Mutagenetix > Incidental Mutation

Incidental Mutation 'R4743:Akna'

358170

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

041967-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R4743 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63296850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 909 (S909P)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035724]

AlphaFold

Q80VW7

Predicted Effect

probably damaging
Transcript: ENSMUST00000035724
AA Change: S909P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: S909P

Domain	Start	End	E-Value	Type
low complexity region	140	153	N/A	INTRINSIC
coiled coil region	423	458	N/A	INTRINSIC
Pfam:AKNA	584	681	4.6e-37	PFAM
low complexity region	760	774	N/A	INTRINSIC
low complexity region	1015	1029	N/A	INTRINSIC
coiled coil region	1044	1066	N/A	INTRINSIC
low complexity region	1296	1317	N/A	INTRINSIC
low complexity region	1319	1343	N/A	INTRINSIC
coiled coil region	1353	1386	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140586

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144095

Meta Mutation Damage Score

0.3636

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (44/45)

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic or a knock-out allele exhibit partial postnatal lethality, pathogen-induced acute neutrophil responses leading to systemic inflammation and alveolar destruction, and increased susceptibility to fungal infection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	A	G	1: 85,858,972 (GRCm39)		probably benign	Het
Ahcy	T	C	2: 154,910,888 (GRCm39)	N27D	probably damaging	Het
Akap9	T	G	5: 4,011,013 (GRCm39)	L572R	probably damaging	Het
Atr	A	G	9: 95,744,845 (GRCm39)	E54G	probably benign	Het
Baz2b	A	G	2: 59,744,255 (GRCm39)	S1417P	probably benign	Het
Colgalt2	A	G	1: 152,276,094 (GRCm39)	Y69C	probably damaging	Het
Comp	A	G	8: 70,828,711 (GRCm39)	E181G	probably damaging	Het
Dcaf10	T	A	4: 45,370,409 (GRCm39)	S326T	probably damaging	Het
Dscam	T	C	16: 96,631,256 (GRCm39)	E253G	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Epha1	G	T	6: 42,349,155 (GRCm39)	T36K	probably benign	Het
Ewsr1	A	T	11: 5,033,541 (GRCm39)	D210E	unknown	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fndc1	T	A	17: 7,991,111 (GRCm39)	R862*	probably null	Het
Gbp8	T	C	5: 105,178,707 (GRCm39)	K203E	possibly damaging	Het
Gigyf2	T	A	1: 87,292,970 (GRCm39)	L79*	probably null	Het
Gm8220	T	A	14: 44,523,152 (GRCm39)		probably benign	Het
Gm9755	A	T	8: 67,966,929 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,042 (GRCm39)	Y120H	probably damaging	Het
Kcnma1	T	C	14: 23,853,270 (GRCm39)	T2A	probably damaging	Het
Mroh9	T	C	1: 162,852,061 (GRCm39)	Y876C	probably benign	Het
Plekhh2	A	G	17: 84,878,548 (GRCm39)	Y601C	probably damaging	Het
Rabgap1l	G	T	1: 160,281,353 (GRCm39)	Q623K	probably damaging	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rapgef2	T	C	3: 79,080,375 (GRCm39)	Y109C	probably damaging	Het
Rhox2c	A	C	X: 36,635,351 (GRCm39)	Q4H	probably benign	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Slain2	T	A	5: 73,114,927 (GRCm39)	L386*	probably null	Het
Slc4a7	A	G	14: 14,796,073 (GRCm38)		probably null	Het
Slco1c1	T	C	6: 141,510,242 (GRCm39)	C582R	probably damaging	Het
Sulf1	A	G	1: 12,906,517 (GRCm39)	N520D	probably benign	Het
Tbc1d7	A	G	13: 43,323,325 (GRCm39)	V22A	probably damaging	Het
Tmprss6	A	G	15: 78,327,910 (GRCm39)	V612A	probably damaging	Het
Trpv2	A	G	11: 62,483,627 (GRCm39)	E488G	probably benign	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Uspl1	A	G	5: 149,146,566 (GRCm39)	Y439C	probably damaging	Het
Vwf	A	G	6: 125,661,054 (GRCm39)		probably null	Het

Other mutations in Akna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Akna	APN	4	63,316,110 (GRCm39)	critical splice donor site	probably null
IGL00590:Akna	APN	4	63,290,115 (GRCm39)	missense	probably benign	0.00
IGL01567:Akna	APN	4	63,300,087 (GRCm39)	missense	probably benign
IGL01667:Akna	APN	4	63,297,396 (GRCm39)	missense	probably benign	0.34
IGL01820:Akna	APN	4	63,304,495 (GRCm39)	missense	probably benign	0.30
IGL01956:Akna	APN	4	63,297,527 (GRCm39)	missense	probably benign	0.04
IGL02148:Akna	APN	4	63,300,716 (GRCm39)	splice site	probably benign
IGL02502:Akna	APN	4	63,286,440 (GRCm39)	missense	probably benign	0.28
IGL02674:Akna	APN	4	63,289,181 (GRCm39)	nonsense	probably null
IGL02792:Akna	APN	4	63,295,943 (GRCm39)	missense	possibly damaging	0.73
IGL02956:Akna	APN	4	63,304,516 (GRCm39)	missense	probably benign	0.05
R0035:Akna	UTSW	4	63,300,682 (GRCm39)	missense	probably benign	0.16
R0049:Akna	UTSW	4	63,312,872 (GRCm39)	missense	probably damaging	0.97
R0133:Akna	UTSW	4	63,297,598 (GRCm39)	nonsense	probably null
R0396:Akna	UTSW	4	63,310,363 (GRCm39)	splice site	probably benign
R0422:Akna	UTSW	4	63,310,391 (GRCm39)	missense	probably damaging	1.00
R0578:Akna	UTSW	4	63,289,147 (GRCm39)	missense	probably benign
R0784:Akna	UTSW	4	63,295,125 (GRCm39)	missense	probably benign
R1264:Akna	UTSW	4	63,299,962 (GRCm39)	splice site	probably null
R1539:Akna	UTSW	4	63,297,547 (GRCm39)	missense	probably benign	0.00
R1575:Akna	UTSW	4	63,297,570 (GRCm39)	missense	probably benign	0.01
R1646:Akna	UTSW	4	63,302,129 (GRCm39)	missense	probably benign
R2115:Akna	UTSW	4	63,313,397 (GRCm39)	missense	probably benign	0.01
R2121:Akna	UTSW	4	63,295,137 (GRCm39)	missense	probably benign	0.08
R2324:Akna	UTSW	4	63,290,039 (GRCm39)	missense	possibly damaging	0.92
R2961:Akna	UTSW	4	63,313,181 (GRCm39)	missense	probably benign	0.04
R3150:Akna	UTSW	4	63,313,590 (GRCm39)	missense	possibly damaging	0.80
R3552:Akna	UTSW	4	63,316,361 (GRCm39)	start codon destroyed	probably null	0.53
R3855:Akna	UTSW	4	63,291,705 (GRCm39)	missense	probably damaging	0.98
R4023:Akna	UTSW	4	63,292,627 (GRCm39)	missense	probably benign
R4247:Akna	UTSW	4	63,313,409 (GRCm39)	missense	probably benign	0.00
R4299:Akna	UTSW	4	63,316,269 (GRCm39)	missense	possibly damaging	0.59
R4422:Akna	UTSW	4	63,305,330 (GRCm39)	missense	possibly damaging	0.86
R4499:Akna	UTSW	4	63,313,278 (GRCm39)	missense	probably benign
R4723:Akna	UTSW	4	63,305,269 (GRCm39)	missense	probably benign
R4780:Akna	UTSW	4	63,297,491 (GRCm39)	missense	probably benign
R4903:Akna	UTSW	4	63,292,274 (GRCm39)	missense	probably damaging	1.00
R4936:Akna	UTSW	4	63,313,502 (GRCm39)	missense	probably damaging	0.97
R5041:Akna	UTSW	4	63,305,381 (GRCm39)	missense	possibly damaging	0.67
R5276:Akna	UTSW	4	63,286,440 (GRCm39)	missense	possibly damaging	0.95
R5297:Akna	UTSW	4	63,300,083 (GRCm39)	missense	possibly damaging	0.93
R5546:Akna	UTSW	4	63,313,803 (GRCm39)	missense	probably benign
R5546:Akna	UTSW	4	63,313,196 (GRCm39)	missense	probably benign	0.15
R5773:Akna	UTSW	4	63,313,307 (GRCm39)	missense	probably benign	0.41
R5966:Akna	UTSW	4	63,313,140 (GRCm39)	missense	probably damaging	0.99
R6127:Akna	UTSW	4	63,286,356 (GRCm39)	missense	possibly damaging	0.67
R6176:Akna	UTSW	4	63,295,969 (GRCm39)	missense	probably benign	0.04
R6337:Akna	UTSW	4	63,292,240 (GRCm39)	missense	probably benign	0.00
R6701:Akna	UTSW	4	63,313,517 (GRCm39)	missense	probably benign
R6800:Akna	UTSW	4	63,316,268 (GRCm39)	missense	probably benign
R6931:Akna	UTSW	4	63,305,339 (GRCm39)	missense	probably benign	0.02
R7451:Akna	UTSW	4	63,296,904 (GRCm39)	missense	probably benign	0.16
R7644:Akna	UTSW	4	63,313,634 (GRCm39)	missense	possibly damaging	0.48
R7786:Akna	UTSW	4	63,313,199 (GRCm39)	missense	probably benign
R8182:Akna	UTSW	4	63,313,034 (GRCm39)	missense	probably damaging	1.00
R9136:Akna	UTSW	4	63,310,392 (GRCm39)	missense	probably damaging	1.00
R9178:Akna	UTSW	4	63,312,846 (GRCm39)	missense	possibly damaging	0.95
R9563:Akna	UTSW	4	63,312,944 (GRCm39)	missense	probably damaging	1.00
R9687:Akna	UTSW	4	63,292,674 (GRCm39)	nonsense	probably null
R9768:Akna	UTSW	4	63,292,636 (GRCm39)	missense	probably benign
RF048:Akna	UTSW	4	63,296,078 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGGCTGAGCGATATCAAG -3'
(R):5'- GCTATAAGGTCAGACAGCACTG -3'

Sequencing Primer
(F):5'- AGGCTCTCTGTCAGCATGATAG -3'
(R):5'- TCAGACAGCACTGGGGTCTTG -3'

Posted On

2015-11-11