Mutagenetix > Incidental Mutation

Incidental Mutation 'R3149:Rmnd5a'

264348

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

040601-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

R3149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71365618-71417621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71406085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 68 (I68L)

Ref Sequence

ENSEMBL: ENSMUSP00000002292 (fasta)

Gene Model

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

AlphaFold

Q80YQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000002292
AA Change: I68L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000002292
Gene: ENSMUSG00000002222
AA Change: I68L

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: ENSMUST00000205157

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	G	A	17: 57,183,348 (GRCm39)	A30T	probably benign	Het
Atox1	A	G	11: 55,341,379 (GRCm39)	L52P	possibly damaging	Het
Cel	T	C	2: 28,446,143 (GRCm39)	D576G	probably benign	Het
Csf2ra	C	A	19: 61,215,758 (GRCm39)	A16S	possibly damaging	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dus1l	T	C	11: 120,683,930 (GRCm39)	T173A	possibly damaging	Het
Dzip1	T	C	14: 119,148,780 (GRCm39)	T300A	probably benign	Het
Ggta1	A	T	2: 35,292,635 (GRCm39)	I224N	probably damaging	Het
Gm5150	A	G	3: 16,060,479 (GRCm39)	L3P	probably damaging	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7137	T	C	10: 77,623,839 (GRCm39)		probably benign	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hoxa13	G	T	6: 52,237,284 (GRCm39)		probably benign	Het
Ift46	A	G	9: 44,695,045 (GRCm39)	D65G	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Mapk11	T	C	15: 89,029,653 (GRCm39)		probably null	Het
Mettl25	T	C	10: 105,662,214 (GRCm39)	D252G	probably benign	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Or10ab4	C	T	7: 107,654,989 (GRCm39)	R267C	probably benign	Het
Pecam1	A	G	11: 106,575,107 (GRCm39)	V601A	possibly damaging	Het
Prkx	A	T	X: 76,814,881 (GRCm39)	F260I	probably damaging	Het
Rassf9	A	T	10: 102,380,687 (GRCm39)	D21V	possibly damaging	Het
Rock2	T	C	12: 17,015,092 (GRCm39)	S762P	probably damaging	Het
Septin4	T	C	11: 87,458,070 (GRCm39)	V148A	possibly damaging	Het
Srgap2	T	C	1: 131,220,327 (GRCm39)	T216A	probably benign	Het
Tasor2	G	A	13: 3,624,359 (GRCm39)	P1182S	probably damaging	Het
Vmn1r86	T	A	7: 12,836,358 (GRCm39)	K123*	probably null	Het
Vmn2r68	A	C	7: 84,886,875 (GRCm39)	V13G	probably benign	Het
Vps13d	G	C	4: 144,853,147 (GRCm39)	N2322K	possibly damaging	Het
Xpo5	A	G	17: 46,553,173 (GRCm39)		probably null	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly 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
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
R6442:Rmnd5a	UTSW	6	71,371,659 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACAAAGGCTCCTCTGTGGTTG -3'
(R):5'- CGTGCTTCAAGGAAGATACTGG -3'

Sequencing Primer
(F):5'- TGATGACCTGAGTTCAATCCCAGG -3'
(R):5'- GCTTCAAGGAAGATACTGGTTTTCC -3'

Posted On

2015-02-05