Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01567:Akna'

91018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01567

Quality Score

Status

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63300087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 652 (T652A)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035724
AA Change: T652A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T652A

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,071,628 (GRCm39)	S317G	probably benign	Het
Anxa9	G	A	3: 95,209,743 (GRCm39)		probably benign	Het
Bpifb4	T	A	2: 153,789,198 (GRCm39)		probably benign	Het
Bptf	A	G	11: 106,949,600 (GRCm39)	S2125P	probably damaging	Het
Capns2	C	A	8: 93,628,634 (GRCm39)	H174Q	probably benign	Het
Cd200	A	C	16: 45,215,054 (GRCm39)	L199R	probably damaging	Het
Clasp2	T	C	9: 113,709,164 (GRCm39)	V651A	probably damaging	Het
Cox18	G	A	5: 90,365,447 (GRCm39)	Q251*	probably null	Het
Depdc1a	T	C	3: 159,232,183 (GRCm39)	S645P	probably damaging	Het
Dio3	T	A	12: 110,245,861 (GRCm39)	C66S	possibly damaging	Het
Dock9	A	T	14: 121,890,496 (GRCm39)	L258Q	probably damaging	Het
Ghrhr	A	G	6: 55,361,108 (GRCm39)	D274G	probably damaging	Het
Gm5129	A	G	5: 29,940,862 (GRCm39)		probably benign	Het
Grb7	A	G	11: 98,345,776 (GRCm39)	N518S	probably damaging	Het
Kdm5b	G	A	1: 134,530,278 (GRCm39)	A430T	probably damaging	Het
Map10	C	A	8: 126,398,232 (GRCm39)	Q542K	probably benign	Het
Metap1	T	C	3: 138,168,150 (GRCm39)	T325A	probably damaging	Het
Ncan	A	T	8: 70,560,984 (GRCm39)	M661K	probably benign	Het
Or2f1b	T	C	6: 42,739,661 (GRCm39)	I225T	probably benign	Het
Or51h5	A	G	7: 102,577,623 (GRCm39)	I263V	probably benign	Het
Otog	T	C	7: 45,926,039 (GRCm39)		probably benign	Het
Pip4k2b	T	C	11: 97,620,387 (GRCm39)	D116G	probably damaging	Het
Rps15	T	A	10: 80,129,643 (GRCm39)	L86Q	probably benign	Het
Sfxn4	G	T	19: 60,842,336 (GRCm39)	T122K	probably damaging	Het
Slc4a3	T	C	1: 75,527,526 (GRCm39)	V165A	probably damaging	Het
Spmip7	A	G	11: 11,465,015 (GRCm39)	H122R	possibly damaging	Het
Synm	A	G	7: 67,384,980 (GRCm39)	V452A	probably damaging	Het
Tdpoz1	T	C	3: 93,578,013 (GRCm39)	H257R	possibly damaging	Het
Tmem26	A	G	10: 68,587,061 (GRCm39)	T170A	probably damaging	Het
Wdfy4	T	G	14: 32,873,618 (GRCm39)	E230D	probably benign	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
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
R4743:Akna	UTSW	4	63,296,850 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-12-09