Mutagenetix > Incidental Mutation

Incidental Mutation 'R2360:Morc3'

247132

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik

MMRRC Submission

040342-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93629009-93672961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93638275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 19 (L19S)

Ref Sequence

ENSEMBL: ENSMUSP00000144369 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044068] [ENSMUST00000201097] [ENSMUST00000201754] [ENSMUST00000202261]

AlphaFold

F7BJB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000044068
AA Change: L19S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: L19S

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

noncoding transcript
Transcript: ENSMUST00000201497

Predicted Effect

probably damaging
Transcript: ENSMUST00000201754
AA Change: L19S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456
AA Change: L19S

Domain	Start	End	E-Value	Type
Pfam:HATPase_c	25	91	1.3e-6	PFAM
Pfam:HATPase_c_3	26	92	1.2e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000202261
AA Change: L19S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: L19S

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: ENSMUST00000202663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232425

Meta Mutation Damage Score

0.9655

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

93% (37/40)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,214 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,850,431 (GRCm39)	E761G	probably benign	Het
Apc	C	T	18: 34,394,179 (GRCm39)	T35I	probably damaging	Het
Arhgef2	T	A	3: 88,541,723 (GRCm39)	I228N	probably damaging	Het
Atp6v1g2	A	G	17: 35,456,638 (GRCm39)	E74G	probably damaging	Het
Ccdc70	A	G	8: 22,463,447 (GRCm39)	E79G	probably damaging	Het
Cdc42ep4	A	G	11: 113,619,528 (GRCm39)	S288P	probably damaging	Het
Cip2a	C	T	16: 48,837,828 (GRCm39)	Q843*	probably null	Het
Cpn2	T	C	16: 30,078,321 (GRCm39)	D460G	probably benign	Het
Crtam	A	G	9: 40,884,811 (GRCm39)	*393Q	probably null	Het
Cwc22	A	G	2: 77,757,591 (GRCm39)	I179T	probably damaging	Het
Cyp3a41b	T	C	5: 145,507,221 (GRCm39)	M240V	probably benign	Het
Dnah8	A	T	17: 30,896,178 (GRCm39)	D864V	probably benign	Het
Map3k7	T	C	4: 31,964,302 (GRCm39)	S14P	unknown	Het
Med25	A	G	7: 44,534,566 (GRCm39)	S150P	probably damaging	Het
Mex3b	T	C	7: 82,517,070 (GRCm39)	V71A	probably benign	Het
Morn1	T	A	4: 155,176,770 (GRCm39)	S98T	probably damaging	Het
Mthfd1l	G	T	10: 4,006,771 (GRCm39)	A678S	probably damaging	Het
Napa	A	G	7: 15,848,083 (GRCm39)	Y200C	probably damaging	Het
Nr5a2	T	C	1: 136,876,565 (GRCm39)	I33V	probably benign	Het
Or14j6	A	G	17: 38,215,345 (GRCm39)	K303E	possibly damaging	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Phf20l1	G	A	15: 66,466,769 (GRCm39)	R66Q	probably damaging	Het
Resf1	A	G	6: 149,236,145 (GRCm39)	I1488M	probably benign	Het
Rfk	A	G	19: 17,375,960 (GRCm39)	T85A	probably benign	Het
Sbno2	T	C	10: 79,893,855 (GRCm39)	D1179G	possibly damaging	Het
Serpina3k	C	T	12: 104,307,166 (GRCm39)	Q133*	probably null	Het
Setd4	T	C	16: 93,383,122 (GRCm39)		probably benign	Het
Sh2d4b	C	T	14: 40,582,548 (GRCm39)		probably null	Het
Slc1a6	G	A	10: 78,648,718 (GRCm39)	V480I	possibly damaging	Het
Slc39a3	A	T	10: 80,867,104 (GRCm39)	V214E	possibly damaging	Het
Tll1	A	G	8: 64,504,435 (GRCm39)	Y654H	probably damaging	Het
Traf3ip1	T	A	1: 91,427,374 (GRCm39)	C115S	unknown	Het
Vmn1r209	T	A	13: 22,989,836 (GRCm39)	I285F	probably damaging	Het
Vmn2r87	G	T	10: 130,315,631 (GRCm39)	T145K	probably damaging	Het
Zan	T	C	5: 137,394,388 (GRCm39)	T4484A	unknown	Het
Zfp768	T	C	7: 126,943,810 (GRCm39)	E106G	probably benign	Het
Zfp984	A	G	4: 147,839,234 (GRCm39)	I539T	possibly damaging	Het

Other mutations in Morc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Morc3	APN	16	93,670,283 (GRCm39)	critical splice donor site	probably null
IGL01015:Morc3	APN	16	93,659,534 (GRCm39)	missense	probably damaging	1.00
IGL01374:Morc3	APN	16	93,641,101 (GRCm39)	missense	probably damaging	1.00
IGL01634:Morc3	APN	16	93,670,125 (GRCm39)	missense	probably benign	0.02
IGL01845:Morc3	APN	16	93,657,455 (GRCm39)	missense	probably damaging	0.96
IGL02202:Morc3	APN	16	93,667,749 (GRCm39)	missense	probably benign	0.01
IGL02478:Morc3	APN	16	93,661,844 (GRCm39)	splice site	probably benign
IGL03026:Morc3	APN	16	93,659,612 (GRCm39)	splice site	probably benign
IGL03115:Morc3	APN	16	93,667,971 (GRCm39)	missense	probably damaging	0.99
Ballista	UTSW	16	93,638,271 (GRCm39)	missense	probably damaging	1.00
mindy	UTSW	16	93,663,421 (GRCm39)	missense	probably benign	0.03
Pfaff	UTSW	16	93,659,572 (GRCm39)	missense	probably damaging	0.96
shield	UTSW	16	93,671,700 (GRCm39)	missense	probably damaging	0.98
sparkle	UTSW	16	93,667,362 (GRCm39)	missense	probably damaging	1.00
Stooges	UTSW	16	93,638,275 (GRCm39)	missense	probably damaging	1.00
Sword	UTSW	16	93,671,645 (GRCm39)	critical splice acceptor site	probably null
R0173:Morc3	UTSW	16	93,629,094 (GRCm39)	splice site	probably null
R0413:Morc3	UTSW	16	93,667,362 (GRCm39)	missense	probably damaging	1.00
R0639:Morc3	UTSW	16	93,650,738 (GRCm39)	missense	probably damaging	1.00
R0842:Morc3	UTSW	16	93,670,284 (GRCm39)	critical splice donor site	probably null
R1134:Morc3	UTSW	16	93,667,557 (GRCm39)	missense	probably benign
R1162:Morc3	UTSW	16	93,649,996 (GRCm39)	missense	probably damaging	1.00
R1498:Morc3	UTSW	16	93,650,743 (GRCm39)	missense	probably damaging	1.00
R1520:Morc3	UTSW	16	93,641,129 (GRCm39)	missense	probably damaging	0.96
R1603:Morc3	UTSW	16	93,663,391 (GRCm39)	missense	probably benign
R1622:Morc3	UTSW	16	93,671,694 (GRCm39)	missense	probably benign	0.28
R1630:Morc3	UTSW	16	93,663,421 (GRCm39)	missense	probably benign	0.03
R1818:Morc3	UTSW	16	93,652,398 (GRCm39)	missense	probably damaging	1.00
R1902:Morc3	UTSW	16	93,667,385 (GRCm39)	missense	probably damaging	1.00
R2090:Morc3	UTSW	16	93,663,341 (GRCm39)	missense	probably benign	0.23
R2261:Morc3	UTSW	16	93,650,109 (GRCm39)	splice site	probably benign
R2407:Morc3	UTSW	16	93,641,215 (GRCm39)	critical splice donor site	probably null
R2519:Morc3	UTSW	16	93,659,427 (GRCm39)	splice site	probably null
R3736:Morc3	UTSW	16	93,671,700 (GRCm39)	missense	probably damaging	0.98
R3873:Morc3	UTSW	16	93,659,324 (GRCm39)	missense	probably damaging	0.99
R4114:Morc3	UTSW	16	93,670,227 (GRCm39)	missense	probably benign	0.01
R4115:Morc3	UTSW	16	93,670,227 (GRCm39)	missense	probably benign	0.01
R4116:Morc3	UTSW	16	93,670,227 (GRCm39)	missense	probably benign	0.01
R4472:Morc3	UTSW	16	93,671,645 (GRCm39)	critical splice acceptor site	probably null
R4609:Morc3	UTSW	16	93,661,856 (GRCm39)	missense	probably benign	0.01
R4708:Morc3	UTSW	16	93,670,126 (GRCm39)	missense	probably benign	0.19
R4883:Morc3	UTSW	16	93,667,250 (GRCm39)	critical splice acceptor site	probably null
R4945:Morc3	UTSW	16	93,668,082 (GRCm39)	missense	probably damaging	1.00
R4965:Morc3	UTSW	16	93,657,475 (GRCm39)	nonsense	probably null
R5399:Morc3	UTSW	16	93,659,427 (GRCm39)	splice site	probably null
R5481:Morc3	UTSW	16	93,659,543 (GRCm39)	missense	probably damaging	0.99
R5540:Morc3	UTSW	16	93,644,268 (GRCm39)	missense	probably benign
R5970:Morc3	UTSW	16	93,663,341 (GRCm39)	missense	possibly damaging	0.65
R6006:Morc3	UTSW	16	93,663,381 (GRCm39)	missense	possibly damaging	0.67
R6044:Morc3	UTSW	16	93,663,330 (GRCm39)	missense	probably benign	0.02
R6045:Morc3	UTSW	16	93,671,733 (GRCm39)	missense	probably damaging	1.00
R6155:Morc3	UTSW	16	93,659,313 (GRCm39)	missense	possibly damaging	0.94
R6165:Morc3	UTSW	16	93,638,271 (GRCm39)	missense	probably damaging	1.00
R6225:Morc3	UTSW	16	93,642,082 (GRCm39)	nonsense	probably null
R6240:Morc3	UTSW	16	93,659,572 (GRCm39)	missense	probably damaging	0.96
R6835:Morc3	UTSW	16	93,644,309 (GRCm39)	missense	probably damaging	1.00
R6918:Morc3	UTSW	16	93,650,023 (GRCm39)	missense	probably benign	0.36
R6944:Morc3	UTSW	16	93,667,460 (GRCm39)	missense	probably benign
R7311:Morc3	UTSW	16	93,646,061 (GRCm39)	missense	probably damaging	1.00
R7398:Morc3	UTSW	16	93,671,748 (GRCm39)	missense	probably damaging	1.00
R7553:Morc3	UTSW	16	93,667,824 (GRCm39)	missense	probably damaging	0.98
R8056:Morc3	UTSW	16	93,642,064 (GRCm39)	missense	probably benign	0.07
R8299:Morc3	UTSW	16	93,650,088 (GRCm39)	missense	probably damaging	1.00
R8317:Morc3	UTSW	16	93,659,417 (GRCm39)	missense	probably benign	0.25
R8542:Morc3	UTSW	16	93,644,319 (GRCm39)	critical splice donor site	probably null
R8697:Morc3	UTSW	16	93,667,908 (GRCm39)	missense	probably benign	0.00
R8739:Morc3	UTSW	16	93,657,398 (GRCm39)	missense	probably damaging	1.00
R9072:Morc3	UTSW	16	93,667,482 (GRCm39)	missense	probably benign	0.00
R9235:Morc3	UTSW	16	93,659,321 (GRCm39)	missense	probably damaging	1.00
R9305:Morc3	UTSW	16	93,667,302 (GRCm39)	missense	probably benign	0.00
R9405:Morc3	UTSW	16	93,642,036 (GRCm39)	missense	probably damaging	1.00
R9431:Morc3	UTSW	16	93,667,771 (GRCm39)	nonsense	probably null
R9440:Morc3	UTSW	16	93,649,975 (GRCm39)	critical splice acceptor site	probably null
R9524:Morc3	UTSW	16	93,667,401 (GRCm39)	missense	probably benign	0.09
R9571:Morc3	UTSW	16	93,641,107 (GRCm39)	missense	possibly damaging	0.89
X0023:Morc3	UTSW	16	93,644,287 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCCACTGTTTGACTGTAAG -3'
(R):5'- AAGTAGGAATGCACACTGTTACTC -3'

Sequencing Primer
(F):5'- AAGCTCTGCATTGTGGACAC -3'
(R):5'- CTCAGGATACACTTTGAAAAGGC -3'

Posted On

2014-10-30