Mutagenetix > Incidental Mutation

Incidental Mutation 'R4116:Morc3'

314654

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik

MMRRC Submission

040859-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4116 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93629009-93672961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93670227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 801 (D801N)

Ref Sequence

ENSEMBL: ENSMUSP00000144058 (fasta)

Gene Model

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

AlphaFold

F7BJB9

Predicted Effect

probably benign
Transcript: ENSMUST00000044068
AA Change: D874N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: D874N

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
AA Change: D801N

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: D801N

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: D874N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: D874N

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

0.0836

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

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
Abcc10	A	T	17: 46,634,817 (GRCm39)	F395L	possibly damaging	Het
Amigo1	C	T	3: 108,095,761 (GRCm39)	T420I	probably damaging	Het
Ankrd34c	A	G	9: 89,611,927 (GRCm39)	L138P	probably damaging	Het
Cald1	C	T	6: 34,722,654 (GRCm39)	R107C	probably damaging	Het
Cast	C	T	13: 74,872,956 (GRCm39)	E444K	probably damaging	Het
Ccdc121rt2	A	G	5: 112,598,377 (GRCm39)	E308G	probably damaging	Het
Crybg1	T	G	10: 43,875,158 (GRCm39)	N650T	possibly damaging	Het
Cyp19a1	T	A	9: 54,076,025 (GRCm39)	R276S	possibly damaging	Het
Cyp2c66	A	G	19: 39,165,003 (GRCm39)	D328G	possibly damaging	Het
Hectd1	A	T	12: 51,815,506 (GRCm39)	L1527*	probably null	Het
Hoxd13	C	A	2: 74,498,832 (GRCm39)	A60E	possibly damaging	Het
Igkv3-7	G	T	6: 70,584,923 (GRCm39)	G88C	probably damaging	Het
Kcnk12	GGCATCGC	GGCATCGCATCGC	17: 88,053,584 (GRCm39)		probably null	Het
Klhl30	C	A	1: 91,281,830 (GRCm39)	Q144K	probably benign	Het
Kprp	A	T	3: 92,731,275 (GRCm39)	S592T	probably damaging	Het
Man2c1	T	C	9: 57,047,589 (GRCm39)		probably null	Het
Mbtps1	A	T	8: 120,268,391 (GRCm39)	M260K	probably benign	Het
Mpped1	A	G	15: 83,680,910 (GRCm39)		probably benign	Het
Mtcl1	T	C	17: 66,673,476 (GRCm39)	T767A	probably benign	Het
Nek5	G	A	8: 22,601,178 (GRCm39)	T181M	probably damaging	Het
Nomo1	T	C	7: 45,683,320 (GRCm39)	I22T	probably benign	Het
Or7g27	T	G	9: 19,249,940 (GRCm39)	F61L	probably benign	Het
Plin4	A	G	17: 56,409,113 (GRCm39)	V1369A	probably benign	Het
Polr3c	A	T	3: 96,622,560 (GRCm39)	F365Y	probably damaging	Het
Sec22a	A	G	16: 35,139,202 (GRCm39)	F232S	probably damaging	Het
Sema4f	G	A	6: 82,894,887 (GRCm39)	T436M	probably benign	Het
Sf3a2	A	G	10: 80,637,175 (GRCm39)	T37A	probably damaging	Het
Slc1a6	A	G	10: 78,623,723 (GRCm39)	M41V	probably benign	Het
Sptbn4	C	T	7: 27,090,995 (GRCm39)	E1399K	probably damaging	Het
Sspo	T	C	6: 48,433,928 (GRCm39)	L911P	probably damaging	Het
Sult2a2	A	T	7: 13,468,708 (GRCm39)	Q58L	probably benign	Het
Syne2	A	T	12: 75,977,853 (GRCm39)	I1433F	probably damaging	Het
Synm	C	T	7: 67,384,405 (GRCm39)	V644I	possibly damaging	Het
Tbc1d5	A	G	17: 51,227,615 (GRCm39)	L210P	probably damaging	Het
Trak1	T	C	9: 121,277,909 (GRCm39)	Y229H	probably damaging	Het
Unc5b	G	T	10: 60,610,479 (GRCm39)	T446K	probably damaging	Het
Wdr95	C	A	5: 149,521,040 (GRCm39)	D604E	probably benign	Het
Zfp773	AGCTGCTGCTGCTGCTGCTGCTGCTGC	AGCTGCTGCTGCTGCTGCTGCTGC	7: 7,136,092 (GRCm39)		probably benign	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
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'- GCCGAAAACTTTATCAGGGTAG -3'
(R):5'- CAACTTGAAGCAATGATGTGTTCC -3'

Sequencing Primer
(F):5'- AGGGTAGGTCTTTACATTTCTTACC -3'
(R):5'- CATCTCTCAGTCTTCCTTATCAAAAG -3'

Posted On

2015-05-14