Mutagenetix > Incidental Mutation

Incidental Mutation 'R9687:Akna'

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Institutional Source

Beutler Lab

Gene Symbol

Akna

Ensembl Gene

ENSMUSG00000039158

Gene Name

AT-hook transcription factor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R9687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63367125-63403354 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 63374437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1078 (C1078*)

Ref Sequence

ENSEMBL: ENSMUSP00000041614 (fasta)

Gene Model

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

AlphaFold

Q80VW7

Predicted Effect

probably null
Transcript: ENSMUST00000035724
AA Change: C1078*

SMART Domains

Protein: ENSMUSP00000041614
Gene: ENSMUSG00000039158
AA Change: C1078*

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: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	A	G	11: 48,948,422	L446P	probably damaging	Het
Abcc9	T	C	6: 142,633,163	T927A	probably benign	Het
Abraxas2	A	G	7: 132,880,848	T258A	probably benign	Het
Arhgap24	T	A	5: 102,846,156	F34L	probably benign	Het
Cpa5	C	T	6: 30,614,042	T61I	probably benign	Het
Crebrf	A	G	17: 26,763,627	*654W	probably null	Het
Dchs1	C	A	7: 105,757,984	R2134L	probably damaging	Het
Dcps	T	C	9: 35,124,682	N303D	probably damaging	Het
Ddhd1	C	T	14: 45,610,733	E527K	probably damaging	Het
Dnah14	T	A	1: 181,598,413	M174K	probably benign	Het
Ehd1	A	G	19: 6,298,300	D436G		Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Etv1	T	C	12: 38,861,362	Y396H	probably damaging	Het
Fam189a2	A	G	19: 23,979,665	I327T	probably damaging	Het
Fbxo11	A	G	17: 88,009,066	I293T		Het
Gcfc2	T	A	6: 81,941,342	S338T	probably damaging	Het
Gm10272	T	C	10: 77,706,930	V102A	possibly damaging	Het
Gm11110	T	C	17: 57,103,439	T20A	unknown	Het
Gm17359	G	A	3: 79,429,992	D36N	possibly damaging	Het
Gna14	G	A	19: 16,604,986	R206Q		Het
Gpm6a	T	C	8: 55,050,174	Y153H	possibly damaging	Het
Grip1	G	A	10: 120,038,664	E778K	possibly damaging	Het
H2-M10.6	G	A	17: 36,814,255	V313I	probably benign	Het
Igkv8-19	T	C	6: 70,341,021	I74V	probably benign	Het
Kif24	A	G	4: 41,428,546	L138P	probably damaging	Het
Kif26a	A	G	12: 112,177,191	E1293G	probably damaging	Het
Lrp1	A	C	10: 127,566,693	L2203R	probably damaging	Het
Ms4a6b	A	G	19: 11,520,442	D35G	possibly damaging	Het
Myo1h	A	T	5: 114,320,708	D184V		Het
Ncdn	G	A	4: 126,748,674	R397W	probably damaging	Het
Ncor1	A	T	11: 62,369,367	I519N	possibly damaging	Het
Obsl1	A	G	1: 75,503,026	V575A	probably damaging	Het
Olfr1031	G	T	2: 85,991,876	V20L	probably benign	Het
Olfr1351	T	A	10: 79,018,009	I229N	probably damaging	Het
Olfr1387	T	C	11: 49,459,691	F4S	probably benign	Het
Osbpl5	A	G	7: 143,693,861	Y747H	possibly damaging	Het
Pcdh18	T	A	3: 49,756,587	D93V	probably damaging	Het
Ppef2	T	A	5: 92,238,887	D397V	probably benign	Het
Ppfia4	G	A	1: 134,317,956	T620I	probably benign	Het
Ppp1r9a	T	C	6: 4,905,978	S178P	probably damaging	Het
Ptchd4	A	G	17: 42,502,576	Y456C	probably damaging	Het
Pxk	A	G	14: 8,151,567	I461V	possibly damaging	Het
Rab18	T	A	18: 6,784,622	N104K	probably benign	Het
Sars	A	G	3: 108,435,905	L90P	probably benign	Het
Scaf8	T	A	17: 3,171,135	I299N	unknown	Het
Sh3bp2	C	T	5: 34,559,633	P463S	probably benign	Het
Slc12a3	A	G	8: 94,348,580	N734S	possibly damaging	Het
Slc12a7	G	T	13: 73,790,677	R191L	probably damaging	Het
Slc7a12	A	G	3: 14,480,900	Y35C	possibly damaging	Het
Susd4	A	G	1: 182,895,197		probably null	Het
Taar7f	G	A	10: 24,049,829	R107K	probably benign	Het
Tarm1	T	C	7: 3,495,941	T237A	probably benign	Het
Tshr	C	A	12: 91,537,665	A459E	probably damaging	Het
Tubgcp5	G	T	7: 55,825,579		probably null	Het
Unc13b	T	C	4: 43,174,920	V1916A	unknown	Het
Unc45b	A	G	11: 82,919,736	D274G	probably damaging	Het
Vmn1r230	T	A	17: 20,847,342	Y264*	probably null	Het
Vmn2r109	G	T	17: 20,555,070	Q132K		Het
Zbtb20	A	G	16: 43,609,797	S151G	possibly damaging	Het
Zbtb22	A	C	17: 33,917,876	T332P	probably damaging	Het
Zc3h6	A	G	2: 129,017,361	D1104G	probably damaging	Het
Zfp748	A	G	13: 67,542,352	V263A	probably benign	Het
Zhx3	A	C	2: 160,781,758	V163G	probably benign	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
R3552:Akna	UTSW	4	63398124	start codon destroyed	probably null	0.53
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
R9136:Akna	UTSW	4	63392155	missense	probably damaging	1.00
R9178:Akna	UTSW	4	63394609	missense	possibly damaging	0.95
R9563:Akna	UTSW	4	63394707	missense	probably damaging	1.00
R9768:Akna	UTSW	4	63374399	missense	probably benign
RF048:Akna	UTSW	4	63377841	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAGAGTATAGTGTCTGAGTCCC -3'
(R):5'- GTCAAGGCTGTTGTTACTGGAC -3'

Sequencing Primer
(F):5'- ATAGTGTCTGAGTCCCTGTGCC -3'
(R):5'- GTTACTGGACTGTACAGCCCGATC -3'

Posted On

2022-10-06