Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02061:Tra2a'

185409

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tra2a

Ensembl Gene

ENSMUSG00000029817

Gene Name

transformer 2 alpha

Synonyms

mAWMS1, G430041M01Rik, 1500010G04Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.740) question?

Stock #

IGL02061

Quality Score

Status

Chromosome

Chromosomal Location

49220858-49240967 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49226032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 136 (V136A)

Ref Sequence

ENSEMBL: ENSMUSP00000031841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031841] [ENSMUST00000203820] [ENSMUST00000204189]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031841
AA Change: V136A

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031841
Gene: ENSMUSG00000029817
AA Change: V136A

Domain	Start	End	E-Value	Type
low complexity region	29	106	N/A	INTRINSIC
RRM	118	191	4.12e-25	SMART
low complexity region	213	282	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203820

Predicted Effect

probably benign
Transcript: ENSMUST00000204189
AA Change: V136A

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145039
Gene: ENSMUSG00000029817
AA Change: V136A

Domain	Start	End	E-Value	Type
low complexity region	29	106	N/A	INTRINSIC
RRM	118	191	1.8e-27	SMART
low complexity region	214	280	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204818

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl15	T	A	13: 113,931,193 (GRCm39)	D3E	probably benign	Het
Atp4a	A	G	7: 30,414,454 (GRCm39)	Y159C	probably damaging	Het
Card10	A	G	15: 78,662,415 (GRCm39)	F861S	probably damaging	Het
Ccdc85c	A	G	12: 108,188,002 (GRCm39)	V279A	probably damaging	Het
Cndp1	G	A	18: 84,652,751 (GRCm39)	R136W	probably damaging	Het
Eif2b3	A	G	4: 116,885,608 (GRCm39)	E50G	possibly damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
Eva1c	C	T	16: 90,663,163 (GRCm39)	Q67*	probably null	Het
Exoc1	A	G	5: 76,689,967 (GRCm39)	E169G	probably damaging	Het
Fsd2	T	A	7: 81,190,172 (GRCm39)	K537*	probably null	Het
Gbf1	T	G	19: 46,267,697 (GRCm39)	S1236A	possibly damaging	Het
Gpt	C	A	15: 76,583,617 (GRCm39)		probably benign	Het
Gsap	A	G	5: 21,486,609 (GRCm39)		probably benign	Het
Hdac6	A	C	X: 7,809,878 (GRCm39)		probably null	Het
Ivns1abp	T	A	1: 151,227,324 (GRCm39)	L44Q	probably damaging	Het
Kcnt1	T	A	2: 25,790,494 (GRCm39)		probably null	Het
Kdm2b	A	G	5: 123,021,404 (GRCm39)	I58T	probably damaging	Het
Mrpl23	C	T	7: 142,094,319 (GRCm39)	P76S	probably benign	Het
Nbea	A	G	3: 55,625,308 (GRCm39)	I2261T	possibly damaging	Het
Oasl1	G	A	5: 115,061,651 (GRCm39)	V61M	probably damaging	Het
Or4g7	T	A	2: 111,309,614 (GRCm39)	F162I	possibly damaging	Het
Pabpc2	A	G	18: 39,908,046 (GRCm39)	Q437R	probably benign	Het
Ppp1r26	T	A	2: 28,340,639 (GRCm39)	C90S	possibly damaging	Het
Ppp3ca	A	G	3: 136,503,624 (GRCm39)	T66A	probably benign	Het
Prss55	A	G	14: 64,313,192 (GRCm39)	Y231H	possibly damaging	Het
Psmb10	T	C	8: 106,664,343 (GRCm39)	T38A	probably damaging	Het
Rfx5	A	G	3: 94,865,792 (GRCm39)	T364A	probably benign	Het
Scgb2b26	T	C	7: 33,642,610 (GRCm39)	N107S	probably benign	Het
Seh1l	A	G	18: 67,920,328 (GRCm39)		probably benign	Het
Skic3	T	A	13: 76,277,660 (GRCm39)		probably null	Het
Sod1	T	A	16: 90,022,126 (GRCm39)	H111Q	probably benign	Het
Thbs2	A	T	17: 14,900,176 (GRCm39)	D592E	probably benign	Het
Tmem67	G	A	4: 12,053,526 (GRCm39)	A740V	probably damaging	Het
Utp18	T	C	11: 93,772,967 (GRCm39)	D158G	probably benign	Het
Zfp524	A	G	7: 5,020,871 (GRCm39)	E133G	probably damaging	Het

Other mutations in Tra2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03160:Tra2a	APN	6	49,240,798 (GRCm39)	missense	possibly damaging	0.46
IGL03246:Tra2a	APN	6	49,226,019 (GRCm39)	nonsense	probably null
IGL03098:Tra2a	UTSW	6	49,225,969 (GRCm39)	missense	probably damaging	1.00
R0492:Tra2a	UTSW	6	49,227,889 (GRCm39)	utr 3 prime	probably benign
R0544:Tra2a	UTSW	6	49,227,885 (GRCm39)	utr 3 prime	probably benign
R1634:Tra2a	UTSW	6	49,227,891 (GRCm39)	utr 3 prime	probably benign
R2174:Tra2a	UTSW	6	49,227,861 (GRCm39)	utr 3 prime	probably benign
R2571:Tra2a	UTSW	6	49,229,421 (GRCm39)	utr 3 prime	probably benign
R3154:Tra2a	UTSW	6	49,222,446 (GRCm39)	utr 3 prime	probably benign
R3897:Tra2a	UTSW	6	49,222,476 (GRCm39)	utr 3 prime	probably benign
R4488:Tra2a	UTSW	6	49,229,428 (GRCm39)	utr 3 prime	probably benign
R5358:Tra2a	UTSW	6	49,227,949 (GRCm39)	utr 3 prime	probably benign
R6045:Tra2a	UTSW	6	49,229,398 (GRCm39)	utr 3 prime	probably benign
R7303:Tra2a	UTSW	6	49,227,921 (GRCm39)	missense	unknown
R7450:Tra2a	UTSW	6	49,227,919 (GRCm39)	nonsense	probably null
X0026:Tra2a	UTSW	6	49,229,326 (GRCm39)	utr 3 prime	probably benign

Posted On

2014-05-07