Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Akna'

268978

Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63367125-63403354 bp(-) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 63398124 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000035724
AA Change: M1V

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: M1V

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

0.9622

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Akna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00533:Akna	APN	4	63397873	critical splice donor site	probably null
IGL00590:Akna	APN	4	63371878	missense	probably benign	0.00
IGL01567:Akna	APN	4	63381850	missense	probably benign
IGL01667:Akna	APN	4	63379159	missense	probably benign	0.34
IGL01820:Akna	APN	4	63386258	missense	probably benign	0.30
IGL01956:Akna	APN	4	63379290	missense	probably benign	0.04
IGL02148:Akna	APN	4	63382479	splice site	probably benign
IGL02502:Akna	APN	4	63368203	missense	probably benign	0.28
IGL02674:Akna	APN	4	63370944	nonsense	probably null
IGL02792:Akna	APN	4	63377706	missense	possibly damaging	0.73
IGL02956:Akna	APN	4	63386279	missense	probably benign	0.05
R0035:Akna	UTSW	4	63382445	missense	probably benign	0.16
R0049:Akna	UTSW	4	63394635	missense	probably damaging	0.97
R0133:Akna	UTSW	4	63379361	nonsense	probably null
R0396:Akna	UTSW	4	63392126	splice site	probably benign
R0422:Akna	UTSW	4	63392154	missense	probably damaging	1.00
R0578:Akna	UTSW	4	63370910	missense	probably benign
R0784:Akna	UTSW	4	63376888	missense	probably benign
R1264:Akna	UTSW	4	63381725	splice site	probably null
R1539:Akna	UTSW	4	63379310	missense	probably benign	0.00
R1575:Akna	UTSW	4	63379333	missense	probably benign	0.01
R1646:Akna	UTSW	4	63383892	missense	probably benign
R2115:Akna	UTSW	4	63395160	missense	probably benign	0.01
R2121:Akna	UTSW	4	63376900	missense	probably benign	0.08
R2324:Akna	UTSW	4	63371802	missense	possibly damaging	0.92
R2961:Akna	UTSW	4	63394944	missense	probably benign	0.04
R3150:Akna	UTSW	4	63395353	missense	possibly damaging	0.80
R3855:Akna	UTSW	4	63373468	missense	probably damaging	0.98
R4023:Akna	UTSW	4	63374390	missense	probably benign
R4247:Akna	UTSW	4	63395172	missense	probably benign	0.00
R4299:Akna	UTSW	4	63398032	missense	possibly damaging	0.59
R4422:Akna	UTSW	4	63387093	missense	possibly damaging	0.86
R4499:Akna	UTSW	4	63395041	missense	probably benign
R4723:Akna	UTSW	4	63387032	missense	probably benign
R4743:Akna	UTSW	4	63378613	missense	probably damaging	1.00
R4780:Akna	UTSW	4	63379254	missense	probably benign
R4903:Akna	UTSW	4	63374037	missense	probably damaging	1.00
R4936:Akna	UTSW	4	63395265	missense	probably damaging	0.97
R5041:Akna	UTSW	4	63387144	missense	possibly damaging	0.67
R5276:Akna	UTSW	4	63368203	missense	possibly damaging	0.95
R5297:Akna	UTSW	4	63381846	missense	possibly damaging	0.93
R5546:Akna	UTSW	4	63394959	missense	probably benign	0.15
R5546:Akna	UTSW	4	63395566	missense	probably benign
R5773:Akna	UTSW	4	63395070	missense	probably benign	0.41
R5966:Akna	UTSW	4	63394903	missense	probably damaging	0.99
R6127:Akna	UTSW	4	63368119	missense	possibly damaging	0.67
R6176:Akna	UTSW	4	63377732	missense	probably benign	0.04
R6337:Akna	UTSW	4	63374003	missense	probably benign	0.00
R6701:Akna	UTSW	4	63395280	missense	probably benign
R6800:Akna	UTSW	4	63398031	missense	probably benign
R6931:Akna	UTSW	4	63387102	missense	probably benign	0.02
R7451:Akna	UTSW	4	63378667	missense	probably benign	0.16
R7644:Akna	UTSW	4	63395397	missense	possibly damaging	0.48
R7786:Akna	UTSW	4	63394962	missense	probably benign
R8182:Akna	UTSW	4	63394797	missense	probably damaging	1.00
RF048:Akna	UTSW	4	63377841	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCGGAGTCCTGCATGTCTG -3'
(R):5'- GATGAGTTCCTGGACGGATG -3'

Sequencing Primer
(F):5'- ATGTCTGGGTCCCACTCCAG -3'
(R):5'- CTGGACGGATGGTGGAAGACTC -3'

Posted On

2015-02-19