Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Zmym5'

422525

Institutional Source

Beutler Lab

Gene Symbol

Zmym5

Ensembl Gene

ENSMUSG00000040123

Gene Name

zinc finger, MYM-type 5

Synonyms

9830124H08Rik

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57028042-57049173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57031519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 530 (T530A)

Ref Sequence

ENSEMBL: ENSMUSP00000134057 (fasta)

Gene Model

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

AlphaFold

Q3U2E2

Predicted Effect

probably damaging
Transcript: ENSMUST00000039812
AA Change: T530A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000043625
Gene: ENSMUSG00000040123
AA Change: T530A

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

probably damaging
Transcript: ENSMUST00000111285
AA Change: T530A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106916
Gene: ENSMUSG00000040123
AA Change: T530A

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

probably damaging
Transcript: ENSMUST00000173954
AA Change: T530A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134057
Gene: ENSMUSG00000040123
AA Change: T530A

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

probably benign
Transcript: ENSMUST00000225699

Meta Mutation Damage Score

0.1017

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Gpcpd1	G	A	2: 132,400,597 (GRCm39)		probably benign	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly 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
IGL02028:Zmym5	APN	14	57,041,617 (GRCm39)	missense	possibly damaging	0.93
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGCTGCACACAATCTTCCC -3'
(R):5'- AACCGTTGCCTGCTCTTATG -3'

Sequencing Primer
(F):5'- GATGTGCATTTCACTTTCGTCATG -3'
(R):5'- CGTGAATCATCAGGTACACTTTCAGG -3'

Posted On

2016-08-04