Mutagenetix > Incidental Mutation

Incidental Mutation 'R1134:Morc3'

94866

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik

MMRRC Submission

039207-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1134 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

93629009-93672961 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93667557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 645 (V645A)

Ref Sequence

ENSEMBL: ENSMUSP00000144369 (fasta)

Gene Model

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

AlphaFold

F7BJB9

Predicted Effect

probably benign
Transcript: ENSMUST00000044068
AA Change: V645A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: V645A

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: V572A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: V572A

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: V645A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: V645A

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl6	C	A	16: 23,787,115 (GRCm39)	R595L	probably benign	Het
Cd40	T	A	2: 164,912,738 (GRCm39)	C230S	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Dusp6	T	C	10: 99,100,816 (GRCm39)	F271L	probably damaging	Het
Endou	A	G	15: 97,611,747 (GRCm39)	V339A	probably damaging	Het
Erich2	T	A	2: 70,366,535 (GRCm39)	L370*	probably null	Het
Fabp12	T	C	3: 10,312,731 (GRCm39)	D97G	probably benign	Het
Gk5	A	G	9: 96,015,460 (GRCm39)	N92S	probably benign	Het
Klhl28	A	G	12: 64,998,391 (GRCm39)	S368P	probably benign	Het
Lhfpl2	C	T	13: 94,310,760 (GRCm39)	S10L	probably damaging	Het
Ms4a4d	C	T	19: 11,535,298 (GRCm39)	L199F	possibly damaging	Het
Or13p3	A	G	4: 118,567,476 (GRCm39)	S291G	probably damaging	Het
Or8k21	T	C	2: 86,145,525 (GRCm39)	Y35C	probably damaging	Het
Otog	A	G	7: 45,947,938 (GRCm39)	E2313G	probably damaging	Het
Parp14	A	G	16: 35,655,272 (GRCm39)	V1733A	probably damaging	Het
Pgap4	T	C	4: 49,586,832 (GRCm39)	Q112R	probably benign	Het
Plcl2	G	A	17: 50,915,138 (GRCm39)	V716I	probably benign	Het
Plekhg2	G	T	7: 28,061,426 (GRCm39)	S816R	probably damaging	Het
Rev1	G	A	1: 38,096,768 (GRCm39)	S810L	probably benign	Het
Tbx15	G	T	3: 99,223,639 (GRCm39)	V276L	probably damaging	Het
Tdpoz4	A	T	3: 93,704,525 (GRCm39)	D274V	probably benign	Het
Tmem225	T	C	9: 40,061,143 (GRCm39)	L150P	possibly damaging	Het
Trpa1	A	T	1: 14,951,972 (GRCm39)	I909N	possibly damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps33a	A	G	5: 123,708,975 (GRCm39)	I80T	probably damaging	Het
Zcchc8	C	G	5: 123,855,090 (GRCm39)	G40R	probably 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
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
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'- TGAAGCGGAAACTTGGTGTTCACTC -3'
(R):5'- ATGGCTAGTGGCATCTACCGACTC -3'

Sequencing Primer
(F):5'- GACTCGGAGATTAAGTAATCCTCCAG -3'
(R):5'- TCTACCGACTCAGCCGAG -3'

Posted On

2014-01-05