Mutagenetix > Incidental Mutation

Incidental Mutation 'R0534:Rmdn3'

49354

Institutional Source

Beutler Lab

Gene Symbol

Rmdn3

Ensembl Gene

ENSMUSG00000070730

Gene Name

regulator of microtubule dynamics 3

Synonyms

Fam82a2, 1200015F23Rik

MMRRC Submission

038726-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0534 (G1)

Quality Score

176

Status

Validated

Chromosome

Chromosomal Location

118967482-118987515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118976851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 294 (E294G)

Ref Sequence

ENSEMBL: ENSMUSP00000092283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094695]

AlphaFold

Q3UJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000094695
AA Change: E294G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092283
Gene: ENSMUSG00000070730
AA Change: E294G

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
coiled coil region	91	122	N/A	INTRINSIC
low complexity region	135	148	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
SCOP:d1hxia_	354	445	1e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130249

Predicted Effect

probably benign
Transcript: ENSMUST00000151406

SMART Domains

Protein: ENSMUSP00000117939
Gene: ENSMUSG00000027323

Domain	Start	End	E-Value	Type
Pfam:Rad51	1	196	5.4e-103	PFAM
Pfam:AAA_25	2	152	1.9e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156332

Meta Mutation Damage Score

0.0909

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

96% (47/49)

MGI Phenotype

PHENOTYPE: Phenotypic analysis of mice homozygous for a gene trap allele indicates this mutation has no notable phenotype in any parameter tested. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cand2	A	G	6: 115,764,197 (GRCm39)	M324V	probably damaging	Het
Cap1	C	T	4: 122,756,512 (GRCm39)	V340M	probably benign	Het
Ccdc110	T	C	8: 46,388,175 (GRCm39)	V44A	possibly damaging	Het
Cps1	A	G	1: 67,183,059 (GRCm39)	D139G	probably benign	Het
Cwc27	T	A	13: 104,768,124 (GRCm39)	E457V	unknown	Het
Cxxc1	C	T	18: 74,351,962 (GRCm39)	P280S	probably benign	Het
Dennd2b	A	T	7: 109,140,635 (GRCm39)	V197D	probably damaging	Het
Dop1b	T	A	16: 93,559,393 (GRCm39)	L595Q	probably benign	Het
Dscam	G	T	16: 96,453,372 (GRCm39)	S1292R	possibly damaging	Het
E2f4	C	A	8: 106,030,851 (GRCm39)	F353L	probably damaging	Het
Ep300	A	G	15: 81,485,097 (GRCm39)		probably benign	Het
Fads1	C	T	19: 10,160,429 (GRCm39)	P5L	probably benign	Het
Fign	T	A	2: 63,811,135 (GRCm39)	H45L	probably damaging	Het
Flcn	T	A	11: 59,685,025 (GRCm39)		probably benign	Het
Gm5141	A	T	13: 62,922,408 (GRCm39)	F254I	probably damaging	Het
Gpbp1l1	T	A	4: 116,448,465 (GRCm39)	N402K	probably damaging	Het
Gpr37	A	T	6: 25,669,823 (GRCm39)	C340*	probably null	Het
Gtf3c2	A	T	5: 31,315,476 (GRCm39)		probably benign	Het
Hcfc2	T	A	10: 82,574,242 (GRCm39)	F139I	probably damaging	Het
Hectd4	T	C	5: 121,486,539 (GRCm39)	L3178P	possibly damaging	Het
Hrc	AGAGGAGGAGGAAGAGGAGGAGGA	AGAGGAGGAGGAGGAAGAGGAGGAGGA	7: 44,986,659 (GRCm39)		probably benign	Het
Igf2bp1	A	G	11: 95,857,622 (GRCm39)		probably benign	Het
Igsf9b	T	G	9: 27,244,358 (GRCm39)		probably null	Het
Il23r	G	A	6: 67,403,572 (GRCm39)	A443V	probably benign	Het
Kcnv1	A	G	15: 44,972,645 (GRCm39)	F413L	probably damaging	Het
Lipe	C	A	7: 25,087,611 (GRCm39)	A150S	possibly damaging	Het
Lrrcc1	T	C	3: 14,622,333 (GRCm39)	S557P	probably damaging	Het
Mrpl54	C	A	10: 81,102,687 (GRCm39)	W13L	probably damaging	Het
Mtcl3	T	A	10: 29,056,952 (GRCm39)		probably benign	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Npy1r	C	A	8: 67,157,670 (GRCm39)	Q327K	probably damaging	Het
Nt5el	C	A	13: 105,218,762 (GRCm39)	S32*	probably null	Het
Or51b17	C	T	7: 103,542,438 (GRCm39)	R168H	probably benign	Het
Osbpl10	C	T	9: 114,996,246 (GRCm39)	L139F	probably damaging	Het
P2rx6	A	C	16: 17,385,768 (GRCm39)	T199P	probably damaging	Het
Phyhip	A	T	14: 70,699,199 (GRCm39)	M1L	possibly damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Psmc1	T	A	12: 100,086,389 (GRCm39)	I342N	possibly damaging	Het
Reln	A	T	5: 22,152,406 (GRCm39)	D2353E	probably damaging	Het
Scnn1g	A	G	7: 121,366,647 (GRCm39)	M615V	probably benign	Het
Shcbp1l	T	A	1: 153,304,314 (GRCm39)	D124E	possibly damaging	Het
Sipa1l1	T	C	12: 82,472,054 (GRCm39)	S1345P	possibly damaging	Het
Taf7l2	T	C	10: 115,948,707 (GRCm39)	E273G	possibly damaging	Het
Timp4	A	G	6: 115,226,802 (GRCm39)	Y114H	probably damaging	Het
Tlr9	T	A	9: 106,102,086 (GRCm39)	L459Q	probably benign	Het
Tmem104	C	A	11: 115,091,654 (GRCm39)	T59K	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Zfp622	A	T	15: 25,984,654 (GRCm39)	I7F	possibly damaging	Het

Other mutations in Rmdn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Rmdn3	APN	2	118,984,428 (GRCm39)	missense	probably damaging	1.00
IGL01684:Rmdn3	APN	2	118,978,055 (GRCm39)	missense	probably damaging	1.00
IGL02892:Rmdn3	APN	2	118,984,561 (GRCm39)	missense	probably benign	0.00
R1126:Rmdn3	UTSW	2	118,984,476 (GRCm39)	missense	probably benign	0.01
R2332:Rmdn3	UTSW	2	118,984,008 (GRCm39)	unclassified	probably benign
R3850:Rmdn3	UTSW	2	118,986,903 (GRCm39)	missense	possibly damaging	0.65
R5034:Rmdn3	UTSW	2	118,978,058 (GRCm39)	missense	probably damaging	1.00
R5221:Rmdn3	UTSW	2	118,986,935 (GRCm39)	missense	probably damaging	1.00
R5942:Rmdn3	UTSW	2	118,978,058 (GRCm39)	missense	probably damaging	1.00
R6049:Rmdn3	UTSW	2	118,983,906 (GRCm39)	missense	probably damaging	1.00
R6188:Rmdn3	UTSW	2	118,969,831 (GRCm39)	critical splice donor site	probably null
R7011:Rmdn3	UTSW	2	118,968,904 (GRCm39)	missense	probably damaging	1.00
R7181:Rmdn3	UTSW	2	118,969,849 (GRCm39)	missense	probably damaging	1.00
R8277:Rmdn3	UTSW	2	118,976,905 (GRCm39)	missense	probably damaging	1.00
R8721:Rmdn3	UTSW	2	118,969,846 (GRCm39)	missense	possibly damaging	0.87
R9144:Rmdn3	UTSW	2	118,969,847 (GRCm39)	missense	probably benign	0.21
R9172:Rmdn3	UTSW	2	118,968,863 (GRCm39)	missense	probably benign	0.00
R9317:Rmdn3	UTSW	2	118,986,991 (GRCm39)	missense	unknown
R9727:Rmdn3	UTSW	2	118,968,827 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAGCACCGTGCTACTCACTG -3'
(R):5'- AGGTCATTCAACAATTCCCTCAGGC -3'

Sequencing Primer
(F):5'- CAGACCTGCTATCTCAGAGGAG -3'
(R):5'- GAAGCCGACAAGACTTTCTG -3'

Posted On

2013-06-12