Mutagenetix > Incidental Mutation

Incidental Mutation 'R3884:Ankmy1'

310574

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

040797-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R3884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92787525-92830628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92813874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 435 (E435A)

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: E435A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: E435A

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: E435A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: E435A

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

Meta Mutation Damage Score

0.4525

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	A	15: 98,495,055 (GRCm39)	S719F	probably benign	Het
Als2	A	G	1: 59,224,727 (GRCm39)	V998A	probably damaging	Het
Ankrd52	A	G	10: 128,224,824 (GRCm39)	E820G	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp6v0d2	T	A	4: 19,910,677 (GRCm39)	D71V	probably damaging	Het
C3	T	C	17: 57,524,173 (GRCm39)		probably null	Het
Cnot7	A	T	8: 40,963,171 (GRCm39)	M1K	probably null	Het
Cntn2	A	G	1: 132,456,677 (GRCm39)	V123A	probably damaging	Het
Depdc5	G	A	5: 33,101,421 (GRCm39)	E904K	probably damaging	Het
Dip2c	G	T	13: 9,601,894 (GRCm39)	L284F	probably damaging	Het
Epb41l3	C	T	17: 69,581,111 (GRCm39)	R552*	probably null	Het
Gabra4	T	C	5: 71,814,600 (GRCm39)	D40G	probably benign	Het
Gm9925	T	C	18: 74,198,399 (GRCm39)		probably benign	Het
Igf2r	T	A	17: 12,928,355 (GRCm39)	Q996L	probably benign	Het
Klk1b16	T	C	7: 43,788,887 (GRCm39)	V40A	possibly damaging	Het
Lin9	G	T	1: 180,515,630 (GRCm39)	G427*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyg2	C	G	1: 37,949,150 (GRCm39)	A71P	probably damaging	Het
Mycbp2	A	C	14: 103,532,686 (GRCm39)	L390V	probably damaging	Het
Myl3	A	G	9: 110,597,027 (GRCm39)	H129R	probably damaging	Het
Naa16	T	C	14: 79,580,702 (GRCm39)	K604R	probably damaging	Het
Nedd4	C	T	9: 72,632,359 (GRCm39)	P398S	probably benign	Het
Neurl1a	T	C	19: 47,241,885 (GRCm39)	V309A	probably benign	Het
Or10a2	A	T	7: 106,673,110 (GRCm39)	Q25L	possibly damaging	Het
Or6c210	T	C	10: 129,496,407 (GRCm39)	V244A	probably damaging	Het
Pacs1	T	C	19: 5,205,787 (GRCm39)	Y301C	probably damaging	Het
Parl	A	T	16: 20,101,762 (GRCm39)	M90K	probably damaging	Het
Plxnc1	A	T	10: 94,746,549 (GRCm39)		probably null	Het
Prkd2	C	A	7: 16,587,180 (GRCm39)	S375R	probably benign	Het
Prss44	T	C	9: 110,643,764 (GRCm39)	I136T	possibly damaging	Het
Rock1	G	A	18: 10,122,768 (GRCm39)	T351I	probably damaging	Het
Selenon	T	C	4: 134,267,081 (GRCm39)	N507S	possibly damaging	Het
Slc38a7	C	T	8: 96,572,809 (GRCm39)	G141R	probably damaging	Het
Trpm4	C	T	7: 44,971,422 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,560,705 (GRCm39)	N27486I	probably damaging	Het
Xylb	T	C	9: 119,209,753 (GRCm39)	M346T	probably damaging	Het
Zbtb17	T	C	4: 141,191,886 (GRCm39)	F306L	probably damaging	Het

Other mutations in Ankmy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Ankmy1	APN	1	92,813,988 (GRCm39)	missense	probably damaging	1.00
IGL01061:Ankmy1	APN	1	92,798,696 (GRCm39)	splice site	probably benign
IGL01960:Ankmy1	APN	1	92,799,385 (GRCm39)	splice site	probably benign
IGL01984:Ankmy1	APN	1	92,811,487 (GRCm39)	missense	probably damaging	0.99
IGL02193:Ankmy1	APN	1	92,808,767 (GRCm39)	missense	probably benign	0.03
IGL02536:Ankmy1	APN	1	92,813,910 (GRCm39)	missense	probably damaging	1.00
IGL02644:Ankmy1	APN	1	92,812,776 (GRCm39)	missense	probably benign	0.18
IGL02650:Ankmy1	APN	1	92,808,745 (GRCm39)	missense	probably damaging	1.00
IGL02660:Ankmy1	APN	1	92,823,816 (GRCm39)	missense	probably damaging	1.00
IGL02808:Ankmy1	APN	1	92,814,388 (GRCm39)	missense	probably damaging	1.00
bali	UTSW	1	92,799,444 (GRCm39)	missense	probably damaging	1.00
timor	UTSW	1	92,814,003 (GRCm39)	missense	probably benign	0.02
PIT4687001:Ankmy1	UTSW	1	92,812,803 (GRCm39)	missense	probably benign	0.00
R0313:Ankmy1	UTSW	1	92,813,943 (GRCm39)	missense	probably damaging	1.00
R0373:Ankmy1	UTSW	1	92,823,912 (GRCm39)	missense	probably damaging	0.99
R0383:Ankmy1	UTSW	1	92,812,775 (GRCm39)	missense	probably benign	0.00
R0499:Ankmy1	UTSW	1	92,813,948 (GRCm39)	missense	probably damaging	1.00
R0562:Ankmy1	UTSW	1	92,827,413 (GRCm39)	splice site	probably benign
R0607:Ankmy1	UTSW	1	92,816,397 (GRCm39)	missense	probably damaging	1.00
R0739:Ankmy1	UTSW	1	92,816,370 (GRCm39)	missense	probably damaging	1.00
R0962:Ankmy1	UTSW	1	92,827,290 (GRCm39)	nonsense	probably null
R1192:Ankmy1	UTSW	1	92,811,616 (GRCm39)	missense	probably damaging	0.99
R1491:Ankmy1	UTSW	1	92,814,531 (GRCm39)	missense	probably benign	0.02
R1568:Ankmy1	UTSW	1	92,808,838 (GRCm39)	missense	probably damaging	1.00
R1585:Ankmy1	UTSW	1	92,827,373 (GRCm39)	missense	probably benign	0.00
R1590:Ankmy1	UTSW	1	92,816,397 (GRCm39)	missense	probably damaging	1.00
R1664:Ankmy1	UTSW	1	92,812,913 (GRCm39)	missense	probably benign	0.00
R1714:Ankmy1	UTSW	1	92,812,916 (GRCm39)	nonsense	probably null
R1818:Ankmy1	UTSW	1	92,814,553 (GRCm39)	missense	probably benign	0.43
R2014:Ankmy1	UTSW	1	92,812,863 (GRCm39)	missense	probably benign	0.00
R2043:Ankmy1	UTSW	1	92,804,249 (GRCm39)	unclassified	probably benign
R2056:Ankmy1	UTSW	1	92,809,553 (GRCm39)	missense	possibly damaging	0.61
R2427:Ankmy1	UTSW	1	92,798,529 (GRCm39)	critical splice donor site	probably null
R3806:Ankmy1	UTSW	1	92,811,480 (GRCm39)	missense	possibly damaging	0.92
R3883:Ankmy1	UTSW	1	92,813,874 (GRCm39)	missense	probably damaging	1.00
R4118:Ankmy1	UTSW	1	92,816,418 (GRCm39)	missense	possibly damaging	0.60
R4132:Ankmy1	UTSW	1	92,812,822 (GRCm39)	missense	probably benign
R4441:Ankmy1	UTSW	1	92,816,383 (GRCm39)	missense	possibly damaging	0.92
R4543:Ankmy1	UTSW	1	92,812,572 (GRCm39)	missense	probably damaging	1.00
R4602:Ankmy1	UTSW	1	92,816,372 (GRCm39)	missense	probably benign	0.38
R4779:Ankmy1	UTSW	1	92,814,445 (GRCm39)	missense	probably benign	0.23
R5200:Ankmy1	UTSW	1	92,798,014 (GRCm39)	missense	probably benign	0.00
R5381:Ankmy1	UTSW	1	92,804,284 (GRCm39)	missense	probably benign
R5425:Ankmy1	UTSW	1	92,798,679 (GRCm39)	nonsense	probably null
R5474:Ankmy1	UTSW	1	92,812,926 (GRCm39)	missense	possibly damaging	0.59
R5534:Ankmy1	UTSW	1	92,814,442 (GRCm39)	missense	probably damaging	1.00
R5607:Ankmy1	UTSW	1	92,804,740 (GRCm39)	missense	probably damaging	1.00
R6112:Ankmy1	UTSW	1	92,798,684 (GRCm39)	missense	probably damaging	1.00
R6117:Ankmy1	UTSW	1	92,788,996 (GRCm39)	unclassified	probably benign
R6376:Ankmy1	UTSW	1	92,816,187 (GRCm39)	missense	possibly damaging	0.60
R6712:Ankmy1	UTSW	1	92,798,644 (GRCm39)	missense	probably damaging	1.00
R6915:Ankmy1	UTSW	1	92,816,173 (GRCm39)	missense	probably null	1.00
R7201:Ankmy1	UTSW	1	92,814,546 (GRCm39)	missense	possibly damaging	0.95
R7432:Ankmy1	UTSW	1	92,823,801 (GRCm39)	missense	probably benign
R7485:Ankmy1	UTSW	1	92,804,379 (GRCm39)	missense	probably damaging	0.99
R7795:Ankmy1	UTSW	1	92,811,570 (GRCm39)	missense	probably benign
R7851:Ankmy1	UTSW	1	92,799,444 (GRCm39)	missense	probably damaging	1.00
R8018:Ankmy1	UTSW	1	92,814,003 (GRCm39)	missense	probably benign	0.02
R8024:Ankmy1	UTSW	1	92,812,716 (GRCm39)	missense	probably benign
R8276:Ankmy1	UTSW	1	92,814,531 (GRCm39)	missense	probably benign	0.02
R8350:Ankmy1	UTSW	1	92,804,353 (GRCm39)	missense	possibly damaging	0.87
R8373:Ankmy1	UTSW	1	92,823,816 (GRCm39)	missense	probably damaging	0.98
R8683:Ankmy1	UTSW	1	92,812,972 (GRCm39)	missense	possibly damaging	0.96
R9597:Ankmy1	UTSW	1	92,804,773 (GRCm39)	missense
R9681:Ankmy1	UTSW	1	92,813,882 (GRCm39)	missense	possibly damaging	0.95
Z1176:Ankmy1	UTSW	1	92,806,159 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAATGGCTCAGGATGCTTCTG -3'
(R):5'- TCTGTCTGCTGAGGGCTATCTC -3'

Sequencing Primer
(F):5'- CTCAGGATGCTTCTGGGAGTTCC -3'
(R):5'- AGGGCTATCTCCTGTGTTCATGTC -3'

Posted On

2015-04-17