Mutagenetix > Incidental Mutation

Incidental Mutation 'R3736:Rmnd5a'

270118

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

040723-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.906) question?

Stock #

R3736 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71365618-71417621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71373846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Ref Sequence

ENSEMBL: ENSMUSP00000002292 (fasta)

Gene Model

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

AlphaFold

Q80YQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002292
AA Change: D316G

PolyPhen 2 Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: D316G

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

unknown
Transcript: ENSMUST00000149415
AA Change: D142G

SMART Domains

Protein: ENSMUSP00000115130
Gene: ENSMUSG00000002222
AA Change: D142G

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

0.6207

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	A	7: 29,273,996 (GRCm39)		noncoding transcript	Het
Acot12	T	A	13: 91,932,465 (GRCm39)	I487N	probably benign	Het
Acox3	A	G	5: 35,768,497 (GRCm39)	K686R	probably benign	Het
Adgrf2	T	C	17: 43,021,903 (GRCm39)	E307G	probably benign	Het
Ang2	G	A	14: 51,433,113 (GRCm39)	R90*	probably null	Het
Ankrd11	A	T	8: 123,618,524 (GRCm39)	V1776D	probably damaging	Het
Atp12a	G	A	14: 56,611,884 (GRCm39)	V353I	possibly damaging	Het
Bbs7	A	G	3: 36,661,819 (GRCm39)	Y127H	possibly damaging	Het
C8a	T	C	4: 104,674,812 (GRCm39)	E509G	probably benign	Het
Ccdc158	A	C	5: 92,780,283 (GRCm39)	L930R	possibly damaging	Het
Ccdc162	T	C	10: 41,465,564 (GRCm39)		probably null	Het
Cep170b	A	T	12: 112,707,438 (GRCm39)	I395F	probably damaging	Het
Cimip2c	A	T	5: 30,639,442 (GRCm39)	Y123F	probably benign	Het
Clcn3	T	A	8: 61,436,686 (GRCm39)		probably benign	Het
Ctps1	T	C	4: 120,400,943 (GRCm39)	T459A	probably benign	Het
Cyp2j8	T	A	4: 96,332,836 (GRCm39)	R503S	probably damaging	Het
Dync1h1	G	A	12: 110,598,109 (GRCm39)	V1767I	probably benign	Het
Evi5	A	T	5: 107,966,849 (GRCm39)	V224D	probably damaging	Het
F8	G	A	X: 74,254,981 (GRCm39)	P2138S	probably damaging	Het
Helq	T	G	5: 100,938,054 (GRCm39)	D464A	possibly damaging	Het
Irag1	A	G	7: 110,523,170 (GRCm39)	V297A	probably benign	Het
Irag2	G	A	6: 145,106,596 (GRCm39)		probably benign	Het
Kcnk10	A	G	12: 98,456,171 (GRCm39)	V203A	probably benign	Het
Lef1	C	T	3: 130,984,715 (GRCm39)	P160S	possibly damaging	Het
Lyn	G	T	4: 3,745,330 (GRCm39)	W78C	probably damaging	Het
Med12l	T	A	3: 58,998,916 (GRCm39)	H614Q	probably damaging	Het
Mogs	C	A	6: 83,093,757 (GRCm39)	T242K	possibly damaging	Het
Morc3	T	A	16: 93,671,700 (GRCm39)	V910E	probably damaging	Het
Ncapg	A	T	5: 45,853,469 (GRCm39)	Q906L	probably benign	Het
Nup210l	A	G	3: 90,027,320 (GRCm39)	Y234C	probably damaging	Het
Olr1	T	A	6: 129,476,838 (GRCm39)		probably benign	Het
Or5p76	A	G	7: 108,122,626 (GRCm39)	V177A	possibly damaging	Het
Osmr	A	T	15: 6,851,561 (GRCm39)	Y656N	probably damaging	Het
Pde4dip	A	T	3: 97,631,427 (GRCm39)	F1161I	probably damaging	Het
Poc5	A	G	13: 96,533,324 (GRCm39)	S151G	probably damaging	Het
Shroom3	T	C	5: 93,112,303 (GRCm39)	V1888A	possibly damaging	Het
Shtn1	A	T	19: 59,010,700 (GRCm39)	S256T	probably benign	Het
Sptlc2	G	A	12: 87,388,339 (GRCm39)	A381V	probably benign	Het
Suclg2	T	A	6: 95,474,677 (GRCm39)	I363F	probably damaging	Het
Tas2r134	C	A	2: 51,517,786 (GRCm39)	N88K	probably damaging	Het
Tbc1d32	A	G	10: 56,005,189 (GRCm39)	Y815H	probably damaging	Het
Tnrc6b	G	C	15: 80,773,364 (GRCm39)		probably benign	Het
Vti1a	T	A	19: 55,369,364 (GRCm39)		probably null	Het
Zfp273	T	A	13: 67,973,626 (GRCm39)	C251*	probably null	Het
Zfp683	C	A	4: 133,784,742 (GRCm39)	Q330K	probably benign	Het
Zfpm1	G	A	8: 123,050,475 (GRCm39)	C117Y	possibly damaging	Het
Zscan4d	T	C	7: 10,896,803 (GRCm39)	N189S	probably benign	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
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
R6442:Rmnd5a	UTSW	6	71,371,659 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGAAATTACAGGTTAAAGTCCCTC -3'
(R):5'- TAGAGGAATAGCTGTCCTGCAC -3'

Sequencing Primer
(F):5'- GTGCTGAGACTAGACTCAAAGCTTC -3'
(R):5'- AATAGCTGTCCTGCACCTGCTG -3'

Posted On

2015-03-18