Mutagenetix > Incidental Mutation

Incidental Mutation 'R5018:Aunip'

389048

Institutional Source

Beutler Lab

Gene Symbol

Aunip

Ensembl Gene

ENSMUSG00000078521

Gene Name

aurora kinase A and ninein interacting protein

Synonyms

2610002D18Rik

MMRRC Submission

042609-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

134238310-134251233 bp(+) (GRCm39)

Type of Mutation

splice site (1940 bp from exon)

DNA Base Change (assembly)

T to A at 134250928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102550] [ENSMUST00000105866] [ENSMUST00000116279] [ENSMUST00000131613]

AlphaFold

E9Q6Z5

Predicted Effect

probably null
Transcript: ENSMUST00000102550

SMART Domains

Protein: ENSMUSP00000099609
Gene: ENSMUSG00000046671

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	7	251	4.9e-71	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105866
AA Change: F291Y

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101492
Gene: ENSMUSG00000078521
AA Change: F291Y

Domain	Start	End	E-Value	Type
Pfam:AIB	26	335	1.5e-134	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000116279

SMART Domains

Protein: ENSMUSP00000111983
Gene: ENSMUSG00000046671

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	7	251	4.9e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130187

Predicted Effect

probably benign
Transcript: ENSMUST00000131613

SMART Domains

Protein: ENSMUSP00000123326
Gene: ENSMUSG00000046671

Domain	Start	End	E-Value	Type
Pfam:Mito_fiss_reg	5	201	2.3e-69	PFAM

Meta Mutation Damage Score

0.2310

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

98% (49/50)

Allele List at MGI

All alleles(44) : Gene trapped(44)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	T	14: 68,809,228 (GRCm39)	F245I	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Alx4	G	T	2: 93,507,764 (GRCm39)	G353V	probably damaging	Het
Apol7b	A	G	15: 77,308,916 (GRCm39)	F61L	probably benign	Het
Bfsp1	C	A	2: 143,704,802 (GRCm39)	R17L	possibly damaging	Het
Birc6	T	A	17: 74,947,054 (GRCm39)	D2926E	probably damaging	Het
Dmwd	A	G	7: 18,812,044 (GRCm39)	D166G	probably damaging	Het
Dnah10	T	C	5: 124,839,260 (GRCm39)	S1233P	possibly damaging	Het
Dnah11	G	T	12: 118,094,463 (GRCm39)	N868K	probably benign	Het
Eea1	T	C	10: 95,846,899 (GRCm39)	V393A	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Flacc1	A	G	1: 58,730,109 (GRCm39)	V67A	probably benign	Het
Fyttd1	A	G	16: 32,722,787 (GRCm39)		probably null	Het
Hal	T	C	10: 93,343,413 (GRCm39)		probably null	Het
Hhat	A	T	1: 192,277,346 (GRCm39)	L371Q	probably damaging	Het
Hpse2	A	G	19: 43,373,263 (GRCm39)	F122S	possibly damaging	Het
Kif21b	A	G	1: 136,099,972 (GRCm39)	I1509V	probably benign	Het
Klhl20	T	C	1: 160,929,156 (GRCm39)	D334G	probably damaging	Het
Macf1	C	T	4: 123,279,392 (GRCm39)	D3870N	probably damaging	Het
Nlrc5	C	T	8: 95,252,080 (GRCm39)	A1867V	probably damaging	Het
Nr1h5	A	G	3: 102,855,111 (GRCm39)	L330P	probably damaging	Het
Or10g3b	A	C	14: 52,586,736 (GRCm39)	C256G	possibly damaging	Het
Pcdh15	T	G	10: 74,479,607 (GRCm39)	S573A	possibly damaging	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Scd4	T	A	19: 44,326,048 (GRCm39)	M134K	probably benign	Het
Sh3gl2	A	G	4: 85,309,291 (GRCm39)		probably benign	Het
Sin3a	T	A	9: 57,018,175 (GRCm39)	S865T	probably benign	Het
Slitrk3	G	A	3: 72,957,845 (GRCm39)	T309I	probably benign	Het
Sspo	G	A	6: 48,432,634 (GRCm39)	E837K	probably damaging	Het
Stag1	A	G	9: 100,833,672 (GRCm39)	D1095G	probably benign	Het
Trat1	A	T	16: 48,555,168 (GRCm39)	L188*	probably null	Het
Ubn1	A	G	16: 4,881,589 (GRCm39)	D207G	probably damaging	Het
Ugp2	A	G	11: 21,281,052 (GRCm39)	Y219H	probably damaging	Het
Ugt2b1	G	T	5: 87,073,821 (GRCm39)	Y179*	probably null	Het
Vmn2r27	T	A	6: 124,201,141 (GRCm39)	D272V	probably benign	Het
Vmn2r3	T	C	3: 64,178,774 (GRCm39)	E497G	probably benign	Het
Vmn2r91	G	T	17: 18,356,700 (GRCm39)	C789F	probably damaging	Het
Zfp276	A	G	8: 123,991,716 (GRCm39)		probably benign	Het

Other mutations in Aunip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01445:Aunip	APN	4	134,250,318 (GRCm39)	missense	probably benign	0.00
IGL01798:Aunip	APN	4	134,250,722 (GRCm39)	missense	possibly damaging	0.85
R0019:Aunip	UTSW	4	134,250,823 (GRCm39)	nonsense	probably null
R0173:Aunip	UTSW	4	134,250,861 (GRCm39)	missense	probably damaging	0.98
R2064:Aunip	UTSW	4	134,250,618 (GRCm39)	missense	probably benign	0.32
R3971:Aunip	UTSW	4	134,250,780 (GRCm39)	missense	possibly damaging	0.71
R4809:Aunip	UTSW	4	134,238,450 (GRCm39)	missense	possibly damaging	0.70
R8116:Aunip	UTSW	4	134,250,618 (GRCm39)	missense	possibly damaging	0.86
R8672:Aunip	UTSW	4	134,250,460 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTATAGATCTGGATCCTGCAGTAG -3'
(R):5'- GCGCAACTGCTTTATCCCAC -3'

Sequencing Primer
(F):5'- CTGGAGTCAGCTTTTCAC -3'
(R):5'- GCCACTTGCAGATACCCTC -3'

Posted On

2016-06-06