Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03293:Morc2b'

415965

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Morc2b

Ensembl Gene

ENSMUSG00000048602

Gene Name

microrchidia 2B

Synonyms

4932411A10Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

IGL03293

Quality Score

Status

Chromosome

Chromosomal Location

33354562-33369473 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33357337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 145 (V145D)

Ref Sequence

ENSEMBL: ENSMUSP00000123354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053896] [ENSMUST00000131954]

AlphaFold

Q8C5W4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053896
AA Change: V145D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056879
Gene: ENSMUSG00000048602
AA Change: V145D

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	495	541	1.9e-16	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131954
AA Change: V145D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123354
Gene: ENSMUSG00000048602
AA Change: V145D

Domain	Start	End	E-Value	Type
HATPase_c	24	134	5.78e0	SMART
coiled coil region	285	321	N/A	INTRINSIC
Pfam:zf-CW	494	543	7.7e-18	PFAM
coiled coil region	555	584	N/A	INTRINSIC
low complexity region	680	695	N/A	INTRINSIC
coiled coil region	961	1001	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display male and female infertility with failure of chromosomal synapsis, double strand break repair, and recombination in meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	A	1: 11,615,375 (GRCm39)		probably null	Het
Akr1c14	C	T	13: 4,129,130 (GRCm39)	R45*	probably null	Het
Ccdc62	T	A	5: 124,089,288 (GRCm39)	L309I	possibly damaging	Het
Ccdc66	T	A	14: 27,212,628 (GRCm39)	N565I	probably damaging	Het
Cerkl	G	T	2: 79,172,719 (GRCm39)	A318E	probably damaging	Het
Clec4n	A	T	6: 123,209,105 (GRCm39)	T57S	probably benign	Het
Cluh	A	G	11: 74,556,578 (GRCm39)	E921G	probably benign	Het
Cnbd1	C	T	4: 18,860,565 (GRCm39)	E394K	possibly damaging	Het
Dmgdh	G	T	13: 93,843,209 (GRCm39)	M348I	probably benign	Het
Dnajc13	G	A	9: 104,051,625 (GRCm39)	S1744L	possibly damaging	Het
Dspp	A	T	5: 104,325,427 (GRCm39)	S597C	unknown	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Eepd1	A	G	9: 25,514,708 (GRCm39)	H505R	possibly damaging	Het
Entr1	A	T	2: 26,277,688 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,303 (GRCm39)	T174A	possibly damaging	Het
Gnb1	T	C	4: 155,625,004 (GRCm39)		probably benign	Het
Gpam	A	G	19: 55,059,448 (GRCm39)	S800P	probably benign	Het
Gsr	T	C	8: 34,185,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,804,878 (GRCm39)	K2302R	probably benign	Het
Hipk1	C	A	3: 103,684,575 (GRCm39)	A347S	possibly damaging	Het
Iqgap2	T	C	13: 95,867,942 (GRCm39)	N222S	probably damaging	Het
Marco	T	A	1: 120,422,524 (GRCm39)	M46L	probably benign	Het
Mprip	C	A	11: 59,586,989 (GRCm39)	P54Q	probably damaging	Het
Ndufv2	A	T	17: 66,390,444 (GRCm39)	C175*	probably null	Het
Or13c25	A	G	4: 52,910,835 (GRCm39)	*320Q	probably null	Het
Or4p20	T	C	2: 88,253,571 (GRCm39)	D266G	probably damaging	Het
Orc3	A	C	4: 34,595,210 (GRCm39)	I195S	probably damaging	Het
Otos	C	A	1: 92,572,135 (GRCm39)	E64*	probably null	Het
Plxna2	T	C	1: 194,487,253 (GRCm39)	S1603P	probably damaging	Het
Rlf	A	T	4: 121,005,527 (GRCm39)	I1151N	probably benign	Het
Scaper	A	G	9: 55,782,107 (GRCm39)	V283A	probably benign	Het
Slc25a43	A	G	X: 36,039,252 (GRCm39)	T270A	probably benign	Het
Slc35a5	A	G	16: 44,964,144 (GRCm39)	V78A	probably damaging	Het
Smurf1	A	T	5: 144,818,609 (GRCm39)	D636E	probably benign	Het
Tchhl1	A	T	3: 93,377,582 (GRCm39)	E95D	probably damaging	Het
Tcp10a	A	G	17: 7,593,891 (GRCm39)	E72G	possibly damaging	Het
Tmem232	A	G	17: 65,757,369 (GRCm39)	S275P	probably damaging	Het
Ugt1a5	T	C	1: 88,094,540 (GRCm39)	F256S	probably damaging	Het
Ulbp3	A	G	10: 3,075,699 (GRCm39)		noncoding transcript	Het
Vmn2r5	A	G	3: 64,398,747 (GRCm39)	V744A	probably benign	Het
Vmn2r53	A	T	7: 12,332,349 (GRCm39)	S433R	probably benign	Het
Vmn2r9	A	T	5: 108,995,997 (GRCm39)	I217N	probably damaging	Het
Wdr83	G	T	8: 85,807,216 (GRCm39)	A10E	probably benign	Het

Other mutations in Morc2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Morc2b	APN	17	33,356,293 (GRCm39)	missense	possibly damaging	0.47
IGL01369:Morc2b	APN	17	33,357,139 (GRCm39)	missense	probably benign	0.12
IGL01533:Morc2b	APN	17	33,354,695 (GRCm39)	utr 3 prime	probably benign
IGL02003:Morc2b	APN	17	33,357,298 (GRCm39)	missense	probably benign	0.07
IGL02028:Morc2b	APN	17	33,356,387 (GRCm39)	missense	possibly damaging	0.78
IGL02152:Morc2b	APN	17	33,356,917 (GRCm39)	missense	probably damaging	1.00
IGL02341:Morc2b	APN	17	33,356,281 (GRCm39)	missense	probably damaging	1.00
IGL02976:Morc2b	APN	17	33,356,497 (GRCm39)	missense	possibly damaging	0.90
twinkle	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
PIT4283001:Morc2b	UTSW	17	33,355,042 (GRCm39)	missense	probably benign	0.00
R0056:Morc2b	UTSW	17	33,357,733 (GRCm39)	missense	possibly damaging	0.78
R0116:Morc2b	UTSW	17	33,356,015 (GRCm39)	missense	probably damaging	1.00
R0179:Morc2b	UTSW	17	33,355,956 (GRCm39)	nonsense	probably null
R0533:Morc2b	UTSW	17	33,354,906 (GRCm39)	nonsense	probably null
R0556:Morc2b	UTSW	17	33,356,812 (GRCm39)	missense	probably benign	0.05
R0629:Morc2b	UTSW	17	33,354,781 (GRCm39)	missense	probably benign	0.00
R0635:Morc2b	UTSW	17	33,356,661 (GRCm39)	missense	possibly damaging	0.90
R0840:Morc2b	UTSW	17	33,355,086 (GRCm39)	missense	probably benign	0.01
R1205:Morc2b	UTSW	17	33,354,908 (GRCm39)	missense	probably damaging	1.00
R1566:Morc2b	UTSW	17	33,355,948 (GRCm39)	missense	probably benign	0.02
R1676:Morc2b	UTSW	17	33,354,955 (GRCm39)	missense	possibly damaging	0.82
R1892:Morc2b	UTSW	17	33,354,748 (GRCm39)	missense	probably damaging	1.00
R1954:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1955:Morc2b	UTSW	17	33,356,464 (GRCm39)	missense	probably damaging	1.00
R1969:Morc2b	UTSW	17	33,356,065 (GRCm39)	missense	probably benign	0.00
R2069:Morc2b	UTSW	17	33,355,734 (GRCm39)	missense	probably benign	0.13
R3609:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3610:Morc2b	UTSW	17	33,355,252 (GRCm39)	missense	probably damaging	1.00
R3831:Morc2b	UTSW	17	33,356,233 (GRCm39)	missense	probably benign	0.01
R4156:Morc2b	UTSW	17	33,357,401 (GRCm39)	missense	probably benign	0.43
R4243:Morc2b	UTSW	17	33,355,375 (GRCm39)	missense	probably benign	0.03
R4877:Morc2b	UTSW	17	33,357,712 (GRCm39)	missense	probably benign	0.26
R4911:Morc2b	UTSW	17	33,356,351 (GRCm39)	missense	probably damaging	1.00
R5230:Morc2b	UTSW	17	33,355,226 (GRCm39)	missense	probably benign	0.00
R5264:Morc2b	UTSW	17	33,357,353 (GRCm39)	missense	probably benign	0.03
R5326:Morc2b	UTSW	17	33,355,907 (GRCm39)	missense	probably benign	0.01
R5455:Morc2b	UTSW	17	33,357,584 (GRCm39)	missense	probably benign	0.29
R5933:Morc2b	UTSW	17	33,357,583 (GRCm39)	missense	possibly damaging	0.84
R5973:Morc2b	UTSW	17	33,356,446 (GRCm39)	missense	probably damaging	0.97
R6026:Morc2b	UTSW	17	33,356,957 (GRCm39)	missense	possibly damaging	0.55
R6113:Morc2b	UTSW	17	33,357,042 (GRCm39)	nonsense	probably null
R6393:Morc2b	UTSW	17	33,356,750 (GRCm39)	missense	probably damaging	0.97
R7066:Morc2b	UTSW	17	33,355,610 (GRCm39)	missense	probably benign	0.00
R7117:Morc2b	UTSW	17	33,356,926 (GRCm39)	missense	probably benign	0.00
R7120:Morc2b	UTSW	17	33,354,787 (GRCm39)	missense	probably damaging	1.00
R7130:Morc2b	UTSW	17	33,355,262 (GRCm39)	missense	possibly damaging	0.68
R7498:Morc2b	UTSW	17	33,356,833 (GRCm39)	missense	possibly damaging	0.55
R7516:Morc2b	UTSW	17	33,356,435 (GRCm39)	missense	probably benign	0.03
R7664:Morc2b	UTSW	17	33,355,376 (GRCm39)	missense	probably benign	0.12
R7754:Morc2b	UTSW	17	33,356,218 (GRCm39)	missense	probably benign	0.33
R7756:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7758:Morc2b	UTSW	17	33,355,981 (GRCm39)	missense	probably damaging	1.00
R7766:Morc2b	UTSW	17	33,357,397 (GRCm39)	missense	probably benign	0.19
R7957:Morc2b	UTSW	17	33,354,747 (GRCm39)	missense	probably benign	0.39
R7965:Morc2b	UTSW	17	33,354,746 (GRCm39)	missense	possibly damaging	0.91
R8164:Morc2b	UTSW	17	33,357,014 (GRCm39)	missense	probably damaging	0.99
R8283:Morc2b	UTSW	17	33,355,675 (GRCm39)	missense	probably benign	0.00
R8338:Morc2b	UTSW	17	33,355,387 (GRCm39)	missense	probably benign
R8349:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8352:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8362:Morc2b	UTSW	17	33,357,295 (GRCm39)	missense	possibly damaging	0.91
R8364:Morc2b	UTSW	17	33,357,214 (GRCm39)	missense	probably benign	0.01
R8449:Morc2b	UTSW	17	33,355,775 (GRCm39)	missense	probably benign	0.13
R8452:Morc2b	UTSW	17	33,356,476 (GRCm39)	missense	probably damaging	1.00
R8476:Morc2b	UTSW	17	33,354,833 (GRCm39)	missense	possibly damaging	0.87
R8844:Morc2b	UTSW	17	33,354,742 (GRCm39)	missense	probably damaging	1.00
R9277:Morc2b	UTSW	17	33,354,997 (GRCm39)	missense	probably benign	0.10
R9571:Morc2b	UTSW	17	33,355,178 (GRCm39)	missense	probably benign	0.00
Z1088:Morc2b	UTSW	17	33,355,060 (GRCm39)	missense	possibly damaging	0.49
Z1177:Morc2b	UTSW	17	33,356,376 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02