Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02975:Ankmy2'

406342

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankmy2

Ensembl Gene

ENSMUSG00000036188

Gene Name

ankyrin repeat and MYND domain containing 2

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

IGL02975

Quality Score

Status

Chromosome

Chromosomal Location

36207123-36247290 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36243773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 329 (S329R)

Ref Sequence

ENSEMBL: ENSMUSP00000039484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041640]

AlphaFold

Q3TPE9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041640
AA Change: S329R

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000039484
Gene: ENSMUSG00000036188
AA Change: S329R

Domain	Start	End	E-Value	Type
ANK	45	74	1.1e-6	SMART
ANK	79	108	7.83e-3	SMART
ANK	112	143	9.33e2	SMART
Pfam:zf-MYND	320	357	6.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220788

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,784 (GRCm39)	D326G	possibly damaging	Het
Abtb3	A	G	10: 85,467,207 (GRCm39)	I721V	probably benign	Het
Ago4	C	T	4: 126,406,312 (GRCm39)		probably null	Het
Ank	A	G	15: 27,467,087 (GRCm39)		probably benign	Het
Aox1	A	G	1: 58,107,550 (GRCm39)	E608G	probably damaging	Het
Car1	G	A	3: 14,842,882 (GRCm39)	L48F	probably benign	Het
Cct8	A	G	16: 87,283,118 (GRCm39)		probably benign	Het
Clasp1	A	T	1: 118,390,277 (GRCm39)	T154S	probably damaging	Het
Clca4a	A	C	3: 144,669,530 (GRCm39)	I340M	possibly damaging	Het
Cnksr3	C	T	10: 7,088,354 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,210,199 (GRCm39)	T265A	possibly damaging	Het
Ddx5	T	C	11: 106,672,711 (GRCm39)	I605V	probably benign	Het
Eif3i	A	G	4: 129,489,105 (GRCm39)	Y70H	probably damaging	Het
Epb41l5	T	C	1: 119,506,811 (GRCm39)		probably benign	Het
Fah	A	T	7: 84,250,287 (GRCm39)	S90T	probably benign	Het
Fat2	T	A	11: 55,161,020 (GRCm39)	M3237L	probably benign	Het
Fbxw8	A	G	5: 118,215,760 (GRCm39)	Y417H	probably benign	Het
Fmnl2	C	A	2: 52,991,494 (GRCm39)	F336L	probably benign	Het
Gli3	A	G	13: 15,899,153 (GRCm39)	R847G	probably damaging	Het
Gm17509	T	C	13: 117,357,308 (GRCm39)		probably benign	Het
Gm4846	T	A	1: 166,311,449 (GRCm39)	Y470F	possibly damaging	Het
Gm7461	T	C	8: 4,727,847 (GRCm39)		noncoding transcript	Het
Gpatch4	A	T	3: 87,961,743 (GRCm39)	N134I	possibly damaging	Het
Grina	A	G	15: 76,133,185 (GRCm39)	Y251C	probably damaging	Het
Gsn	A	G	2: 35,194,666 (GRCm39)	D654G	probably benign	Het
Hyal5	A	G	6: 24,891,451 (GRCm39)	T422A	probably benign	Het
Iars1	T	A	13: 49,858,325 (GRCm39)	I377N	probably damaging	Het
Ints3	A	T	3: 90,309,144 (GRCm39)		probably benign	Het
Kdm4b	G	A	17: 56,682,996 (GRCm39)		probably null	Het
Kyat1	A	G	2: 30,076,687 (GRCm39)	S276P	probably damaging	Het
Lrrc1	A	G	9: 77,359,929 (GRCm39)	C288R	probably damaging	Het
Mst1r	T	A	9: 107,790,379 (GRCm39)	M664K	probably benign	Het
Neb	A	T	2: 52,188,879 (GRCm39)	I817N	probably damaging	Het
Nudt6	C	A	3: 37,473,667 (GRCm39)	G18V	probably damaging	Het
Or10a49	G	A	7: 108,468,062 (GRCm39)	Q100*	probably null	Het
Or4k52	T	A	2: 111,611,266 (GRCm39)	Y200*	probably null	Het
Or7a41	T	C	10: 78,870,867 (GRCm39)	V79A	possibly damaging	Het
Pde1c	A	G	6: 56,135,921 (GRCm39)	I341T	probably damaging	Het
Pgm5	T	C	19: 24,812,212 (GRCm39)	I107V	probably benign	Het
Pot1b	G	A	17: 55,969,454 (GRCm39)		probably benign	Het
Prkca	C	T	11: 108,231,503 (GRCm39)	W58*	probably null	Het
Slc12a9	T	C	5: 137,320,705 (GRCm39)	K555R	probably damaging	Het
Smoc2	A	T	17: 14,556,872 (GRCm39)	Q107L	probably damaging	Het
Sytl1	T	A	4: 132,988,343 (GRCm39)	R4S	probably benign	Het
Tbc1d4	A	G	14: 101,695,549 (GRCm39)	L963P	probably damaging	Het
Tfdp2	G	A	9: 96,199,989 (GRCm39)		probably benign	Het
Tmem63a	A	T	1: 180,788,640 (GRCm39)	M326L	probably benign	Het
Vmn2r66	A	G	7: 84,656,182 (GRCm39)	L278P	probably damaging	Het
Wtap	A	G	17: 13,202,398 (GRCm39)	V11A	possibly damaging	Het
Zcchc9	A	T	13: 91,954,172 (GRCm39)	S28T	possibly damaging	Het
Zfp12	C	T	5: 143,229,814 (GRCm39)		probably benign	Het

Other mutations in Ankmy2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01971:Ankmy2	APN	12	36,243,792 (GRCm39)	nonsense	probably null
IGL02588:Ankmy2	APN	12	36,226,685 (GRCm39)	splice site	probably benign
IGL03076:Ankmy2	APN	12	36,215,917 (GRCm39)	missense	probably damaging	0.98
Concise	UTSW	12	36,243,783 (GRCm39)	missense	probably damaging	1.00
7510:Ankmy2	UTSW	12	36,207,411 (GRCm39)	missense	probably benign	0.06
PIT4520001:Ankmy2	UTSW	12	36,207,390 (GRCm39)	missense	probably benign	0.41
R0135:Ankmy2	UTSW	12	36,220,434 (GRCm39)	splice site	probably benign
R0319:Ankmy2	UTSW	12	36,215,898 (GRCm39)	missense	possibly damaging	0.76
R0347:Ankmy2	UTSW	12	36,243,753 (GRCm39)	missense	probably damaging	1.00
R0485:Ankmy2	UTSW	12	36,232,389 (GRCm39)	missense	possibly damaging	0.94
R0557:Ankmy2	UTSW	12	36,237,765 (GRCm39)	missense	probably benign	0.38
R1304:Ankmy2	UTSW	12	36,236,804 (GRCm39)	missense	probably damaging	0.99
R1397:Ankmy2	UTSW	12	36,220,440 (GRCm39)	splice site	probably benign
R1572:Ankmy2	UTSW	12	36,236,941 (GRCm39)	critical splice donor site	probably null
R1674:Ankmy2	UTSW	12	36,237,668 (GRCm39)	missense	probably benign
R1874:Ankmy2	UTSW	12	36,215,930 (GRCm39)	missense	possibly damaging	0.77
R1887:Ankmy2	UTSW	12	36,220,467 (GRCm39)	missense	possibly damaging	0.71
R1985:Ankmy2	UTSW	12	36,207,363 (GRCm39)	missense	possibly damaging	0.86
R1996:Ankmy2	UTSW	12	36,243,796 (GRCm39)	missense	probably benign	0.00
R4964:Ankmy2	UTSW	12	36,236,917 (GRCm39)	missense	possibly damaging	0.69
R5534:Ankmy2	UTSW	12	36,232,491 (GRCm39)	missense	probably damaging	0.96
R5606:Ankmy2	UTSW	12	36,215,920 (GRCm39)	missense	probably benign	0.19
R5614:Ankmy2	UTSW	12	36,243,783 (GRCm39)	missense	probably damaging	1.00
R5906:Ankmy2	UTSW	12	36,226,632 (GRCm39)	missense	probably damaging	1.00
R6427:Ankmy2	UTSW	12	36,237,710 (GRCm39)	missense	possibly damaging	0.49
R7065:Ankmy2	UTSW	12	36,237,707 (GRCm39)	missense	probably damaging	0.96
R7135:Ankmy2	UTSW	12	36,246,311 (GRCm39)	missense	probably benign
R7705:Ankmy2	UTSW	12	36,245,107 (GRCm39)	missense	probably benign	0.37
R7721:Ankmy2	UTSW	12	36,207,143 (GRCm39)	unclassified	probably benign
R8492:Ankmy2	UTSW	12	36,226,590 (GRCm39)	missense	probably damaging	1.00
R9100:Ankmy2	UTSW	12	36,236,806 (GRCm39)	missense	probably damaging	0.99
Z1176:Ankmy2	UTSW	12	36,236,858 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02