Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Ankmy1'

228147

Institutional Source

Beutler Lab

Gene Symbol

Ankmy1

Ensembl Gene

ENSMUSG00000034212

Gene Name

ankyrin repeat and MYND domain containing 1

Synonyms

4930483I10Rik

MMRRC Submission

040061-MU

Accession Numbers

Essential gene?

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

Stock #

R2056 (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 92809553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 662 (I662V)

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: I662V

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108622
Gene: ENSMUSG00000034212
AA Change: I662V

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: I662V

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123787
Gene: ENSMUSG00000034212
AA Change: I662V

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,667,525 (GRCm39)	V129A	probably benign	Het
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	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
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
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'- CAGTGGTCAGAGCCTACATATG -3'
(R):5'- GAGCATTCAGTCCATTTGTTGTTC -3'

Sequencing Primer
(F):5'- GTCAGAGCCTACATATGAGTTGC -3'
(R):5'- CCTGAAATTGTTGCAGTAGCC -3'

Posted On

2014-09-17