Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Zmym1'

367237

Institutional Source

Beutler Lab

Gene Symbol

Zmym1

Ensembl Gene

ENSMUSG00000043872

Gene Name

zinc finger, MYM domain containing 1

Synonyms

5830412B09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126940887-126954945 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126948090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 94 (T94A)

Ref Sequence

ENSEMBL: ENSMUSP00000101708 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055013] [ENSMUST00000106099] [ENSMUST00000106102] [ENSMUST00000136186]

AlphaFold

Q3TJB1

Predicted Effect

probably benign
Transcript: ENSMUST00000055013
AA Change: T94A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050669
Gene: ENSMUSG00000043872
AA Change: T94A

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	2.4e-8	PFAM
Pfam:zf-FCS	53	96	1.6e-10	PFAM
low complexity region	155	168	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:DUF4371	335	569	4.9e-55	PFAM
Pfam:Dimer_Tnp_hAT	870	959	5.1e-18	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000106099
AA Change: T94A

SMART Domains

Protein: ENSMUSP00000101705
Gene: ENSMUSG00000043872
AA Change: T94A

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	3.3e-9	PFAM
Pfam:zf-FCS	53	96	4.6e-10	PFAM
low complexity region	155	168	N/A	INTRINSIC
Pfam:DUF4371	237	471	2.8e-52	PFAM
Pfam:Dimer_Tnp_hAT	772	861	5.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106102
AA Change: T94A

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101708
Gene: ENSMUSG00000043872
AA Change: T94A

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	7.8e-9	PFAM
Pfam:zf-FCS	53	96	1.1e-9	PFAM
low complexity region	155	168	N/A	INTRINSIC
low complexity region	229	243	N/A	INTRINSIC
Pfam:DUF4371	335	569	7.4e-52	PFAM
Pfam:Dimer_Tnp_hAT	870	959	1.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119262

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124429

Predicted Effect

probably benign
Transcript: ENSMUST00000136186

SMART Domains

Protein: ENSMUSP00000120772
Gene: ENSMUSG00000043872

Domain	Start	End	E-Value	Type
Pfam:zf-FCS	6	46	1.5e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137236

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152607

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gabra1	G	T	11: 42,037,980 (GRCm39)	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or4a81	G	A	2: 89,619,480 (GRCm39)	S72F	probably damaging	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pappa2	A	G	1: 158,611,487 (GRCm39)	V1492A	possibly damaging	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Ptf1a	T	C	2: 19,450,762 (GRCm39)	S31P	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het

Other mutations in Zmym1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Zmym1	APN	4	126,943,435 (GRCm39)	missense	probably damaging	1.00
IGL02326:Zmym1	APN	4	126,941,553 (GRCm39)	missense	probably damaging	1.00
IGL02392:Zmym1	APN	4	126,942,256 (GRCm39)	missense	probably damaging	1.00
IGL02431:Zmym1	APN	4	126,941,557 (GRCm39)	nonsense	probably null
IGL02512:Zmym1	APN	4	126,942,465 (GRCm39)	missense	probably damaging	1.00
IGL03303:Zmym1	APN	4	126,942,927 (GRCm39)	missense	probably damaging	1.00
BB009:Zmym1	UTSW	4	126,944,578 (GRCm39)	missense	possibly damaging	0.77
BB019:Zmym1	UTSW	4	126,944,578 (GRCm39)	missense	possibly damaging	0.77
R0195:Zmym1	UTSW	4	126,941,704 (GRCm39)	missense	possibly damaging	0.85
R0266:Zmym1	UTSW	4	126,941,818 (GRCm39)	missense	possibly damaging	0.86
R0416:Zmym1	UTSW	4	126,952,613 (GRCm39)	missense	probably benign	0.00
R1374:Zmym1	UTSW	4	126,943,404 (GRCm39)	missense	probably damaging	1.00
R1480:Zmym1	UTSW	4	126,942,405 (GRCm39)	missense	probably damaging	0.99
R1704:Zmym1	UTSW	4	126,942,177 (GRCm39)	missense	probably damaging	1.00
R1806:Zmym1	UTSW	4	126,941,872 (GRCm39)	missense	probably damaging	1.00
R1815:Zmym1	UTSW	4	126,942,814 (GRCm39)	missense	possibly damaging	0.76
R2124:Zmym1	UTSW	4	126,943,363 (GRCm39)	missense	probably benign	0.05
R2169:Zmym1	UTSW	4	126,947,996 (GRCm39)	splice site	probably null
R4027:Zmym1	UTSW	4	126,943,672 (GRCm39)	missense	probably benign	0.08
R4410:Zmym1	UTSW	4	126,941,897 (GRCm39)	nonsense	probably null
R4572:Zmym1	UTSW	4	126,944,628 (GRCm39)	missense	probably benign	0.39
R5120:Zmym1	UTSW	4	126,945,230 (GRCm39)	splice site	probably null
R5130:Zmym1	UTSW	4	126,942,451 (GRCm39)	missense	probably damaging	1.00
R5615:Zmym1	UTSW	4	126,943,191 (GRCm39)	missense	probably damaging	1.00
R6190:Zmym1	UTSW	4	126,941,677 (GRCm39)	missense	probably damaging	0.99
R7426:Zmym1	UTSW	4	126,943,191 (GRCm39)	missense	possibly damaging	0.81
R7464:Zmym1	UTSW	4	126,952,728 (GRCm39)	nonsense	probably null
R7540:Zmym1	UTSW	4	126,942,550 (GRCm39)	missense	probably benign
R7779:Zmym1	UTSW	4	126,948,038 (GRCm39)	missense	probably benign
R7807:Zmym1	UTSW	4	126,941,667 (GRCm39)	missense	probably damaging	1.00
R7876:Zmym1	UTSW	4	126,941,496 (GRCm39)	missense	probably damaging	0.98
R7932:Zmym1	UTSW	4	126,944,578 (GRCm39)	missense	possibly damaging	0.77
R8183:Zmym1	UTSW	4	126,952,649 (GRCm39)	missense	probably benign	0.07
R8276:Zmym1	UTSW	4	126,948,051 (GRCm39)	missense	probably damaging	0.99
R8744:Zmym1	UTSW	4	126,945,165 (GRCm39)	missense	probably damaging	1.00
R8798:Zmym1	UTSW	4	126,943,664 (GRCm39)	missense	possibly damaging	0.90
R9199:Zmym1	UTSW	4	126,944,623 (GRCm39)	missense	possibly damaging	0.80
R9385:Zmym1	UTSW	4	126,952,683 (GRCm39)	missense	probably damaging	1.00
T0722:Zmym1	UTSW	4	126,943,466 (GRCm39)	missense	probably benign	0.05
T0722:Zmym1	UTSW	4	126,942,043 (GRCm39)	missense	probably benign	0.01
T0722:Zmym1	UTSW	4	126,941,740 (GRCm39)	missense	probably benign	0.00
T0975:Zmym1	UTSW	4	126,943,466 (GRCm39)	missense	probably benign	0.05
T0975:Zmym1	UTSW	4	126,942,043 (GRCm39)	missense	probably benign	0.01
T0975:Zmym1	UTSW	4	126,941,740 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGAATTTCTGCCAAGACTAGAAC -3'
(R):5'- GACAGCATCCTTAATTTCTGGAAC -3'

Sequencing Primer
(F):5'- TTTCTGCCAAGACTAGAACAATAGC -3'
(R):5'- CAGCATAGCCCATACAGTGATTCTTG -3'

Posted On

2015-12-29