Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02487:Akirin1'

295490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akirin1

Ensembl Gene

ENSMUSG00000023075

Gene Name

akirin 1

Synonyms

6330407G11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02487

Quality Score

Status

Chromosome

Chromosomal Location

123628988-123644092 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123637357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 76 (F76S)

Ref Sequence

ENSEMBL: ENSMUSP00000099696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102636]

AlphaFold

Q99LF1

Predicted Effect

probably benign
Transcript: ENSMUST00000102636
AA Change: F76S

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099696
Gene: ENSMUSG00000023075
AA Change: F76S

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142778

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153472

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, healthy and do not exhibit any gross developmental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	T	A	11: 54,227,769 (GRCm39)	I308N	possibly damaging	Het
Adal	C	T	2: 120,985,877 (GRCm39)	T204I	probably benign	Het
Arhgef5	A	T	6: 43,260,916 (GRCm39)	N1447I	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
B230217C12Rik	A	G	11: 97,733,054 (GRCm39)	N125S	probably benign	Het
Dcaf11	G	T	14: 55,806,571 (GRCm39)	K457N	probably benign	Het
Dnah10	G	A	5: 124,870,916 (GRCm39)	V2348M	possibly damaging	Het
Eif4g3	T	C	4: 137,930,689 (GRCm39)	V1665A	possibly damaging	Het
Fat4	A	T	3: 38,941,394 (GRCm39)	I96F	probably damaging	Het
Gm29253	T	C	1: 75,149,321 (GRCm39)		probably null	Het
Gvin-ps6	A	G	7: 106,022,471 (GRCm39)		noncoding transcript	Het
Hnrnpm	C	A	17: 33,867,787 (GRCm39)	G676C	probably damaging	Het
Iah1	T	C	12: 21,371,440 (GRCm39)	M185T	probably damaging	Het
Klc1	A	T	12: 111,738,886 (GRCm39)	I45F	probably damaging	Het
Lce1h	G	A	3: 92,671,048 (GRCm39)	P35S	unknown	Het
Lrrc37a	T	C	11: 103,386,863 (GRCm39)	E2419G	unknown	Het
Lrrc8c	T	A	5: 105,754,457 (GRCm39)	S77R	probably benign	Het
Mcm3ap	T	A	10: 76,343,389 (GRCm39)		probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ntng1	A	T	3: 109,842,363 (GRCm39)	S137T	probably damaging	Het
Odf2	C	A	2: 29,810,851 (GRCm39)	A578E	possibly damaging	Het
Pecam1	G	A	11: 106,562,606 (GRCm39)	T698I	probably damaging	Het
Pex10	A	T	4: 155,155,190 (GRCm39)	H288L	probably damaging	Het
Pkhd1l1	T	C	15: 44,322,822 (GRCm39)	V36A	possibly damaging	Het
Podxl	T	C	6: 31,499,957 (GRCm39)	*504W	probably null	Het
Rab42	A	G	4: 132,029,614 (GRCm39)	S203P	probably benign	Het
Rsf1	T	C	7: 97,288,698 (GRCm39)	S192P	probably damaging	Het
Scap	C	T	9: 110,207,758 (GRCm39)	T489I	probably benign	Het
Sost	C	A	11: 101,857,633 (GRCm39)	R56L	possibly damaging	Het
Speer4a3	T	A	5: 26,156,605 (GRCm39)	I125F	probably benign	Het
Spmip10	T	A	18: 56,727,571 (GRCm39)	W90R	possibly damaging	Het
Sptbn4	A	G	7: 27,118,522 (GRCm39)	V264A	probably damaging	Het
Stx3	A	G	19: 11,760,469 (GRCm39)	V236A	probably damaging	Het
Syt2	T	C	1: 134,668,603 (GRCm39)	F5S	probably damaging	Het
Thrap3	T	C	4: 126,060,794 (GRCm39)	D855G	possibly damaging	Het
Ticrr	T	C	7: 79,332,769 (GRCm39)	V874A	possibly damaging	Het
Tmem26	A	G	10: 68,614,563 (GRCm39)	E326G	probably benign	Het
Tsga13	A	T	6: 30,884,362 (GRCm39)	Y119N	probably damaging	Het
Tspoap1	C	T	11: 87,653,342 (GRCm39)	T136I	possibly damaging	Het
Ttc21b	T	C	2: 66,065,500 (GRCm39)	T425A	probably benign	Het
Ttc27	A	G	17: 75,163,549 (GRCm39)	Y719C	probably damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Vmn1r197	A	G	13: 22,512,792 (GRCm39)	M238V	probably damaging	Het

Other mutations in Akirin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02890:Akirin1	APN	4	123,631,855 (GRCm39)	missense	probably damaging	0.99
R1470:Akirin1	UTSW	4	123,631,883 (GRCm39)	splice site	probably benign
R1674:Akirin1	UTSW	4	123,637,256 (GRCm39)	missense	possibly damaging	0.91
R2895:Akirin1	UTSW	4	123,631,864 (GRCm39)	missense	probably damaging	0.98
R4933:Akirin1	UTSW	4	123,630,651 (GRCm39)	missense	probably damaging	0.97
R6038:Akirin1	UTSW	4	123,643,956 (GRCm39)	start codon destroyed	probably null	1.00
R6393:Akirin1	UTSW	4	123,637,324 (GRCm39)	missense	possibly damaging	0.61
R6985:Akirin1	UTSW	4	123,630,649 (GRCm39)	makesense	probably null
R8138:Akirin1	UTSW	4	123,637,238 (GRCm39)	missense	probably benign	0.01
R8548:Akirin1	UTSW	4	123,631,831 (GRCm39)	missense	possibly damaging	0.93
Z1176:Akirin1	UTSW	4	123,643,860 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16