Mutagenetix > Incidental Mutation

Incidental Mutation 'R6167:Ahnak2'

490211

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

044313-MU

Accession Numbers

Essential gene?

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

Stock #

R6167 (G1)

Quality Score

107.008

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112747750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1035 (E1035G)

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: E1035G

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: E1035G

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: 99.6%
10x: 98.1%
20x: 94.8%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,182,931 (GRCm39)	E1042V	probably benign	Het
Aip	T	G	19: 4,165,188 (GRCm39)	D227A	probably benign	Het
Ankrd13d	T	C	19: 4,323,081 (GRCm39)	H283R	probably damaging	Het
Aox4	C	T	1: 58,303,094 (GRCm39)	T1175I	probably damaging	Het
Atn1	T	C	6: 124,723,700 (GRCm39)		probably benign	Het
Camkk2	A	G	5: 122,902,187 (GRCm39)	S41P	probably damaging	Het
Ceacam16	G	A	7: 19,595,182 (GRCm39)		probably benign	Het
Dcaf15	T	C	8: 84,824,626 (GRCm39)	N524D	possibly damaging	Het
Dcaf7	A	T	11: 105,928,077 (GRCm39)	Y43F	probably damaging	Het
Epha3	T	C	16: 63,433,287 (GRCm39)	I453V	probably benign	Het
Etv1	A	T	12: 38,915,640 (GRCm39)	T413S	possibly damaging	Het
Evx2	A	C	2: 74,489,606 (GRCm39)	L53R	probably damaging	Het
Fam168b	G	A	1: 34,858,684 (GRCm39)	A166V	probably damaging	Het
Fancm	A	T	12: 65,141,669 (GRCm39)	Y430F	probably benign	Het
Fyb2	A	G	4: 104,802,661 (GRCm39)	T188A	possibly damaging	Het
Gabbr1	T	C	17: 37,374,271 (GRCm39)	I538T	probably damaging	Het
Glyctk	T	A	9: 106,033,691 (GRCm39)	T208S	possibly damaging	Het
Golga7	T	C	8: 23,735,904 (GRCm39)	D114G	probably damaging	Het
Grip1	T	C	10: 119,733,702 (GRCm39)		probably null	Het
Gtf2f1	G	T	17: 57,311,161 (GRCm39)	S351R	probably damaging	Het
Hook2	T	C	8: 85,721,642 (GRCm39)	L300P	probably damaging	Het
Hsf4	A	G	8: 105,997,481 (GRCm39)	S45G	probably damaging	Het
Iars1	T	A	13: 49,876,190 (GRCm39)	M825K	probably damaging	Het
Kcnj2	A	G	11: 110,963,315 (GRCm39)	I236V	probably benign	Het
Large2	G	A	2: 92,197,433 (GRCm39)	T354I	probably benign	Het
Mak	C	A	13: 41,206,828 (GRCm39)	V101F	probably benign	Het
Mylk2	A	G	2: 152,757,673 (GRCm39)		probably null	Het
Myo18b	A	T	5: 113,020,373 (GRCm39)		probably null	Het
Neb	T	A	2: 52,037,249 (GRCm39)	H2955L	probably benign	Het
Neurl1a	G	C	19: 47,228,367 (GRCm39)	G71A	probably damaging	Het
Ogfrl1	A	T	1: 23,415,309 (GRCm39)	L142Q	probably damaging	Het
Or11g27	C	A	14: 50,771,612 (GRCm39)	H248N	probably damaging	Het
Or1e27-ps1	A	G	11: 73,556,160 (GRCm39)	T242A	probably damaging	Het
P3h4	C	A	11: 100,302,671 (GRCm39)	A322S	probably damaging	Het
Piwil2	A	C	14: 70,660,342 (GRCm39)		probably null	Het
Pkd2l2	A	G	18: 34,561,297 (GRCm39)	D435G	probably damaging	Het
Plekha6	A	G	1: 133,207,145 (GRCm39)	N567S	probably null	Het
Prss54	G	A	8: 96,286,173 (GRCm39)	P300L	possibly damaging	Het
Pxdn	G	A	12: 30,024,000 (GRCm39)	R67Q	probably damaging	Het
Rapgef3	C	A	15: 97,665,292 (GRCm39)		probably benign	Het
Sec24b	C	T	3: 129,782,550 (GRCm39)	G1147S	possibly damaging	Het
Sh2b3	A	T	5: 121,966,418 (GRCm39)		probably null	Het
Sh3glb1	A	T	3: 144,397,664 (GRCm39)	D358E	probably damaging	Het
Shmt2	C	T	10: 127,353,731 (GRCm39)	R478H	probably benign	Het
Slc1a6	A	G	10: 78,637,671 (GRCm39)	E399G	probably benign	Het
Slc22a23	T	A	13: 34,528,542 (GRCm39)	Y80F	probably damaging	Het
Slc25a19	A	G	11: 115,506,377 (GRCm39)	V272A	probably benign	Het
Stk32a	A	T	18: 43,446,474 (GRCm39)	D308V	probably damaging	Het
Tenm3	T	C	8: 48,707,657 (GRCm39)	I1698V	possibly damaging	Het
Thoc5	G	A	11: 4,865,497 (GRCm39)	V359M	probably benign	Het
Tmpo	C	T	10: 90,998,800 (GRCm39)	R329H	probably benign	Het
Trim8	T	C	19: 46,503,626 (GRCm39)	S393P	probably benign	Het
Vill	A	T	9: 118,895,932 (GRCm39)	Y103F	probably damaging	Het
Zfp948	T	G	17: 21,807,911 (GRCm39)	F368V	probably benign	Het
Zpld1	C	T	16: 55,053,962 (GRCm39)	E277K	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
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
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'- CTTGGGCATCTTGAACTTGCTG -3'
(R):5'- TCAAGATGCCCAAGGTGGAC -3'

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

Posted On

2017-10-10