Mutagenetix > Incidental Mutation

Incidental Mutation 'R6376:Ankmy1'

514945

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

044526-MU

Accession Numbers

Essential gene?

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

Stock #

R6376 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92787525-92830628 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92816187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 309 (K309R)

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: K309R

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: K309R

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: K309R

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: K309R

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: 99.4%
20x: 97.8%

Validation Efficiency

100% (81/81)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,339,456 (GRCm39)	E106D	probably damaging	Het
A830018L16Rik	A	T	1: 11,868,718 (GRCm39)	N333Y	probably damaging	Het
Abca4	T	A	3: 121,917,309 (GRCm39)	M1007K	possibly damaging	Het
Accsl	T	A	2: 93,687,343 (GRCm39)	I495F	probably damaging	Het
Acsl3	T	C	1: 78,674,182 (GRCm39)	S373P	possibly damaging	Het
Adam7	A	G	14: 68,742,546 (GRCm39)	I689T	possibly damaging	Het
Akap11	G	A	14: 78,752,336 (GRCm39)	T179I	probably damaging	Het
Apaf1	A	T	10: 90,859,673 (GRCm39)	I824N	probably damaging	Het
Apc2	T	A	10: 80,148,488 (GRCm39)	C1152S	probably damaging	Het
Arhgap17	C	A	7: 122,899,727 (GRCm39)	W409L	probably damaging	Het
Arhgef15	T	C	11: 68,845,796 (GRCm39)	I19V	unknown	Het
Arnt	C	A	3: 95,397,936 (GRCm39)	P573H	probably damaging	Het
Arvcf	G	A	16: 18,223,882 (GRCm39)	G932R	probably damaging	Het
Atg4a-ps	C	T	3: 103,553,044 (GRCm39)	W99*	probably null	Het
Atp13a5	T	A	16: 29,056,004 (GRCm39)	D1052V	probably benign	Het
Atp2b4	T	C	1: 133,642,797 (GRCm39)	T1103A	probably damaging	Het
B4galnt4	C	A	7: 140,647,335 (GRCm39)	Q362K	possibly damaging	Het
Cd320	T	A	17: 34,066,491 (GRCm39)	N90K	probably benign	Het
Cep170b	A	T	12: 112,698,502 (GRCm39)	I87F	probably damaging	Het
Coq3	T	G	4: 21,900,486 (GRCm39)	C238G	probably benign	Het
Cpa5	A	T	6: 30,614,044 (GRCm39)	Q62L	probably benign	Het
Ctsg	A	T	14: 56,339,110 (GRCm39)	C49*	probably null	Het
Cul9	T	C	17: 46,819,489 (GRCm39)	T2000A	probably damaging	Het
Dedd	C	T	1: 171,167,790 (GRCm39)	P155S	probably benign	Het
Dnah1	A	G	14: 30,997,565 (GRCm39)	S2598P	probably damaging	Het
Dnah14	C	T	1: 181,433,459 (GRCm39)	P379S	possibly damaging	Het
Dync2h1	A	T	9: 7,165,703 (GRCm39)	S519R	probably benign	Het
Eea1	A	G	10: 95,874,660 (GRCm39)	S1192G	probably benign	Het
Eif5b	T	C	1: 38,084,760 (GRCm39)	I869T	probably damaging	Het
Elavl4	C	A	4: 110,112,651 (GRCm39)		probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ets2	G	A	16: 95,520,037 (GRCm39)	R421H	probably damaging	Het
Exoc3l2	G	A	7: 19,203,635 (GRCm39)	A76T	possibly damaging	Het
Fam89b	T	C	19: 5,778,757 (GRCm39)	Y144C	probably damaging	Het
Greb1	T	C	12: 16,749,580 (GRCm39)	E1082G	probably damaging	Het
Gtf3a	A	T	5: 146,890,798 (GRCm39)		probably null	Het
Hoxc12	C	A	15: 102,845,524 (GRCm39)	F79L	possibly damaging	Het
Hspb8	G	T	5: 116,547,491 (GRCm39)	L164I	probably damaging	Het
Ina	C	T	19: 47,003,564 (GRCm39)	A124V	probably benign	Het
Inhbb	T	A	1: 119,345,411 (GRCm39)	I293F	probably damaging	Het
Itpr3	A	G	17: 27,314,449 (GRCm39)	Y633C	possibly damaging	Het
Jag2	C	T	12: 112,872,949 (GRCm39)	V1102I	probably benign	Het
Kalrn	A	T	16: 33,796,361 (GRCm39)	F1138Y	probably benign	Het
Large2	T	A	2: 92,200,853 (GRCm39)		probably benign	Het
Lats2	A	G	14: 57,959,966 (GRCm39)	S177P	probably benign	Het
Lims2	G	A	18: 32,087,515 (GRCm39)	R124H	possibly damaging	Het
Lrp2	T	A	2: 69,313,787 (GRCm39)	T2315S	probably benign	Het
Lrrc4c	A	C	2: 97,459,391 (GRCm39)	T6P	probably benign	Het
Lrrk2	T	C	15: 91,626,469 (GRCm39)	L1171S	possibly damaging	Het
Man2b2	A	T	5: 36,978,378 (GRCm39)	M302K	probably damaging	Het
Mocos	G	A	18: 24,834,542 (GRCm39)	G860R	possibly damaging	Het
Mylk3	T	A	8: 86,085,571 (GRCm39)	D258V	possibly damaging	Het
Nkx1-2	C	T	7: 132,201,240 (GRCm39)	D6N	probably damaging	Het
Nrp2	A	G	1: 62,758,176 (GRCm39)	N54S	possibly damaging	Het
Nt5el	T	C	13: 105,256,473 (GRCm39)	I514T	possibly damaging	Het
Or2d2	A	G	7: 106,727,848 (GRCm39)	F251L	probably benign	Het
Pacsin1	A	T	17: 27,926,879 (GRCm39)	T195S	probably benign	Het
Pank4	T	C	4: 155,056,693 (GRCm39)		probably null	Het
Pdgfra	A	T	5: 75,327,180 (GRCm39)	M126L	probably benign	Het
Podxl	T	A	6: 31,505,432 (GRCm39)	T204S	probably benign	Het
Pole	G	A	5: 110,484,240 (GRCm39)	D2175N	probably damaging	Het
Pramel16	C	T	4: 143,677,267 (GRCm39)	G104E	probably benign	Het
Prkdc	A	G	16: 15,587,749 (GRCm39)	K2545E	probably benign	Het
Prodh	T	C	16: 17,897,849 (GRCm39)	I183V	probably benign	Het
Ptch1	T	C	13: 63,691,422 (GRCm39)	D277G	possibly damaging	Het
Rapgef5	G	A	12: 117,684,988 (GRCm39)	V246M	probably damaging	Het
Rubcnl	A	G	14: 75,269,834 (GRCm39)	N164S	probably benign	Het
Samd4	A	T	14: 47,290,419 (GRCm39)	L175F	probably damaging	Het
Scart1	G	A	7: 139,808,642 (GRCm39)	G851D	probably damaging	Het
Scimp	C	A	11: 70,688,893 (GRCm39)	W41L	possibly damaging	Het
Scn3a	T	A	2: 65,291,843 (GRCm39)	K1634N	possibly damaging	Het
Spta1	A	G	1: 174,030,888 (GRCm39)	R957G	probably benign	Het
Sptlc3	T	A	2: 139,478,692 (GRCm39)	N550K	probably benign	Het
Srebf1	T	C	11: 60,094,361 (GRCm39)	N609D	probably null	Het
Styxl1	A	T	5: 135,776,664 (GRCm39)	L164H	probably benign	Het
Synpo2l	A	T	14: 20,710,702 (GRCm39)	D865E	probably damaging	Het
Tnfsf15	T	C	4: 63,663,267 (GRCm39)	M19V	probably damaging	Het
Trappc8	G	C	18: 20,970,132 (GRCm39)	R953G	probably benign	Het
Trav13-1	A	G	14: 53,782,800 (GRCm39)	N50S	probably benign	Het
Trim12a	T	C	7: 103,955,241 (GRCm39)	K161E	probably benign	Het
Vipr1	C	A	9: 121,493,640 (GRCm39)	N230K	probably damaging	Het
Xirp1	A	T	9: 119,847,557 (GRCm39)	V3E	probably damaging	Het
Zfp768	A	G	7: 126,943,892 (GRCm39)	F82L	probably benign	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
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
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'- GGCTGAGTCACTAAAGCAAATG -3'
(R):5'- GCAGGACCCCTTCTTCTATG -3'

Sequencing Primer
(F):5'- AACTCTCCCTGAAAGGGA -3'
(R):5'- CTCCTGAATGATGAACTAAAGCTGC -3'

Posted On

2018-05-04