Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Tia1'

553262

Institutional Source

Beutler Lab

Gene Symbol

Tia1

Ensembl Gene

ENSMUSG00000071337

Gene Name

cytotoxic granule-associated RNA binding protein 1

Synonyms

2310050N03Rik, mTIA-1

Accession Numbers

Essential gene?

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

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

86381201-86410387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86404670 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 302 (Y302H)

Ref Sequence

ENSEMBL: ENSMUSP00000093425 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095752] [ENSMUST00000095753] [ENSMUST00000095754] [ENSMUST00000113712] [ENSMUST00000113713] [ENSMUST00000123267] [ENSMUST00000130967] [ENSMUST00000148728] [ENSMUST00000154438] [ENSMUST00000204137]

AlphaFold

P52912

PDB Structure

Solution structure of the second RNA recognition motif (RRM) of TIA-1 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095752
AA Change: Y291H

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: Y291H

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

possibly damaging
Transcript: ENSMUST00000095753
AA Change: Y302H

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: Y302H

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: Y302H

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

SMART Domains

Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: Y302H

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 benign
Transcript: ENSMUST00000113712

SMART Domains

Protein: ENSMUSP00000138652
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: ENSMUST00000113713
AA Change: Y293H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: Y293H

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

probably benign
Transcript: ENSMUST00000123267

SMART Domains

Protein: ENSMUSP00000145407
Gene: ENSMUSG00000071337

Domain	Start	End	E-Value	Type
RRM	12	79	1e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000130967

SMART Domains

Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337

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 benign
Transcript: ENSMUST00000148728

SMART Domains

Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337

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

probably benign
Transcript: ENSMUST00000204137

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Abcd4	A	G	12: 84,653,072 (GRCm39)	C377R	probably benign	Het
Adam23	C	A	1: 63,584,736 (GRCm39)	D381E	probably damaging	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 106,928,208 (GRCm39)	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fancl	A	G	11: 26,353,358 (GRCm39)	M85V	probably benign	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Thbd	G	T	2: 148,248,461 (GRCm39)	T469K	probably benign	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	probably 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
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
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'- CACTCGTTCTAGCACTGAGC -3'
(R):5'- TATCACCACACTTAACGCTGAGG -3'

Sequencing Primer
(F):5'- ACTGAGCTGTGTTCCCCAG -3'
(R):5'- AACGCTGAGGTCACATGGTTTAC -3'

Posted On

2019-05-15