Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00816:Rmdn1'

13469

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rmdn1

Ensembl Gene

ENSMUSG00000028229

Gene Name

regulator of microtubule dynamics 1

Synonyms

5033415E11Rik, Fam82b, 6430576D04Rik, 2410005O16Rik, 5730501K14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

IGL00816

Quality Score

Status

Chromosome

Chromosomal Location

19575162-19606932 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19595119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 177 (V177A)

Ref Sequence

ENSEMBL: ENSMUSP00000103888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029888] [ENSMUST00000108253]

AlphaFold

Q9DCV4

Predicted Effect

probably benign
Transcript: ENSMUST00000029888
AA Change: V177A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029888
Gene: ENSMUSG00000028229
AA Change: V177A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
SCOP:d1a17__	140	281	2e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108253
AA Change: V177A

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

SMART Domains

Protein: ENSMUSP00000103888
Gene: ENSMUSG00000028229
AA Change: V177A

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,545,322 (GRCm39)	D5654E	probably benign	Het
Alg6	A	G	4: 99,630,598 (GRCm39)	S146G	probably null	Het
Anks1	T	C	17: 28,278,367 (GRCm39)		probably null	Het
Bcor	T	C	X: 11,904,059 (GRCm39)	I1662V	probably damaging	Het
Bzw1	T	C	1: 58,438,213 (GRCm39)	F98L	probably damaging	Het
Cdc14b	A	G	13: 64,353,217 (GRCm39)	V453A	probably benign	Het
Copg1	G	T	6: 87,870,880 (GRCm39)	A228S	possibly damaging	Het
D1Pas1	A	G	1: 186,701,609 (GRCm39)	I513V	possibly damaging	Het
Efemp1	G	A	11: 28,876,223 (GRCm39)	V463M	probably benign	Het
Ep400	T	A	5: 110,883,356 (GRCm39)		probably benign	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fgd3	A	G	13: 49,418,262 (GRCm39)		probably benign	Het
Furin	C	A	7: 80,042,315 (GRCm39)	G427W	probably damaging	Het
Glycam1	T	G	15: 103,472,659 (GRCm39)	D25A	probably damaging	Het
Gpr119	A	G	X: 47,763,047 (GRCm39)	L30P	probably damaging	Het
Gria1	T	A	11: 57,208,568 (GRCm39)	M752K	possibly damaging	Het
Mcph1	C	T	8: 18,682,413 (GRCm39)	P517S	possibly damaging	Het
Mug1	T	A	6: 121,859,597 (GRCm39)	Y1199N	probably damaging	Het
Myt1	A	G	2: 181,449,308 (GRCm39)	D663G	probably damaging	Het
Ppp1r1c	A	T	2: 79,540,241 (GRCm39)		probably null	Het
Rab1a	C	T	11: 20,174,727 (GRCm39)	T100M	possibly damaging	Het
Rfx6	A	G	10: 51,554,501 (GRCm39)	K114R	probably benign	Het
Setd5	T	G	6: 113,088,375 (GRCm39)	L168V	probably damaging	Het
Slc25a10	A	T	11: 120,385,976 (GRCm39)		probably benign	Het
Slc38a7	A	T	8: 96,570,748 (GRCm39)	I252N	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Taar8c	A	T	10: 23,977,173 (GRCm39)	I213N	probably damaging	Het
Tagln3	A	T	16: 45,544,556 (GRCm39)	C38*	probably null	Het
Tmcc2	C	A	1: 132,308,436 (GRCm39)	A153S	probably benign	Het
Tuft1	A	T	3: 94,523,138 (GRCm39)	I291N	probably damaging	Het
Vmn2r10	T	A	5: 109,150,451 (GRCm39)	M198L	possibly damaging	Het
Vps13d	T	A	4: 144,882,564 (GRCm39)	M1004L	probably benign	Het
Wfdc3	T	C	2: 164,584,945 (GRCm39)		probably benign	Het
Wfikkn2	G	A	11: 94,128,921 (GRCm39)	Q407*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zic2	T	A	14: 122,715,971 (GRCm39)	C364*	probably null	Het

Other mutations in Rmdn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00702:Rmdn1	APN	4	19,605,421 (GRCm39)	missense	probably damaging	1.00
IGL00755:Rmdn1	APN	4	19,580,401 (GRCm39)	missense	probably benign	0.01
IGL02547:Rmdn1	APN	4	19,605,501 (GRCm39)	missense	possibly damaging	0.79
R5027:Rmdn1	UTSW	4	19,588,533 (GRCm39)	nonsense	probably null
R7341:Rmdn1	UTSW	4	19,586,837 (GRCm39)	nonsense	probably null
R8231:Rmdn1	UTSW	4	19,586,853 (GRCm39)	missense	probably benign	0.00
R8311:Rmdn1	UTSW	4	19,575,329 (GRCm39)	critical splice donor site	probably null
R9225:Rmdn1	UTSW	4	19,601,385 (GRCm39)	missense	probably damaging	1.00
R9592:Rmdn1	UTSW	4	19,599,660 (GRCm39)	missense	possibly damaging	0.56

Posted On

2012-12-06