Mutagenetix > Incidental Mutation

Incidental Mutation 'R4674:Tia1'

348694

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

041929-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4674 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86381201-86410387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86397382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 118 (F118L)

Ref Sequence

ENSEMBL: ENSMUSP00000118558 (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: F118L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: F118L

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: F129L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: F129L

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

possibly damaging
Transcript: ENSMUST00000095754
AA Change: F129L

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: F129L

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

probably damaging
Transcript: ENSMUST00000113712
AA Change: F129L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: F129L

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: F120L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: F120L

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

noncoding transcript
Transcript: ENSMUST00000136387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126404

Predicted Effect

probably damaging
Transcript: ENSMUST00000130967
AA Change: F118L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: F118L

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

noncoding transcript
Transcript: ENSMUST00000134142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147104

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148728
AA Change: F118L

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337
AA Change: F118L

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

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: ENSMUST00000156762

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205109

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203763

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,860,615 (GRCm39)	I112T	probably benign	Het
Acvr1b	T	C	15: 101,100,939 (GRCm39)	I367T	possibly damaging	Het
Akr1b8	G	A	6: 34,333,359 (GRCm39)		probably null	Het
Ash1l	T	C	3: 88,979,783 (GRCm39)	V2769A	possibly damaging	Het
Asxl3	A	T	18: 22,650,795 (GRCm39)	D928V	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Cald1	AAGAGAGAGAGAGAG	AAGAGAGAGAGAG	6: 34,723,108 (GRCm39)		probably null	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Ccdc82	A	T	9: 13,252,260 (GRCm39)	H184L	probably benign	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Clec1b	C	A	6: 129,377,097 (GRCm39)	L47I	probably damaging	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Crbn	T	A	6: 106,767,932 (GRCm39)	Q173L	possibly damaging	Het
Cspg4	T	C	9: 56,805,489 (GRCm39)	V2100A	probably damaging	Het
Cyp46a1	T	C	12: 108,324,345 (GRCm39)	L374P	probably damaging	Het
Dhx16	T	A	17: 36,196,831 (GRCm39)	V607E	probably damaging	Het
Dido1	A	G	2: 180,329,352 (GRCm39)	S357P	probably damaging	Het
Dnah6	T	A	6: 73,169,405 (GRCm39)	I399F	probably benign	Het
Dock10	T	C	1: 80,584,337 (GRCm39)	E123G	possibly damaging	Het
Dstyk	A	G	1: 132,391,128 (GRCm39)	D843G	probably benign	Het
Efcab12	C	A	6: 115,800,610 (GRCm39)	V138F	probably damaging	Het
Egf	A	G	3: 129,511,689 (GRCm39)	F493L	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Exoc6	T	C	19: 37,597,530 (GRCm39)	F644L	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fam184b	T	A	5: 45,740,230 (GRCm39)	K319*	probably null	Het
Flrt2	T	A	12: 95,747,462 (GRCm39)	L600*	probably null	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gli2	T	C	1: 118,763,759 (GRCm39)	E1464G	probably damaging	Het
Hdac9	A	G	12: 34,423,959 (GRCm39)	V501A	possibly damaging	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Hirip3	G	A	7: 126,463,834 (GRCm39)		probably null	Het
Igsf8	G	A	1: 172,146,479 (GRCm39)	W51*	probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Krt73	T	C	15: 101,710,510 (GRCm39)	N75D	probably benign	Het
Macf1	T	A	4: 123,366,190 (GRCm39)	Y1292F	probably benign	Het
Macroh2a1	A	C	13: 56,230,997 (GRCm39)	C297G	possibly damaging	Het
Mapk14	A	G	17: 28,963,996 (GRCm39)		probably null	Het
Mgat5	T	A	1: 127,318,495 (GRCm39)	V330D	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Naip1	A	T	13: 100,580,682 (GRCm39)	F188L	probably damaging	Het
Ncoa3	T	C	2: 165,901,731 (GRCm39)	S1035P	probably benign	Het
Ndn	T	A	7: 61,998,570 (GRCm39)	W139R	probably damaging	Het
Nes	T	C	3: 87,879,102 (GRCm39)	V198A	possibly damaging	Het
Or4c107	G	T	2: 88,789,216 (GRCm39)	M135I	probably damaging	Het
Or4c35	A	G	2: 89,808,250 (GRCm39)	I43V	possibly damaging	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5b111	T	A	19: 13,291,178 (GRCm39)	H157L	probably benign	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Pde1a	TCC	TC	2: 79,728,525 (GRCm39)		probably benign	Het
Pipox	T	G	11: 77,784,596 (GRCm39)	Q4P	probably benign	Het
Pla2g4c	C	T	7: 13,077,439 (GRCm39)	T327I	probably null	Het
Plppr1	C	T	4: 49,323,384 (GRCm39)	R225W	probably damaging	Het
Pnpla6	T	A	8: 3,571,412 (GRCm39)	V145D	probably damaging	Het
Pnpla7	T	C	2: 24,942,329 (GRCm39)	Y83H	probably damaging	Het
Rif1	T	A	2: 51,996,954 (GRCm39)	L970Q	probably null	Het
Rimklb	C	A	6: 122,433,242 (GRCm39)	E303*	probably null	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rttn	T	A	18: 89,029,135 (GRCm39)		probably null	Het
Sf3b3	G	A	8: 111,571,137 (GRCm39)	R10W	probably damaging	Het
Skint4	G	A	4: 111,975,430 (GRCm39)	C130Y	probably damaging	Het
Snap91	A	G	9: 86,674,070 (GRCm39)	S593P	possibly damaging	Het
Ssb	A	G	2: 69,699,194 (GRCm39)	Q209R	probably benign	Het
Stap1	A	T	5: 86,229,044 (GRCm39)	I71L	probably benign	Het
Syna	C	A	5: 134,587,209 (GRCm39)	R580L	probably damaging	Het
Tacc2	T	A	7: 130,226,591 (GRCm39)	M1111K	possibly damaging	Het
Tanc2	T	C	11: 105,758,306 (GRCm39)	L689P	probably damaging	Het
Tasor2	T	C	13: 3,623,686 (GRCm39)	E1406G	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tdrd5	A	C	1: 156,105,005 (GRCm39)	C463W	probably damaging	Het
Tet1	A	G	10: 62,674,627 (GRCm39)	F1150L	probably damaging	Het
Trav3-1	A	T	14: 52,818,460 (GRCm39)	T45S	possibly damaging	Het
Uaca	A	T	9: 60,761,711 (GRCm39)	Y235F	possibly damaging	Het
Ube4b	T	C	4: 149,415,827 (GRCm39)	N44S	possibly damaging	Het
Vmn2r93	T	A	17: 18,525,255 (GRCm39)	H304Q	probably benign	Het
Wdr18	A	G	10: 79,801,069 (GRCm39)	I161V	probably benign	Het
Zfp112	A	G	7: 23,826,399 (GRCm39)	H789R	probably damaging	Het
Zfp873	A	G	10: 81,895,814 (GRCm39)	T182A	possibly damaging	Het
Zscan2	T	A	7: 80,525,150 (GRCm39)	S290R	probably damaging	Het
Zup1	A	T	10: 33,824,980 (GRCm39)	D167E	possibly damaging	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
R0322:Tia1	UTSW	6	86,397,369 (GRCm39)	missense	probably damaging	1.00
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
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'- GCTTCTGGTAGCTATCAGTCC -3'
(R):5'- GTACTTGCTTTCAGACTCTTGGATG -3'

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

Posted On

2015-10-08