Mutagenetix > Incidental Mutation

Incidental Mutation 'R5041:Akna'

393204

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

042631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R5041 (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 63305381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 462 (Y462H)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035724
AA Change: Y462H

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: Y462H

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: ENSMUST00000144095

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (42/43)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,550,711 (GRCm39)	F667S	probably benign	Het
Anxa11	G	T	14: 25,875,188 (GRCm39)	E278*	probably null	Het
Ap3s2	T	C	7: 79,570,267 (GRCm39)	Y20C	probably benign	Het
Atxn7	T	C	14: 14,096,317 (GRCm38)		probably null	Het
AW551984	T	C	9: 39,511,894 (GRCm39)	Y39C	probably damaging	Het
Becn1	A	T	11: 101,179,662 (GRCm39)	S442T	probably benign	Het
Bhlhe40	C	T	6: 108,639,546 (GRCm39)	T108I	probably damaging	Het
Cnst	A	G	1: 179,432,593 (GRCm39)	D252G	probably damaging	Het
Cpxm1	A	G	2: 130,235,990 (GRCm39)	S391P	probably damaging	Het
Ctnna2	T	A	6: 76,892,746 (GRCm39)	N814Y	probably damaging	Het
Ddx3y	T	A	Y: 1,266,611 (GRCm39)	Y282F	probably benign	Het
Ddx56	A	G	11: 6,214,178 (GRCm39)	V357A	probably damaging	Het
Frmpd1	T	G	4: 45,278,878 (GRCm39)	C534W	probably damaging	Het
Gimap8	A	G	6: 48,636,097 (GRCm39)	N621D	probably damaging	Het
Herc1	T	A	9: 66,336,327 (GRCm39)	I1624N	possibly damaging	Het
Htr7	A	C	19: 36,034,467 (GRCm39)	W63G	probably benign	Het
Ly6g6c	T	A	17: 35,284,428 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,290,839 (GRCm39)		probably null	Het
Mfrp	A	G	9: 44,013,575 (GRCm39)	D62G	probably damaging	Het
Ncam1	T	C	9: 49,478,085 (GRCm39)	Y173C	probably damaging	Het
Nwd1	T	C	8: 73,431,683 (GRCm39)	V1185A	possibly damaging	Het
Or4c113	A	T	2: 88,885,265 (GRCm39)	C168*	probably null	Het
Or51h7	T	C	7: 102,591,785 (GRCm39)		probably null	Het
Pcf11	G	A	7: 92,307,613 (GRCm39)	P852S	probably benign	Het
Pramel25	T	C	4: 143,520,260 (GRCm39)	V4A	probably benign	Het
Ralgapa2	T	C	2: 146,327,071 (GRCm39)	I63V	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,287,572 (GRCm39)	F619L	probably damaging	Het
Sec24d	A	T	3: 123,087,880 (GRCm39)	Q247L	probably damaging	Het
Spmap2l	A	G	5: 77,203,928 (GRCm39)	T319A	probably benign	Het
Spns3	G	T	11: 72,427,373 (GRCm39)	Q306K	possibly damaging	Het
Sstr1	T	C	12: 58,259,941 (GRCm39)	V188A	possibly damaging	Het
Supt5	A	T	7: 28,014,805 (GRCm39)	L1024Q	probably damaging	Het
Tent4b	CCCAACAACGCCAACAA	CCCAACAA	8: 88,981,878 (GRCm39)		probably benign	Het
Unc13b	T	A	4: 43,237,836 (GRCm39)	H3452Q	probably benign	Het
Usp28	A	G	9: 48,949,073 (GRCm39)	Q864R	probably benign	Het
Vmn2r43	T	C	7: 8,247,806 (GRCm39)	T786A	probably damaging	Het
Yy1	TCACCACCACCACCACCACCACCACCACC	TCACCACCACCACCACCACCACCACCACCACC	12: 108,759,557 (GRCm39)		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
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
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
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'- AAGGTTCTCCCTCCATGAGC -3'
(R):5'- AGGCGGCTTTTAAGTCCTC -3'

Sequencing Primer
(F):5'- CTCCATGAGCAGGGGGATG -3'
(R):5'- TAAGTCCTCCGCCCAGTGTAG -3'

Posted On

2016-06-15