Mutagenetix > Incidental Mutation

Incidental Mutation 'R6356:Zmym5'

513035

Institutional Source

Beutler Lab

Gene Symbol

Zmym5

Ensembl Gene

ENSMUSG00000040123

Gene Name

zinc finger, MYM-type 5

Synonyms

9830124H08Rik

Accession Numbers

Essential gene?

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

Stock #

R6356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57028042-57049173 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57031622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 495 (N495K)

Ref Sequence

ENSEMBL: ENSMUSP00000134057 (fasta)

Gene Model

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

AlphaFold

Q3U2E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039812
AA Change: N495K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000043625
Gene: ENSMUSG00000040123
AA Change: N495K

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: N495K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000106916
Gene: ENSMUSG00000040123
AA Change: N495K

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: N495K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134057
Gene: ENSMUSG00000040123
AA Change: N495K

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,161,292 (GRCm39)	S152T	probably benign	Het
Aass	A	G	6: 23,093,901 (GRCm39)	V140A	probably damaging	Het
Add1	A	G	5: 34,776,740 (GRCm39)	N32S	probably null	Het
Agap2	T	C	10: 126,918,865 (GRCm39)	S414P	unknown	Het
Arhgef38	A	G	3: 132,846,638 (GRCm39)	F376L	probably benign	Het
Cd22	A	T	7: 30,577,127 (GRCm39)	I60N	probably damaging	Het
Cdh23	T	A	10: 60,274,626 (GRCm39)	D488V	probably damaging	Het
Cfap251	G	A	5: 123,392,729 (GRCm39)		probably benign	Het
Cox16	T	G	12: 81,519,115 (GRCm39)	D148A	probably damaging	Het
Dclre1b	G	A	3: 103,715,471 (GRCm39)	T9I	probably damaging	Het
Dennd4c	T	C	4: 86,743,686 (GRCm39)	V1176A	probably benign	Het
Echdc1	A	C	10: 29,220,522 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,784,533 (GRCm39)	K2772E	probably benign	Het
Efnb3	G	A	11: 69,446,966 (GRCm39)	A248V	probably benign	Het
Glud1	A	G	14: 34,033,173 (GRCm39)	R107G	probably benign	Het
Gtf2h4	A	G	17: 35,980,647 (GRCm39)	S279P	probably damaging	Het
Hectd1	A	G	12: 51,791,402 (GRCm39)	C2579R	probably damaging	Het
Igkv15-103	A	G	6: 68,414,441 (GRCm39)		probably benign	Het
Ivl	CCTGCTGCTGCTGCT	CCTGCTGCTGCT	3: 92,479,217 (GRCm39)		probably benign	Het
Krtap5-2	T	C	7: 141,729,119 (GRCm39)		probably benign	Het
Lcn11	G	T	2: 25,668,132 (GRCm39)	G97*	probably null	Het
Lrrtm3	G	A	10: 63,765,943 (GRCm39)	T548M	probably benign	Het
Map3k2	A	T	18: 32,345,023 (GRCm39)	T283S	probably damaging	Het
Mast4	T	C	13: 102,872,493 (GRCm39)	K2292E	possibly damaging	Het
Med23	G	T	10: 24,764,311 (GRCm39)	C98F	probably damaging	Het
Morc1	T	A	16: 48,257,652 (GRCm39)	F26Y	probably damaging	Het
Muc5ac	T	A	7: 141,366,416 (GRCm39)	M2160K	probably benign	Het
Myocd	T	C	11: 65,109,396 (GRCm39)		probably null	Het
Nup160	T	A	2: 90,542,279 (GRCm39)		probably null	Het
Obi1	A	G	14: 104,716,313 (GRCm39)	S687P	probably damaging	Het
Olr1	A	T	6: 129,470,522 (GRCm39)	L215Q	probably benign	Het
Or5ak23	T	A	2: 85,245,031 (GRCm39)	Q64L	probably damaging	Het
Or6c216	T	A	10: 129,678,477 (GRCm39)	S145C	probably benign	Het
Pik3c2a	T	C	7: 115,947,440 (GRCm39)	K1414R	possibly damaging	Het
Ppfibp2	T	C	7: 107,280,976 (GRCm39)	V96A	probably benign	Het
Prim1	T	A	10: 127,859,704 (GRCm39)	Y299N	probably damaging	Het
Rsf1	T	C	7: 97,311,141 (GRCm39)	S624P	probably benign	Het
Samd4b	A	T	7: 28,101,018 (GRCm39)	I687N	probably damaging	Het
Sbf2	A	T	7: 109,971,830 (GRCm39)	F801L	probably damaging	Het
St6gal2	T	C	17: 55,789,014 (GRCm39)	I16T	probably damaging	Het
Tiam2	CGGG	CGGGG	17: 3,464,897 (GRCm39)		probably null	Het
Trim8	T	G	19: 46,503,797 (GRCm39)	S450A	probably benign	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Vmn2r24	A	G	6: 123,783,368 (GRCm39)	S523G	possibly damaging	Het
Vmn2r52	T	A	7: 9,902,926 (GRCm39)	M501L	probably benign	Het
Vmn2r68	C	T	7: 84,883,048 (GRCm39)	V235M	possibly damaging	Het
Zfhx3	G	A	8: 109,673,251 (GRCm39)	V1434M	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
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
R5344:Zmym5	UTSW	14	57,031,519 (GRCm39)	missense	probably damaging	1.00
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'- TAGCTGCACACAATCTTCCC -3'
(R):5'- AACCGTTGCCTGCTCTTATG -3'

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

Posted On

2018-04-27