Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Ankmy1'

302113

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92881023 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 721 (R721H)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112998] [ENSMUST00000160548]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112998
AA Change: R721H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: R721H

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
MORN	87	108	4.22e0	SMART
MORN	110	131	7.05e-5	SMART
MORN	155	176	7.15e1	SMART
ANK	378	407	4.32e-5	SMART
Blast:ANK	575	604	2e-10	BLAST
ANK	607	636	2.63e2	SMART
ANK	643	675	1.87e2	SMART
ANK	719	753	1.73e-4	SMART
ANK	756	785	6.92e-4	SMART
Blast:ANK	790	828	1e-12	BLAST
low complexity region	876	889	N/A	INTRINSIC
Pfam:zf-MYND	940	980	1.8e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160548
AA Change: R721H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: R721H

Domain	Start	End	E-Value	Type
low complexity region	51	68	N/A	INTRINSIC
MORN	87	108	4.22e0	SMART
MORN	110	131	7.05e-5	SMART
MORN	155	176	7.15e1	SMART
ANK	378	407	4.32e-5	SMART
Blast:ANK	575	604	2e-10	BLAST
ANK	607	636	2.63e2	SMART
ANK	643	675	1.87e2	SMART
ANK	719	753	1.73e-4	SMART
ANK	756	785	6.92e-4	SMART
Blast:ANK	790	828	1e-12	BLAST
low complexity region	876	889	N/A	INTRINSIC
Pfam:zf-MYND	941	981	2.3e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Synj1	G	T	16: 90,976,696	T459N	probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	Het

Other mutations in Ankmy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ankmy1	APN	1	92886266	missense	probably damaging	1.00
IGL01061:Ankmy1	APN	1	92870974	splice site	probably benign
IGL01960:Ankmy1	APN	1	92871663	splice site	probably benign
IGL01984:Ankmy1	APN	1	92883765	missense	probably damaging	0.99
IGL02193:Ankmy1	APN	1	92881045	missense	probably benign	0.03
IGL02536:Ankmy1	APN	1	92886188	missense	probably damaging	1.00
IGL02644:Ankmy1	APN	1	92885054	missense	probably benign	0.18
IGL02660:Ankmy1	APN	1	92896094	missense	probably damaging	1.00
IGL02808:Ankmy1	APN	1	92886666	missense	probably damaging	1.00
bali	UTSW	1	92871722	missense	probably damaging	1.00
timor	UTSW	1	92886281	missense	probably benign	0.02
PIT4687001:Ankmy1	UTSW	1	92885081	missense	probably benign	0.00
R0313:Ankmy1	UTSW	1	92886221	missense	probably damaging	1.00
R0373:Ankmy1	UTSW	1	92896190	missense	probably damaging	0.99
R0383:Ankmy1	UTSW	1	92885053	missense	probably benign	0.00
R0499:Ankmy1	UTSW	1	92886226	missense	probably damaging	1.00
R0562:Ankmy1	UTSW	1	92899691	splice site	probably benign
R0607:Ankmy1	UTSW	1	92888675	missense	probably damaging	1.00
R0739:Ankmy1	UTSW	1	92888648	missense	probably damaging	1.00
R0962:Ankmy1	UTSW	1	92899568	nonsense	probably null
R1192:Ankmy1	UTSW	1	92883894	missense	probably damaging	0.99
R1491:Ankmy1	UTSW	1	92886809	missense	probably benign	0.02
R1568:Ankmy1	UTSW	1	92881116	missense	probably damaging	1.00
R1585:Ankmy1	UTSW	1	92899651	missense	probably benign	0.00
R1590:Ankmy1	UTSW	1	92888675	missense	probably damaging	1.00
R1664:Ankmy1	UTSW	1	92885191	missense	probably benign	0.00
R1714:Ankmy1	UTSW	1	92885194	nonsense	probably null
R1818:Ankmy1	UTSW	1	92886831	missense	probably benign	0.43
R2014:Ankmy1	UTSW	1	92885141	missense	probably benign	0.00
R2043:Ankmy1	UTSW	1	92876527	unclassified	probably benign
R2056:Ankmy1	UTSW	1	92881831	missense	possibly damaging	0.61
R2427:Ankmy1	UTSW	1	92870807	critical splice donor site	probably null
R3806:Ankmy1	UTSW	1	92883758	missense	possibly damaging	0.92
R3883:Ankmy1	UTSW	1	92886152	missense	probably damaging	1.00
R3884:Ankmy1	UTSW	1	92886152	missense	probably damaging	1.00
R4118:Ankmy1	UTSW	1	92888696	missense	possibly damaging	0.60
R4132:Ankmy1	UTSW	1	92885100	missense	probably benign
R4441:Ankmy1	UTSW	1	92888661	missense	possibly damaging	0.92
R4543:Ankmy1	UTSW	1	92884850	missense	probably damaging	1.00
R4602:Ankmy1	UTSW	1	92888650	missense	probably benign	0.38
R4779:Ankmy1	UTSW	1	92886723	missense	probably benign	0.23
R5200:Ankmy1	UTSW	1	92870292	missense	probably benign	0.00
R5381:Ankmy1	UTSW	1	92876562	missense	probably benign
R5425:Ankmy1	UTSW	1	92870957	nonsense	probably null
R5474:Ankmy1	UTSW	1	92885204	missense	possibly damaging	0.59
R5534:Ankmy1	UTSW	1	92886720	missense	probably damaging	1.00
R5607:Ankmy1	UTSW	1	92877018	missense	probably damaging	1.00
R6112:Ankmy1	UTSW	1	92870962	missense	probably damaging	1.00
R6117:Ankmy1	UTSW	1	92861274	unclassified	probably benign
R6376:Ankmy1	UTSW	1	92888465	missense	possibly damaging	0.60
R6712:Ankmy1	UTSW	1	92870922	missense	probably damaging	1.00
R6915:Ankmy1	UTSW	1	92888451	missense	probably null	1.00
R7201:Ankmy1	UTSW	1	92886824	missense	possibly damaging	0.95
R7432:Ankmy1	UTSW	1	92896079	missense	probably benign
R7485:Ankmy1	UTSW	1	92876657	missense	probably damaging	0.99
R7795:Ankmy1	UTSW	1	92883848	missense	probably benign
R7851:Ankmy1	UTSW	1	92871722	missense	probably damaging	1.00
R8018:Ankmy1	UTSW	1	92886281	missense	probably benign	0.02
R8024:Ankmy1	UTSW	1	92884994	missense	probably benign
R8276:Ankmy1	UTSW	1	92886809	missense	probably benign	0.02
R8350:Ankmy1	UTSW	1	92876631	missense	possibly damaging	0.87
R8373:Ankmy1	UTSW	1	92896094	missense	probably damaging	0.98
R8683:Ankmy1	UTSW	1	92885250	missense	possibly damaging	0.96
R9597:Ankmy1	UTSW	1	92877051	missense
R9681:Ankmy1	UTSW	1	92886160	missense	possibly damaging	0.95
Z1176:Ankmy1	UTSW	1	92878437	missense	probably damaging	1.00

Posted On

2015-04-16