Mutagenetix > Incidental Mutation

Incidental Mutation 'R7451:Akna'

577703

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

045525-MU

Accession Numbers

Essential gene?

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

Stock #

R7451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63285362-63321591 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63296904 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 891 (M891L)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably benign
Transcript: ENSMUST00000035724
AA Change: M891L

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: M891L

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: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (84/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,148,797 (GRCm39)	I794T	probably damaging	Het
Abcc5	T	A	16: 20,193,820 (GRCm39)	H767L	probably damaging	Het
Adgrb2	A	T	4: 129,908,350 (GRCm39)	M1031L	probably damaging	Het
Aloxe3	C	A	11: 69,033,746 (GRCm39)	T620K	possibly damaging	Het
Amph	A	G	13: 19,261,538 (GRCm39)	Y63C	probably damaging	Het
Asprv1	A	G	6: 86,605,930 (GRCm39)	I259V	probably benign	Het
Atp7b	C	T	8: 22,504,700 (GRCm39)	W652*	probably null	Het
Atp8a2	C	T	14: 60,028,630 (GRCm39)	D946N	probably null	Het
BC024063	T	A	10: 81,944,576 (GRCm39)	N65K	probably benign	Het
Bean1	A	T	8: 104,940,628 (GRCm39)	M154L	probably benign	Het
Bltp1	G	T	3: 37,076,956 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,570,981 (GRCm39)	V2181M	unknown	Het
Cacna1g	A	G	11: 94,319,901 (GRCm39)	I1425T	probably damaging	Het
Caskin2	A	G	11: 115,702,981 (GRCm39)		probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap97d1	A	T	11: 101,882,283 (GRCm39)	N147I	possibly damaging	Het
Cfd	T	A	10: 79,727,362 (GRCm39)	V43E	probably damaging	Het
Chd9	GCCCC	GCCC	8: 91,760,418 (GRCm39)		probably null	Het
Chd9	T	A	8: 91,760,446 (GRCm39)	S2064T	probably benign	Het
Cpsf2	T	G	12: 101,967,051 (GRCm39)	V646G	possibly damaging	Het
Ctif	T	C	18: 75,652,874 (GRCm39)	D461G	possibly damaging	Het
Cyp3a41a	T	A	5: 145,636,550 (GRCm39)	E414D	probably benign	Het
Dagla	A	G	19: 10,230,719 (GRCm39)	V544A	probably damaging	Het
Dhx57	A	T	17: 80,554,542 (GRCm39)	V1228E	probably damaging	Het
Eif2b3	T	A	4: 116,909,993 (GRCm39)	L176*	probably null	Het
Fbxw26	T	A	9: 109,561,691 (GRCm39)	I168L	probably benign	Het
Flt3	T	A	5: 147,286,477 (GRCm39)	Y703F	probably damaging	Het
Frmpd1	C	T	4: 45,279,558 (GRCm39)	P761L	probably benign	Het
Gabrd	A	G	4: 155,472,916 (GRCm39)	V89A	possibly damaging	Het
Galnt14	A	T	17: 73,881,804 (GRCm39)	H98Q	probably benign	Het
Gli3	T	C	13: 15,900,876 (GRCm39)	V1421A	possibly damaging	Het
Gprin2	A	G	14: 33,917,762 (GRCm39)	S3P	probably damaging	Het
Ifi211	T	G	1: 173,727,058 (GRCm39)	D362A	probably damaging	Het
Lars1	G	T	18: 42,335,615 (GRCm39)	T1167K	probably benign	Het
Lce1b	T	C	3: 92,563,207 (GRCm39)	S109G	unknown	Het
Lrp2	T	G	2: 69,343,677 (GRCm39)	E894A	probably damaging	Het
Mamdc4	A	G	2: 25,454,473 (GRCm39)	V1081A	possibly damaging	Het
Mcub	T	C	3: 129,710,752 (GRCm39)	S227G	possibly damaging	Het
Mki67	A	G	7: 135,301,080 (GRCm39)	I1318T	probably benign	Het
Mybl2	C	T	2: 162,914,626 (GRCm39)	T248I	possibly damaging	Het
Myo9b	A	T	8: 71,804,832 (GRCm39)	H1441L	probably benign	Het
Nav2	T	A	7: 49,202,577 (GRCm39)		probably null	Het
Neb	C	T	2: 52,091,466 (GRCm39)	V5339I	probably benign	Het
Nktr	T	A	9: 121,558,722 (GRCm39)	S88T	probably damaging	Het
Nup155	C	T	15: 8,175,091 (GRCm39)	Q963*	probably null	Het
Oas1c	A	C	5: 120,940,207 (GRCm39)	L320V	possibly damaging	Het
Or10ak14	C	T	4: 118,610,884 (GRCm39)	A286T	probably benign	Het
Or10d1b	G	A	9: 39,613,423 (GRCm39)	T214I	probably damaging	Het
Or1o11	C	A	17: 37,757,196 (GRCm39)	S261R	probably damaging	Het
Or2t46	A	G	11: 58,472,516 (GRCm39)	Y282C	probably damaging	Het
Or4a81	A	G	2: 89,619,453 (GRCm39)	M81T	probably benign	Het
Or52b4i	T	C	7: 102,191,461 (GRCm39)	I106T	probably benign	Het
Pcdhga7	A	G	18: 37,849,057 (GRCm39)	S355G	possibly damaging	Het
Pde11a	C	T	2: 75,853,117 (GRCm39)	V834I	possibly damaging	Het
Pdzrn4	A	T	15: 92,667,948 (GRCm39)	D700V	possibly damaging	Het
Pif1	C	A	9: 65,495,630 (GRCm39)	P180Q	probably benign	Het
Pkig	G	T	2: 163,563,083 (GRCm39)	E5*	probably null	Het
Pla2r1	T	A	2: 60,365,346 (GRCm39)	M75L	probably damaging	Het
Pllp	T	C	8: 95,402,871 (GRCm39)	S157G	probably damaging	Het
Ppfia1	A	T	7: 144,061,947 (GRCm39)	H566Q	probably benign	Het
Ptpn13	A	G	5: 103,674,961 (GRCm39)	D646G	probably benign	Het
Rab11fip5	T	A	6: 85,318,538 (GRCm39)	T784S	probably benign	Het
Rad51ap2	T	G	12: 11,507,982 (GRCm39)	S635A	probably benign	Het
Ranbp17	A	T	11: 33,234,114 (GRCm39)		probably null	Het
Rce1	C	T	19: 4,675,081 (GRCm39)	G111D	probably damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rimbp2	C	T	5: 128,865,435 (GRCm39)	V631I	probably benign	Het
Scai	T	C	2: 39,015,148 (GRCm39)	T94A	probably damaging	Het
Sfmbt1	G	A	14: 30,538,768 (GRCm39)	A796T	probably benign	Het
Slc6a11	C	A	6: 114,222,644 (GRCm39)	Y546*	probably null	Het
Slc7a2	T	C	8: 41,365,686 (GRCm39)	S506P	probably damaging	Het
Synj2	T	A	17: 6,080,066 (GRCm39)	N1098K	possibly damaging	Het
Tmem177	G	A	1: 119,837,971 (GRCm39)	A236V	probably damaging	Het
Togaram1	T	A	12: 65,043,749 (GRCm39)	D1249E	probably damaging	Het
Trav17	A	T	14: 54,044,096 (GRCm39)	M1L	probably damaging	Het
Trim25	C	A	11: 88,906,563 (GRCm39)	A433D	possibly damaging	Het
Trim69	T	C	2: 121,998,508 (GRCm39)	F160S	probably benign	Het
Trio	A	T	15: 27,747,999 (GRCm39)	V1407E	probably benign	Het
Trpm7	A	T	2: 126,668,657 (GRCm39)	M753K	probably damaging	Het
Ttc12	G	T	9: 49,383,179 (GRCm39)	A75E	probably benign	Het
Uchl4	A	T	9: 64,143,013 (GRCm39)	I165L	probably benign	Het
Uvrag	A	T	7: 98,790,120 (GRCm39)	L13Q	unknown	Het
Wwc2	G	A	8: 48,317,610 (GRCm39)	R656W	not run	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
R6931:Akna	UTSW	4	63,305,339 (GRCm39)	missense	probably benign	0.02
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'- TGCTAAGACCATTGACCCCTG -3'
(R):5'- CACCTGCAAGTGGTAATTTGAGG -3'

Sequencing Primer
(F):5'- TGTTTCCAGGCTACCACAGAC -3'
(R):5'- CAAGTGGTAATTTGAGGAGCTG -3'

Posted On

2019-10-07