Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Ahnak2'

641646

Institutional Source

Beutler Lab

Gene Symbol

Ahnak2

Ensembl Gene

ENSMUSG00000072812

Gene Name

AHNAK nucleoprotein 2

Synonyms

LOC382643

MMRRC Submission

067720-MU

Accession Numbers

Essential gene?

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

Stock #

R8315 (G1)

Quality Score

139.008

Status

Not validated

Chromosome

Chromosomal Location

112738631-112766278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 112745756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1698 (Q1698L)

Ref Sequence

ENSEMBL: ENSMUSP00000114522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124526] [ENSMUST00000128258]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114522
Gene: ENSMUSG00000072812
AA Change: Q1698L

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: ENSMUST00000128258

SMART Domains

Protein: ENSMUSP00000122404
Gene: ENSMUSG00000072812

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: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,460 (GRCm39)	E3511V	probably null	Het
Abca13	A	G	11: 9,535,502 (GRCm39)	T4709A	probably benign	Het
Aff1	G	T	5: 103,958,956 (GRCm39)	V342F	probably damaging	Het
Ajap1	G	T	4: 153,516,813 (GRCm39)	T176K	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Cct3	A	G	3: 88,220,564 (GRCm39)	T259A	probably benign	Het
Cdk8	C	T	5: 146,205,061 (GRCm39)	L21F	probably damaging	Het
Cimip4	T	C	15: 78,262,686 (GRCm39)	R262G	probably benign	Het
Csf2rb	G	A	15: 78,231,581 (GRCm39)	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,420,926 (GRCm39)		probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
Dcp2	T	C	18: 44,529,071 (GRCm39)	I62T	probably benign	Het
Dnaaf9	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,612,655 (GRCm39)		probably benign	Het
Dpp8	T	C	9: 64,988,133 (GRCm39)	*893Q	probably null	Het
Dpyd	A	T	3: 119,108,534 (GRCm39)	H859L	probably benign	Het
Dst	T	C	1: 34,323,501 (GRCm39)		probably null	Het
Dynlt2a2	A	G	17: 15,190,717 (GRCm39)	Y81H	probably damaging	Het
Egfr	A	G	11: 16,825,027 (GRCm39)	I456V	probably benign	Het
Elf3	A	G	1: 135,184,314 (GRCm39)	F185L	probably benign	Het
Emx1	A	G	6: 85,171,088 (GRCm39)	T164A	possibly damaging	Het
Fras1	G	A	5: 96,891,041 (GRCm39)	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937 (GRCm39)		probably null	Het
Gda	T	A	19: 21,394,435 (GRCm39)	T215S	probably benign	Het
Gm14443	C	T	2: 175,013,640 (GRCm39)		probably null	Het
Gpr152	C	T	19: 4,193,469 (GRCm39)	P337S	probably damaging	Het
H2-T10	A	G	17: 36,429,905 (GRCm39)	I296T	probably benign	Het
Hoxd11	G	A	2: 74,513,466 (GRCm39)	E244K	probably benign	Het
Inka1	C	A	9: 107,861,506 (GRCm39)	S270I	probably damaging	Het
Kazn	C	T	4: 141,869,002 (GRCm39)	D325N		Het
Lama2	T	C	10: 27,298,655 (GRCm39)	N147S	probably damaging	Het
Lamc1	A	T	1: 153,119,167 (GRCm39)	N817K	probably benign	Het
Met	T	C	6: 17,533,956 (GRCm39)	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,251,051 (GRCm39)	M1K	probably null	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or10ag2	C	A	2: 87,248,995 (GRCm39)	A201D	probably damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Or8c13	T	C	9: 38,091,505 (GRCm39)	T205A	probably benign	Het
Pbx2	A	G	17: 34,811,707 (GRCm39)	I60M	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pla2g4a	T	C	1: 149,761,965 (GRCm39)	N164S	probably benign	Het
Poln	A	G	5: 34,266,717 (GRCm39)	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,261,177 (GRCm39)	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705 (GRCm39)	F82V	probably damaging	Het
Prox2	A	G	12: 85,142,182 (GRCm39)	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063 (GRCm39)	I33K	possibly damaging	Het
Rad21l	A	T	2: 151,497,160 (GRCm39)	M318K	probably benign	Het
Rftn1	A	G	17: 50,309,665 (GRCm39)	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Rtp4	C	T	16: 23,431,998 (GRCm39)	P177S	possibly damaging	Het
Saa4	T	A	7: 46,379,052 (GRCm39)	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079 (GRCm39)	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,461,405 (GRCm39)	Y88S	probably damaging	Het
Tbccd1	A	G	16: 22,641,564 (GRCm39)	M312T	probably damaging	Het
Tecta	C	T	9: 42,299,121 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,044,428 (GRCm39)	C526*	probably null	Het
Tmem87a	C	T	2: 120,234,441 (GRCm39)	G34D	probably damaging	Het
Trav13d-1	C	A	14: 53,089,059 (GRCm39)	Q23K	probably benign	Het
Txndc11	G	T	16: 10,893,465 (GRCm39)	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,434,339 (GRCm39)	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,643,932 (GRCm39)	Y826F	possibly damaging	Het
Wdr90	A	T	17: 26,064,399 (GRCm39)	M1824K	probably benign	Het
Zfp523	G	A	17: 28,421,562 (GRCm39)	G440D	possibly 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
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'- ATCTTGAGGCTGGGCATCTG -3'
(R):5'- CAAGATGCCCAAGATGGACCTC -3'

Sequencing Primer
(F):5'- TGGGCATCTGCACCTTG -3'
(R):5'- CCCAAGATGGACCTCAAGGG -3'

Posted On

2020-07-28