Mutagenetix > Incidental Mutation

Incidental Mutation 'R8548:Akirin1'

659734

Institutional Source

Beutler Lab

Gene Symbol

Akirin1

Ensembl Gene

ENSMUSG00000023075

Gene Name

akirin 1

Synonyms

6330407G11Rik

MMRRC Submission

068513-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8548 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123628988-123644092 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123631831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 179 (M179T)

Ref Sequence

ENSEMBL: ENSMUSP00000099696 (fasta)

Gene Model

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

AlphaFold

Q99LF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102636
AA Change: M179T

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099696
Gene: ENSMUSG00000023075
AA Change: M179T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	A	T	5: 121,658,165 (GRCm39)	L376Q	probably damaging	Het
Ap5b1	G	T	19: 5,621,123 (GRCm39)	V848L	possibly damaging	Het
Apoa2	T	A	1: 171,053,798 (GRCm39)	M91K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cdc20	A	C	4: 118,293,535 (GRCm39)	S160A	possibly damaging	Het
Cftr	G	T	6: 18,273,698 (GRCm39)	V839L	possibly damaging	Het
Ctf1	A	T	7: 127,316,564 (GRCm39)	H171L	probably benign	Het
Dmac2	T	A	7: 25,324,217 (GRCm39)	M225K	probably damaging	Het
Dmbx1	A	T	4: 115,777,512 (GRCm39)	V112E	probably damaging	Het
Eloa	T	C	4: 135,732,988 (GRCm39)	K754R	probably damaging	Het
Ern2	G	A	7: 121,777,062 (GRCm39)	T286I	probably damaging	Het
Fam135b	T	C	15: 71,334,659 (GRCm39)	D845G	probably damaging	Het
Fbxl6	T	A	15: 76,421,542 (GRCm39)	M232L	possibly damaging	Het
Gpr171	A	T	3: 59,005,400 (GRCm39)	I125K	probably damaging	Het
Hoxa2	G	A	6: 52,140,098 (GRCm39)	T296I	probably damaging	Het
Hspa8	A	G	9: 40,713,767 (GRCm39)	M87V	probably benign	Het
Ilkap	G	T	1: 91,318,882 (GRCm39)	D31E	possibly damaging	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Macc1	T	A	12: 119,414,091 (GRCm39)	S756T	probably benign	Het
Map2	A	G	1: 66,452,499 (GRCm39)	D545G	probably damaging	Het
Mapkbp1	A	G	2: 119,854,572 (GRCm39)	N1390D	probably benign	Het
Mgat5	G	A	1: 127,248,409 (GRCm39)	V104M	possibly damaging	Het
Myoz2	T	A	3: 122,827,916 (GRCm39)	M1L	possibly damaging	Het
Nmt1	A	G	11: 102,934,052 (GRCm39)	K64E	possibly damaging	Het
Nr6a1	C	A	2: 38,619,550 (GRCm39)	Q448H	probably damaging	Het
Nr6a1	T	G	2: 38,619,551 (GRCm39)	Q448P	probably damaging	Het
Odf2	T	C	2: 29,783,526 (GRCm39)		probably null	Het
Or8g37	T	A	9: 39,731,537 (GRCm39)	C201S	probably benign	Het
Osbpl6	A	G	2: 76,409,566 (GRCm39)	N476S	possibly damaging	Het
Pclo	A	G	5: 14,732,268 (GRCm39)		probably null	Het
Plxnd1	C	T	6: 115,934,558 (GRCm39)	D1792N	probably damaging	Het
Prdm11	C	T	2: 92,843,103 (GRCm39)	V119M	probably damaging	Het
Prss23	A	G	7: 89,159,416 (GRCm39)	F218L	probably benign	Het
Rflnb	A	G	11: 75,913,047 (GRCm39)	Y114H	probably damaging	Het
Skor2	T	A	18: 76,946,581 (GRCm39)	I101N	unknown	Het
Sp8	A	C	12: 118,812,910 (GRCm39)	Y255S	possibly damaging	Het
Srfbp1	G	A	18: 52,621,463 (GRCm39)	V175I	probably benign	Het
Stxbp5	C	T	10: 9,693,050 (GRCm39)	D359N	probably null	Het
Thnsl1	A	G	2: 21,217,733 (GRCm39)	I496V	possibly damaging	Het
Usp32	G	A	11: 84,908,653 (GRCm39)	P1018S	possibly damaging	Het
Usp7	A	T	16: 8,529,939 (GRCm39)	V142E	possibly damaging	Het

Other mutations in Akirin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02487:Akirin1	APN	4	123,637,357 (GRCm39)	missense	probably benign	0.05
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
Z1176:Akirin1	UTSW	4	123,643,860 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CCAAAGCATTCTTAGCCATTTCAC -3'
(R):5'- TGTGAAGCCATTGGTAGAGG -3'

Sequencing Primer
(F):5'- ACGAGATCTGACTACCTCTTCTGGAG -3'
(R):5'- TTCCTAAATTGCCGAGGC -3'

Posted On

2021-01-18