Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Trnau1ap'

533427

Institutional Source

Beutler Lab

Gene Symbol

Trnau1ap

Ensembl Gene

ENSMUSG00000028898

Gene Name

tRNA selenocysteine 1 associated protein 1

Synonyms

1110007F05Rik, SECp43, Trspap1

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.968) question?

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132039074-132056849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 132049081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 41 (V41M)

Ref Sequence

ENSEMBL: ENSMUSP00000101580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105960] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000127402] [ENSMUST00000137520] [ENSMUST00000147652]

AlphaFold

Q80VC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000030730
AA Change: V107M

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

SMART Domains

Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: V107M

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

probably damaging
Transcript: ENSMUST00000105960
AA Change: V41M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101580
Gene: ENSMUSG00000028898
AA Change: V41M

Domain	Start	End	E-Value	Type
PDB:2DHG\|A	21	70	9e-25	PDB
SCOP:d1fj7a_	22	70	7e-7	SMART
Blast:RRM	31	70	2e-21	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105962
AA Change: V107M

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
AA Change: V107M

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

probably benign
Transcript: ENSMUST00000125513

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

probably benign
Transcript: ENSMUST00000147652

SMART Domains

Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898

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

Meta Mutation Damage Score

0.1808

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	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
IGL01970:Trnau1ap	APN	4	132,041,298 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTGCGCAGAAAACCTTAGTAACAG -3'
(R):5'- TCGGGGCATGGTACTATTTC -3'

Sequencing Primer
(F):5'- CACAGTCCTTGTCAGTGATGAAGC -3'
(R):5'- CGGGGCATGGTACTATTTCCATAAC -3'

Posted On

2018-09-12