Mutagenetix > Incidental Mutation

Incidental Mutation 'V7732:Rabac1'

44035

Institutional Source

Beutler Lab

Gene Symbol

Rabac1

Ensembl Gene

ENSMUSG00000003380

Gene Name

Rab acceptor 1 (prenylated)

Synonyms

PRA1, Gbpap1, prenylin, 2310040I06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

V7732 () of strain may

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

24669175-24672153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24671644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 51 (Q51L)

Ref Sequence

ENSEMBL: ENSMUSP00000076227 (fasta)

Gene Model

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

AlphaFold

Q9Z0S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000076961
AA Change: Q51L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076227
Gene: ENSMUSG00000003380
AA Change: Q51L

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 damaging
Transcript: ENSMUST00000205871
AA Change: Q92L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206941

Meta Mutation Damage Score

0.1411

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.9%
20x: 90.3%

Validation Efficiency

96% (25/26)

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	T	C	16: 35,103,911 (GRCm39)	F793L	probably benign	Het
Atmin	C	T	8: 117,683,218 (GRCm39)	P293S	probably damaging	Het
Card11	G	A	5: 140,862,250 (GRCm39)	R1016*	probably null	Het
Cep89	A	G	7: 35,102,523 (GRCm39)	S79G	probably damaging	Het
Cic	T	C	7: 24,991,670 (GRCm39)	V2227A	probably benign	Het
Clcn6	A	G	4: 148,098,412 (GRCm39)	V534A	probably damaging	Het
Dpep2	T	A	8: 106,715,892 (GRCm39)	H124L	probably damaging	Het
Elfn1	G	A	5: 139,957,194 (GRCm39)	R66Q	probably damaging	Het
Fanca	G	A	8: 124,031,020 (GRCm39)		probably benign	Het
Ggh	T	A	4: 20,046,225 (GRCm39)	F44L	probably benign	Het
Gpr37	T	C	6: 25,669,122 (GRCm39)	Y574C	probably benign	Het
Heatr5a	C	A	12: 51,952,107 (GRCm39)	A1178S	possibly damaging	Het
Igsf9	A	G	1: 172,317,960 (GRCm39)	T106A	probably benign	Het
Itpr3	G	C	17: 27,330,000 (GRCm39)		probably null	Het
Itpr3	G	T	17: 27,329,998 (GRCm39)		probably benign	Het
Nlrp6	G	A	7: 140,506,561 (GRCm39)		probably benign	Het
Rgma	A	G	7: 73,067,068 (GRCm39)	T108A	probably damaging	Het
Rps24	A	G	14: 24,541,830 (GRCm39)	T6A	probably damaging	Het
Sarm1	T	A	11: 78,378,891 (GRCm39)	T385S	probably benign	Het
Spata17	T	C	1: 186,780,677 (GRCm39)	T357A	possibly damaging	Het
Ufl1	T	C	4: 25,251,368 (GRCm39)	I711V	probably damaging	Het
Vwa3a	A	G	7: 120,378,172 (GRCm39)		probably benign	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
R1228:Rabac1	UTSW	7	24,671,523 (GRCm39)	splice site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TGAGGTTACGTCCTTCTAGGCCAG -3'
(R):5'- CGGGCTATTTACAGCGGTTCTATCC -3'

Sequencing Primer
(F):5'- CCGGGTCCTGTAGTGACAAAG -3'
(R):5'- GTTACCCCCAGATCCGAGATG -3'

Posted On

2013-05-31