Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Akna'

540003

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

045326-MU

Accession Numbers

Essential gene?

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

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 63305339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 476 (S476P)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035724
AA Change: S476P

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: S476P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,118,561 (GRCm39)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,246,523 (GRCm39)	S6R	unknown	Het
Abca6	T	A	11: 110,135,154 (GRCm39)	L210F	probably benign	Het
Abcc4	T	C	14: 118,765,400 (GRCm39)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,100,884 (GRCm39)	D811G	possibly damaging	Het
Ankrd49	T	C	9: 14,694,122 (GRCm39)	N15S	probably benign	Het
Apcdd1	A	G	18: 63,066,979 (GRCm39)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,142,625 (GRCm39)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,373,138 (GRCm39)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm39)		probably null	Het
Axl	T	C	7: 25,460,858 (GRCm39)	D717G	probably damaging	Het
Bub1	T	A	2: 127,643,302 (GRCm39)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,259,195 (GRCm39)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,579,002 (GRCm39)	C289S	probably damaging	Het
Coasy	A	G	11: 100,974,407 (GRCm39)	H191R	probably benign	Het
Cyp11a1	A	T	9: 57,932,403 (GRCm39)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,439 (GRCm39)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,333,018 (GRCm39)		probably null	Het
Dnah9	A	T	11: 66,008,452 (GRCm39)	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,682,487 (GRCm39)	Q505H	probably benign	Het
Fam135a	T	A	1: 24,124,568 (GRCm39)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,329,260 (GRCm39)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,871,238 (GRCm39)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,888,914 (GRCm39)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,919,966 (GRCm39)	I390V	probably benign	Het
Gemin4	A	G	11: 76,101,782 (GRCm39)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,723,993 (GRCm39)	D647V	probably damaging	Het
Gpr84	A	C	15: 103,217,441 (GRCm39)	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,158,997 (GRCm39)		probably benign	Het
Hspg2	G	T	4: 137,268,031 (GRCm39)	C2116F	probably damaging	Het
Icam4	T	A	9: 20,941,747 (GRCm39)	V249E	probably damaging	Het
Itga1	T	C	13: 115,138,099 (GRCm39)	N429D	probably benign	Het
Kcns1	T	C	2: 164,006,758 (GRCm39)	T402A	probably damaging	Het
Ky	T	A	9: 102,414,826 (GRCm39)	V246E	probably damaging	Het
Marchf1	A	G	8: 66,921,144 (GRCm39)	T529A	probably benign	Het
Med18	C	G	4: 132,187,194 (GRCm39)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,696,249 (GRCm39)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,350,472 (GRCm39)	I470T	probably benign	Het
Muc1	C	T	3: 89,136,466 (GRCm39)		probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm39)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,378,192 (GRCm39)	L341*	probably null	Het
Nacad	A	G	11: 6,551,877 (GRCm39)	F438S	probably benign	Het
Necap2	C	A	4: 140,805,523 (GRCm39)		probably null	Het
Nifk	T	C	1: 118,260,078 (GRCm39)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,201,293 (GRCm39)	I73V	probably benign	Het
Nup50l	T	C	6: 96,142,529 (GRCm39)	T172A	possibly damaging	Het
Oog3	C	T	4: 143,885,923 (GRCm39)	C225Y	probably benign	Het
Or2d2	A	G	7: 106,728,108 (GRCm39)	L164P	probably damaging	Het
Or4b13	A	T	2: 90,083,121 (GRCm39)	C70*	probably null	Het
Or4c100	T	A	2: 88,356,538 (GRCm39)	C204S	possibly damaging	Het
Or4p18	G	A	2: 88,232,408 (GRCm39)	T290I	probably benign	Het
Plagl2	C	A	2: 153,077,863 (GRCm39)	K39N	probably benign	Het
Plcg2	T	A	8: 118,284,058 (GRCm39)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,161,786 (GRCm39)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,478,764 (GRCm39)	T442S	probably benign	Het
Prr14l	G	A	5: 32,988,035 (GRCm39)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,594,797 (GRCm39)	V63I	probably benign	Het
Psmc6	T	A	14: 45,581,182 (GRCm39)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,091,885 (GRCm39)	T405A	probably benign	Het
Rbm33	G	A	5: 28,615,743 (GRCm39)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Scarb1	T	A	5: 125,361,783 (GRCm39)	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,394,186 (GRCm39)	S19G	probably benign	Het
Slc44a5	T	C	3: 153,964,143 (GRCm39)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,552,139 (GRCm39)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,628,764 (GRCm39)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,259,467 (GRCm39)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,531,805 (GRCm39)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,183,149 (GRCm39)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,244,644 (GRCm39)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,843,640 (GRCm39)	M198K	probably benign	Het
Ttll8	A	G	15: 88,798,507 (GRCm39)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,460,580 (GRCm39)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,435,269 (GRCm39)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,697,016 (GRCm39)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,932,170 (GRCm39)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,380,553 (GRCm39)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,252,860 (GRCm39)		probably null	Het
Zpld2	A	T	4: 133,920,464 (GRCm39)	M567K	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
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
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'- CCTAAGGTTCTCCCTCCATGAG -3'
(R):5'- TTAAGTCCTCCGCCCAGTGTAG -3'

Sequencing Primer
(F):5'- TTCTCCCTCCATGAGCAGGG -3'
(R):5'- CGTGATTCCCAGGCTAAGGATG -3'

Posted On

2018-11-06