Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01667:Akna'

103338

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: 0.094) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 63297396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 886 (T886N)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035724
AA Change: T886N

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T886N

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,219,767 (GRCm39)	T57A	probably damaging	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
Awat2	C	T	X: 99,447,860 (GRCm39)	G124D	probably damaging	Het
Camsap1	A	G	2: 25,835,293 (GRCm39)		probably benign	Het
Catsperg2	T	C	7: 29,409,558 (GRCm39)	Y545C	probably damaging	Het
Cldn23	A	G	8: 36,293,074 (GRCm39)	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,929,819 (GRCm39)		probably benign	Het
Dlgap3	C	A	4: 127,127,690 (GRCm39)	T786K	probably benign	Het
Dnah2	A	C	11: 69,435,221 (GRCm39)	S50A	probably benign	Het
Dnah2	A	T	11: 69,411,767 (GRCm39)	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,586,451 (GRCm39)	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,592,588 (GRCm39)	P115L	probably damaging	Het
Fzd2	G	T	11: 102,496,608 (GRCm39)	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,436,062 (GRCm39)	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,068,344 (GRCm39)	I46S	probably damaging	Het
Gm5581	T	C	6: 131,144,735 (GRCm39)		noncoding transcript	Het
Krt1c	C	A	15: 101,724,765 (GRCm39)	V282L	possibly damaging	Het
Myh15	G	A	16: 49,015,942 (GRCm39)	V1873M	probably benign	Het
Myo1b	T	C	1: 51,799,536 (GRCm39)	T931A	probably damaging	Het
Myo6	A	T	9: 80,197,175 (GRCm39)	K965N	unknown	Het
Or5a3	T	C	19: 12,400,120 (GRCm39)	V149A	probably benign	Het
Pcnx3	T	C	19: 5,736,658 (GRCm39)	R160G	probably benign	Het
Slc22a16	T	C	10: 40,461,014 (GRCm39)	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,144,610 (GRCm39)	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,863,254 (GRCm39)	M1T	probably null	Het
St6gal1	A	G	16: 23,140,174 (GRCm39)	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,902,744 (GRCm39)		probably benign	Het
Tfrc	A	G	16: 32,443,261 (GRCm39)		probably benign	Het
Trip11	A	C	12: 101,845,121 (GRCm39)	F1539C	probably damaging	Het
Ttn	A	T	2: 76,611,422 (GRCm39)	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,225 (GRCm39)	M206L	probably benign	Het
Zfp362	A	G	4: 128,680,902 (GRCm39)	L141P	probably damaging	Het
Zfp692	A	G	11: 58,202,379 (GRCm39)	H378R	probably damaging	Het
Zfp799	T	C	17: 33,040,794 (GRCm39)	Q52R	possibly damaging	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
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

2014-01-21