Mutagenetix > Incidental Mutation

Incidental Mutation 'R1228:Rabac1'

175031

Institutional Source

Beutler Lab

Gene Symbol

Rabac1

Ensembl Gene

ENSMUSG00000003380

Gene Name

Rab acceptor 1 (prenylated)

Synonyms

PRA1, Gbpap1, prenylin, 2310040I06Rik

MMRRC Submission

039297-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1228 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24669175-24672153 bp(-) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

T to C at 24671523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076961] [ENSMUST00000205871]

AlphaFold

Q9Z0S9

Predicted Effect

probably null
Transcript: ENSMUST00000076961

SMART Domains

Protein: ENSMUSP00000076227
Gene: ENSMUSG00000003380

Domain	Start	End	E-Value	Type
Pfam:PRA1	37	177	3.2e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205771

Predicted Effect

probably null
Transcript: ENSMUST00000205871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206941

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	A	17: 35,364,309 (GRCm39)	S863R	probably damaging	Het
Ccdc181	C	T	1: 164,113,960 (GRCm39)	R455*	probably null	Het
Clvs2	T	C	10: 33,498,600 (GRCm39)	N110S	probably benign	Het
Enpp1	T	A	10: 24,521,310 (GRCm39)	I806F	probably benign	Het
Entrep1	A	G	19: 23,956,829 (GRCm39)	S355P	probably benign	Het
Fli1	T	C	9: 32,335,139 (GRCm39)	Y431C	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Klhl25	C	T	7: 75,515,868 (GRCm39)	A258V	probably benign	Het
Krt13	T	C	11: 100,012,303 (GRCm39)	S7G	probably benign	Het
Pakap	T	A	4: 57,856,909 (GRCm39)	I787N	probably damaging	Het
Pappa	T	C	4: 65,258,926 (GRCm39)	F1558S	probably damaging	Het
Phc3	A	T	3: 30,976,404 (GRCm39)	N721K	possibly damaging	Het
Plxna4	A	T	6: 32,201,087 (GRCm39)		probably null	Het
Rims1	T	C	1: 22,511,837 (GRCm39)	D572G	probably null	Het
Rpia	T	C	6: 70,768,880 (GRCm39)	N85S	probably benign	Het
Sh3gl3	A	G	7: 81,824,723 (GRCm39)	M1V	probably null	Het
Skint6	T	C	4: 112,711,649 (GRCm39)	N956S	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Sp110	G	A	1: 85,519,481 (GRCm39)	P116S	probably benign	Het
Spata7	T	C	12: 98,600,528 (GRCm39)	L47P	probably damaging	Het
Tcea2	G	T	2: 181,326,238 (GRCm39)	V81F	probably benign	Het
Ttbk1	A	T	17: 46,787,638 (GRCm39)		probably null	Het
Vmn2r77	G	A	7: 86,450,242 (GRCm39)		probably null	Het

Other mutations in Rabac1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0413:Rabac1	UTSW	7	24,669,607 (GRCm39)	missense	probably damaging	1.00
R1511:Rabac1	UTSW	7	24,671,555 (GRCm39)	missense	probably damaging	1.00
R4515:Rabac1	UTSW	7	24,669,585 (GRCm39)	nonsense	probably null
R4878:Rabac1	UTSW	7	24,669,392 (GRCm39)	missense	possibly damaging	0.56
R8437:Rabac1	UTSW	7	24,671,672 (GRCm39)	missense	probably damaging	0.99
R9594:Rabac1	UTSW	7	24,671,579 (GRCm39)	missense	probably benign	0.01
V7732:Rabac1	UTSW	7	24,671,644 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CGGAAGTTTGCATTCCGTGAGACC -3'
(R):5'- TGCTGCCCAAGCTGATTCCATC -3'

Sequencing Primer
(F):5'- CTCTAGCTTTGGACACAGACTGAG -3'
(R):5'- AAGCTGATTCCATCCGGCG -3'

Posted On

2014-04-24