Mutagenetix > Incidental Mutation

Incidental Mutation 'R1539:Akna'

171535

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

039578-MU

Accession Numbers

Essential gene?

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

Stock #

R1539 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63297547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 836 (T836S)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035724
AA Change: T836S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: T836S

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

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 88.0%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,652,097 (GRCm39)		probably null	Het
Adh7	A	C	3: 137,929,716 (GRCm39)	T131P	possibly damaging	Het
Agxt	G	A	1: 93,065,701 (GRCm39)	G190D	probably damaging	Het
AI182371	A	G	2: 34,978,815 (GRCm39)	I193T	probably damaging	Het
Alox12	T	C	11: 70,144,069 (GRCm39)		probably null	Het
Anapc2	C	A	2: 25,163,075 (GRCm39)	T104K	probably benign	Het
Ank1	T	C	8: 23,583,935 (GRCm39)	L346P	probably damaging	Het
Ankfn1	A	T	11: 89,332,217 (GRCm39)	I443N	probably damaging	Het
Arhgef17	G	A	7: 100,539,680 (GRCm39)	T1066I	probably damaging	Het
Atg2a	C	A	19: 6,296,801 (GRCm39)		probably null	Het
Bpifb5	T	A	2: 154,065,776 (GRCm39)	H24Q	probably benign	Het
Brd9	A	G	13: 74,092,862 (GRCm39)	E283G	probably damaging	Het
Cadm2	C	A	16: 66,581,727 (GRCm39)	V184F	probably damaging	Het
Casr	A	G	16: 36,315,499 (GRCm39)	V857A	probably benign	Het
Ccdc18	A	T	5: 108,339,843 (GRCm39)	Q796L	probably damaging	Het
Cep290	T	C	10: 100,332,690 (GRCm39)	V263A	probably benign	Het
Clec10a	A	T	11: 70,060,645 (GRCm39)	N167Y	probably damaging	Het
Cog1	A	G	11: 113,543,058 (GRCm39)	I189V	possibly damaging	Het
Commd2	A	G	3: 57,554,269 (GRCm39)	I144T	probably benign	Het
Cse1l	A	G	2: 166,768,292 (GRCm39)	T197A	probably benign	Het
Csmd3	A	T	15: 47,683,794 (GRCm39)	S1783R	probably benign	Het
Cxxc1	T	C	18: 74,352,278 (GRCm39)	V334A	possibly damaging	Het
Dennd2d	A	G	3: 106,394,236 (GRCm39)	I39V	probably benign	Het
Dgkz	G	A	2: 91,768,405 (GRCm39)	P734S	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Dlec1	T	C	9: 118,956,518 (GRCm39)	S731P	probably benign	Het
Dmac2l	G	A	12: 69,787,845 (GRCm39)	D94N	probably benign	Het
Dnah11	T	C	12: 117,894,991 (GRCm39)	R3619G	probably benign	Het
Doc2b	A	G	11: 75,662,783 (GRCm39)	L405P	probably damaging	Het
Dock3	A	T	9: 106,829,563 (GRCm39)	I1117N	probably damaging	Het
Dock3	G	A	9: 106,874,112 (GRCm39)	A453V	probably benign	Het
Ece2	T	A	16: 20,461,263 (GRCm39)	I474N	probably damaging	Het
Etv4	A	T	11: 101,662,513 (GRCm39)		probably null	Het
Fam171b	A	T	2: 83,710,442 (GRCm39)	M705L	probably benign	Het
Frem2	T	C	3: 53,561,631 (GRCm39)	K959E	probably benign	Het
Fyn	T	C	10: 39,408,066 (GRCm39)	M251T	possibly damaging	Het
Galnt13	G	A	2: 54,747,869 (GRCm39)	G250E	probably damaging	Het
Ggh	T	C	4: 20,054,204 (GRCm39)		probably null	Het
Glcci1	A	G	6: 8,591,620 (GRCm39)	E222G	probably damaging	Het
Gm1968	G	A	16: 29,777,659 (GRCm39)		noncoding transcript	Het
Gm3604	T	A	13: 62,519,414 (GRCm39)	I52F	possibly damaging	Het
Gm43302	T	C	5: 105,422,635 (GRCm39)	I466V	probably benign	Het
Gm9789	T	C	16: 88,955,034 (GRCm39)	S48P	unknown	Het
Gpat3	A	T	5: 101,031,254 (GRCm39)	Y136F	probably benign	Het
Gpr171	T	C	3: 59,005,142 (GRCm39)	D211G	possibly damaging	Het
Grep1	T	A	17: 23,936,118 (GRCm39)		probably benign	Het
Hs3st1	T	C	5: 39,771,791 (GRCm39)	K284R	probably benign	Het
Htr2a	C	T	14: 74,882,608 (GRCm39)	A198V	possibly damaging	Het
Ice1	C	A	13: 70,754,023 (GRCm39)	D688Y	probably damaging	Het
Jade1	T	C	3: 41,559,431 (GRCm39)	M504T	probably benign	Het
Lrp1	T	C	10: 127,420,250 (GRCm39)		probably null	Het
Lsr	A	T	7: 30,671,517 (GRCm39)	I72N	possibly damaging	Het
Magel2	G	A	7: 62,028,557 (GRCm39)	R487H	possibly damaging	Het
Mertk	A	G	2: 128,624,446 (GRCm39)	D619G	probably benign	Het
Myo1b	A	T	1: 51,838,722 (GRCm39)	V245E	probably damaging	Het
Myrip	T	A	9: 120,253,689 (GRCm39)	L254Q	probably benign	Het
Nav3	A	G	10: 109,603,031 (GRCm39)	S1173P	probably damaging	Het
Ncoa7	T	C	10: 30,647,725 (GRCm39)	Y17C	probably damaging	Het
Ncor2	T	C	5: 125,187,003 (GRCm39)	E7G	probably benign	Het
Ninl	A	G	2: 150,817,867 (GRCm39)	V99A	probably damaging	Het
Noct	G	T	3: 51,155,333 (GRCm39)	E34*	probably null	Het
Notch1	A	T	2: 26,362,125 (GRCm39)	Y1043*	probably null	Het
Or10v1	T	C	19: 11,873,855 (GRCm39)	S157P	possibly damaging	Het
Or13a21	T	A	7: 139,999,326 (GRCm39)	Y120F	probably benign	Het
Or2d3	A	G	7: 106,490,483 (GRCm39)	Y278H	probably damaging	Het
Or6c88	G	A	10: 129,406,640 (GRCm39)	G39R	probably damaging	Het
Pde7b	C	A	10: 20,355,432 (GRCm39)	R104L	possibly damaging	Het
Pkn1	C	A	8: 84,396,966 (GRCm39)	R890L	possibly damaging	Het
Podn	A	T	4: 107,878,764 (GRCm39)	Y368N	probably damaging	Het
Polr1b	G	A	2: 128,960,019 (GRCm39)		probably null	Het
Ppp1r3c	A	T	19: 36,711,361 (GRCm39)	F136L	probably benign	Het
Ppp2ca	T	A	11: 52,011,800 (GRCm39)	F260Y	probably damaging	Het
Prss39	A	G	1: 34,537,616 (GRCm39)	S27G	possibly damaging	Het
Ptch1	A	G	13: 63,689,101 (GRCm39)	V340A	probably benign	Het
Ranbp17	T	C	11: 33,247,394 (GRCm39)	I246V	probably damaging	Het
Rilpl1	T	A	5: 124,653,618 (GRCm39)	D181V	probably damaging	Het
Sdk1	T	A	5: 142,080,354 (GRCm39)	V1282D	probably damaging	Het
Sh3rf2	T	C	18: 42,282,887 (GRCm39)	S514P	probably damaging	Het
Slc35f2	A	T	9: 53,716,992 (GRCm39)	I252F	possibly damaging	Het
Slc7a1	A	G	5: 148,272,403 (GRCm39)	Y425H	possibly damaging	Het
Spaca4	G	T	7: 45,374,984 (GRCm39)		probably benign	Het
Spata31d1b	T	C	13: 59,863,733 (GRCm39)	S294P	possibly damaging	Het
Ssh1	T	G	5: 114,090,064 (GRCm39)	T342P	probably damaging	Het
Stk10	T	A	11: 32,483,440 (GRCm39)	S13T	possibly damaging	Het
Tbx1	G	T	16: 18,402,843 (GRCm39)	D214E	probably benign	Het
Tdp1	A	G	12: 99,878,571 (GRCm39)	E453G	probably damaging	Het
Tlr1	T	C	5: 65,084,319 (GRCm39)	Y86C	probably damaging	Het
Tmem241	A	T	18: 12,176,297 (GRCm39)	C124S	possibly damaging	Het
Trp63	A	G	16: 25,703,599 (GRCm39)	M516V	probably benign	Het
Ttc28	T	C	5: 111,248,677 (GRCm39)	V210A	possibly damaging	Het
Tut1	C	T	19: 8,942,850 (GRCm39)	R646W	probably benign	Het
Ubald1	C	T	16: 4,694,261 (GRCm39)	E49K	possibly damaging	Het
Usp28	T	C	9: 48,949,096 (GRCm39)	Y897H	probably benign	Het
Vmn2r27	A	C	6: 124,168,730 (GRCm39)	F800C	probably damaging	Het
Vmn2r83	T	A	10: 79,327,759 (GRCm39)	M789K	probably damaging	Het
Vwa8	A	G	14: 79,300,002 (GRCm39)	D945G	probably benign	Het
Wdhd1	T	A	14: 47,482,507 (GRCm39)	K947N	possibly damaging	Het
Wdr12	A	T	1: 60,123,007 (GRCm39)		probably null	Het
Xrra1	A	T	7: 99,520,564 (GRCm39)	E57V	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TCAGCAGAGGACAAGTGGCCTTGG -3'
(R):5'- ATGCCCCTGGACTGGTGATGATCCC -3'

Sequencing Primer
(F):5'- CGGAGTTCAGACACCAGG -3'
(R):5'- TGAGGAACAGATGGGACCTA -3'

Posted On

2014-04-13