Mutagenetix > Incidental Mutation

Incidental Mutation 'R8289:Ahnak2'

638597

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

067711-MU

Accession Numbers

Essential gene?

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

Stock #

R8289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112742242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 610 (V610A)

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: V610A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812
AA Change: V610A

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	C	11: 109,927,515 (GRCm39)		probably benign	Het
Adamts3	C	A	5: 89,923,282 (GRCm39)	D175Y	possibly damaging	Het
Adra1b	G	A	11: 43,726,315 (GRCm39)	P201S	probably damaging	Het
Ap5s1	A	C	2: 131,054,379 (GRCm39)	H62P	probably benign	Het
Apeh	A	G	9: 107,963,444 (GRCm39)	S593P	probably damaging	Het
Arhgap24	T	C	5: 103,028,692 (GRCm39)	V289A	possibly damaging	Het
Atoh1	A	G	6: 64,706,893 (GRCm39)	E196G	probably damaging	Het
Atp1b3	G	A	9: 96,215,602 (GRCm39)	S271L	probably benign	Het
Atp6v0a1	A	G	11: 100,924,931 (GRCm39)	R339G	probably damaging	Het
Calb2	T	C	8: 110,894,690 (GRCm39)	H27R	possibly damaging	Het
Camkk2	A	C	5: 122,894,689 (GRCm39)	L201R	probably damaging	Het
Car15	A	G	16: 17,654,580 (GRCm39)		probably null	Het
Cecr2	A	G	6: 120,735,077 (GRCm39)	N771S	probably benign	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Csmd1	T	A	8: 16,108,716 (GRCm39)	I1896F	probably damaging	Het
Cubn	C	T	2: 13,491,613 (GRCm39)	V145I	probably benign	Het
Cuedc1	G	A	11: 88,073,381 (GRCm39)	S182N	probably benign	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Cyp7a1	G	A	4: 6,268,295 (GRCm39)	P477S	probably damaging	Het
Dcaf17	T	A	2: 70,885,718 (GRCm39)	W16R		Het
Dhx8	T	A	11: 101,631,571 (GRCm39)	M388K	probably benign	Het
Dnah14	T	A	1: 181,543,780 (GRCm39)	Y2453*	probably null	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,360 (GRCm39)	E148K	probably benign	Het
Hectd4	A	G	5: 121,404,424 (GRCm39)	T434A	possibly damaging	Het
Ide	A	G	19: 37,290,952 (GRCm39)	L368P		Het
Ide	G	C	19: 37,290,953 (GRCm39)	L368V	probably null	Het
Ifi206	T	C	1: 173,308,032 (GRCm39)	I655V		Het
Insrr	A	G	3: 87,721,501 (GRCm39)	M1136V	probably damaging	Het
Kcne2	A	G	16: 92,093,707 (GRCm39)	E78G	probably damaging	Het
Lrrc23	A	T	6: 124,755,267 (GRCm39)	L90H	probably damaging	Het
Magel2	A	C	7: 62,028,875 (GRCm39)	Q593P	unknown	Het
Mrgpra3	G	A	7: 47,239,468 (GRCm39)	H153Y	possibly damaging	Het
Msln	A	G	17: 25,967,880 (GRCm39)	V595A	possibly damaging	Het
Mvb12a	T	C	8: 71,995,703 (GRCm39)		probably null	Het
Myo7a	T	G	7: 97,726,376 (GRCm39)	M966L	probably benign	Het
Ncoa5	C	T	2: 164,854,982 (GRCm39)	D47N	possibly damaging	Het
Neurl4	T	A	11: 69,800,206 (GRCm39)		probably null	Het
Or1e29	T	A	11: 73,667,839 (GRCm39)	M105L	probably benign	Het
Or4d1	T	C	11: 87,805,589 (GRCm39)	T48A	probably benign	Het
Or5p75-ps1	T	A	7: 108,108,125 (GRCm39)	H287Q	unknown	Het
Or8b37	T	A	9: 37,959,000 (GRCm39)	C161S	probably benign	Het
Osbpl7	T	A	11: 96,947,405 (GRCm39)	S480T	probably benign	Het
Podnl1	T	C	8: 84,858,552 (GRCm39)	L484P		Het
Polr3gl	G	T	3: 96,489,228 (GRCm39)		probably benign	Het
Prkaa1	G	T	15: 5,206,563 (GRCm39)	V438L	possibly damaging	Het
Prune2	A	T	19: 17,100,373 (GRCm39)	H1959L	probably benign	Het
Rad50	A	T	11: 53,589,685 (GRCm39)	L172*	probably null	Het
Samsn1	C	A	16: 75,685,684 (GRCm39)	G25W	probably damaging	Het
Sbno1	T	G	5: 124,542,068 (GRCm39)	L362F	probably damaging	Het
Slc26a6	G	A	9: 108,733,230 (GRCm39)	R43H	probably benign	Het
Slc35f5	T	G	1: 125,490,252 (GRCm39)	Y49*	probably null	Het
Slc41a2	T	C	10: 83,137,044 (GRCm39)	I288V	probably benign	Het
Slc9c1	A	G	16: 45,403,344 (GRCm39)	M804V	probably benign	Het
Smc6	T	A	12: 11,324,052 (GRCm39)	S66T	probably benign	Het
Ssh1	T	C	5: 114,080,445 (GRCm39)	D995G	probably benign	Het
Stk11	G	T	10: 79,961,740 (GRCm39)		probably benign	Het
Sycp1	A	G	3: 102,748,353 (GRCm39)	I813T	probably benign	Het
Tmem121b	A	T	6: 120,469,722 (GRCm39)	S332T	possibly damaging	Het
Treml4	A	C	17: 48,581,456 (GRCm39)	I244L	probably benign	Het
Unc13b	T	A	4: 43,172,524 (GRCm39)	C1117*	probably null	Het
Wdr35	A	G	12: 9,058,020 (GRCm39)	I526V	probably benign	Het
Zap70	T	C	1: 36,820,218 (GRCm39)	W500R	probably damaging	Het
Zfr	G	T	15: 12,135,357 (GRCm39)	V49F	noncoding transcript	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
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
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'- GATTCGTGTGGAGAGTCAACAATAC -3'
(R):5'- TTCAAGATGCCCTCCTTCGG -3'

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

Posted On

2020-07-28