Mutagenetix > Incidental Mutation

Incidental Mutation 'R5217:Zmym6'

403522

Institutional Source

Beutler Lab

Gene Symbol

Zmym6

Ensembl Gene

ENSMUSG00000042408

Gene Name

zinc finger, MYM-type 6

Synonyms

9330177P20Rik, Zfp258, D4Wsu24e

MMRRC Submission

042790-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5217 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126971176-127018165 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 126999167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 450 (N450K)

Ref Sequence

ENSEMBL: ENSMUSP00000045366 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046751] [ENSMUST00000094713]

AlphaFold

Q8BS54

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046751
AA Change: N450K

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000045366
Gene: ENSMUSG00000042408
AA Change: N450K

Domain	Start	End	E-Value	Type
Blast:TRASH	77	113	1e-12	BLAST
TRASH	123	163	1.18e-1	SMART
TRASH	197	231	5.47e3	SMART
TRASH	241	277	4.01e1	SMART
TRASH	349	385	2.46e1	SMART
TRASH	391	426	3.32e2	SMART
TRASH	434	472	2.91e-1	SMART
TRASH	478	513	9.99e0	SMART
low complexity region	602	612	N/A	INTRINSIC
low complexity region	642	656	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094713
AA Change: N358K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000092303
Gene: ENSMUSG00000042408
AA Change: N358K

Domain	Start	End	E-Value	Type
Blast:TRASH	77	113	1e-12	BLAST
TRASH	123	163	1.18e-1	SMART
TRASH	197	231	5.47e3	SMART
TRASH	262	293	6.03e2	SMART
TRASH	299	334	3.32e2	SMART
TRASH	342	380	2.91e-1	SMART
TRASH	386	421	9.99e0	SMART
low complexity region	510	520	N/A	INTRINSIC
low complexity region	550	564	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158357

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933428M09Rik	G	T	X: 138,080,282 (GRCm39)	G16*	probably null	Het
Abhd11	T	A	5: 135,040,398 (GRCm39)	W144R	probably damaging	Het
Abhd2	A	G	7: 78,973,378 (GRCm39)	E119G	probably benign	Het
Acbd3	A	G	1: 180,553,938 (GRCm39)	Y91C	probably benign	Het
Aox4	C	A	1: 58,285,400 (GRCm39)	S628*	probably null	Het
Bahcc1	T	A	11: 120,165,285 (GRCm39)	Y905*	probably null	Het
Baiap2l2	T	G	15: 79,154,687 (GRCm39)	S211R	probably benign	Het
Cab39l	T	A	14: 59,764,258 (GRCm39)	Y206*	probably null	Het
Cacna1i	A	T	15: 80,275,041 (GRCm39)	T1830S	possibly damaging	Het
Catsperg1	A	T	7: 28,889,723 (GRCm39)	L793*	probably null	Het
Cdh10	G	T	15: 18,966,108 (GRCm39)	V198F	probably damaging	Het
Cenpk	A	T	13: 104,385,917 (GRCm39)	I271F	probably damaging	Het
Chchd4	A	T	6: 91,442,260 (GRCm39)	C53S	probably damaging	Het
Cluh	T	G	11: 74,550,531 (GRCm39)	C252W	probably damaging	Het
Cmklr1	G	T	5: 113,752,710 (GRCm39)	A97E	probably damaging	Het
Coil	C	A	11: 88,871,987 (GRCm39)	A116D	possibly damaging	Het
Eif1ad9	A	G	12: 88,296,196 (GRCm39)	H58R	probably benign	Het
F830045P16Rik	C	A	2: 129,305,493 (GRCm39)	V294F	probably damaging	Het
Fgd6	T	A	10: 93,969,939 (GRCm39)	M1196K	possibly damaging	Het
Gabra5	G	A	7: 57,140,604 (GRCm39)	S31L	probably benign	Het
Gm7135	A	T	1: 97,362,790 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,794,882 (GRCm39)	T695K	probably damaging	Het
Hectd4	A	G	5: 121,491,614 (GRCm39)	H3684R	possibly damaging	Het
Ica1l	T	A	1: 60,054,917 (GRCm39)	M105L	probably benign	Het
Ift70a1	A	G	2: 75,811,147 (GRCm39)	L312P	probably damaging	Het
Igkv8-24	A	T	6: 70,194,386 (GRCm39)	V7D	probably damaging	Het
Klf10	G	A	15: 38,296,331 (GRCm39)	R420W	probably damaging	Het
Klrc2	C	A	6: 129,633,843 (GRCm39)	W177C	probably damaging	Het
Krit1	T	A	5: 3,856,451 (GRCm39)	C15*	probably null	Het
Lamc1	C	A	1: 153,103,442 (GRCm39)	V1375L	probably damaging	Het
Lrrc37a	C	T	11: 103,347,780 (GRCm39)	V2972I	unknown	Het
Mapkapk5	T	C	5: 121,672,492 (GRCm39)	D13G	probably damaging	Het
Mcph1	T	A	8: 18,838,489 (GRCm39)	L804I	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrto4	A	G	4: 139,075,770 (GRCm39)	Y119H	probably benign	Het
Nbeal2	G	T	9: 110,461,158 (GRCm39)	A1635E	possibly damaging	Het
Ndc1	T	C	4: 107,246,773 (GRCm39)	S399P	probably benign	Het
Ndufv2	A	G	17: 66,394,424 (GRCm39)	I147T	probably damaging	Het
Neb	C	A	2: 52,052,142 (GRCm39)	E382*	probably null	Het
Nhsl3	C	T	4: 129,116,478 (GRCm39)	E729K	probably damaging	Het
Nme8	T	A	13: 19,880,861 (GRCm39)	I32F	probably damaging	Het
Obox5	T	A	7: 15,491,793 (GRCm39)		probably null	Het
Or8g23	A	G	9: 38,971,065 (GRCm39)	V299A	probably benign	Het
Pcdhb19	A	T	18: 37,630,939 (GRCm39)	M245L	probably benign	Het
Pex5l	A	T	3: 33,061,477 (GRCm39)		probably null	Het
Phrf1	T	G	7: 140,840,616 (GRCm39)	D1270E	probably damaging	Het
Pik3r5	A	G	11: 68,382,790 (GRCm39)	K277E	possibly damaging	Het
Ppan	T	C	9: 20,802,221 (GRCm39)	V204A	possibly damaging	Het
Ppp1r9a	A	T	6: 5,115,367 (GRCm39)	N830I	probably damaging	Het
Pxn	C	G	5: 115,682,974 (GRCm39)	A92G	probably benign	Het
Qsox1	A	G	1: 155,666,742 (GRCm39)	V249A	probably benign	Het
Rgl3	T	A	9: 21,898,944 (GRCm39)	*88C	probably null	Het
Rps6kc1	A	T	1: 190,515,802 (GRCm39)	W975R	probably damaging	Het
Sash1	G	T	10: 8,656,368 (GRCm39)	A208D	possibly damaging	Het
Simc1	A	T	13: 54,687,709 (GRCm39)		probably benign	Het
Sox7	T	C	14: 64,185,449 (GRCm39)	Y162H	probably damaging	Het
Srp72	T	A	5: 77,128,375 (GRCm39)	L171H	probably damaging	Het
Stab1	T	A	14: 30,881,476 (GRCm39)	Y577F	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tagln	T	C	9: 45,842,177 (GRCm39)	T139A	probably benign	Het
Thbs3	T	C	3: 89,130,471 (GRCm39)		probably null	Het
Tmem216	G	A	19: 10,529,155 (GRCm39)	T131M	possibly damaging	Het
Tmprss11c	A	G	5: 86,404,249 (GRCm39)	V142A	probably benign	Het
Trarg1	C	G	11: 76,585,102 (GRCm39)	A164G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubtf	T	C	11: 102,199,128 (GRCm39)	M511V	probably null	Het
Ugt2b36	A	T	5: 87,214,114 (GRCm39)	V510E	probably damaging	Het
Vars2	G	C	17: 35,969,041 (GRCm39)	P887A	probably damaging	Het
Vmn2r80	A	G	10: 79,004,980 (GRCm39)	M206V	possibly damaging	Het
Zbtb5	A	G	4: 44,993,990 (GRCm39)	F465L	probably benign	Het
Zfp119a	G	A	17: 56,172,425 (GRCm39)	Q473*	probably null	Het
Zfp607a	T	G	7: 27,577,269 (GRCm39)	I113R	probably damaging	Het
Zfp998	A	T	13: 66,581,787 (GRCm39)	L28H	probably damaging	Het

Other mutations in Zmym6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Zmym6	APN	4	126,995,742 (GRCm39)	nonsense	probably null
IGL00486:Zmym6	APN	4	127,017,978 (GRCm39)	utr 5 prime	probably benign
IGL01017:Zmym6	APN	4	126,982,152 (GRCm39)	missense	probably benign	0.00
IGL01385:Zmym6	APN	4	127,017,899 (GRCm39)	missense	probably benign	0.02
IGL01577:Zmym6	APN	4	126,999,223 (GRCm39)	missense	probably damaging	1.00
IGL01654:Zmym6	APN	4	127,017,519 (GRCm39)	missense	probably damaging	1.00
IGL01736:Zmym6	APN	4	127,002,437 (GRCm39)	missense	probably damaging	1.00
IGL01824:Zmym6	APN	4	127,002,499 (GRCm39)	missense	probably damaging	0.99
IGL01916:Zmym6	APN	4	127,017,549 (GRCm39)	missense	probably damaging	0.98
IGL01985:Zmym6	APN	4	126,994,541 (GRCm39)	missense	probably damaging	1.00
IGL02056:Zmym6	APN	4	126,997,207 (GRCm39)	missense	probably damaging	1.00
IGL02477:Zmym6	APN	4	126,972,295 (GRCm39)	nonsense	probably null
IGL02754:Zmym6	APN	4	127,003,764 (GRCm39)	splice site	probably benign
IGL03344:Zmym6	APN	4	127,014,314 (GRCm39)	missense	probably damaging	1.00
IGL03412:Zmym6	APN	4	126,986,731 (GRCm39)	missense	probably damaging	1.00
R0335:Zmym6	UTSW	4	127,016,601 (GRCm39)	missense	probably damaging	1.00
R0448:Zmym6	UTSW	4	127,002,487 (GRCm39)	missense	probably benign	0.01
R0463:Zmym6	UTSW	4	127,016,565 (GRCm39)	missense	probably damaging	0.98
R0538:Zmym6	UTSW	4	127,017,162 (GRCm39)	missense	probably benign	0.21
R0789:Zmym6	UTSW	4	127,016,615 (GRCm39)	missense	possibly damaging	0.52
R0798:Zmym6	UTSW	4	126,997,316 (GRCm39)	missense	probably benign	0.00
R1311:Zmym6	UTSW	4	127,017,151 (GRCm39)	missense	probably damaging	1.00
R1351:Zmym6	UTSW	4	127,016,798 (GRCm39)	missense	probably benign	0.00
R1429:Zmym6	UTSW	4	127,017,672 (GRCm39)	missense	probably damaging	1.00
R1636:Zmym6	UTSW	4	127,017,560 (GRCm39)	missense	probably damaging	0.99
R1666:Zmym6	UTSW	4	127,016,652 (GRCm39)	missense	probably damaging	0.98
R1919:Zmym6	UTSW	4	126,997,207 (GRCm39)	missense	probably damaging	1.00
R2058:Zmym6	UTSW	4	126,982,208 (GRCm39)	nonsense	probably null
R3957:Zmym6	UTSW	4	127,017,089 (GRCm39)	missense	possibly damaging	0.68
R3978:Zmym6	UTSW	4	127,017,348 (GRCm39)	missense	possibly damaging	0.71
R4417:Zmym6	UTSW	4	126,986,781 (GRCm39)	missense	probably damaging	1.00
R4801:Zmym6	UTSW	4	127,017,009 (GRCm39)	missense	probably benign	0.19
R4802:Zmym6	UTSW	4	127,017,009 (GRCm39)	missense	probably benign	0.19
R5052:Zmym6	UTSW	4	127,017,767 (GRCm39)	missense	possibly damaging	0.92
R5105:Zmym6	UTSW	4	127,017,551 (GRCm39)	missense	probably benign	0.33
R5682:Zmym6	UTSW	4	126,998,200 (GRCm39)	missense	probably damaging	1.00
R5841:Zmym6	UTSW	4	126,994,463 (GRCm39)	missense	possibly damaging	0.71
R5991:Zmym6	UTSW	4	127,002,266 (GRCm39)	splice site	probably null
R6478:Zmym6	UTSW	4	127,017,176 (GRCm39)	missense	possibly damaging	0.86
R7014:Zmym6	UTSW	4	127,017,337 (GRCm39)	nonsense	probably null
R7287:Zmym6	UTSW	4	127,016,775 (GRCm39)	missense	possibly damaging	0.50
R7290:Zmym6	UTSW	4	127,017,294 (GRCm39)	missense	possibly damaging	0.73
R7371:Zmym6	UTSW	4	126,998,106 (GRCm39)	missense	probably damaging	1.00
R7967:Zmym6	UTSW	4	127,016,453 (GRCm39)	missense	probably benign	0.03
R8237:Zmym6	UTSW	4	127,016,544 (GRCm39)	missense	probably damaging	0.99
R8306:Zmym6	UTSW	4	127,016,355 (GRCm39)	missense	probably damaging	1.00
R8312:Zmym6	UTSW	4	127,017,627 (GRCm39)	missense	probably damaging	1.00
R9090:Zmym6	UTSW	4	127,017,854 (GRCm39)	missense	probably damaging	0.99
R9216:Zmym6	UTSW	4	127,002,500 (GRCm39)	missense	probably benign	0.00
R9271:Zmym6	UTSW	4	127,017,854 (GRCm39)	missense	probably damaging	0.99
R9695:Zmym6	UTSW	4	127,016,340 (GRCm39)	missense	probably benign
X0025:Zmym6	UTSW	4	127,016,143 (GRCm39)	missense	possibly damaging	0.60
X0067:Zmym6	UTSW	4	126,998,107 (GRCm39)	missense	probably damaging	1.00
Z1177:Zmym6	UTSW	4	127,017,590 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCACTGCTGGCTGGGAATG -3'
(R):5'- TGGTGGGGAAAGAGACCTCC -3'

Sequencing Primer
(F):5'- TGAGCTCAGACACTGGACAGTC -3'
(R):5'- GGGAAAGAGACCTCCAGAAATCC -3'

Posted On

2016-07-22