Mutagenetix > Incidental Mutation

Incidental Mutation 'R3018:Rad51ap1'

257688

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap1

Ensembl Gene

ENSMUSG00000030346

Gene Name

RAD51 associated protein 1

Synonyms

2510006L10Rik, RAB22

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3018 (G1)

Quality Score

101

Status

Not validated

Chromosome

Chromosomal Location

126900378-126916664 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 126916485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122978 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032497] [ENSMUST00000112220] [ENSMUST00000112221] [ENSMUST00000144954] [ENSMUST00000202897] [ENSMUST00000201617]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032497

SMART Domains

Protein: ENSMUSP00000032497
Gene: ENSMUSG00000030347

Domain	Start	End	E-Value	Type
Pfam:DUF2362	41	546	4.4e-218	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000112220

SMART Domains

Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346

Domain	Start	End	E-Value	Type
low complexity region	179	204	N/A	INTRINSIC
low complexity region	211	221	N/A	INTRINSIC
low complexity region	289	303	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000112221

SMART Domains

Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346

Domain	Start	End	E-Value	Type
low complexity region	180	205	N/A	INTRINSIC
low complexity region	212	222	N/A	INTRINSIC
Pfam:RAD51_interact	293	331	1.9e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141212

Predicted Effect

probably null
Transcript: ENSMUST00000144954

SMART Domains

Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346

Domain	Start	End	E-Value	Type
low complexity region	121	146	N/A	INTRINSIC
low complexity region	153	163	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201113

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202835

Predicted Effect

probably benign
Transcript: ENSMUST00000202897

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202086

Predicted Effect

probably benign
Transcript: ENSMUST00000201617

SMART Domains

Protein: ENSMUSP00000144570
Gene: ENSMUSG00000030347

Domain	Start	End	E-Value	Type
Pfam:DUF2362	41	83	2.4e-7	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,676,853 (GRCm39)	V126A	probably benign	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Dnm3	T	A	1: 162,149,328 (GRCm39)	K206*	probably null	Het
Grxcr1	C	T	5: 68,267,860 (GRCm39)	S203F	probably damaging	Het
Matn3	A	T	12: 9,013,578 (GRCm39)	D420V	probably benign	Het
Mlf2	G	T	6: 124,909,467 (GRCm39)	M48I	probably benign	Het
Moxd2	T	A	6: 40,855,820 (GRCm39)	T590S	probably benign	Het
Myh2	A	G	11: 67,070,410 (GRCm39)	D451G	possibly damaging	Het
Neurod4	T	C	10: 130,106,824 (GRCm39)	E150G	probably damaging	Het
Nynrin	A	T	14: 56,100,867 (GRCm39)	E219V	probably benign	Het
Rpl38	T	A	11: 114,559,761 (GRCm39)	F11L	possibly damaging	Het
Serinc5	T	C	13: 92,825,189 (GRCm39)	M206T	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Tnk1	C	T	11: 69,745,737 (GRCm39)		probably benign	Het
Trim41	G	T	11: 48,698,521 (GRCm39)	R482S	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Zfp292	G	A	4: 34,808,814 (GRCm39)	T1410I	probably damaging	Het

Other mutations in Rad51ap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Rad51ap1	APN	6	126,905,123 (GRCm39)	missense	probably damaging	1.00
IGL02371:Rad51ap1	APN	6	126,904,527 (GRCm39)	missense	probably benign	0.14
IGL02398:Rad51ap1	APN	6	126,905,114 (GRCm39)	missense	probably damaging	1.00
R0265:Rad51ap1	UTSW	6	126,901,160 (GRCm39)	makesense	probably null
R0359:Rad51ap1	UTSW	6	126,911,704 (GRCm39)	missense	probably damaging	1.00
R0488:Rad51ap1	UTSW	6	126,911,723 (GRCm39)	missense	possibly damaging	0.94
R1527:Rad51ap1	UTSW	6	126,905,130 (GRCm39)	splice site	probably null
R4464:Rad51ap1	UTSW	6	126,911,731 (GRCm39)	missense	possibly damaging	0.94
R4691:Rad51ap1	UTSW	6	126,904,516 (GRCm39)	missense	probably benign
R5314:Rad51ap1	UTSW	6	126,905,121 (GRCm39)	missense	probably damaging	1.00
R5469:Rad51ap1	UTSW	6	126,905,190 (GRCm39)	missense	probably damaging	0.96
R7177:Rad51ap1	UTSW	6	126,901,983 (GRCm39)	missense	probably benign	0.08
R8026:Rad51ap1	UTSW	6	126,911,675 (GRCm39)	critical splice donor site	probably null
R8356:Rad51ap1	UTSW	6	126,901,879 (GRCm39)	critical splice donor site	probably null
R9652:Rad51ap1	UTSW	6	126,904,526 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTCAAATGCTAGCCTACCAGGTC -3'
(R):5'- TCTGAGCAGACAGGATCCAG -3'

Sequencing Primer
(F):5'- AGCCTACCAGGTCCCTCTG -3'
(R):5'- CAGGATCCAGGATGGCGTG -3'

Posted On

2015-01-11