Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01970:Trnau1ap'

182542

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trnau1ap

Ensembl Gene

ENSMUSG00000028898

Gene Name

tRNA selenocysteine 1 associated protein 1

Synonyms

1110007F05Rik, SECp43, Trspap1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

IGL01970

Quality Score

Status

Chromosome

Chromosomal Location

132039074-132056849 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 132041298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127273 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000147652] [ENSMUST00000127402] [ENSMUST00000137520]

AlphaFold

Q80VC6

Predicted Effect

probably benign
Transcript: ENSMUST00000030730

SMART Domains

Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898

Domain	Start	End	E-Value	Type
RRM	4	78	3.66e-8	SMART
RRM	97	171	2.2e-11	SMART
low complexity region	185	204	N/A	INTRINSIC
low complexity region	213	229	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083163

Predicted Effect

probably benign
Transcript: ENSMUST00000105962

SMART Domains

Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898

Domain	Start	End	E-Value	Type
RRM	4	78	3.66e-8	SMART
PDB:2DHG\|A	87	137	7e-24	PDB
SCOP:d1cvja1	97	137	9e-5	SMART
Blast:RRM	97	138	2e-20	BLAST
low complexity region	145	164	N/A	INTRINSIC
low complexity region	173	189	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116965

Predicted Effect

probably benign
Transcript: ENSMUST00000125513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146166

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150959

Predicted Effect

probably benign
Transcript: ENSMUST00000147652

SMART Domains

Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898

Domain	Start	End	E-Value	Type
RRM	4	78	1.73e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144705

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126380

Predicted Effect

probably benign
Transcript: ENSMUST00000127402

SMART Domains

Protein: ENSMUSP00000120657
Gene: ENSMUSG00000028898

Domain	Start	End	E-Value	Type
RRM	4	78	3.66e-8	SMART
low complexity region	101	120	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232301

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232260

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231453

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an allele lacking exons 7 and 8 exhibit prenatal lethality. Mice homozygous for a conditional allele activated in neurons exhibit impaired performance on a rotarod. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk9	T	C	2: 32,598,063 (GRCm39)	H280R	possibly damaging	Het
Cenpt	C	T	8: 106,571,748 (GRCm39)	R461H	probably damaging	Het
Cpa4	A	G	6: 30,579,645 (GRCm39)	T151A	probably benign	Het
Glrb	A	G	3: 80,769,232 (GRCm39)	I165T	possibly damaging	Het
Gm17305	A	T	11: 69,255,646 (GRCm39)		probably benign	Het
Kdm5b	T	A	1: 134,528,465 (GRCm39)	S391T	probably damaging	Het
Klrg2	T	C	6: 38,613,383 (GRCm39)	K207E	probably damaging	Het
Krt1	T	C	15: 101,755,299 (GRCm39)	I487V	possibly damaging	Het
Krt27	A	G	11: 99,239,547 (GRCm39)	L311P	probably damaging	Het
Leng9	T	C	7: 4,151,326 (GRCm39)	Y450C	probably damaging	Het
Oacyl	A	T	18: 65,882,785 (GRCm39)	I627F	possibly damaging	Het
Perm1	G	T	4: 156,302,118 (GRCm39)	G221W	probably damaging	Het
Rft1	C	T	14: 30,412,492 (GRCm39)	L518F	probably benign	Het
Sdk1	A	T	5: 142,071,437 (GRCm39)	Q1209L	possibly damaging	Het
Selenbp1	A	G	3: 94,844,313 (GRCm39)	S57G	probably benign	Het
Sema5a	T	C	15: 32,686,792 (GRCm39)	M968T	probably benign	Het
Slc16a3	G	A	11: 120,847,864 (GRCm39)	V351M	probably damaging	Het
Sorbs2	G	A	8: 46,198,840 (GRCm39)	V73I	probably damaging	Het
Specc1l	T	A	10: 75,081,595 (GRCm39)	D347E	probably damaging	Het
Tas2r116	A	C	6: 132,832,632 (GRCm39)	T78P	probably benign	Het
Tpm3	A	G	3: 89,997,135 (GRCm39)	E224G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,813 (GRCm39)	M228K	probably damaging	Het
Vnn1	T	C	10: 23,773,300 (GRCm39)	I109T	probably benign	Het
Wee1	C	A	7: 109,738,457 (GRCm39)	H523Q	probably damaging	Het
Xpr1	T	C	1: 155,165,980 (GRCm39)	N524S	probably benign	Het

Other mutations in Trnau1ap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Trnau1ap	APN	4	132,055,817 (GRCm39)	missense	possibly damaging	0.95
IGL01926:Trnau1ap	APN	4	132,046,873 (GRCm39)	missense	probably benign	0.39
IGL02336:Trnau1ap	APN	4	132,041,331 (GRCm39)	nonsense	probably null
IGL03248:Trnau1ap	APN	4	132,049,114 (GRCm39)	missense	probably damaging	1.00
IGL03046:Trnau1ap	UTSW	4	132,039,252 (GRCm39)	missense	probably damaging	1.00
R0079:Trnau1ap	UTSW	4	132,041,656 (GRCm39)	missense	probably damaging	1.00
R1940:Trnau1ap	UTSW	4	132,049,114 (GRCm39)	missense	probably damaging	1.00
R2849:Trnau1ap	UTSW	4	132,049,045 (GRCm39)	missense	possibly damaging	0.69
R4683:Trnau1ap	UTSW	4	132,049,063 (GRCm39)	missense	probably damaging	1.00
R5056:Trnau1ap	UTSW	4	132,054,482 (GRCm39)	intron	probably benign
R5819:Trnau1ap	UTSW	4	132,052,521 (GRCm39)	splice site	probably benign
R6803:Trnau1ap	UTSW	4	132,049,081 (GRCm39)	missense	probably damaging	0.99
R9069:Trnau1ap	UTSW	4	132,056,662 (GRCm39)	critical splice donor site	probably null
R9183:Trnau1ap	UTSW	4	132,052,565 (GRCm39)	missense	probably damaging	1.00
R9314:Trnau1ap	UTSW	4	132,056,697 (GRCm39)	start gained	probably benign

Posted On

2014-05-07