Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Ankmy1'

274573

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

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

Stock #

R3806 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92883758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 636 (I636T)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112998
AA Change: I636T

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: I636T

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

possibly damaging
Transcript: ENSMUST00000160548
AA Change: I636T

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: I636T

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

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap9	A	G	5: 3,954,410	N108S	probably benign	Het
Bbs9	T	A	9: 22,887,630	D851E	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,180,824	T62A	possibly damaging	Het
Clcnka	T	C	4: 141,387,290	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cpxm2	C	T	7: 132,080,091	M236I	probably benign	Het
Dhrs2	A	T	14: 55,234,748	N32I	probably benign	Het
Fam131a	G	A	16: 20,695,858	V70M	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,329,452	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,907,614	T315A	probably benign	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965	Q18*	probably null	Het
Gm4788	T	A	1: 139,753,035	K248N	probably damaging	Het
Hemk1	T	A	9: 107,337,030	I68F	probably damaging	Het
Herc3	C	A	6: 58,916,850	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,859,298	A68S	probably benign	Het
Ip6k3	T	C	17: 27,145,000	H358R	probably damaging	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Kmt2a	C	T	9: 44,820,356		probably benign	Het
Krt16	G	T	11: 100,248,740	R51S	unknown	Het
Lamtor1	G	A	7: 101,911,345	V156I	probably damaging	Het
Lingo4	A	G	3: 94,402,100	D115G	probably damaging	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Man1c1	A	T	4: 134,703,351	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,388,360	N145S	probably benign	Het
Morf4l1	A	G	9: 90,095,143	S203P	probably benign	Het
Muc5ac	T	C	7: 141,813,734	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,152,634	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,482,504	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,404,846	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352		probably benign	Het
Olfr1187-ps1	A	T	2: 88,540,356		noncoding transcript	Het
Olfr73	A	G	2: 88,034,567	S191P	possibly damaging	Het
Otof	T	A	5: 30,386,499		probably null	Het
Pcdha2	G	A	18: 36,939,529	R71H	probably benign	Het
Pcdha2	G	T	18: 36,941,691	E792*	probably null	Het
Pcnx	A	G	12: 81,950,137	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,260,806	Y122H	probably damaging	Het
Psg16	A	G	7: 17,090,684	E131G	probably benign	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Rab6a	A	G	7: 100,608,224	M1V	probably null	Het
Ripk3	T	C	14: 55,786,268	R29G	probably benign	Het
Robo4	A	T	9: 37,404,438	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,422,190	V423A	possibly damaging	Het
Scgb2b18	T	G	7: 33,173,138	M81L	probably benign	Het
Slc24a2	A	T	4: 87,227,784	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,357,193	E325G	probably benign	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Them6	A	G	15: 74,721,518	D75G	probably damaging	Het
Tmem5	A	T	10: 122,081,609	V333E	possibly damaging	Het
Tmem57	C	T	4: 134,830,580	M207I	probably benign	Het
Tnrc18	G	A	5: 142,787,274	A417V	unknown	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zbtb22	C	T	17: 33,916,946		probably benign	Het
Zfp235	A	G	7: 24,140,621	D225G	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
IGL02650:Ankmy1	APN	1	92881023	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CCTCCTGTGGTGTTGCTAAC -3'
(R):5'- CCCTTGCTTAGAGGATCCTGTC -3'

Sequencing Primer
(F):5'- TGTTGCTAACACCTCACACATCAG -3'
(R):5'- GTGACCCTGCCCTTCTGG -3'

Posted On

2015-04-02