Mutagenetix > Incidental Mutations

Incidental Mutation 'R1630:Morc3'

172760

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, 1110051N18Rik, 1110051N18Rik, D16Jhu32e

MMRRC Submission

039667-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1630 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93832121-93876073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93866533 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 541 (N541K)

Ref Sequence

ENSEMBL: ENSMUSP00000144369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044068] [ENSMUST00000201097] [ENSMUST00000202261]

Predicted Effect

probably benign
Transcript: ENSMUST00000044068
AA Change: N541K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: N541K

Domain	Start	End	E-Value	Type
Pfam:HATPase_c	25	130	8e-8	PFAM
Pfam:HATPase_c_3	26	164	1.1e-18	PFAM
Pfam:zf-CW	409	452	2.7e-19	PFAM
low complexity region	461	472	N/A	INTRINSIC
low complexity region	630	639	N/A	INTRINSIC
coiled coil region	765	871	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201097

SMART Domains

Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456

Domain	Start	End	E-Value	Type
Blast:HATPase_c	1	70	4e-39	BLAST
Pfam:zf-CW	340	383	1.2e-16	PFAM
low complexity region	392	403	N/A	INTRINSIC
low complexity region	557	566	N/A	INTRINSIC
coiled coil region	692	798	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000202261
AA Change: N541K

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: N541K

Domain	Start	End	E-Value	Type
Pfam:HATPase_c	25	130	8e-8	PFAM
Pfam:HATPase_c_3	26	164	1.1e-18	PFAM
Pfam:zf-CW	409	452	2.7e-19	PFAM
low complexity region	461	472	N/A	INTRINSIC
low complexity region	630	639	N/A	INTRINSIC
coiled coil region	765	871	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232425

Predicted Effect

probably benign
Transcript: ENSMUST00000232639

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a null allele die at or within a day of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429P17Rik	C	A	13: 47,960,725		noncoding transcript	Het
9930012K11Rik	T	C	14: 70,157,180	E175G	probably benign	Het
A630091E08Rik	A	G	7: 98,543,607		noncoding transcript	Het
Atm	A	T	9: 53,479,673	L1867Q	probably damaging	Het
Atp5a1	A	G	18: 77,777,567	D63G	possibly damaging	Het
Baz2b	A	T	2: 60,006,130	S20T	unknown	Het
C1qtnf7	G	A	5: 43,609,161	C34Y	possibly damaging	Het
Cactin	A	G	10: 81,323,725	T353A	probably benign	Het
Cdyl	A	G	13: 35,683,803	K21E	possibly damaging	Het
Crispld1	A	G	1: 17,728,798	T48A	probably benign	Het
Csmd3	T	A	15: 47,838,522	T1722S	possibly damaging	Het
Dapk1	A	T	13: 60,729,531	E528V	probably damaging	Het
Dennd4a	A	G	9: 64,871,882	D549G	probably benign	Het
Dnajc5b	C	A	3: 19,574,741	N66K	probably damaging	Het
Dusp16	G	T	6: 134,720,561	R250S	probably damaging	Het
F10	A	G	8: 13,055,551	N384S	probably benign	Het
Gabrr2	A	G	4: 33,085,647	S331G	probably damaging	Het
Gm12185	A	C	11: 48,907,890	I592S	probably benign	Het
Gm9755	T	C	8: 67,514,660		noncoding transcript	Het
Hspg2	T	C	4: 137,518,435	L913P	probably damaging	Het
Ifna1	T	A	4: 88,850,329	S81R	probably benign	Het
Iqgap2	T	C	13: 95,689,785	K510E	probably benign	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lhx6	A	G	2: 36,102,901	Y140H	probably damaging	Het
Lix1	A	G	17: 17,457,158	H205R	probably damaging	Het
Masp2	A	T	4: 148,614,033	T524S	probably benign	Het
Mndal	A	C	1: 173,874,392	F115V	possibly damaging	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myocd	A	G	11: 65,196,394	S236P	probably damaging	Het
Nes	T	A	3: 87,977,677	V1037E	probably benign	Het
Nfkbil1	A	G	17: 35,221,164	W178R	probably damaging	Het
Nobox	A	T	6: 43,307,212	C8*	probably null	Het
Nwd1	A	G	8: 72,667,029	T348A	possibly damaging	Het
Olfr1048	A	G	2: 86,236,086	S243P	probably damaging	Het
Olfr1350	T	C	7: 6,570,674	S228P	probably damaging	Het
Olfr382	T	C	11: 73,516,720	T160A	probably damaging	Het
Osbp2	T	C	11: 3,717,167	T448A	probably benign	Het
Plrg1	A	G	3: 83,058,763	D75G	probably benign	Het
Ppp1r8	T	C	4: 132,829,437	E213G	probably benign	Het
Rad54l2	A	G	9: 106,703,629	F898L	possibly damaging	Het
Rapgef6	TG	TGG	11: 54,546,397		probably null	Het
Rasl10a	G	C	11: 5,059,542	R110P	probably damaging	Het
Rttn	T	C	18: 89,042,954	I1082T	probably benign	Het
Sema6d	A	G	2: 124,664,345	D734G	possibly damaging	Het
Sgce	C	T	6: 4,719,476	V44M	probably damaging	Het
Sgo2b	A	G	8: 63,927,797	V667A	possibly damaging	Het
Shcbp1	A	T	8: 4,748,763	C118*	probably null	Het
Slain2	C	T	5: 72,976,004	P563S	probably damaging	Het
Slco1b2	A	T	6: 141,656,821	I167F	probably damaging	Het
Speg	T	C	1: 75,422,977	L2356P	probably damaging	Het
Sptbn4	A	G	7: 27,418,739	V305A	probably benign	Het
Sspo	G	A	6: 48,457,724	R1050H	probably benign	Het
Tmem106b	A	G	6: 13,081,541	N149S	probably benign	Het
Tmem200a	T	C	10: 25,992,914	T486A	probably damaging	Het
Tmem212	T	A	3: 27,885,101	T79S	possibly damaging	Het
Ttll11	A	G	2: 35,889,325	V471A	probably damaging	Het
Vill	A	G	9: 119,070,701	N318D	probably benign	Het
Vmn2r102	A	G	17: 19,678,770	D458G	possibly damaging	Het
Zfp472	T	A	17: 32,977,978	C342*	probably null	Het
Zfp963	A	T	8: 69,744,187		probably benign	Het

Other mutations in Morc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Morc3	APN	16	93873395	critical splice donor site	probably null
IGL01015:Morc3	APN	16	93862646	missense	probably damaging	1.00
IGL01374:Morc3	APN	16	93844213	missense	probably damaging	1.00
IGL01634:Morc3	APN	16	93873237	missense	probably benign	0.02
IGL01845:Morc3	APN	16	93860567	missense	probably damaging	0.96
IGL02202:Morc3	APN	16	93870861	missense	probably benign	0.01
IGL02478:Morc3	APN	16	93864956	splice site	probably benign
IGL03026:Morc3	APN	16	93862724	splice site	probably benign
IGL03115:Morc3	APN	16	93871083	missense	probably damaging	0.99
Ballista	UTSW	16	93841383	missense	probably damaging	1.00
mindy	UTSW	16	93866533	missense	probably benign	0.03
Pfaff	UTSW	16	93862684	missense	probably damaging	0.96
shield	UTSW	16	93874812	missense	probably damaging	0.98
sparkle	UTSW	16	93870474	missense	probably damaging	1.00
Stooges	UTSW	16	93841387	missense	probably damaging	1.00
Sword	UTSW	16	93874757	critical splice acceptor site	probably null
R0173:Morc3	UTSW	16	93832206	splice site	probably null
R0413:Morc3	UTSW	16	93870474	missense	probably damaging	1.00
R0639:Morc3	UTSW	16	93853850	missense	probably damaging	1.00
R0842:Morc3	UTSW	16	93873396	critical splice donor site	probably null
R1134:Morc3	UTSW	16	93870669	missense	probably benign
R1162:Morc3	UTSW	16	93853108	missense	probably damaging	1.00
R1498:Morc3	UTSW	16	93853855	missense	probably damaging	1.00
R1520:Morc3	UTSW	16	93844241	missense	probably damaging	0.96
R1603:Morc3	UTSW	16	93866503	missense	probably benign
R1622:Morc3	UTSW	16	93874806	missense	probably benign	0.28
R1818:Morc3	UTSW	16	93855510	missense	probably damaging	1.00
R1902:Morc3	UTSW	16	93870497	missense	probably damaging	1.00
R2090:Morc3	UTSW	16	93866453	missense	probably benign	0.23
R2261:Morc3	UTSW	16	93853221	splice site	probably benign
R2360:Morc3	UTSW	16	93841387	missense	probably damaging	1.00
R2407:Morc3	UTSW	16	93844327	critical splice donor site	probably null
R2519:Morc3	UTSW	16	93862539	splice site	probably null
R3736:Morc3	UTSW	16	93874812	missense	probably damaging	0.98
R3873:Morc3	UTSW	16	93862436	missense	probably damaging	0.99
R4114:Morc3	UTSW	16	93873339	missense	probably benign	0.01
R4115:Morc3	UTSW	16	93873339	missense	probably benign	0.01
R4116:Morc3	UTSW	16	93873339	missense	probably benign	0.01
R4472:Morc3	UTSW	16	93874757	critical splice acceptor site	probably null
R4609:Morc3	UTSW	16	93864968	missense	probably benign	0.01
R4708:Morc3	UTSW	16	93873238	missense	probably benign	0.19
R4883:Morc3	UTSW	16	93870362	critical splice acceptor site	probably null
R4945:Morc3	UTSW	16	93871194	missense	probably damaging	1.00
R4965:Morc3	UTSW	16	93860587	nonsense	probably null
R5399:Morc3	UTSW	16	93862539	splice site	probably null
R5481:Morc3	UTSW	16	93862655	missense	probably damaging	0.99
R5540:Morc3	UTSW	16	93847380	missense	probably benign
R5970:Morc3	UTSW	16	93866453	missense	possibly damaging	0.65
R6006:Morc3	UTSW	16	93866493	missense	possibly damaging	0.67
R6044:Morc3	UTSW	16	93866442	missense	probably benign	0.02
R6045:Morc3	UTSW	16	93874845	missense	probably damaging	1.00
R6155:Morc3	UTSW	16	93862425	missense	possibly damaging	0.94
R6165:Morc3	UTSW	16	93841383	missense	probably damaging	1.00
R6225:Morc3	UTSW	16	93845194	nonsense	probably null
R6240:Morc3	UTSW	16	93862684	missense	probably damaging	0.96
R6835:Morc3	UTSW	16	93847421	missense	probably damaging	1.00
R6918:Morc3	UTSW	16	93853135	missense	probably benign	0.36
R6944:Morc3	UTSW	16	93870572	missense	probably benign
R7311:Morc3	UTSW	16	93849173	missense	probably damaging	1.00
R7398:Morc3	UTSW	16	93874860	missense	probably damaging	1.00
R7553:Morc3	UTSW	16	93870936	missense	probably damaging	0.98
R8056:Morc3	UTSW	16	93845176	missense	probably benign	0.07
R8299:Morc3	UTSW	16	93853200	missense	probably damaging	1.00
R8317:Morc3	UTSW	16	93862529	missense	probably benign	0.25
R8542:Morc3	UTSW	16	93847431	critical splice donor site	probably null
X0023:Morc3	UTSW	16	93847399	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGCTCATTCAGTTTACTGGTCC -3'
(R):5'- TGCTGTGATCAACCCAGCAAGAG -3'

Sequencing Primer
(F):5'- AGAAAGAGATTGCGTGTATCTTG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2014-04-24