Mutagenetix > Incidental Mutation

Incidental Mutation 'R7560:Ahnak2'

585060

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

045626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7560 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 112745851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 446 (D446A)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101010] [ENSMUST00000124526] [ENSMUST00000128258]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000101010

SMART Domains

Protein: ENSMUSP00000098572
Gene: ENSMUSG00000072812

Domain	Start	End	E-Value	Type
low complexity region	5	14	N/A	INTRINSIC
low complexity region	364	375	N/A	INTRINSIC
low complexity region	545	564	N/A	INTRINSIC
low complexity region	717	733	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124526

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812

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: ENSMUST00000128258

SMART Domains

Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812

Domain	Start	End	E-Value	Type
low complexity region	5	66	N/A	INTRINSIC
internal_repeat_1	67	251	2.35e-83	PROSPERO
low complexity region	285	308	N/A	INTRINSIC
low complexity region	371	389	N/A	INTRINSIC
internal_repeat_1	413	597	2.35e-83	PROSPERO
low complexity region	734	756	N/A	INTRINSIC
low complexity region	811	820	N/A	INTRINSIC
low complexity region	1170	1181	N/A	INTRINSIC
low complexity region	1351	1370	N/A	INTRINSIC
low complexity region	1523	1539	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116582
Gene: ENSMUSG00000072812
AA Change: D446A

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (100/100)

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot12	A	G	13: 91,932,510 (GRCm39)	D502G	probably benign	Het
Adrb1	T	C	19: 56,711,120 (GRCm39)	V106A	probably damaging	Het
Ahcyl2	G	T	6: 29,886,139 (GRCm39)	G352W	probably damaging	Het
Arhgap42	T	C	9: 9,035,532 (GRCm39)	D270G	probably benign	Het
Atp2a1	A	G	7: 126,058,828 (GRCm39)	V129A	possibly damaging	Het
B9d2	G	A	7: 25,380,784 (GRCm39)		probably benign	Het
Bace1	A	T	9: 45,767,437 (GRCm39)	I207F	possibly damaging	Het
Blnk	T	A	19: 40,940,834 (GRCm39)	I190F	possibly damaging	Het
Bmp7	C	T	2: 172,781,757 (GRCm39)	E36K	possibly damaging	Het
Brsk2	A	G	7: 141,554,597 (GRCm39)	E654G	probably benign	Het
Cacna2d3	T	C	14: 28,780,378 (GRCm39)	H661R	probably benign	Het
Cdh4	T	C	2: 179,532,695 (GRCm39)	V719A	probably benign	Het
Cdkn2d	G	T	9: 21,200,540 (GRCm39)	P77H	probably damaging	Het
Chd3	A	G	11: 69,247,096 (GRCm39)	V1024A	probably damaging	Het
Chsy1	T	A	7: 65,820,992 (GRCm39)	M409K	possibly damaging	Het
Chsy1	T	C	7: 65,821,319 (GRCm39)	L518P	probably damaging	Het
Cic	G	A	7: 24,972,278 (GRCm39)	V670M	probably damaging	Het
Clock	A	T	5: 76,390,738 (GRCm39)		probably null	Het
Coro1a	C	A	7: 126,302,306 (GRCm39)	V14L	probably damaging	Het
Ctcfl	C	A	2: 172,960,199 (GRCm39)	C128F	probably damaging	Het
Cyb5b	A	G	8: 107,896,491 (GRCm39)	T71A	probably damaging	Het
Cyp2c40	C	G	19: 39,795,658 (GRCm39)	V174L	possibly damaging	Het
D630045J12Rik	T	A	6: 38,173,562 (GRCm39)	Q202L	possibly damaging	Het
Dgkz	T	C	2: 91,773,160 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,872,697 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,026,940 (GRCm39)	I695V	probably benign	Het
Dst	T	A	1: 34,221,532 (GRCm39)	S2445R	possibly damaging	Het
Elob	T	C	17: 24,043,950 (GRCm39)	D83G	probably benign	Het
Elp4	T	A	2: 105,624,933 (GRCm39)	D320V	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Etfdh	T	C	3: 79,530,886 (GRCm39)	Y45C	probably damaging	Het
Exph5	A	G	9: 53,287,073 (GRCm39)	I1385V	probably benign	Het
Fat3	A	T	9: 15,908,138 (GRCm39)	D2621E	probably damaging	Het
Fbxl6	G	T	15: 76,422,669 (GRCm39)	A83D	probably benign	Het
Fmo2	A	G	1: 162,716,318 (GRCm39)	Y90H	probably damaging	Het
Fzd4	T	A	7: 89,056,761 (GRCm39)	Y269*	probably null	Het
Grik5	T	A	7: 24,757,951 (GRCm39)	I377F	probably damaging	Het
Havcr2	C	A	11: 46,349,889 (GRCm39)	P137Q	probably damaging	Het
Hectd4	A	G	5: 121,392,405 (GRCm39)	N223S	possibly damaging	Het
Hmcn2	A	G	2: 31,347,185 (GRCm39)	S4792G	probably benign	Het
Hps3	T	G	3: 20,084,616 (GRCm39)	I191L	probably benign	Het
Ica1l	T	A	1: 60,049,369 (GRCm39)	K195*	probably null	Het
Idh2	TCCCAGGGCC	TCC	7: 79,748,079 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,311,315 (GRCm39)	D1170G	probably benign	Het
Igflr1	T	C	7: 30,266,776 (GRCm39)	F208S	possibly damaging	Het
Kcnma1	T	C	14: 23,580,310 (GRCm39)	T313A	probably benign	Het
Krt6a	T	A	15: 101,598,994 (GRCm39)	I524F	unknown	Het
Lce1d	G	T	3: 92,593,148 (GRCm39)	H88Q	unknown	Het
Lrmda	A	G	14: 22,878,770 (GRCm39)	E177G	probably benign	Het
Lrrn3	T	A	12: 41,502,712 (GRCm39)	N535I	possibly damaging	Het
Map2k4	T	A	11: 65,666,583 (GRCm39)	I40L	unknown	Het
Map7d1	A	G	4: 126,130,429 (GRCm39)	L459P	probably damaging	Het
Mipol1	A	T	12: 57,352,859 (GRCm39)	N66I	possibly damaging	Het
Mycn	A	C	12: 12,990,292 (GRCm39)	F35V	probably benign	Het
Mzt2	A	C	16: 15,680,669 (GRCm39)	M40R	possibly damaging	Het
N4bp2	T	G	5: 65,948,458 (GRCm39)	L363V	probably damaging	Het
Nfat5	T	A	8: 108,097,221 (GRCm39)	M1532K	probably benign	Het
Notch1	G	A	2: 26,350,177 (GRCm39)	T2321M	probably benign	Het
Nr1h4	T	C	10: 89,334,123 (GRCm39)	D89G	probably benign	Het
Nsun4	G	A	4: 115,908,691 (GRCm39)	T623I	possibly damaging	Het
Nup155	T	C	15: 8,184,531 (GRCm39)	S1309P	probably benign	Het
Or4e1	T	C	14: 52,700,851 (GRCm39)	N205S	probably damaging	Het
Or51f5	T	C	7: 102,430,889 (GRCm39)	S69P	probably damaging	Het
Or8h10	T	C	2: 86,809,122 (GRCm39)	Y6C	probably benign	Het
Pcsk5	A	G	19: 17,814,336 (GRCm39)	F61L	probably benign	Het
Phrf1	A	T	7: 140,811,138 (GRCm39)		probably null	Het
Pkd1	G	A	17: 24,792,605 (GRCm39)	E1431K	probably benign	Het
Pkd2	T	A	5: 104,628,219 (GRCm39)	I431N	probably damaging	Het
Plcb2	A	G	2: 118,546,124 (GRCm39)	L557P	probably damaging	Het
Poteg	A	G	8: 27,984,988 (GRCm39)	N449S	probably benign	Het
Ppargc1b	C	A	18: 61,445,281 (GRCm39)	G192W	probably damaging	Het
Rab13	T	C	3: 90,132,206 (GRCm39)	S178P	probably benign	Het
Ralgds	A	G	2: 28,437,607 (GRCm39)	D571G	probably damaging	Het
Ror2	A	G	13: 53,264,849 (GRCm39)	S748P	probably benign	Het
Sart1	A	T	19: 5,434,905 (GRCm39)	L167Q	probably damaging	Het
Septin12	A	G	16: 4,810,055 (GRCm39)	V160A	possibly damaging	Het
Sgo1	T	C	17: 53,986,295 (GRCm39)	S299G	probably benign	Het
Shoc1	T	C	4: 59,076,140 (GRCm39)	N601S	possibly damaging	Het
Slc35b4	T	A	6: 34,140,296 (GRCm39)	D152V	probably benign	Het
Spata31h1	T	C	10: 82,120,449 (GRCm39)	Y4187C	probably damaging	Het
Specc1	T	A	11: 62,019,235 (GRCm39)		probably null	Het
Synj1	G	A	16: 90,737,371 (GRCm39)	T1308I	probably benign	Het
Thap12	T	G	7: 98,359,438 (GRCm39)	L106V	probably damaging	Het
Togaram1	T	C	12: 65,057,916 (GRCm39)	M1501T	possibly damaging	Het
Top2a	G	T	11: 98,891,663 (GRCm39)	N1153K	probably benign	Het
Trpm5	A	G	7: 142,634,723 (GRCm39)	L658P	probably damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Vcf1	C	T	11: 113,554,215 (GRCm39)	G160D	probably damaging	Het
Vmn1r80	A	T	7: 11,927,750 (GRCm39)	I287F	probably damaging	Het
Vmn1r87	T	C	7: 12,865,745 (GRCm39)	S181G	probably damaging	Het
Vmn2r71	A	T	7: 85,273,115 (GRCm39)	H643L	probably benign	Het
Washc5	G	A	15: 59,238,041 (GRCm39)	R228C	probably damaging	Het
Wdr72	T	C	9: 74,117,408 (GRCm39)	S719P	probably damaging	Het
Xrcc3	G	T	12: 111,774,336 (GRCm39)	D164E	probably benign	Het
Zc2hc1b	G	A	10: 13,044,529 (GRCm39)	R45C	probably damaging	Het
Zfp335	A	G	2: 164,737,912 (GRCm39)	Y900H	probably damaging	Het
Zfp512b	G	A	2: 181,228,875 (GRCm39)	R697C	probably damaging	Het
Zfp60	T	C	7: 27,448,561 (GRCm39)	Y410H	probably damaging	Het
Zfp60	T	A	7: 27,448,696 (GRCm39)	C455S	probably damaging	Het
Zfp605	C	T	5: 110,275,157 (GRCm39)	Q92*	probably null	Het
Zfp64	C	T	2: 168,767,585 (GRCm39)	D676N	probably damaging	Het

Other mutations in Ahnak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Ahnak2	APN	12	112,748,905 (GRCm39)	missense	possibly damaging	0.79
IGL02994:Ahnak2	APN	12	112,749,827 (GRCm39)	missense	probably damaging	0.99
PIT4480001:Ahnak2	UTSW	12	112,740,358 (GRCm39)	missense	possibly damaging	0.79
PIT4810001:Ahnak2	UTSW	12	112,749,214 (GRCm39)	missense
R0025:Ahnak2	UTSW	12	112,749,154 (GRCm39)	missense	probably damaging	0.99
R0025:Ahnak2	UTSW	12	112,749,154 (GRCm39)	missense	probably damaging	0.99
R0038:Ahnak2	UTSW	12	112,740,896 (GRCm39)	missense	probably benign	0.00
R0125:Ahnak2	UTSW	12	112,748,776 (GRCm39)	missense	probably benign	0.41
R1173:Ahnak2	UTSW	12	112,749,409 (GRCm39)	missense	probably damaging	1.00
R1494:Ahnak2	UTSW	12	112,751,570 (GRCm39)	missense	probably damaging	1.00
R1712:Ahnak2	UTSW	12	112,748,998 (GRCm39)	missense	probably benign	0.05
R1888:Ahnak2	UTSW	12	112,740,325 (GRCm39)	missense	possibly damaging	0.49
R1888:Ahnak2	UTSW	12	112,740,325 (GRCm39)	missense	possibly damaging	0.49
R2042:Ahnak2	UTSW	12	112,749,439 (GRCm39)	missense	probably damaging	0.98
R2056:Ahnak2	UTSW	12	112,748,626 (GRCm39)	missense	probably benign	0.00
R2417:Ahnak2	UTSW	12	112,741,805 (GRCm39)	missense	probably damaging	1.00
R2762:Ahnak2	UTSW	12	112,748,984 (GRCm39)	missense	probably damaging	0.96
R3618:Ahnak2	UTSW	12	112,749,842 (GRCm39)	missense	probably damaging	1.00
R3706:Ahnak2	UTSW	12	112,740,085 (GRCm39)	missense	possibly damaging	0.74
R3739:Ahnak2	UTSW	12	112,740,992 (GRCm39)	missense	probably benign	0.05
R3950:Ahnak2	UTSW	12	112,749,409 (GRCm39)	missense	probably damaging	1.00
R4485:Ahnak2	UTSW	12	112,745,944 (GRCm39)	unclassified	probably benign
R4651:Ahnak2	UTSW	12	112,741,271 (GRCm39)	missense	possibly damaging	0.93
R4652:Ahnak2	UTSW	12	112,741,271 (GRCm39)	missense	possibly damaging	0.93
R4831:Ahnak2	UTSW	12	112,742,183 (GRCm39)	missense	probably damaging	0.99
R4836:Ahnak2	UTSW	12	112,740,550 (GRCm39)	missense	probably damaging	1.00
R4837:Ahnak2	UTSW	12	112,749,359 (GRCm39)	missense	probably benign	0.00
R4864:Ahnak2	UTSW	12	112,740,040 (GRCm39)	missense	probably damaging	0.98
R4908:Ahnak2	UTSW	12	112,741,706 (GRCm39)	missense	probably benign	0.00
R5067:Ahnak2	UTSW	12	112,748,936 (GRCm39)	missense	probably benign	0.01
R5146:Ahnak2	UTSW	12	112,742,160 (GRCm39)	missense	probably benign	0.00
R5228:Ahnak2	UTSW	12	112,741,820 (GRCm39)	missense	probably benign	0.03
R5255:Ahnak2	UTSW	12	112,739,812 (GRCm39)	missense	possibly damaging	0.92
R5323:Ahnak2	UTSW	12	112,745,989 (GRCm39)	unclassified	probably benign
R5523:Ahnak2	UTSW	12	112,741,642 (GRCm39)	missense	probably damaging	1.00
R5733:Ahnak2	UTSW	12	112,742,100 (GRCm39)	nonsense	probably null
R5799:Ahnak2	UTSW	12	112,745,365 (GRCm39)	unclassified	probably benign
R5817:Ahnak2	UTSW	12	112,740,437 (GRCm39)	missense	probably damaging	1.00
R5835:Ahnak2	UTSW	12	112,742,230 (GRCm39)	missense	possibly damaging	0.66
R6083:Ahnak2	UTSW	12	112,746,589 (GRCm39)	missense	probably benign	0.01
R6083:Ahnak2	UTSW	12	112,746,715 (GRCm39)	missense	probably benign	0.06
R6167:Ahnak2	UTSW	12	112,747,750 (GRCm39)	missense	probably benign	0.03
R6168:Ahnak2	UTSW	12	112,747,750 (GRCm39)	missense	probably benign	0.03
R6405:Ahnak2	UTSW	12	112,739,771 (GRCm39)	missense	probably damaging	1.00
R6460:Ahnak2	UTSW	12	112,750,610 (GRCm39)	missense	probably null	0.27
R6495:Ahnak2	UTSW	12	112,740,148 (GRCm39)	missense	probably damaging	1.00
R6544:Ahnak2	UTSW	12	112,746,829 (GRCm39)	unclassified	probably benign
R6656:Ahnak2	UTSW	12	112,748,991 (GRCm39)	missense	probably benign	0.02
R6679:Ahnak2	UTSW	12	112,739,410 (GRCm39)	missense	probably damaging	1.00
R6723:Ahnak2	UTSW	12	112,745,228 (GRCm39)	missense	probably damaging	1.00
R6774:Ahnak2	UTSW	12	112,740,172 (GRCm39)	missense	possibly damaging	0.87
R6884:Ahnak2	UTSW	12	112,741,863 (GRCm39)	missense	possibly damaging	0.81
R6906:Ahnak2	UTSW	12	112,748,933 (GRCm39)	missense	probably benign	0.00
R6919:Ahnak2	UTSW	12	112,741,118 (GRCm39)	missense	possibly damaging	0.55
R7036:Ahnak2	UTSW	12	112,745,216 (GRCm39)	unclassified	probably benign
R7037:Ahnak2	UTSW	12	112,740,712 (GRCm39)	missense	probably damaging	0.99
R7064:Ahnak2	UTSW	12	112,746,919 (GRCm39)	unclassified	probably benign
R7072:Ahnak2	UTSW	12	112,751,786 (GRCm39)	missense
R7112:Ahnak2	UTSW	12	112,747,747 (GRCm39)	missense
R7268:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7269:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7270:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7271:Ahnak2	UTSW	12	112,780,802 (GRCm38)	missense
R7444:Ahnak2	UTSW	12	112,745,831 (GRCm39)	missense
R7448:Ahnak2	UTSW	12	112,746,605 (GRCm39)	missense
R7488:Ahnak2	UTSW	12	112,748,641 (GRCm39)	missense
R7508:Ahnak2	UTSW	12	112,740,839 (GRCm39)	missense	possibly damaging	0.46
R7611:Ahnak2	UTSW	12	112,751,749 (GRCm39)	missense
R7743:Ahnak2	UTSW	12	112,748,383 (GRCm39)	missense	not run
R7762:Ahnak2	UTSW	12	112,742,114 (GRCm39)	missense	probably benign	0.27
R7780:Ahnak2	UTSW	12	112,746,716 (GRCm39)	missense
R7930:Ahnak2	UTSW	12	112,745,560 (GRCm39)	missense
R7985:Ahnak2	UTSW	12	112,745,398 (GRCm39)	missense
R8114:Ahnak2	UTSW	12	112,741,163 (GRCm39)	missense	probably benign	0.05
R8122:Ahnak2	UTSW	12	112,742,510 (GRCm39)	missense	possibly damaging	0.83
R8240:Ahnak2	UTSW	12	112,741,082 (GRCm39)	missense	probably benign	0.03
R8289:Ahnak2	UTSW	12	112,742,242 (GRCm39)	missense	possibly damaging	0.46
R8315:Ahnak2	UTSW	12	112,745,756 (GRCm39)	missense
R8430:Ahnak2	UTSW	12	112,741,121 (GRCm39)	missense	possibly damaging	0.86
R8476:Ahnak2	UTSW	12	112,747,100 (GRCm39)	unclassified	probably benign
R8712:Ahnak2	UTSW	12	112,750,709 (GRCm39)	missense
R8712:Ahnak2	UTSW	12	112,749,872 (GRCm39)	missense
R8778:Ahnak2	UTSW	12	112,783,158 (GRCm38)	missense
R8830:Ahnak2	UTSW	12	112,750,656 (GRCm39)	missense
R9014:Ahnak2	UTSW	12	112,740,170 (GRCm39)	missense	possibly damaging	0.95
R9055:Ahnak2	UTSW	12	112,741,019 (GRCm39)	missense	possibly damaging	0.90
R9327:Ahnak2	UTSW	12	112,748,446 (GRCm39)	missense
R9386:Ahnak2	UTSW	12	112,745,428 (GRCm39)	missense
R9445:Ahnak2	UTSW	12	112,745,978 (GRCm39)	missense
R9462:Ahnak2	UTSW	12	112,750,655 (GRCm39)	missense
R9559:Ahnak2	UTSW	12	112,749,782 (GRCm39)	critical splice donor site	probably null
R9571:Ahnak2	UTSW	12	112,742,510 (GRCm39)	missense	possibly damaging	0.83
R9589:Ahnak2	UTSW	12	112,746,831 (GRCm39)	missense
R9664:Ahnak2	UTSW	12	112,741,363 (GRCm39)	missense	probably damaging	0.97
R9711:Ahnak2	UTSW	12	112,739,468 (GRCm39)	missense	possibly damaging	0.83
Z1177:Ahnak2	UTSW	12	112,745,822 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- ACATTGAGCTCCAAGTCGG -3'
(R):5'- AGTTCAAGATGCCCTCCTTC -3'

Sequencing Primer
(F):5'- CTCAGGTCAGGGGTCTTCAG -3'
(R):5'- TGAAGACCCCTGACCTGAG -3'

Posted On

2019-10-17