Mutagenetix > Incidental Mutation

Incidental Mutation 'R5425:Ankmy1'

426793

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

042991-MU

Accession Numbers

Essential gene?

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

Stock #

R5425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 92870957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 20 (Y20*)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000112998
AA Change: Y937*

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: Y937*

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 null
Transcript: ENSMUST00000160548
AA Change: Y938*

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: Y938*

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

Predicted Effect

probably null
Transcript: ENSMUST00000212504
AA Change: Y20*

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190002N15Rik	T	C	9: 94,537,692	S62G	probably damaging	Het
Ace	A	G	11: 105,973,428	E465G	probably damaging	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Aida	T	A	1: 183,322,346	C174S	possibly damaging	Het
Aldh1a2	G	A	9: 71,253,004	R104H	probably benign	Het
Aldh3a1	T	C	11: 61,213,581	L98P	probably benign	Het
Arhgap9	C	A	10: 127,326,418	N314K	probably damaging	Het
Atxn7l1	T	C	12: 33,367,120	Y427H	probably damaging	Het
Bola3	G	T	6: 83,349,552	G18W	probably benign	Het
Carmil3	A	G	14: 55,493,877	T138A	probably benign	Het
Ccnd2	A	G	6: 127,150,617	Y53H	probably benign	Het
Cd101	T	A	3: 101,018,686	D239V	probably damaging	Het
Ces1g	T	A	8: 93,325,800	Q287L	probably benign	Het
Cfap43	C	T	19: 47,896,932	A415T	possibly damaging	Het
Cfap74	A	G	4: 155,455,692		probably benign	Het
Crnn	A	G	3: 93,149,149	K414R	probably benign	Het
Csf1	A	G	3: 107,748,896	L273P	possibly damaging	Het
Dab2ip	T	G	2: 35,709,991	H206Q	probably benign	Het
Diras2	A	G	13: 52,508,047	S75P	probably damaging	Het
Dst	T	C	1: 34,179,750	V1757A	probably benign	Het
Dus4l	A	T	12: 31,640,808	H281Q	probably damaging	Het
Faah	A	T	4: 116,000,796	M436K	probably null	Het
Fat1	T	C	8: 45,025,885	V2656A	possibly damaging	Het
Ffar1	A	C	7: 30,860,779	L231R	probably damaging	Het
Gab1	T	C	8: 80,800,389	K27E	probably damaging	Het
Gatsl3	T	A	11: 4,221,689	H304Q	probably damaging	Het
Gm14403	AAACCCTA	AA	2: 177,509,655		probably benign	Het
Gm8909	A	C	17: 36,168,485	L8R	probably damaging	Het
Irx6	T	C	8: 92,677,517		probably null	Het
Mcrs1	C	A	15: 99,243,688	R376L	probably damaging	Het
Mrgprb1	T	A	7: 48,447,971	L64F	possibly damaging	Het
Nck2	T	G	1: 43,554,392	V253G	probably benign	Het
Paip1	C	T	13: 119,430,166	T12M	possibly damaging	Het
Pdpk1	A	T	17: 24,098,121	L256Q	probably damaging	Het
Perm1	A	G	4: 156,218,295	D432G	probably benign	Het
Psg25	A	T	7: 18,524,784	Y322*	probably null	Het
Pzp	G	A	6: 128,489,048	A1223V	probably damaging	Het
Rassf8	A	T	6: 145,815,542	Y198F	probably benign	Het
Repin1	A	G	6: 48,596,431	Q42R	probably benign	Het
Sirpb1b	A	C	3: 15,548,669	C51G	probably damaging	Het
Snx13	C	T	12: 35,100,644	Q316*	probably null	Het
Spesp1	A	G	9: 62,282,049	V5A	possibly damaging	Het
Sprr2e	G	A	3: 92,353,063	C67Y	unknown	Het
Tcaf3	G	A	6: 42,596,763	P172S	probably damaging	Het
Tmem126b	A	G	7: 90,470,947	I72T	probably benign	Het
Tmem17	G	T	11: 22,518,624	V188L	probably benign	Het
Tnfrsf1b	T	C	4: 145,229,108		probably null	Het
Tshz2	A	T	2: 169,884,024	Q180L	probably damaging	Het
Ttc41	A	T	10: 86,776,630	I1256F	probably damaging	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Wdr17	C	T	8: 54,681,399	G349R	probably damaging	Het
Ywhag	G	T	5: 135,911,265	H158Q	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
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
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'- CAGCACTGTGTCTTTGTTCTAG -3'
(R):5'- CCAAAGGCTCAGTGTGCATC -3'

Sequencing Primer
(F):5'- TTCTAGGAAGCAGTAGGGCCC -3'
(R):5'- AGGCTCAGTGTGCATCAACTG -3'

Posted On

2016-09-01