Mutagenetix > Incidental Mutation

Incidental Mutation 'R6442:Rmnd5a'

519056

Institutional Source

Beutler Lab

Gene Symbol

Rmnd5a

Ensembl Gene

ENSMUSG00000002222

Gene Name

required for meiotic nuclear division 5 homolog A

Synonyms

1110007A06Rik, Gid2

MMRRC Submission

044580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R6442 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71365618-71417621 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 71371659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 180 (C180*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002292]

AlphaFold

Q80YQ8

Predicted Effect

probably null
Transcript: ENSMUST00000002292
AA Change: C354*

SMART Domains

Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: C354*

Domain	Start	End	E-Value	Type
LisH	114	146	5.54e-5	SMART
CTLH	153	210	9.86e-11	SMART
CRA	208	302	7.07e-17	SMART
Pfam:zf-RING_UBOX	336	375	3.5e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140696

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144081

Predicted Effect

probably null
Transcript: ENSMUST00000149415
AA Change: C180*

SMART Domains

Protein: ENSMUSP00000115130
Gene: ENSMUSG00000002222
AA Change: C180*

Domain	Start	End	E-Value	Type
CRA	35	129	7.07e-17	SMART
Pfam:zf-RING_UBOX	163	202	4e-20	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp9a	T	C	2: 168,491,481 (GRCm39)	T695A	probably benign	Het
Btla	A	G	16: 45,044,821 (GRCm39)	N36D	probably benign	Het
Btla	T	C	16: 45,070,713 (GRCm39)	V224A	possibly damaging	Het
Cep126	T	C	9: 8,100,564 (GRCm39)	N657D	probably benign	Het
Cops3	T	A	11: 59,718,780 (GRCm39)	K171N	probably benign	Het
Crocc2	A	G	1: 93,112,775 (GRCm39)	R193G	probably benign	Het
Dis3l	T	C	9: 64,214,837 (GRCm39)	I911V	probably benign	Het
Dpp6	G	A	5: 27,923,507 (GRCm39)		probably null	Het
Efcab5	A	T	11: 76,996,260 (GRCm39)	Y1100*	probably null	Het
Fcgbpl1	C	T	7: 27,843,611 (GRCm39)	T833I	possibly damaging	Het
Galnt10	A	G	11: 57,656,448 (GRCm39)	T211A	probably benign	Het
Gdf9	A	G	11: 53,324,515 (GRCm39)	T95A	probably benign	Het
Gm826	T	A	2: 160,169,328 (GRCm39)		probably benign	Het
Hsd17b6	C	T	10: 127,829,636 (GRCm39)		probably null	Het
Hyal4	A	G	6: 24,765,849 (GRCm39)	N401S	probably benign	Het
Itga8	C	T	2: 12,234,954 (GRCm39)	V435I	probably benign	Het
Nr1h5	G	A	3: 102,848,427 (GRCm39)	P418L	probably damaging	Het
Or3a4	G	A	11: 73,945,505 (GRCm39)	R27W	probably benign	Het
Or4f15	G	A	2: 111,813,874 (GRCm39)	P182S	probably damaging	Het
Or4n4	T	G	14: 50,518,826 (GRCm39)	K295Q	probably damaging	Het
Or6c214	C	A	10: 129,591,277 (GRCm39)	G14V	probably damaging	Het
Or9i14	T	C	19: 13,792,992 (GRCm39)		probably benign	Het
Prdm11	G	A	2: 92,805,990 (GRCm39)	A320V	probably benign	Het
Ptpn5	T	C	7: 46,732,831 (GRCm39)		probably null	Het
Reln	T	A	5: 22,137,774 (GRCm39)	I2473L	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sapcd2	T	A	2: 25,266,134 (GRCm39)		probably benign	Het
Sec24b	A	G	3: 129,790,350 (GRCm39)	L462S	probably damaging	Het
Slc26a9	A	T	1: 131,686,555 (GRCm39)	Y425F	possibly damaging	Het
Sult1b1	T	C	5: 87,682,912 (GRCm39)	D11G	probably benign	Het
Tgs1	T	A	4: 3,604,760 (GRCm39)	Y727*	probably null	Het
Tmem80	T	C	7: 140,915,839 (GRCm39)	V83A	probably benign	Het
Ttn	T	C	2: 76,551,978 (GRCm39)	T31220A	probably benign	Het
Usp46	A	T	5: 74,177,377 (GRCm39)	D167E	probably benign	Het
Vmn2r67	T	A	7: 84,805,046 (GRCm39)	D22V	possibly damaging	Het
Zswim5	C	A	4: 116,808,202 (GRCm39)	P262Q	probably damaging	Het

Other mutations in Rmnd5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02892:Rmnd5a	APN	6	71,391,798 (GRCm39)	missense	probably benign	0.00
IGL03264:Rmnd5a	APN	6	71,370,119 (GRCm39)	missense	probably damaging	0.99
R0046:Rmnd5a	UTSW	6	71,376,215 (GRCm39)	missense	probably damaging	0.98
R0046:Rmnd5a	UTSW	6	71,376,215 (GRCm39)	missense	probably damaging	0.98
R1295:Rmnd5a	UTSW	6	71,375,439 (GRCm39)	missense	probably benign	0.45
R1296:Rmnd5a	UTSW	6	71,375,439 (GRCm39)	missense	probably benign	0.45
R1840:Rmnd5a	UTSW	6	71,375,439 (GRCm39)	missense	probably benign	0.45
R3149:Rmnd5a	UTSW	6	71,406,085 (GRCm39)	missense	probably benign	0.02
R3735:Rmnd5a	UTSW	6	71,373,846 (GRCm39)	missense	possibly damaging	0.75
R3736:Rmnd5a	UTSW	6	71,373,846 (GRCm39)	missense	possibly damaging	0.75
R4459:Rmnd5a	UTSW	6	71,373,865 (GRCm39)	missense	probably damaging	0.98
R4532:Rmnd5a	UTSW	6	71,376,109 (GRCm39)	critical splice donor site	probably null
R4782:Rmnd5a	UTSW	6	71,390,333 (GRCm39)	missense	probably damaging	0.98
R5587:Rmnd5a	UTSW	6	71,371,603 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGGCTGAGCACAGTGTTAC -3'
(R):5'- GCAGTTTGAAAAGCAGTGTTG -3'

Sequencing Primer
(F):5'- TAATTCCAGTACTCAGCCATGG -3'
(R):5'- GAAAAGCAGTGTTGTAGTTTTTCAG -3'

Posted On

2018-05-24