Mutagenetix > Incidental Mutation

Incidental Mutation 'R8373:Ankmy1'

646524

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

067741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8373 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92859803-92902906 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92896094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 150 (M150T)

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: M150T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: M150T

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: M150T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: M150T

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	T	G	6: 41,031,688	T231P	possibly damaging	Het
Adgrg6	T	C	10: 14,467,334	T290A	probably benign	Het
Aff4	C	T	11: 53,400,267	Q685*	probably null	Het
Armc1	T	C	3: 19,149,567	Y65C	probably damaging	Het
Armc8	A	G	9: 99,527,099	V222A	probably benign	Het
Bcar1	A	T	8: 111,715,738	Y228*	probably null	Het
Cct2	T	C	10: 117,060,824	D158G	possibly damaging	Het
Cul1	T	A	6: 47,515,063	C426S	possibly damaging	Het
Deup1	G	T	9: 15,592,375	L297M	possibly damaging	Het
Dpp10	A	G	1: 123,854,229	S74P	possibly damaging	Het
Epha4	A	G	1: 77,507,079	Y98H	possibly damaging	Het
Epn3	T	G	11: 94,492,936	D296A	probably damaging	Het
Eri2	A	C	7: 119,772,597	I252S	probably benign	Het
Gm14025	T	A	2: 129,038,171	I612F		Het
Gp9	C	T	6: 87,779,012	T3I	probably benign	Het
H2-Q5	T	A	17: 35,394,456	V55E		Het
Kif3c	G	T	12: 3,366,089	V37L	probably benign	Het
Lct	A	T	1: 128,303,840	N757K	probably damaging	Het
Lhx8	A	C	3: 154,324,658	N112K	probably damaging	Het
Loxl3	T	A	6: 83,048,891	S373R	possibly damaging	Het
Mettl4	G	A	17: 94,733,649	T359I	probably damaging	Het
Mpp7	A	G	18: 7,444,096	S109P	probably damaging	Het
Nckap5	A	G	1: 126,026,295	V840A	probably benign	Het
Ncoa4	T	A	14: 32,176,936	L571Q	probably damaging	Het
Olfr453	T	C	6: 42,744,346	F103S	probably damaging	Het
Olfr46	A	T	7: 140,610,295	Y35F	possibly damaging	Het
Phgdh	G	A	3: 98,321,245	T204I	probably damaging	Het
Pla2g4d	C	T	2: 120,277,499	V310M	probably null	Het
Psmd12	C	T	11: 107,497,624	P421L	probably damaging	Het
Ptch1	A	G	13: 63,541,168	Y432H	probably damaging	Het
Rapgef1	G	A	2: 29,710,231	G655S	probably damaging	Het
Rilpl2	C	A	5: 124,478,034	A18S	probably damaging	Het
Srsf7	T	C	17: 80,205,386	R88G	probably benign	Het
St6galnac1	T	C	11: 116,769,233	K85E	possibly damaging	Het
Trip12	A	T	1: 84,795,767	S49R	probably damaging	Het
Wdr48	A	G	9: 119,905,494	T160A	probably damaging	Het
Zfp704	G	A	3: 9,609,442	T93M	unknown	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
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
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'- GTACTATCCTCCCATGAGCAC -3'
(R):5'- GTTGTAGCCTGGCTTAGCAG -3'

Sequencing Primer
(F):5'- TATCCTCCCATGAGCACACAGC -3'
(R):5'- TGGCTTAGCAGTCACCTACAAAG -3'

Posted On

2020-09-02