Mutagenetix > Incidental Mutation

Incidental Mutation 'R6835:Morc3'

534414

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik

MMRRC Submission

044944-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93629009-93672961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93644309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 200 (N200I)

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: N200I

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

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: N200I

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 damaging
Transcript: ENSMUST00000201097
AA Change: N129I

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

SMART Domains

Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: N129I

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: ENSMUST00000201754

SMART Domains

Protein: ENSMUSP00000144357
Gene: ENSMUSG00000039456

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: N200I

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

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: N200I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	G	9: 107,807,761 (GRCm39)	R695G	probably benign	Het
Arhgef4	A	G	1: 34,845,574 (GRCm39)	H1533R	probably damaging	Het
Birc6	T	C	17: 74,949,499 (GRCm39)	L3120P	probably damaging	Het
Cfap46	T	A	7: 139,232,414 (GRCm39)	I850F	probably damaging	Het
Crym	A	C	7: 119,785,868 (GRCm39)	S311A	probably benign	Het
Cttn	T	C	7: 144,010,234 (GRCm39)		probably null	Het
Dtnb	C	T	12: 3,682,841 (GRCm39)		probably benign	Het
Edem1	T	C	6: 108,831,360 (GRCm39)	V607A	probably benign	Het
Etfa	A	G	9: 55,403,103 (GRCm39)	V64A	probably benign	Het
Fam133b	A	G	5: 3,604,732 (GRCm39)	T40A	possibly damaging	Het
Fmn2	C	A	1: 174,527,235 (GRCm39)	D1442E	probably damaging	Het
Gpi1	T	C	7: 33,926,563 (GRCm39)	K128E	possibly damaging	Het
Gpr179	A	T	11: 97,238,293 (GRCm39)	F310L	probably damaging	Het
Hdac7	T	A	15: 97,700,628 (GRCm39)	H531L	probably damaging	Het
Hfm1	G	A	5: 107,026,681 (GRCm39)	R145*	probably null	Het
Hsp90b1	A	T	10: 86,529,949 (GRCm39)	D573E	probably damaging	Het
Hunk	T	G	16: 90,269,412 (GRCm39)	W243G	probably damaging	Het
Icam1	G	T	9: 20,938,421 (GRCm39)	G327W	possibly damaging	Het
Ino80d	C	A	1: 63,113,485 (GRCm39)	A322S	probably benign	Het
Irag1	T	G	7: 110,520,541 (GRCm39)	E278A	probably damaging	Het
Itpkc	A	C	7: 26,927,240 (GRCm39)	S225A	probably benign	Het
Krt75	C	T	15: 101,479,472 (GRCm39)	R286Q	probably benign	Het
Lmnb2	A	G	10: 80,745,794 (GRCm39)	L95P	probably damaging	Het
Mns1	T	C	9: 72,360,026 (GRCm39)	M392T	probably damaging	Het
Myadm	T	C	7: 3,346,192 (GRCm39)	V318A	possibly damaging	Het
Nt5dc1	A	C	10: 34,186,375 (GRCm39)	S398A	probably benign	Het
Or13c7	T	C	4: 43,854,912 (GRCm39)	V201A	probably benign	Het
Or1e31	A	G	11: 73,690,061 (GRCm39)	I174T	possibly damaging	Het
Pcdhga2	T	C	18: 37,803,842 (GRCm39)	I562T	probably damaging	Het
Pcdhgb1	T	A	18: 37,813,553 (GRCm39)	C15S	probably benign	Het
Pikfyve	T	G	1: 65,298,002 (GRCm39)	L1532R	probably damaging	Het
Rdh7	T	A	10: 127,720,608 (GRCm39)	T255S	probably benign	Het
Rtel1	A	G	2: 180,997,746 (GRCm39)	T1165A	probably benign	Het
Sdk2	C	T	11: 113,720,874 (GRCm39)	A1352T	probably damaging	Het
Strip2	T	C	6: 29,941,916 (GRCm39)	S629P	probably damaging	Het
Taf5	A	G	19: 47,065,776 (GRCm39)	T494A	possibly damaging	Het
Tek	T	G	4: 94,741,671 (GRCm39)	N809K	possibly damaging	Het
Tmbim7	A	T	5: 3,711,943 (GRCm39)	T63S	probably benign	Het
Utrn	A	T	10: 12,603,508 (GRCm39)	L624Q	probably damaging	Het
Xbp1	A	G	11: 5,471,809 (GRCm39)		probably benign	Het
Zbp1	T	A	2: 173,055,704 (GRCm39)		probably null	Het
Zfp112	T	C	7: 23,825,231 (GRCm39)	C400R	probably damaging	Het
Zfp202	C	T	9: 40,121,531 (GRCm39)		probably null	Het
Zfp747	T	C	7: 126,973,219 (GRCm39)	E317G	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
R2360:Morc3	UTSW	16	93,638,275 (GRCm39)	missense	probably damaging	1.00
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
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'- AGCTGGTTCCCGTATTACAATTATG -3'
(R):5'- GTGCTGCTGGGAACTGAATG -3'

Sequencing Primer
(F):5'- GCAAGCCTAGCAGCAAT -3'
(R):5'- CTGAATGACAGGACTAAGAGCAATTG -3'

Posted On

2018-09-12