Mutagenetix > Incidental Mutation

Incidental Mutation 'R9589:Ahnak2'

722940

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9589 (G1)

Quality Score

105.008

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 112746831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1166 (D1166E)

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: D1166E

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,760,093 (GRCm39)	D104G	possibly damaging	Het
C2cd3	T	A	7: 100,081,756 (GRCm39)	S1133T		Het
Ccdc17	A	G	4: 116,454,791 (GRCm39)	Q168R	probably benign	Het
Fn1	A	T	1: 71,668,941 (GRCm39)	I668N	probably damaging	Het
Fyb2	C	A	4: 104,872,833 (GRCm39)	N735K	probably damaging	Het
Gad1	T	C	2: 70,416,284 (GRCm39)	S248P	possibly damaging	Het
Gcnt1	G	A	19: 17,307,422 (GRCm39)	A101V	probably benign	Het
Herc1	T	A	9: 66,372,840 (GRCm39)	M3132K	possibly damaging	Het
Htra3	T	C	5: 35,821,409 (GRCm39)	I323V	probably damaging	Het
Ighv11-2	A	T	12: 114,012,047 (GRCm39)	V56D	probably damaging	Het
Itga8	C	T	2: 12,237,701 (GRCm39)	G340R	probably damaging	Het
Kcnk15	C	T	2: 163,700,127 (GRCm39)	T122M	probably damaging	Het
Kif13a	G	T	13: 46,956,020 (GRCm39)	Q658K	probably benign	Het
Kif13b	T	C	14: 65,013,759 (GRCm39)	I1303T	possibly damaging	Het
Kifc3	A	T	8: 95,861,372 (GRCm39)	S94R	possibly damaging	Het
Lrrc63	A	T	14: 75,322,379 (GRCm39)	F575Y	possibly damaging	Het
Map1a	T	C	2: 121,136,398 (GRCm39)	S2405P	probably damaging	Het
Map2	A	G	1: 66,449,753 (GRCm39)	T159A	probably benign	Het
Mgam	A	T	6: 40,727,519 (GRCm39)	I1315F	probably damaging	Het
Or51a39	T	C	7: 102,363,372 (GRCm39)	T83A	probably damaging	Het
Pah	T	A	10: 87,403,197 (GRCm39)	F191I	probably damaging	Het
Plekhh2	G	A	17: 84,854,918 (GRCm39)	D51N	possibly damaging	Het
Ppp4r2	C	T	6: 100,838,409 (GRCm39)	T109M	probably damaging	Het
Rfx7	T	C	9: 72,525,122 (GRCm39)	S771P	possibly damaging	Het
Sec11a	T	C	7: 80,565,899 (GRCm39)	*171W	probably null	Het
Secisbp2l	C	A	2: 125,589,425 (GRCm39)	V708L	probably benign	Het
Secisbp2l	T	G	2: 125,589,430 (GRCm39)	D706A	probably damaging	Het
Shpk	C	T	11: 73,104,267 (GRCm39)	P139S	possibly damaging	Het
Slc6a18	A	G	13: 73,816,323 (GRCm39)	L352P	possibly damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Smg9	T	G	7: 24,120,246 (GRCm39)	S407A	probably damaging	Het
Stmn4	A	G	14: 66,595,338 (GRCm39)	E121G	probably damaging	Het
Tmem237	G	A	1: 59,159,146 (GRCm39)	P10S	probably benign	Het
Vmn2r73	A	G	7: 85,519,659 (GRCm39)	I433T	probably benign	Het
Zfp28	T	A	7: 6,392,816 (GRCm39)	M164K	probably benign	Het
Zswim8	A	G	14: 20,763,171 (GRCm39)	M357V	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
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
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
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'- AGGTGGACCTCAAGGGGC -3'

Posted On

2022-08-09