Mutagenetix > Incidental Mutation

Incidental Mutation 'R7112:Ahnak2'

551581

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

045204-MU

Accession Numbers

Essential gene?

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

Stock #

R7112 (G1)

Quality Score

131.008

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112747747 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1036 (A1036E)

Ref Sequence

ENSEMBL: ENSMUSP00000114522 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: A1036E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baz2b	A	T	2: 59,792,528 (GRCm39)	H533Q	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,235 (GRCm39)	W193R	probably damaging	Het
Bcl2l12	C	T	7: 44,646,338 (GRCm39)	G24D	probably damaging	Het
Cacna1b	A	G	2: 24,580,773 (GRCm39)	V691A	probably damaging	Het
Cdh8	T	C	8: 99,922,984 (GRCm39)	D304G	probably damaging	Het
Ces3a	A	T	8: 105,784,594 (GRCm39)	Q525H	probably damaging	Het
Csmd1	C	A	8: 16,151,142 (GRCm39)	C1391F	probably damaging	Het
Cul7	G	T	17: 46,962,624 (GRCm39)	G85V	probably damaging	Het
Dnah8	G	A	17: 31,090,366 (GRCm39)	V4623I	possibly damaging	Het
Dnhd1	T	A	7: 105,363,192 (GRCm39)	L3918Q	probably damaging	Het
Exoc4	A	T	6: 33,898,423 (GRCm39)	N881Y	probably damaging	Het
Flt1	G	C	5: 147,540,379 (GRCm39)	A770G	probably damaging	Het
Fndc5	A	G	4: 129,035,915 (GRCm39)	N184S	probably benign	Het
Folh1	A	G	7: 86,424,845 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gba2	A	G	4: 43,568,453 (GRCm39)	V671A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Jph2	G	A	2: 163,217,704 (GRCm39)	T324M	probably damaging	Het
Kank4	A	G	4: 98,649,758 (GRCm39)	V937A	probably damaging	Het
Kdm3a	T	A	6: 71,609,154 (GRCm39)	E24D	probably benign	Het
Kidins220	T	A	12: 25,054,018 (GRCm39)	L464Q	probably damaging	Het
Loxhd1	T	A	18: 77,476,210 (GRCm39)	V1159E	probably damaging	Het
Malrd1	A	G	2: 15,929,987 (GRCm39)	N1498D	unknown	Het
Mplkipl1	T	G	19: 61,163,997 (GRCm39)	D146A	probably damaging	Het
Mrgprb5	C	T	7: 47,818,655 (GRCm39)	V27I	probably benign	Het
Mtfr2	A	G	10: 20,233,312 (GRCm39)	N294D	probably damaging	Het
Muc6	A	T	7: 141,235,542 (GRCm39)	L498H	probably damaging	Het
N4bp2	A	G	5: 65,948,050 (GRCm39)	T227A	possibly damaging	Het
Nin	C	T	12: 70,149,573 (GRCm39)	R12Q		Het
Obscn	G	C	11: 58,920,151 (GRCm39)	A27G		Het
Or11h7	T	A	14: 50,891,583 (GRCm39)	D296E	probably benign	Het
Or4k5	T	G	14: 50,385,392 (GRCm39)	E313A	probably benign	Het
Or52r1b	G	A	7: 102,690,862 (GRCm39)	D54N	probably damaging	Het
Or8b48	T	A	9: 38,493,330 (GRCm39)	Y252*	probably null	Het
Or8s5	T	A	15: 98,238,421 (GRCm39)	M150L	possibly damaging	Het
Polr2a	A	G	11: 69,626,135 (GRCm39)	S1672P	unknown	Het
Qprt	A	G	7: 126,707,361 (GRCm39)	V245A	probably damaging	Het
Rab11fip5	T	A	6: 85,325,176 (GRCm39)	E377V	probably damaging	Het
Rere	A	G	4: 150,491,061 (GRCm39)	T71A	probably benign	Het
Ret	A	T	6: 118,174,063 (GRCm39)	L11Q	possibly damaging	Het
Rp1	C	T	1: 4,419,241 (GRCm39)	V624I	probably benign	Het
Scaf8	T	A	17: 3,213,304 (GRCm39)	L131H	unknown	Het
Scgb2a2	A	G	19: 9,829,021 (GRCm39)	R58G	probably benign	Het
Scn11a	A	G	9: 119,583,875 (GRCm39)	I1580T	probably damaging	Het
Slco4c1	T	G	1: 96,768,866 (GRCm39)	K332T	probably damaging	Het
Sntg1	T	G	1: 8,518,289 (GRCm39)	Y368S	possibly damaging	Het
Stim1	A	G	7: 102,057,615 (GRCm39)	T143A	probably benign	Het
Tbr1	A	G	2: 61,642,160 (GRCm39)	D475G	probably benign	Het
Tcp1	A	G	17: 13,136,760 (GRCm39)	D47G	probably damaging	Het
Tpgs2	T	C	18: 25,282,194 (GRCm39)	D119G	probably damaging	Het
Trim40	C	A	17: 37,193,534 (GRCm39)	R225M	probably null	Het
Tro	GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	X: 149,428,852 (GRCm39)		probably benign	Het
Trpm1	A	T	7: 63,885,593 (GRCm39)	N870Y	probably damaging	Het
Tsr3	A	G	17: 25,459,445 (GRCm39)	D47G	probably benign	Het
Vil1	G	A	1: 74,455,161 (GRCm39)	G38R	probably damaging	Het
Vmn2r91	A	T	17: 18,325,880 (GRCm39)	Q166L	possibly damaging	Het
Wdr33	C	T	18: 32,026,056 (GRCm39)	T919I	unknown	Het
Wdr36	T	C	18: 32,972,504 (GRCm39)	V64A	probably benign	Het
Xpnpep1	T	C	19: 52,998,538 (GRCm39)	I237V	probably benign	Het
Zfp780b	A	T	7: 27,662,566 (GRCm39)	I663N	probably damaging	Het
Zfyve9	G	A	4: 108,507,519 (GRCm39)	A513V	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
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
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'- GAACTTGCTGTCTTTGGCCG -3'
(R):5'- AGATGCCCAGCCTCAAGATG -3'

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

Posted On

2019-05-15