Mutagenetix > Incidental Mutation

Incidental Mutation 'R6083:Ahnak2'

482328

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

044242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R6083 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112772194-112802657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112782999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 1076 (Q1076P)

Ref Sequence

ENSEMBL: ENSMUSP00000114522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124526]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000124526
AA Change: Q1076P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: Q1076P

Domain	Start	End	E-Value	Type
low complexity region	73	94	N/A	INTRINSIC
PDZ	118	190	6e-4	SMART
low complexity region	268	281	N/A	INTRINSIC
low complexity region	300	319	N/A	INTRINSIC
low complexity region	405	429	N/A	INTRINSIC
internal_repeat_1	465	898	2.74e-235	PROSPERO
low complexity region	905	923	N/A	INTRINSIC
low complexity region	990	1013	N/A	INTRINSIC
low complexity region	1076	1092	N/A	INTRINSIC
internal_repeat_1	1145	1588	2.74e-235	PROSPERO
low complexity region	1590	1632	N/A	INTRINSIC
low complexity region	1639	1700	N/A	INTRINSIC
low complexity region	1709	1736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137195

SMART Domains

Protein: ENSMUSP00000116582
Gene: ENSMUSG00000072812

Domain	Start	End	E-Value	Type
internal_repeat_1	2	521	3.81e-221	PROSPERO
low complexity region	557	569	N/A	INTRINSIC
internal_repeat_1	606	1126	3.81e-221	PROSPERO

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

96% (76/79)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	A	11: 58,878,851	P73Q	possibly damaging	Het
Aak1	A	T	6: 86,963,996	I591F	unknown	Het
Ace	C	A	11: 105,985,267	Y816*	probably null	Het
Ap2a1	G	A	7: 44,907,751	R263W	probably damaging	Het
Arhgap29	A	G	3: 121,992,748	T257A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Ccdc17	A	T	4: 116,596,926	Q47L	possibly damaging	Het
Cep170	C	T	1: 176,774,625	R305H	probably damaging	Het
Cyb5r4	C	T	9: 87,057,168	P335S	probably damaging	Het
Cyp2c54	A	G	19: 40,073,762	L17P	probably benign	Het
Cyp2c69	A	T	19: 39,849,456	V394E	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Defb36	A	T	2: 152,604,488	M1L	unknown	Het
Dnaja1	A	G	4: 40,731,713	D263G	probably benign	Het
Dock10	T	C	1: 80,532,431	N1560S	probably damaging	Het
Efnb2	T	C	8: 8,622,328		probably null	Het
Eif3e	A	G	15: 43,266,144	I196T	probably damaging	Het
Ercc4	T	A	16: 13,110,039	C24*	probably null	Het
Fmn1	A	G	2: 113,364,303	E116G	unknown	Het
Gnas	A	G	2: 174,297,862	M1V	probably null	Het
Grin2a	C	A	16: 9,579,540	M894I	probably benign	Het
Herc2	G	T	7: 56,228,505	S4566I	probably benign	Het
Hmcn1	G	A	1: 150,755,293	P918L	probably damaging	Het
Hmcn1	G	T	1: 150,755,294	P918T	probably damaging	Het
Hsd3b2	T	A	3: 98,712,056	Y191F	possibly damaging	Het
Ifit1bl2	A	C	19: 34,619,817	F133C	possibly damaging	Het
Itih2	T	C	2: 10,108,894		probably benign	Het
Itsn1	T	C	16: 91,853,011	L191P	probably benign	Het
Kdr	T	C	5: 75,944,366	K1068R	probably damaging	Het
Lmtk2	T	C	5: 144,182,756	L1345P	probably damaging	Het
Man2b2	T	A	5: 36,809,041	D936V	probably damaging	Het
Mapk1ip1	G	A	7: 138,836,588	R38*	probably null	Het
Med13l	T	C	5: 118,721,486	V246A	possibly damaging	Het
Mlec	T	A	5: 115,148,049	T248S	probably benign	Het
Mslnl	T	A	17: 25,737,902	V54D	possibly damaging	Het
Muc16	G	A	9: 18,657,212	T1337I	unknown	Het
Nek7	C	T	1: 138,515,654	S187N	probably damaging	Het
Neto2	A	G	8: 85,640,585	V538A	probably benign	Het
Nktr	T	C	9: 121,750,136		probably benign	Het
Npy6r	A	G	18: 44,276,492	K327E	probably damaging	Het
Olfr1230	T	A	2: 89,297,024	D82V	probably damaging	Het
Olfr1245	T	C	2: 89,575,672	D18G	probably benign	Het
Olfr1463	A	T	19: 13,234,525	I92F	probably benign	Het
Olfr402	A	G	11: 74,155,570	M139V	possibly damaging	Het
Olfr705	A	G	7: 106,873,582	I221T	probably damaging	Het
Pcdhga4	A	T	18: 37,687,425	N676Y	probably damaging	Het
Pde2a	T	C	7: 101,502,879	I331T	possibly damaging	Het
Pip5k1b	A	T	19: 24,304,035	Y486*	probably null	Het
Plch2	A	G	4: 155,000,818	M272T	probably benign	Het
Rbm12	G	A	2: 156,097,726		probably benign	Het
Rgs19	T	C	2: 181,689,507	E111G	probably damaging	Het
Rhbdf1	T	C	11: 32,210,066	N145S	probably damaging	Het
Rnf4	T	A	5: 34,351,221		probably null	Het
Rpa1	T	C	11: 75,314,911	T207A	probably damaging	Het
Rufy4	A	C	1: 74,129,397	Q113P	probably damaging	Het
Sh3pxd2b	T	G	11: 32,422,985	S717R	probably benign	Het
Sin3a	A	T	9: 57,107,540	I682F	probably damaging	Het
Sipa1l2	A	T	8: 125,468,473	V842E	possibly damaging	Het
Slc5a4a	A	G	10: 76,147,597	I23V	unknown	Het
Slitrk5	A	G	14: 111,681,725	N927S	probably benign	Het
Smc6	A	G	12: 11,276,353	K117R	possibly damaging	Het
Sod2	G	A	17: 13,008,031		probably benign	Het
Stxbp1	A	G	2: 32,796,018	I567T	possibly damaging	Het
Tbkbp1	C	A	11: 97,147,380	L209F	probably damaging	Het
Tll1	G	T	8: 64,038,586		probably null	Het
Tmem38b	T	C	4: 53,840,765	L60S	probably damaging	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Trim30b	A	G	7: 104,366,142	V13A	probably damaging	Het
Trip11	G	A	12: 101,889,742	T425I	probably benign	Het
Ttn	C	A	2: 76,889,973		probably benign	Het
Tymp	GC	GCC	15: 89,374,364		probably null	Het
Ush2a	T	A	1: 188,267,023	S177T	probably damaging	Het
Usp40	A	T	1: 87,978,559	S651R	probably benign	Het
Vmn1r125	T	C	7: 21,272,719	S181P	probably damaging	Het
Vmn1r198	T	A	13: 22,354,758	V138D	possibly damaging	Het
Vmn1r56	A	G	7: 5,196,318	L100P	probably damaging	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r53	A	C	7: 12,581,881	H670Q	probably benign	Het
Vmn2r69	A	T	7: 85,406,503	I809N	probably damaging	Het
Wdr7	G	A	18: 63,728,469	G184D	probably damaging	Het
Wnk1	C	T	6: 120,037,601	G11D	probably damaging	Het
Zfp110	A	C	7: 12,844,675	E171A	possibly damaging	Het
Zkscan6	T	C	11: 65,815,931	V134A	probably damaging	Het

Other mutations in Ahnak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Ahnak2	APN	12	112785285	missense	possibly damaging	0.79
IGL02994:Ahnak2	APN	12	112786207	missense	probably damaging	0.99
PIT4480001:Ahnak2	UTSW	12	112773924	missense	possibly damaging	0.79
PIT4810001:Ahnak2	UTSW	12	112785594	missense
R0025:Ahnak2	UTSW	12	112785534	missense	probably damaging	0.99
R0025:Ahnak2	UTSW	12	112785534	missense	probably damaging	0.99
R0038:Ahnak2	UTSW	12	112774462	missense	probably benign	0.00
R0125:Ahnak2	UTSW	12	112785156	missense	probably benign	0.41
R1173:Ahnak2	UTSW	12	112785789	missense	probably damaging	1.00
R1494:Ahnak2	UTSW	12	112787950	missense	probably damaging	1.00
R1712:Ahnak2	UTSW	12	112785378	missense	probably benign	0.05
R1888:Ahnak2	UTSW	12	112773891	missense	possibly damaging	0.49
R1888:Ahnak2	UTSW	12	112773891	missense	possibly damaging	0.49
R2042:Ahnak2	UTSW	12	112785819	missense	probably damaging	0.98
R2056:Ahnak2	UTSW	12	112785006	missense	probably benign	0.00
R2417:Ahnak2	UTSW	12	112775371	missense	probably damaging	1.00
R2762:Ahnak2	UTSW	12	112785364	missense	probably damaging	0.96
R3618:Ahnak2	UTSW	12	112786222	missense	probably damaging	1.00
R3706:Ahnak2	UTSW	12	112773651	missense	possibly damaging	0.74
R3739:Ahnak2	UTSW	12	112774558	missense	probably benign	0.05
R3950:Ahnak2	UTSW	12	112785789	missense	probably damaging	1.00
R4485:Ahnak2	UTSW	12	112779767	unclassified	probably benign
R4651:Ahnak2	UTSW	12	112774837	missense	possibly damaging	0.93
R4652:Ahnak2	UTSW	12	112774837	missense	possibly damaging	0.93
R4831:Ahnak2	UTSW	12	112775749	missense	probably damaging	0.99
R4836:Ahnak2	UTSW	12	112774116	missense	probably damaging	1.00
R4837:Ahnak2	UTSW	12	112785739	missense	probably benign	0.00
R4864:Ahnak2	UTSW	12	112773606	missense	probably damaging	0.98
R4908:Ahnak2	UTSW	12	112775272	missense	probably benign	0.00
R5067:Ahnak2	UTSW	12	112785316	missense	probably benign	0.01
R5146:Ahnak2	UTSW	12	112775726	missense	probably benign	0.00
R5228:Ahnak2	UTSW	12	112775386	missense	probably benign	0.03
R5255:Ahnak2	UTSW	12	112773378	missense	possibly damaging	0.92
R5323:Ahnak2	UTSW	12	112779812	unclassified	probably benign
R5523:Ahnak2	UTSW	12	112775208	missense	probably damaging	1.00
R5733:Ahnak2	UTSW	12	112775666	nonsense	probably null
R5799:Ahnak2	UTSW	12	112778930	unclassified	probably benign
R5817:Ahnak2	UTSW	12	112774003	missense	probably damaging	1.00
R5835:Ahnak2	UTSW	12	112775796	missense	possibly damaging	0.66
R6083:Ahnak2	UTSW	12	112782612	missense	probably benign	0.06
R6167:Ahnak2	UTSW	12	112783122	missense	probably benign	0.03
R6168:Ahnak2	UTSW	12	112783122	missense	probably benign	0.03
R6405:Ahnak2	UTSW	12	112773337	missense	probably damaging	1.00
R6460:Ahnak2	UTSW	12	112786990	missense	probably null	0.27
R6495:Ahnak2	UTSW	12	112773714	missense	probably damaging	1.00
R6544:Ahnak2	UTSW	12	112780652	unclassified	probably benign
R6656:Ahnak2	UTSW	12	112785371	missense	probably benign	0.02
R6679:Ahnak2	UTSW	12	112772976	missense	probably damaging	1.00
R6723:Ahnak2	UTSW	12	112778793	missense	probably damaging	1.00
R6774:Ahnak2	UTSW	12	112773738	missense	possibly damaging	0.87
R6884:Ahnak2	UTSW	12	112775429	missense	possibly damaging	0.81
R6906:Ahnak2	UTSW	12	112785313	missense	probably benign	0.00
R6919:Ahnak2	UTSW	12	112774684	missense	possibly damaging	0.55
R7036:Ahnak2	UTSW	12	112778781	unclassified	probably benign
R7037:Ahnak2	UTSW	12	112774278	missense	probably damaging	0.99
R7064:Ahnak2	UTSW	12	112780742	unclassified	probably benign
R7072:Ahnak2	UTSW	12	112788166	missense
R7112:Ahnak2	UTSW	12	112783119	missense
R7268:Ahnak2	UTSW	12	112780802	missense
R7269:Ahnak2	UTSW	12	112780802	missense
R7270:Ahnak2	UTSW	12	112780802	missense
R7271:Ahnak2	UTSW	12	112780802	missense
R7444:Ahnak2	UTSW	12	112781208	missense
R7448:Ahnak2	UTSW	12	112782502	missense
R7488:Ahnak2	UTSW	12	112785021	missense
R7508:Ahnak2	UTSW	12	112774405	missense	possibly damaging	0.46
R7560:Ahnak2	UTSW	12	112779674	missense
R7611:Ahnak2	UTSW	12	112788129	missense
R7743:Ahnak2	UTSW	12	112784763	missense	not run
R7762:Ahnak2	UTSW	12	112775680	missense	probably benign	0.27
R7780:Ahnak2	UTSW	12	112782613	missense
R7930:Ahnak2	UTSW	12	112779125	missense
R7985:Ahnak2	UTSW	12	112778963	missense
R8114:Ahnak2	UTSW	12	112774729	missense	probably benign	0.05
R8122:Ahnak2	UTSW	12	112776076	missense	possibly damaging	0.83
R8240:Ahnak2	UTSW	12	112774648	missense	probably benign	0.03
R8289:Ahnak2	UTSW	12	112775808	missense	possibly damaging	0.46
R8315:Ahnak2	UTSW	12	112781133	missense
R8430:Ahnak2	UTSW	12	112774687	missense	possibly damaging	0.86
R8476:Ahnak2	UTSW	12	112782991	unclassified	probably benign
R8712:Ahnak2	UTSW	12	112786252	missense
R8712:Ahnak2	UTSW	12	112787089	missense
R8778:Ahnak2	UTSW	12	112783158	missense
R8830:Ahnak2	UTSW	12	112787036	missense
R9014:Ahnak2	UTSW	12	112773736	missense	possibly damaging	0.95
R9055:Ahnak2	UTSW	12	112774585	missense	possibly damaging	0.90
R9327:Ahnak2	UTSW	12	112784826	missense
R9386:Ahnak2	UTSW	12	112778993	missense
R9445:Ahnak2	UTSW	12	112781355	missense
R9462:Ahnak2	UTSW	12	112787035	missense
R9559:Ahnak2	UTSW	12	112786162	critical splice donor site	probably null
R9571:Ahnak2	UTSW	12	112776076	missense	possibly damaging	0.83
R9589:Ahnak2	UTSW	12	112782728	missense
R9664:Ahnak2	UTSW	12	112774929	missense	probably damaging	0.97
R9711:Ahnak2	UTSW	12	112773034	missense	possibly damaging	0.83
Z1177:Ahnak2	UTSW	12	112781199	missense

Predicted Primers

PCR Primer
(F):5'- TGAACTTGCTGTCTTTGGCC -3'
(R):5'- TTCAAGATGCCCTCCTTCGG -3'

Posted On

2017-07-14