Mutagenetix > Incidental Mutation

Incidental Mutation 'R1631:Tia1'

172789

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

039668-MU

Accession Numbers

Essential gene?

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

Stock #

R1631 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86381201-86410387 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86397330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 101 (D101G)

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: D101G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093424
Gene: ENSMUSG00000071337
AA Change: D101G

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: D112G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093425
Gene: ENSMUSG00000071337
AA Change: D112G

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: D112G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093426
Gene: ENSMUSG00000071337
AA Change: D112G

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: D112G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138652
Gene: ENSMUSG00000071337
AA Change: D112G

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: D103G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109342
Gene: ENSMUSG00000071337
AA Change: D103G

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: D101G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118558
Gene: ENSMUSG00000071337
AA Change: D101G

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: D101G

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

SMART Domains

Protein: ENSMUSP00000144857
Gene: ENSMUSG00000071337
AA Change: D101G

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: ENSMUST00000126404

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143718

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: ENSMUST00000152852

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124683

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 93.0%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,756,316 (GRCm39)	S320T	probably benign	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Als2	T	C	1: 59,257,226 (GRCm39)	E12G	probably benign	Het
Arhgef10	A	T	8: 14,997,157 (GRCm39)	D321V	probably damaging	Het
Atp8a1	T	G	5: 67,906,395 (GRCm39)		probably null	Het
Avil	A	G	10: 126,846,494 (GRCm39)		probably null	Het
C2cd3	G	A	7: 100,021,704 (GRCm39)		probably null	Het
Cdhr18	C	T	14: 13,829,796 (GRCm38)	E649K	probably damaging	Het
Col18a1	G	A	10: 76,895,131 (GRCm39)	P1177S	probably damaging	Het
Copb2	T	A	9: 98,462,213 (GRCm39)	F428L	probably benign	Het
Cpa1	A	G	6: 30,640,923 (GRCm39)	E138G	probably damaging	Het
Ctsm	T	C	13: 61,686,249 (GRCm39)	I12V	possibly damaging	Het
Dctn1	A	G	6: 83,174,578 (GRCm39)	Q967R	possibly damaging	Het
Dok2	T	C	14: 71,014,393 (GRCm39)	Y194H	probably damaging	Het
Ezh2	C	T	6: 47,554,592 (GRCm39)	M1I	probably null	Het
Fkbp8	T	A	8: 70,984,282 (GRCm39)	L210Q	probably damaging	Het
Fpr1	T	A	17: 18,097,263 (GRCm39)	Q242L	probably benign	Het
Gal3st2b	T	A	1: 93,868,505 (GRCm39)	D243E	probably damaging	Het
Gm5422	A	G	10: 31,125,802 (GRCm39)		noncoding transcript	Het
Gucy1a2	A	G	9: 3,533,052 (GRCm39)	N84D	probably damaging	Het
Hsd3b5	A	C	3: 98,529,393 (GRCm39)	V79G	probably damaging	Het
Htr6	A	T	4: 138,788,804 (GRCm39)	V417E	probably benign	Het
Ifnar2	G	A	16: 91,188,755 (GRCm39)	V79I	probably benign	Het
Ighv10-1	T	C	12: 114,443,102 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,081,788 (GRCm39)	F182L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lama3	A	G	18: 12,540,551 (GRCm39)	Y285C	probably damaging	Het
Lamc2	C	A	1: 153,034,680 (GRCm39)	V108L	possibly damaging	Het
Lrrc14b	A	G	13: 74,509,373 (GRCm39)		probably null	Het
Magi3	T	C	3: 103,958,493 (GRCm39)	T531A	probably benign	Het
Mapre2	A	G	18: 23,966,011 (GRCm39)	Y32C	probably damaging	Het
Med1	C	T	11: 98,046,452 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nt5el	C	A	13: 105,218,749 (GRCm39)	Q28K	probably benign	Het
Or10a3b	A	C	7: 108,445,064 (GRCm39)	L51R	probably damaging	Het
Or51h1	A	G	7: 102,308,408 (GRCm39)	I127V	probably damaging	Het
Or5h23	G	A	16: 58,906,408 (GRCm39)	T146I	probably benign	Het
Or7a35	A	T	10: 78,853,239 (GRCm39)	I28L	probably benign	Het
Pde1b	A	G	15: 103,430,099 (GRCm39)	T143A	probably damaging	Het
Pkhd1	T	C	1: 20,593,121 (GRCm39)	D1664G	probably benign	Het
Plod3	C	T	5: 137,017,847 (GRCm39)	R208W	probably damaging	Het
Pstk	G	A	7: 130,986,271 (GRCm39)	A277T	possibly damaging	Het
Qrich1	T	C	9: 108,411,684 (GRCm39)	V403A	probably damaging	Het
Rad21	C	A	15: 51,833,436 (GRCm39)	V348F	probably damaging	Het
Sacs	T	A	14: 61,448,181 (GRCm39)	L3409*	probably null	Het
Setd4	T	A	16: 93,390,136 (GRCm39)	K98*	probably null	Het
Skint5	A	G	4: 113,341,123 (GRCm39)	V1385A	probably benign	Het
Stam	C	A	2: 14,151,059 (GRCm39)	S472*	probably null	Het
Stx2	A	G	5: 129,069,289 (GRCm39)	F141L	probably damaging	Het
Ttc21a	T	A	9: 119,783,228 (GRCm39)		probably null	Het
Usp34	T	A	11: 23,410,651 (GRCm39)	N2700K	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
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

2014-04-24