Mutagenetix > Incidental Mutation

Incidental Mutation 'R5474:Ankmy1'

433958

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

043035-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R5474 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92787525-92830628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92812926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 461 (D461G)

Ref Sequence

ENSEMBL: ENSMUSP00000123787 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112998
AA Change: D461G

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: D461G

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: D461G

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: D461G

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: 98.2%
3x: 97.2%
10x: 95.0%
20x: 90.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	C	T	12: 118,904,425 (GRCm39)	G122S	probably null	Het
Ascc3	T	C	10: 50,725,634 (GRCm39)	I2119T	probably benign	Het
Bud13	G	C	9: 46,199,251 (GRCm39)	R204T	probably damaging	Het
Clec4a4	T	C	6: 122,989,706 (GRCm39)	S116P	probably damaging	Het
Cnga1	T	C	5: 72,762,536 (GRCm39)	Y326C	probably damaging	Het
Cngb1	A	T	8: 95,978,597 (GRCm39)	I588N	probably damaging	Het
Cspg5	A	T	9: 110,080,076 (GRCm39)	I334F	probably damaging	Het
Cyp2c29	G	A	19: 39,313,436 (GRCm39)	A350T	probably damaging	Het
D5Ertd579e	G	T	5: 36,772,601 (GRCm39)	S598Y	probably damaging	Het
Dgkq	A	G	5: 108,797,009 (GRCm39)		probably null	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Drd4	T	C	7: 140,873,641 (GRCm39)	W98R	probably damaging	Het
Duox1	A	T	2: 122,177,106 (GRCm39)	Q1511L	probably benign	Het
Gtdc1	A	T	2: 44,646,379 (GRCm39)	L83Q	probably damaging	Het
H2-T3	G	A	17: 36,500,999 (GRCm39)	P6S	probably damaging	Het
H6pd	A	G	4: 150,080,546 (GRCm39)	C92R	probably damaging	Het
Ide	A	G	19: 37,249,583 (GRCm39)	V923A	unknown	Het
Kcnc4	A	T	3: 107,355,207 (GRCm39)	S414T	possibly damaging	Het
Krt14	A	T	11: 100,095,571 (GRCm39)	M278K	probably damaging	Het
Lrit1	T	A	14: 36,783,943 (GRCm39)	S424T	probably benign	Het
Muc4	G	A	16: 32,581,635 (GRCm39)	S2500N	unknown	Het
Ncs1	A	T	2: 31,170,796 (GRCm39)	N70Y	probably damaging	Het
Nemf	C	A	12: 69,363,109 (GRCm39)	R923L	probably benign	Het
Nrros	T	C	16: 31,963,170 (GRCm39)	I246M	probably benign	Het
Or5w13	G	A	2: 87,523,401 (GRCm39)	S275F	probably damaging	Het
Or6a2	T	A	7: 106,600,296 (GRCm39)	Y257F	probably damaging	Het
Or8g51	T	A	9: 38,609,609 (GRCm39)	T18S	possibly damaging	Het
Polb	A	G	8: 23,120,386 (GRCm39)	Y296H	probably benign	Het
Prrc2a	A	T	17: 35,378,189 (GRCm39)	F440L	unknown	Het
Prrc2c	T	C	1: 162,537,213 (GRCm39)		probably benign	Het
Ptprk	C	T	10: 28,372,926 (GRCm39)	R726*	probably null	Het
Rnpc3	A	T	3: 113,409,158 (GRCm39)	L247*	probably null	Het
Scfd2	C	T	5: 74,692,025 (GRCm39)	V86I	probably benign	Het
Sec14l5	A	G	16: 4,996,382 (GRCm39)	T443A	possibly damaging	Het
Slc22a29	A	G	19: 8,195,221 (GRCm39)	V138A	probably damaging	Het
Usp15	T	C	10: 122,963,950 (GRCm39)	D524G	probably damaging	Het
Vav3	A	G	3: 109,571,737 (GRCm39)	T220A	probably benign	Het
Vmn2r17	G	A	5: 109,582,150 (GRCm39)	S513N	probably damaging	Het
Zfp84	C	T	7: 29,476,514 (GRCm39)	S402L	probably damaging	Het
Zfta	A	T	19: 7,397,524 (GRCm39)	R24W	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
R3884: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
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'- AGCGTCCACATTTTCTGCCG -3'
(R):5'- TGACTTCAGAATTGTCCCTGCC -3'

Sequencing Primer
(F):5'- CTGCCGCTCCCTCAGAC -3'
(R):5'- CCCCGGCAAAGGTGTGTAAAC -3'

Posted On

2016-10-06