Mutagenetix > Incidental Mutation

Incidental Mutation 'R6544:Ahnak2'

521045

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

044670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6544 (G1)

Quality Score

143.008

Status

Not validated

Chromosome

Chromosomal Location

112772194-112802657 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 112780652 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122404 (fasta)

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

unknown
Transcript: ENSMUST00000137195
AA Change: V120A

SMART Domains

Protein: ENSMUSP00000116582
Gene: ENSMUSG00000072812
AA Change: V120A

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: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005K14Rik	T	A	1: 83,058,957	K118*	probably null	Het
Actr2	A	G	11: 20,100,933	F17L	probably damaging	Het
Adam26b	T	C	8: 43,521,781	I61M	probably damaging	Het
Angptl3	T	C	4: 99,031,438	L145P	probably damaging	Het
Ank2	T	C	3: 126,933,222	T808A	probably damaging	Het
Cadm3	A	G	1: 173,367,411		probably null	Het
Cog7	C	T	7: 121,935,743	R573Q	probably damaging	Het
Dchs1	T	A	7: 105,758,178	I2110F	probably damaging	Het
Fbxo47	G	A	11: 97,856,263	R326C	probably damaging	Het
Frmpd1	A	T	4: 45,279,024	D583V	probably damaging	Het
Gigyf1	T	A	5: 137,525,059	L911Q	probably damaging	Het
Gm35339	T	C	15: 76,358,278	Y823H	probably benign	Het
Gm4737	A	C	16: 46,154,784	S77A	probably benign	Het
Gprin1	G	A	13: 54,740,311	A50V	possibly damaging	Het
Grik4	A	T	9: 42,547,728	Y571*	probably null	Het
Gucy2e	A	G	11: 69,235,657	V299A	probably benign	Het
Hectd2	C	T	19: 36,612,328	L618F	probably damaging	Het
Lactbl1	A	T	4: 136,632,989	I160F	possibly damaging	Het
Lats1	T	A	10: 7,701,670	V186D	possibly damaging	Het
Lmtk2	A	G	5: 144,173,806	H448R	possibly damaging	Het
Map10	T	C	8: 125,671,374	I502T	probably benign	Het
Mok	A	G	12: 110,810,755	F239S	probably damaging	Het
Mprip	G	A	11: 59,757,726	G752D	probably benign	Het
Naip5	C	A	13: 100,223,144	G528V	possibly damaging	Het
Neu2	T	C	1: 87,596,742	W150R	probably damaging	Het
Olfr1111	T	A	2: 87,149,863	Y266F	probably damaging	Het
Olfr1156	T	A	2: 87,949,991	M81L	probably benign	Het
Olfr1434	T	C	19: 12,283,155	Y36H	probably damaging	Het
Olfr356	T	A	2: 36,937,527	M136K	possibly damaging	Het
Pip5k1c	T	A	10: 81,308,996	Y224N	probably damaging	Het
Plch1	T	C	3: 63,850,978	E5G	probably damaging	Het
Pspc1	T	C	14: 56,764,203	*59W	probably null	Het
Ptprq	T	C	10: 107,608,241	T1501A	probably damaging	Het
Rnf165	T	A	18: 77,563,235		probably benign	Het
Rorb	G	T	19: 18,952,250	P304T	possibly damaging	Het
Scn7a	A	T	2: 66,684,100	L1110Q	probably damaging	Het
Serpine2	C	T	1: 79,803,130		probably null	Het
Slco1c1	A	G	6: 141,531,444		probably null	Het
Smarca2	T	A	19: 26,630,931	V130D	probably damaging	Het
Sox17	G	T	1: 4,492,432	P117T	possibly damaging	Het
Sparcl1	A	T	5: 104,092,444	Y371*	probably null	Het
Tdpoz2	T	C	3: 93,651,960	D235G	possibly damaging	Het
Tns2	A	C	15: 102,113,834	K1182N	possibly damaging	Het
Tpte	G	T	8: 22,315,105		probably null	Het
Ttn	A	T	2: 76,969,159	I459K	possibly damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp455	C	A	13: 67,207,057	L130I	probably benign	Het
Zfp777	A	T	6: 48,044,485	S68T	probably damaging	Het

Other mutations in Ahnak2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02257:Ahnak2	APN	12	112,785,285 (GRCm38)	missense	possibly damaging	0.79
IGL02994:Ahnak2	APN	12	112,786,207 (GRCm38)	missense	probably damaging	0.99
PIT4480001:Ahnak2	UTSW	12	112,773,924 (GRCm38)	missense	possibly damaging	0.79
PIT4810001:Ahnak2	UTSW	12	112,785,594 (GRCm38)	missense
R0025:Ahnak2	UTSW	12	112,785,534 (GRCm38)	missense	probably damaging	0.99
R0025:Ahnak2	UTSW	12	112,785,534 (GRCm38)	missense	probably damaging	0.99
R0038:Ahnak2	UTSW	12	112,774,462 (GRCm38)	missense	probably benign	0.00
R0125:Ahnak2	UTSW	12	112,785,156 (GRCm38)	missense	probably benign	0.41
R1173:Ahnak2	UTSW	12	112,785,789 (GRCm38)	missense	probably damaging	1.00
R1494:Ahnak2	UTSW	12	112,787,950 (GRCm38)	missense	probably damaging	1.00
R1712:Ahnak2	UTSW	12	112,785,378 (GRCm38)	missense	probably benign	0.05
R1888:Ahnak2	UTSW	12	112,773,891 (GRCm38)	missense	possibly damaging	0.49
R1888:Ahnak2	UTSW	12	112,773,891 (GRCm38)	missense	possibly damaging	0.49
R2042:Ahnak2	UTSW	12	112,785,819 (GRCm38)	missense	probably damaging	0.98
R2056:Ahnak2	UTSW	12	112,785,006 (GRCm38)	missense	probably benign	0.00
R2417:Ahnak2	UTSW	12	112,775,371 (GRCm38)	missense	probably damaging	1.00
R2762:Ahnak2	UTSW	12	112,785,364 (GRCm38)	missense	probably damaging	0.96
R3618:Ahnak2	UTSW	12	112,786,222 (GRCm38)	missense	probably damaging	1.00
R3706:Ahnak2	UTSW	12	112,773,651 (GRCm38)	missense	possibly damaging	0.74
R3739:Ahnak2	UTSW	12	112,774,558 (GRCm38)	missense	probably benign	0.05
R3950:Ahnak2	UTSW	12	112,785,789 (GRCm38)	missense	probably damaging	1.00
R4485:Ahnak2	UTSW	12	112,779,767 (GRCm38)	unclassified	probably benign
R4651:Ahnak2	UTSW	12	112,774,837 (GRCm38)	missense	possibly damaging	0.93
R4652:Ahnak2	UTSW	12	112,774,837 (GRCm38)	missense	possibly damaging	0.93
R4831:Ahnak2	UTSW	12	112,775,749 (GRCm38)	missense	probably damaging	0.99
R4836:Ahnak2	UTSW	12	112,774,116 (GRCm38)	missense	probably damaging	1.00
R4837:Ahnak2	UTSW	12	112,785,739 (GRCm38)	missense	probably benign	0.00
R4864:Ahnak2	UTSW	12	112,773,606 (GRCm38)	missense	probably damaging	0.98
R4908:Ahnak2	UTSW	12	112,775,272 (GRCm38)	missense	probably benign	0.00
R5067:Ahnak2	UTSW	12	112,785,316 (GRCm38)	missense	probably benign	0.01
R5146:Ahnak2	UTSW	12	112,775,726 (GRCm38)	missense	probably benign	0.00
R5228:Ahnak2	UTSW	12	112,775,386 (GRCm38)	missense	probably benign	0.03
R5255:Ahnak2	UTSW	12	112,773,378 (GRCm38)	missense	possibly damaging	0.92
R5323:Ahnak2	UTSW	12	112,779,812 (GRCm38)	unclassified	probably benign
R5523:Ahnak2	UTSW	12	112,775,208 (GRCm38)	missense	probably damaging	1.00
R5733:Ahnak2	UTSW	12	112,775,666 (GRCm38)	nonsense	probably null
R5799:Ahnak2	UTSW	12	112,778,930 (GRCm38)	unclassified	probably benign
R5817:Ahnak2	UTSW	12	112,774,003 (GRCm38)	missense	probably damaging	1.00
R5835:Ahnak2	UTSW	12	112,775,796 (GRCm38)	missense	possibly damaging	0.66
R6083:Ahnak2	UTSW	12	112,782,999 (GRCm38)	missense	probably benign	0.01
R6083:Ahnak2	UTSW	12	112,782,612 (GRCm38)	missense	probably benign	0.06
R6167:Ahnak2	UTSW	12	112,783,122 (GRCm38)	missense	probably benign	0.03
R6168:Ahnak2	UTSW	12	112,783,122 (GRCm38)	missense	probably benign	0.03
R6405:Ahnak2	UTSW	12	112,773,337 (GRCm38)	missense	probably damaging	1.00
R6460:Ahnak2	UTSW	12	112,786,990 (GRCm38)	missense	probably null	0.27
R6495:Ahnak2	UTSW	12	112,773,714 (GRCm38)	missense	probably damaging	1.00
R6656:Ahnak2	UTSW	12	112,785,371 (GRCm38)	missense	probably benign	0.02
R6679:Ahnak2	UTSW	12	112,772,976 (GRCm38)	missense	probably damaging	1.00
R6723:Ahnak2	UTSW	12	112,778,793 (GRCm38)	missense	probably damaging	1.00
R6774:Ahnak2	UTSW	12	112,773,738 (GRCm38)	missense	possibly damaging	0.87
R6884:Ahnak2	UTSW	12	112,775,429 (GRCm38)	missense	possibly damaging	0.81
R6906:Ahnak2	UTSW	12	112,785,313 (GRCm38)	missense	probably benign	0.00
R6919:Ahnak2	UTSW	12	112,774,684 (GRCm38)	missense	possibly damaging	0.55
R7036:Ahnak2	UTSW	12	112,778,781 (GRCm38)	unclassified	probably benign
R7037:Ahnak2	UTSW	12	112,774,278 (GRCm38)	missense	probably damaging	0.99
R7064:Ahnak2	UTSW	12	112,780,742 (GRCm38)	unclassified	probably benign
R7072:Ahnak2	UTSW	12	112,788,166 (GRCm38)	missense
R7112:Ahnak2	UTSW	12	112,783,119 (GRCm38)	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	112,781,208 (GRCm38)	missense
R7448:Ahnak2	UTSW	12	112,782,502 (GRCm38)	missense
R7488:Ahnak2	UTSW	12	112,785,021 (GRCm38)	missense
R7508:Ahnak2	UTSW	12	112,774,405 (GRCm38)	missense	possibly damaging	0.46
R7560:Ahnak2	UTSW	12	112,779,674 (GRCm38)	missense
R7611:Ahnak2	UTSW	12	112,788,129 (GRCm38)	missense
R7743:Ahnak2	UTSW	12	112,784,763 (GRCm38)	missense	not run
R7762:Ahnak2	UTSW	12	112,775,680 (GRCm38)	missense	probably benign	0.27
R7780:Ahnak2	UTSW	12	112,782,613 (GRCm38)	missense
R7930:Ahnak2	UTSW	12	112,779,125 (GRCm38)	missense
R7985:Ahnak2	UTSW	12	112,778,963 (GRCm38)	missense
R8114:Ahnak2	UTSW	12	112,774,729 (GRCm38)	missense	probably benign	0.05
R8122:Ahnak2	UTSW	12	112,776,076 (GRCm38)	missense	possibly damaging	0.83
R8240:Ahnak2	UTSW	12	112,774,648 (GRCm38)	missense	probably benign	0.03
R8289:Ahnak2	UTSW	12	112,775,808 (GRCm38)	missense	possibly damaging	0.46
R8315:Ahnak2	UTSW	12	112,781,133 (GRCm38)	missense
R8430:Ahnak2	UTSW	12	112,774,687 (GRCm38)	missense	possibly damaging	0.86
R8476:Ahnak2	UTSW	12	112,782,991 (GRCm38)	unclassified	probably benign
R8712:Ahnak2	UTSW	12	112,787,089 (GRCm38)	missense
R8712:Ahnak2	UTSW	12	112,786,252 (GRCm38)	missense
R8778:Ahnak2	UTSW	12	112,783,158 (GRCm38)	missense
R8830:Ahnak2	UTSW	12	112,787,036 (GRCm38)	missense
R9014:Ahnak2	UTSW	12	112,773,736 (GRCm38)	missense	possibly damaging	0.95
R9055:Ahnak2	UTSW	12	112,774,585 (GRCm38)	missense	possibly damaging	0.90
R9327:Ahnak2	UTSW	12	112,784,826 (GRCm38)	missense
R9386:Ahnak2	UTSW	12	112,778,993 (GRCm38)	missense
R9445:Ahnak2	UTSW	12	112,781,355 (GRCm38)	missense
R9462:Ahnak2	UTSW	12	112,787,035 (GRCm38)	missense
R9559:Ahnak2	UTSW	12	112,786,162 (GRCm38)	critical splice donor site	probably null
R9571:Ahnak2	UTSW	12	112,776,076 (GRCm38)	missense	possibly damaging	0.83
R9589:Ahnak2	UTSW	12	112,782,728 (GRCm38)	missense
R9664:Ahnak2	UTSW	12	112,774,929 (GRCm38)	missense	probably damaging	0.97
R9711:Ahnak2	UTSW	12	112,773,034 (GRCm38)	missense	possibly damaging	0.83
Z1177:Ahnak2	UTSW	12	112,781,199 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- AACTTGCTGTCTTTGGCCG -3'
(R):5'- AGATGCCCAGCCTCAAGATG -3'

Sequencing Primer
(F):5'- GTCCACCTTGGGCATCTTGAG -3'
(R):5'- CTCAAGATGCCCAAGGTGGAC -3'

Posted On

2018-06-06