Mutagenetix > Incidental Mutation

Incidental Mutation 'R6884:Ahnak2'

536861

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

044979-MU

Accession Numbers

Essential gene?

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

Stock #

R6884 (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 112741863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 736 (D736E)

Ref Sequence

ENSEMBL: ENSMUSP00000122404 (fasta)

Gene Model

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

possibly damaging
Transcript: ENSMUST00000128258
AA Change: D736E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: D736E

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

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	A	G	1: 74,323,407 (GRCm39)		probably benign	Het
Abca5	C	T	11: 110,220,043 (GRCm39)	V8M	probably damaging	Het
Brpf3	A	G	17: 29,050,324 (GRCm39)	D1072G	probably benign	Het
Cacna1i	C	T	15: 80,259,010 (GRCm39)	R1240C	probably damaging	Het
Ccdc40	A	T	11: 119,133,565 (GRCm39)	E568D	possibly damaging	Het
Col12a1	C	T	9: 79,547,091 (GRCm39)	G2247E	possibly damaging	Het
Dapk3	T	A	10: 81,027,588 (GRCm39)		probably null	Het
Dcaf13	T	C	15: 38,986,635 (GRCm39)	W136R	probably damaging	Het
Dip2a	C	A	10: 76,108,366 (GRCm39)		probably null	Het
Eif3c	T	C	7: 126,156,051 (GRCm39)	D473G	probably benign	Het
Erich2	G	A	2: 70,339,505 (GRCm39)	R20H	possibly damaging	Het
Gcnt7	T	C	2: 172,296,125 (GRCm39)	N233S	probably damaging	Het
Gdpd4	G	T	7: 97,621,382 (GRCm39)	L208F	probably damaging	Het
Gm10269	T	A	18: 20,815,932 (GRCm39)	Q30L	possibly damaging	Het
Gm7298	A	T	6: 121,737,480 (GRCm39)	I295F	possibly damaging	Het
Htr7	A	G	19: 35,941,779 (GRCm39)		probably null	Het
Ing1	A	G	8: 11,611,916 (GRCm39)	Y118C	probably damaging	Het
Krtap16-1	C	T	11: 99,877,284 (GRCm39)	W40*	probably null	Het
Krtap26-1	A	T	16: 88,444,467 (GRCm39)	D51E	probably damaging	Het
Lama5	G	A	2: 179,833,455 (GRCm39)	P1519L	probably damaging	Het
Lrp1	T	A	10: 127,394,986 (GRCm39)	Q2513L	probably benign	Het
Morf4l1	A	T	9: 89,976,532 (GRCm39)	N265K	probably damaging	Het
Mpp2	T	C	11: 101,952,904 (GRCm39)	D299G	probably benign	Het
Mtcl1	C	T	17: 66,745,197 (GRCm39)	G55R	probably damaging	Het
Myb	T	A	10: 21,028,431 (GRCm39)	K144I	probably damaging	Het
Myo18a	T	C	11: 77,709,875 (GRCm39)	I587T	possibly damaging	Het
Nr2c2	A	G	6: 92,135,374 (GRCm39)	S288G	probably benign	Het
Obscn	A	G	11: 58,969,128 (GRCm39)	Y2700H	probably damaging	Het
Or2z9	T	C	8: 72,854,345 (GRCm39)	V247A	probably benign	Het
Or6c3	T	A	10: 129,309,023 (GRCm39)	F154Y	probably damaging	Het
Pde6b	A	G	5: 108,536,574 (GRCm39)	D90G	probably damaging	Het
Pigo	A	G	4: 43,022,627 (GRCm39)	F315L	possibly damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Ret	T	C	6: 118,132,362 (GRCm39)	D1026G	probably damaging	Het
Rptn	A	T	3: 93,303,096 (GRCm39)	Q143L	probably benign	Het
Rubcnl	A	G	14: 75,272,910 (GRCm39)	E210G	probably benign	Het
Serpina1b	T	A	12: 103,698,712 (GRCm39)	T46S	probably benign	Het
Serpinb9e	A	T	13: 33,435,609 (GRCm39)	H14L	probably benign	Het
Shoc1	A	G	4: 59,059,652 (GRCm39)	S1003P	possibly damaging	Het
Slc25a25	A	C	2: 32,310,674 (GRCm39)	V168G	probably benign	Het
Slc35e1	T	C	8: 73,238,726 (GRCm39)	T261A	possibly damaging	Het
Spocd1	T	C	4: 129,849,197 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,995,514 (GRCm39)	Y178N	probably damaging	Het
Top1mt	C	T	15: 75,535,893 (GRCm39)	E470K	probably benign	Het
Traj42	T	C	14: 54,413,290 (GRCm39)		probably benign	Het
Tshr	T	C	12: 91,504,876 (GRCm39)	Y13H	probably damaging	Het
Uvssa	A	G	5: 33,566,461 (GRCm39)		probably null	Het
Vmn1r28	G	A	6: 58,242,633 (GRCm39)	V159I	probably benign	Het
Vmn2r73	T	A	7: 85,507,213 (GRCm39)	T700S	probably benign	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
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'- GTCTCCTGTGACTGAGAATCACC -3'
(R):5'- TTGTTGACTCTCCACACGAATC -3'

Sequencing Primer
(F):5'- CTGTGACTGAGAATCACCTGTAC -3'
(R):5'- TGTTGACTCTCCACACGAATCTCAAG -3'

Posted On

2018-10-18