Mutagenetix > Incidental Mutation

Incidental Mutation 'R5481:Morc3'

434359

Institutional Source

Beutler Lab

Gene Symbol

Morc3

Ensembl Gene

ENSMUSG00000039456

Gene Name

microrchidia 3

Synonyms

Zcwcc3, 1110051N18Rik, 1110051N18Rik, D16Jhu32e

MMRRC Submission

043042-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5481 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93832121-93876073 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 93862655 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 449 (P449Q)

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: P449Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040152
Gene: ENSMUSG00000039456
AA Change: P449Q

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: P378Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144058
Gene: ENSMUSG00000039456
AA Change: P378Q

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: P449Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144369
Gene: ENSMUSG00000039456
AA Change: P449Q

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: 99.1%
3x: 97.6%
10x: 95.1%
20x: 90.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,505,562	S187P	probably damaging	Het
Aass	C	A	6: 23,113,476	V282L	probably benign	Het
Adh6a	G	T	3: 138,325,958	V204F	probably damaging	Het
Aspm	A	G	1: 139,457,061	K148E	possibly damaging	Het
Atp12a	A	T	14: 56,373,389	D330V	possibly damaging	Het
Barhl1	A	G	2: 28,915,340	Y114H	probably damaging	Het
BC106179	T	A	16: 23,224,168		probably benign	Het
Cabin1	A	G	10: 75,735,066	L792P	probably benign	Het
Calcoco2	A	G	11: 96,107,543	V18A	probably damaging	Het
Chpf2	A	T	5: 24,589,342	H170L	probably damaging	Het
Chrna1	T	A	2: 73,566,926	I340F	possibly damaging	Het
Ckap5	A	T	2: 91,572,447	I690F	possibly damaging	Het
Col10a1	A	G	10: 34,395,664	H544R	probably benign	Het
Cyp2b19	A	C	7: 26,766,821	T350P	probably damaging	Het
Dgkq	A	G	5: 108,648,810		probably null	Het
Dnah1	A	G	14: 31,308,871	V443A	possibly damaging	Het
Erbb3	T	C	10: 128,572,480	D855G	probably damaging	Het
Fam3c	T	C	6: 22,321,358	D138G	probably benign	Het
Fen1	A	G	19: 10,200,658	C141R	probably damaging	Het
Flnc	G	A	6: 29,441,217	G390D	probably damaging	Het
Fnip1	C	A	11: 54,502,644	D635E	probably benign	Het
Fry	A	T	5: 150,260,319	L17F	probably benign	Het
Fsip2	T	C	2: 82,979,886	I2183T	probably benign	Het
Gfpt1	T	A	6: 87,050,969	I19N	probably damaging	Het
Gm9774	A	G	3: 92,429,351	S15P	possibly damaging	Het
Hus1b	T	C	13: 30,946,959	D239G	probably benign	Het
Kif1a	T	C	1: 93,060,244	K546R	probably benign	Het
Kmt2d	A	G	15: 98,862,005	V1124A	unknown	Het
Krtap16-1	A	G	11: 99,985,327	I417T	probably damaging	Het
Manba	A	T	3: 135,524,556	N297Y	possibly damaging	Het
Mblac1	A	G	5: 138,194,816	D140G	probably damaging	Het
Mlh1	T	C	9: 111,229,837		probably null	Het
Morc1	T	A	16: 48,561,485		probably null	Het
Mtr	T	C	13: 12,188,155		probably null	Het
Mylk	T	A	16: 34,921,604	C829S	probably benign	Het
Myo1d	A	G	11: 80,663,095	I520T	possibly damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Nos1	A	T	5: 117,867,754	I180F	probably benign	Het
Ntsr1	C	T	2: 180,541,520	T341M	possibly damaging	Het
Olfr916	A	T	9: 38,657,620	F257L	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Peli2	C	A	14: 48,252,633	N136K	probably damaging	Het
Pigt	C	A	2: 164,506,422	P429H	probably damaging	Het
Pik3r2	T	C	8: 70,769,764	I515V	probably benign	Het
Pkhd1l1	A	G	15: 44,558,646	Y3104C	probably damaging	Het
Ppp1r16a	A	C	15: 76,691,021	E43A	probably damaging	Het
Ptpn18	T	C	1: 34,471,663	L260P	possibly damaging	Het
Scaf11	A	T	15: 96,420,617	S355R	probably damaging	Het
Sema4a	A	T	3: 88,453,040	Y77*	probably null	Het
Serpinb9b	T	C	13: 33,038,093	V230A	possibly damaging	Het
Sfswap	T	A	5: 129,514,818	S300T	probably damaging	Het
Slc22a30	T	C	19: 8,336,837	N495S	probably benign	Het
Srcap	G	A	7: 127,532,197	G836D	probably damaging	Het
Stard4	A	C	18: 33,205,245	C137W	probably benign	Het
Stat6	A	G	10: 127,647,826		probably null	Het
Steap3	T	C	1: 120,241,724	D243G	probably benign	Het
Taf1c	A	G	8: 119,599,240	S628P	probably damaging	Het
Unkl	C	T	17: 25,201,172	Q13*	probably null	Het
Usp38	A	G	8: 80,993,323	S426P	possibly damaging	Het
Vmn2r8	T	C	5: 108,801,770	T404A	probably benign	Het
Washc1	T	C	17: 66,118,865	V425A	probably benign	Het
Zfyve9	A	G	4: 108,644,349	I590T	probably damaging	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
R1630:Morc3	UTSW	16	93866533	missense	probably benign	0.03
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
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
R8697:Morc3	UTSW	16	93871020	missense	probably benign	0.00
R8739:Morc3	UTSW	16	93860510	missense	probably damaging	1.00
R9072:Morc3	UTSW	16	93870594	missense	probably benign	0.00
R9235:Morc3	UTSW	16	93862433	missense	probably damaging	1.00
R9305:Morc3	UTSW	16	93870414	missense	probably benign	0.00
R9405:Morc3	UTSW	16	93845148	missense	probably damaging	1.00
R9431:Morc3	UTSW	16	93870883	nonsense	probably null
R9440:Morc3	UTSW	16	93853087	critical splice acceptor site	probably null
R9524:Morc3	UTSW	16	93870513	missense	probably benign	0.09
R9571:Morc3	UTSW	16	93844219	missense	possibly damaging	0.89
X0023:Morc3	UTSW	16	93847399	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGGGATAGATCAGCTTCCAG -3'
(R):5'- AGTGTCTATGCACAGGTCAC -3'

Sequencing Primer
(F):5'- GCTTCCAGAAAAATGGTATTGCTCC -3'
(R):5'- TGCACAGGTCACTTAATAGGACTCAG -3'

Posted On

2016-10-06