	UTSW	6	86,402,685 (GRCm39)	missense	probably benign	0.01
R9578:Tia1	UTSW	6	86,407,347 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GGGCAACCAAAACTGTTGGCTTT -3'
(R):5'- ACTGTACTTGCTTTCAGACTCTTGGATG -3'

Sequencing Primer
(F):5'- TAGACAGTGACTACCAGCTTCTG -3'
(R):5'- TCAGACTCTTGGATGATCTCTAAAC -3'

Posted On

2013-04-16