Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Rbm18'

365378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm18

Ensembl Gene

ENSMUSG00000026889

Gene Name

RNA binding motif protein 18

Synonyms

2010004P11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.860) question?

Stock #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

36006091-36026716 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36012886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 102 (R102Q)

Ref Sequence

ENSEMBL: ENSMUSP00000028251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028251] [ENSMUST00000122456] [ENSMUST00000134668] [ENSMUST00000200733]

AlphaFold

Q9CR83

Predicted Effect

probably damaging
Transcript: ENSMUST00000028251
AA Change: R102Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000028251
Gene: ENSMUSG00000026889
AA Change: R102Q

Domain	Start	End	E-Value	Type
RRM	26	102	1.5e-18	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000122456
AA Change: D60N

SMART Domains

Protein: ENSMUSP00000113204
Gene: ENSMUSG00000026889
AA Change: D60N

Domain	Start	End	E-Value	Type
SCOP:d1h6kx_	23	40	5e-3	SMART
low complexity region	88	98	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134668

SMART Domains

Protein: ENSMUSP00000117831
Gene: ENSMUSG00000026889

Domain	Start	End	E-Value	Type
Pfam:RRM_1	27	67	1e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142809

Predicted Effect

probably benign
Transcript: ENSMUST00000200733

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
9530068E07Rik	T	C	11: 52,294,362 (GRCm39)	V209A	possibly damaging	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Atad5	T	A	11: 79,999,405 (GRCm39)	V895D	possibly damaging	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccer1	T	C	10: 97,529,702 (GRCm39)	S122P	unknown	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,473,381 (GRCm39)	I818N	possibly damaging	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Serbp1	G	A	6: 67,244,103 (GRCm39)	G8D	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	probably damaging	Het

Other mutations in Rbm18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Rbm18	APN	2	36,024,184 (GRCm39)	nonsense	probably null
R5061:Rbm18	UTSW	2	36,017,217 (GRCm39)	missense	possibly damaging	0.50
R7211:Rbm18	UTSW	2	36,012,905 (GRCm39)	nonsense	probably null
R8088:Rbm18	UTSW	2	36,017,196 (GRCm39)	missense	probably benign	0.34
R8733:Rbm18	UTSW	2	36,024,211 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18