Mutagenetix > Incidental Mutation

Incidental Mutation 'R2895:Akirin1'

260739

Institutional Source

Beutler Lab

Gene Symbol

Akirin1

Ensembl Gene

ENSMUSG00000023075

Gene Name

akirin 1

Synonyms

6330407G11Rik

MMRRC Submission

040483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2895 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123628988-123644092 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123631864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 168 (E168G)

Ref Sequence

ENSEMBL: ENSMUSP00000099696 (fasta)

Gene Model

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

AlphaFold

Q99LF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000102636
AA Change: E168G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099696
Gene: ENSMUSG00000023075
AA Change: E168G

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

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,093,252 (GRCm39)	V1007A	probably benign	Het
Abhd14b	C	T	9: 106,327,313 (GRCm39)	R32C	probably benign	Het
Apol7e	A	T	15: 77,598,667 (GRCm39)	D44V	possibly damaging	Het
Asic1	A	G	15: 99,594,483 (GRCm39)	I310V	probably benign	Het
Atp6v0a1	A	G	11: 100,935,424 (GRCm39)	H661R	probably benign	Het
Caskin1	A	G	17: 24,708,016 (GRCm39)	R25G	probably damaging	Het
Cd96	G	T	16: 45,938,168 (GRCm39)	T99K	probably benign	Het
Cep250	C	A	2: 155,834,042 (GRCm39)	A1989D	probably benign	Het
Clasp1	T	G	1: 118,387,568 (GRCm39)	V78G	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Col15a1	T	C	4: 47,312,091 (GRCm39)	V1302A	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Cyb5r4	C	T	9: 86,922,452 (GRCm39)	Q154*	probably null	Het
Dnah7b	T	C	1: 46,178,901 (GRCm39)	F858S	probably damaging	Het
Dysf	G	A	6: 84,163,491 (GRCm39)		probably null	Het
H3f3a	C	T	1: 180,630,703 (GRCm39)	R117H	probably benign	Het
Igkv1-135	T	A	6: 67,587,332 (GRCm39)	S68T	probably benign	Het
Kmt2d	G	A	15: 98,741,820 (GRCm39)		probably benign	Het
Lonp1	A	G	17: 56,922,562 (GRCm39)	L688P	probably damaging	Het
Lpar6	A	G	14: 73,476,716 (GRCm39)	K226E	probably damaging	Het
Map3k19	T	C	1: 127,749,835 (GRCm39)	D968G	possibly damaging	Het
Med16	G	A	10: 79,739,005 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrps7	A	G	11: 115,495,865 (GRCm39)	M98V	probably benign	Het
Ms4a14	A	T	19: 11,281,595 (GRCm39)	I321N	possibly damaging	Het
Muc5ac	A	G	7: 141,344,877 (GRCm39)	D116G	possibly damaging	Het
Neu1	A	G	17: 35,151,758 (GRCm39)	D184G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,069,791 (GRCm39)		probably benign	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	CTGTCTCCTCCA	C	X: 132,582,057 (GRCm39)		probably null	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Plcz1	A	G	6: 139,968,877 (GRCm39)	I187T	possibly damaging	Het
Pot1b	A	T	17: 55,994,939 (GRCm39)	I241N	probably damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Ptpre	G	A	7: 135,245,587 (GRCm39)	W11*	probably null	Het
Rgsl1	T	A	1: 153,703,294 (GRCm39)	E154V	probably damaging	Het
Rnasel	T	C	1: 153,636,522 (GRCm39)	I634T	probably damaging	Het
Scn10a	A	T	9: 119,490,467 (GRCm39)	S492T	probably benign	Het
Sec24d	T	A	3: 123,136,800 (GRCm39)	V511E	probably damaging	Het
Slc7a1	A	G	5: 148,277,402 (GRCm39)	I371T	probably benign	Het
Smg1	A	G	7: 117,788,366 (GRCm39)		probably benign	Het
Sntg2	A	T	12: 30,276,845 (GRCm39)	S402R	probably benign	Het
Stfa3	C	A	16: 36,272,522 (GRCm39)	L59F	probably benign	Het
Tlr3	T	C	8: 45,850,629 (GRCm39)	E756G	possibly damaging	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	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
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

Predicted Primers

PCR Primer
(F):5'- ACCAAAGCATTCTTAGCCATTTCAC -3'
(R):5'- GGACTTCAGAAATCCAAGCTCATAG -3'

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

Posted On

2015-01-23