Mutagenetix > Incidental Mutation

Incidental Mutation 'R7271:Ahnak2'

565315

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

045356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7271 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112780802 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 70 (V70E)

Gene Model

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

AlphaFold

no structure available at present

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: V70E

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: 99.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	C	T	10: 42,291,544 (GRCm39)		probably null	Het
Alpk3	A	G	7: 80,728,202 (GRCm39)	E444G	possibly damaging	Het
Amer2	T	A	14: 60,617,123 (GRCm39)	D439E	possibly damaging	Het
Ano6	A	G	15: 95,811,781 (GRCm39)	Y222C	probably damaging	Het
Atp4a	A	C	7: 30,421,944 (GRCm39)	K827Q	probably benign	Het
Atp9a	G	A	2: 168,576,047 (GRCm39)			Het
Casp7	T	A	19: 56,424,793 (GRCm39)	C171S	probably damaging	Het
Ccdc9b	T	A	2: 118,591,164 (GRCm39)		probably null	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdkl1	A	G	12: 69,795,585 (GRCm39)	L315S	probably benign	Het
Cfap91	A	G	16: 38,148,708 (GRCm39)	I240T	probably damaging	Het
Crybg1	G	T	10: 43,873,619 (GRCm39)	S1163*	probably null	Het
Csmd1	A	T	8: 17,077,295 (GRCm39)	W121R	probably damaging	Het
Cyyr1	A	T	16: 85,262,493 (GRCm39)	M88K	possibly damaging	Het
Dlc1	T	C	8: 37,049,954 (GRCm39)	Q587R	probably damaging	Het
Dock2	T	C	11: 34,223,750 (GRCm39)	E1128G	possibly damaging	Het
Dynap	T	A	18: 70,374,320 (GRCm39)	T69S	possibly damaging	Het
Esr1	T	C	10: 4,733,874 (GRCm39)	C225R	probably damaging	Het
Fbxo31	C	T	8: 122,305,503 (GRCm39)		probably benign	Het
Fndc11	G	A	2: 180,863,893 (GRCm39)	V233I	possibly damaging	Het
Fto	T	C	8: 92,211,818 (GRCm39)	F381S	probably damaging	Het
Gtf2ird1	A	G	5: 134,433,758 (GRCm39)	L223P	probably benign	Het
Ifi214	A	T	1: 173,357,042 (GRCm39)	H20Q	probably damaging	Het
Impa2	T	A	18: 67,439,806 (GRCm39)	I101N	probably damaging	Het
Kidins220	A	T	12: 25,061,570 (GRCm39)	T854S	probably benign	Het
Lamb1	T	A	12: 31,337,423 (GRCm39)	C385S	probably damaging	Het
Lrrc8c	A	G	5: 105,755,853 (GRCm39)	S543G	probably benign	Het
Manba	A	T	3: 135,248,137 (GRCm39)	Y342F	probably damaging	Het
Map3k1	T	C	13: 111,893,231 (GRCm39)	D758G	probably benign	Het
Mtor	G	T	4: 148,630,942 (GRCm39)	A2300S	possibly damaging	Het
Musk	T	A	4: 58,373,409 (GRCm39)	M793K	probably damaging	Het
Nup133	A	C	8: 124,649,153 (GRCm39)	I563S	probably benign	Het
Or10ab4	G	A	7: 107,654,423 (GRCm39)	R78Q	probably damaging	Het
Or10ag55-ps1	T	A	2: 87,114,725 (GRCm39)	N30K	probably benign	Het
Or4k77	A	G	2: 111,199,693 (GRCm39)	T239A	probably damaging	Het
Or8g21	A	T	9: 38,905,953 (GRCm39)	Y259*	probably null	Het
Pcdh12	C	A	18: 38,416,100 (GRCm39)	V342F	probably damaging	Het
Pcdhb4	T	A	18: 37,441,222 (GRCm39)	H177Q	possibly damaging	Het
Pcnx2	G	A	8: 126,613,690 (GRCm39)	A587V	probably benign	Het
Phkb	C	T	8: 86,770,418 (GRCm39)	P896S	probably damaging	Het
Prss36	A	G	7: 127,543,877 (GRCm39)	S165P	probably benign	Het
Prss43	A	G	9: 110,657,671 (GRCm39)	D190G	probably damaging	Het
Psmd14	T	C	2: 61,591,356 (GRCm39)	V53A	probably damaging	Het
Sel1l3	T	G	5: 53,273,704 (GRCm39)	H1054P	probably damaging	Het
Selenoh	T	C	2: 84,500,631 (GRCm39)	R70G	probably damaging	Het
Serpinb9d	A	G	13: 33,378,617 (GRCm39)	Q21R	probably benign	Het
Slc29a1	T	C	17: 45,899,288 (GRCm39)	E262G	probably benign	Het
Slc7a14	A	G	3: 31,278,384 (GRCm39)	L407P	probably damaging	Het
Smyd4	T	C	11: 75,281,325 (GRCm39)	V266A	possibly damaging	Het
Spata31d1a	T	A	13: 59,849,913 (GRCm39)	R738S	probably benign	Het
Speer4a2	G	A	5: 26,292,993 (GRCm39)	T67I	probably benign	Het
Srcin1	C	T	11: 97,442,715 (GRCm39)	G38S	probably damaging	Het
Stab2	A	T	10: 86,838,972 (GRCm39)		probably null	Het
Syde2	A	G	3: 145,726,031 (GRCm39)	N1308D	possibly damaging	Het
Trip11	A	T	12: 101,850,611 (GRCm39)	M1151K	probably damaging	Het
Ttll4	A	T	1: 74,727,820 (GRCm39)	I861F	possibly damaging	Het
Zfp319	G	A	8: 96,058,471 (GRCm39)		probably benign	Het
Zfp518b	T	C	5: 38,831,907 (GRCm39)	N33D	probably benign	Het
Zfp874a	T	A	13: 67,591,415 (GRCm39)	I90F	probably benign	Het
Zmiz2	G	T	11: 6,349,593 (GRCm39)	V412L	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
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
R7560:Ahnak2	UTSW	12	112,745,851 (GRCm39)	missense
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'- AACTTGCTGTCTTTGGCCG -3'
(R):5'- TCAAGATGCCCTCCTTTGG -3'

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

Posted On

2019-06-26