Mutagenetix > Incidental Mutation

Incidental Mutation 'R1527:Rad51ap1'

166285

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap1

Ensembl Gene

ENSMUSG00000030346

Gene Name

RAD51 associated protein 1

Synonyms

2510006L10Rik, RAB22

MMRRC Submission

039567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1527 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126900378-126916664 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 126905130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122978 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112220
AA Change: N127S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: N127S

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

possibly damaging
Transcript: ENSMUST00000112221
AA Change: N127S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: N127S

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: ENSMUST00000123837

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

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: ENSMUST00000200859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202191

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201760

Predicted Effect

probably benign
Transcript: ENSMUST00000202897

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	C	A	19: 21,575,633 (GRCm39)	C130F	probably damaging	Het
4933402N03Rik	T	C	7: 130,740,589 (GRCm39)	D209G	probably benign	Het
Adam7	A	G	14: 68,738,970 (GRCm39)	V744A	probably benign	Het
Atr	G	T	9: 95,752,096 (GRCm39)	R571I	possibly damaging	Het
C5ar1	A	G	7: 15,982,118 (GRCm39)	Y301H	probably damaging	Het
Cacna1d	A	G	14: 29,829,753 (GRCm39)	I954T	probably damaging	Het
Ccdc157	A	G	11: 4,101,795 (GRCm39)	F42S	probably damaging	Het
Cfap251	T	C	5: 123,425,408 (GRCm39)	V789A	probably benign	Het
Chd2	A	T	7: 73,140,362 (GRCm39)	L622*	probably null	Het
Csmd3	T	C	15: 47,811,483 (GRCm39)	T1203A	probably benign	Het
Cxcl17	A	G	7: 25,101,636 (GRCm39)	V67A	possibly damaging	Het
Ddx4	T	C	13: 112,758,773 (GRCm39)	T263A	possibly damaging	Het
Eps8l1	A	G	7: 4,474,393 (GRCm39)	D288G	probably benign	Het
Fbxl4	A	G	4: 22,386,154 (GRCm39)	K254E	probably benign	Het
Glis1	T	C	4: 107,425,123 (GRCm39)	S245P	probably damaging	Het
Gm11111	T	C	5: 98,701,387 (GRCm39)		probably benign	Het
Haus3	A	T	5: 34,311,397 (GRCm39)	H544Q	probably benign	Het
Hmcn1	A	G	1: 150,649,554 (GRCm39)	V644A	probably benign	Het
Lmo7	T	C	14: 102,114,264 (GRCm39)	L2P	probably damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Mga	A	G	2: 119,747,078 (GRCm39)	T410A	probably damaging	Het
Mical3	T	C	6: 121,001,740 (GRCm39)	D584G	probably damaging	Het
Miga1	A	T	3: 152,023,300 (GRCm39)	F250L	possibly damaging	Het
Mroh1	A	G	15: 76,336,463 (GRCm39)	D1553G	probably benign	Het
Myof	T	C	19: 37,913,067 (GRCm39)	Y1462C	probably damaging	Het
Notch4	T	C	17: 34,784,718 (GRCm39)	C144R	probably damaging	Het
Obox1	T	C	7: 15,289,250 (GRCm39)	V55A	probably damaging	Het
Or14j8	T	A	17: 38,263,720 (GRCm39)	H65L	possibly damaging	Het
Or4a69	C	T	2: 89,312,876 (GRCm39)	G201D	probably benign	Het
Or6c69c	T	A	10: 129,911,061 (GRCm39)	S261T	probably damaging	Het
Pclo	T	C	5: 14,729,662 (GRCm39)		probably benign	Het
Prr14l	C	T	5: 32,985,293 (GRCm39)	V1401I	possibly damaging	Het
Rev3l	T	A	10: 39,698,818 (GRCm39)	V1105D	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sgsm2	A	T	11: 74,744,674 (GRCm39)	C848*	probably null	Het
Slc39a10	A	T	1: 46,858,422 (GRCm39)	V625E	probably benign	Het
Spry4	C	T	18: 38,723,630 (GRCm39)	M44I	probably benign	Het
Stat5b	A	T	11: 100,699,220 (GRCm39)		probably null	Het
Tas2r126	T	C	6: 42,412,070 (GRCm39)	I201T	probably benign	Het
Tasor	T	C	14: 27,202,050 (GRCm39)		probably null	Het
Tex44	A	G	1: 86,355,368 (GRCm39)	T426A	probably benign	Het
Tln2	T	C	9: 67,179,950 (GRCm39)	D807G	possibly damaging	Het
Tlr9	A	G	9: 106,100,949 (GRCm39)	N80S	probably benign	Het
Trpm7	A	C	2: 126,672,082 (GRCm39)	H579Q	probably benign	Het
Ufd1	T	C	16: 18,633,661 (GRCm39)	S29P	probably damaging	Het
Ugt2a3	G	T	5: 87,473,457 (GRCm39)	Q487K	probably damaging	Het
Zfyve9	A	G	4: 108,552,964 (GRCm39)		probably null	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
R3018:Rad51ap1	UTSW	6	126,916,485 (GRCm39)	start gained	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'- ACAGCAGGTCCTCAGTCAGAGAAC -3'
(R):5'- AATATGTGCTGGCTCCTCCAGGTG -3'

Sequencing Primer
(F):5'- GGTCCTCAGTCAGAGAACAAAAC -3'
(R):5'- TCCTCCAGGTGAAACCACTG -3'

Posted On

2014-04-13