Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02028:Zmym5'

184261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zmym5

Ensembl Gene

ENSMUSG00000040123

Gene Name

zinc finger, MYM-type 5

Synonyms

9830124H08Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL02028

Quality Score

Status

Chromosome

Chromosomal Location

57028042-57049173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57041617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 162 (H162R)

Ref Sequence

ENSEMBL: ENSMUSP00000153263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039812] [ENSMUST00000111285] [ENSMUST00000173954] [ENSMUST00000225699]

AlphaFold

Q3U2E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039812
AA Change: H162R

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043625
Gene: ENSMUSG00000040123
AA Change: H162R

Domain	Start	End	E-Value	Type
low complexity region	91	103	N/A	INTRINSIC
TRASH	213	249	2.69e-5	SMART
TRASH	306	341	1e3	SMART
TRASH	348	385	3.32e-5	SMART
low complexity region	426	436	N/A	INTRINSIC
ZnF_TTF	528	604	4.14e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111285
AA Change: H162R

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106916
Gene: ENSMUSG00000040123
AA Change: H162R

Domain	Start	End	E-Value	Type
low complexity region	91	103	N/A	INTRINSIC
TRASH	213	249	2.69e-5	SMART
TRASH	306	341	1e3	SMART
TRASH	348	385	3.32e-5	SMART
low complexity region	426	436	N/A	INTRINSIC
ZnF_TTF	528	604	4.14e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173954
AA Change: H162R

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134057
Gene: ENSMUSG00000040123
AA Change: H162R

Domain	Start	End	E-Value	Type
low complexity region	91	103	N/A	INTRINSIC
TRASH	213	249	2.69e-5	SMART
TRASH	306	341	1e3	SMART
TRASH	348	385	3.32e-5	SMART
low complexity region	426	436	N/A	INTRINSIC
ZnF_TTF	528	604	4.14e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224498

Predicted Effect

possibly damaging
Transcript: ENSMUST00000225699
AA Change: H162R

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	A	G	1: 60,473,442 (GRCm39)	Y53C	probably damaging	Het
Acacb	T	A	5: 114,304,076 (GRCm39)	D166E	probably damaging	Het
Akap8l	T	C	17: 32,557,495 (GRCm39)		probably null	Het
Arl6ip5	A	G	6: 97,206,611 (GRCm39)	Y97C	probably damaging	Het
Atad5	T	A	11: 80,024,936 (GRCm39)	S1772R	probably benign	Het
Ccdc106	A	G	7: 5,062,645 (GRCm39)	Q155R	probably damaging	Het
Ccdc33	T	C	9: 57,983,861 (GRCm39)	N446S	probably benign	Het
Cdh2	T	C	18: 16,783,477 (GRCm39)	D84G	probably benign	Het
Cntn6	A	G	6: 104,836,387 (GRCm39)	K918E	probably damaging	Het
Dock6	T	C	9: 21,750,122 (GRCm39)	D521G	probably damaging	Het
Dync2i1	C	A	12: 116,219,681 (GRCm39)	R87L	probably benign	Het
Etv6	C	T	6: 134,225,696 (GRCm39)	A309V	probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Figla	T	C	6: 85,994,345 (GRCm39)	L40P	probably damaging	Het
Gabra4	T	A	5: 71,790,939 (GRCm39)	Q301L	probably damaging	Het
Glt1d1	G	A	5: 127,783,984 (GRCm39)	V313M	possibly damaging	Het
Gm28778	T	A	1: 53,357,120 (GRCm39)	I94K	possibly damaging	Het
Gm4847	T	C	1: 166,469,765 (GRCm39)	K103E	probably benign	Het
Gne	A	G	4: 44,066,852 (GRCm39)	S23P	probably damaging	Het
Hipk2	A	G	6: 38,795,691 (GRCm39)	C186R	possibly damaging	Het
Lrp1b	C	T	2: 41,401,464 (GRCm39)	V283I	probably damaging	Het
Mcm10	A	T	2: 5,013,511 (GRCm39)	D40E	possibly damaging	Het
Morc2b	T	A	17: 33,356,387 (GRCm39)	I462F	possibly damaging	Het
Myh1	T	A	11: 67,101,441 (GRCm39)	I711N	probably damaging	Het
Oit3	A	G	10: 59,274,477 (GRCm39)	F108L	probably damaging	Het
Or4f4b	T	C	2: 111,313,816 (GRCm39)	F14L	probably benign	Het
Or8b49	T	A	9: 38,505,715 (GRCm39)	L66*	probably null	Het
Polr1g	T	C	7: 19,091,003 (GRCm39)	K368R	probably damaging	Het
Rbm19	A	G	5: 120,258,301 (GRCm39)	D172G	probably damaging	Het
Ribc2	A	G	15: 85,027,536 (GRCm39)	D339G	possibly damaging	Het
Rras2	C	A	7: 113,659,597 (GRCm39)	V56L	probably benign	Het
Scn2a	A	G	2: 65,594,002 (GRCm39)	E1617G	probably damaging	Het
Slc13a1	T	A	6: 24,118,030 (GRCm39)	M236L	probably benign	Het
Snrnp27	C	T	6: 86,659,955 (GRCm39)	R13H	unknown	Het
Srgap2	T	C	1: 131,224,173 (GRCm39)	K92E	probably damaging	Het
Suco	T	C	1: 161,684,428 (GRCm39)	K231E	possibly damaging	Het
Tll2	C	A	19: 41,087,088 (GRCm39)	E588*	probably null	Het
Tmem215	A	T	4: 40,473,940 (GRCm39)	I6L	possibly damaging	Het
Tnc	A	C	4: 63,884,909 (GRCm39)		probably benign	Het
Tob1	G	A	11: 94,105,052 (GRCm39)	G196D	probably benign	Het
Ubtfl1	T	A	9: 18,320,849 (GRCm39)	Y126N	possibly damaging	Het
Uck1	G	T	2: 32,148,149 (GRCm39)	Q192K	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,469 (GRCm39)		noncoding transcript	Het
Vmn1r88	C	T	7: 12,911,719 (GRCm39)	S25L	probably benign	Het
Vmn2r109	T	G	17: 20,761,342 (GRCm39)	I672L	probably benign	Het
Vmn2r23	T	C	6: 123,718,819 (GRCm39)	F724S	probably damaging	Het
Vmn2r54	A	T	7: 12,366,088 (GRCm39)	F282Y	probably damaging	Het
Vmn2r82	A	T	10: 79,215,057 (GRCm39)	I347F	probably benign	Het
Wasf2	G	A	4: 132,923,112 (GRCm39)	R474H	probably damaging	Het

Other mutations in Zmym5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01933:Zmym5	APN	14	57,041,617 (GRCm39)	missense	probably damaging	0.99
IGL02535:Zmym5	APN	14	57,035,123 (GRCm39)	critical splice donor site	probably null
cerveza	UTSW	14	57,031,918 (GRCm39)	nonsense	probably null
Yeast	UTSW	14	57,049,618 (GRCm39)	unclassified	probably benign
R0391:Zmym5	UTSW	14	57,041,908 (GRCm39)	missense	possibly damaging	0.74
R1692:Zmym5	UTSW	14	57,041,650 (GRCm39)	missense	probably damaging	1.00
R1939:Zmym5	UTSW	14	57,036,577 (GRCm39)	missense	probably damaging	0.98
R1997:Zmym5	UTSW	14	57,035,210 (GRCm39)	missense	possibly damaging	0.85
R3790:Zmym5	UTSW	14	57,031,230 (GRCm39)	missense	probably damaging	1.00
R4027:Zmym5	UTSW	14	57,035,268 (GRCm39)	missense	probably benign	0.18
R4345:Zmym5	UTSW	14	57,034,083 (GRCm39)	missense	probably benign	0.00
R4622:Zmym5	UTSW	14	57,049,693 (GRCm39)	unclassified	probably benign
R4686:Zmym5	UTSW	14	57,049,618 (GRCm39)	unclassified	probably benign
R5092:Zmym5	UTSW	14	57,034,236 (GRCm39)	missense	probably benign	0.27
R5344:Zmym5	UTSW	14	57,031,519 (GRCm39)	missense	probably damaging	1.00
R6356:Zmym5	UTSW	14	57,031,622 (GRCm39)	missense	possibly damaging	0.71
R7074:Zmym5	UTSW	14	57,042,255 (GRCm39)	missense	probably benign
R7358:Zmym5	UTSW	14	57,031,597 (GRCm39)	nonsense	probably null
R7657:Zmym5	UTSW	14	57,041,653 (GRCm39)	missense	probably benign	0.01
R7811:Zmym5	UTSW	14	57,036,434 (GRCm39)	missense	probably damaging	1.00
R8013:Zmym5	UTSW	14	57,031,883 (GRCm39)	missense	possibly damaging	0.52
R8014:Zmym5	UTSW	14	57,031,883 (GRCm39)	missense	possibly damaging	0.52
R8174:Zmym5	UTSW	14	57,031,918 (GRCm39)	nonsense	probably null
R9260:Zmym5	UTSW	14	57,041,641 (GRCm39)	missense	probably damaging	1.00
Z1176:Zmym5	UTSW	14	57,035,277 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07