Mutagenetix > Incidental Mutations

Incidental Mutation 'R4464:Rad51ap1'

330270

Institutional Source

Beutler Lab

Gene Symbol

Rad51ap1

Ensembl Gene

ENSMUSG00000030346

Gene Name

RAD51 associated protein 1

Synonyms

RAB22, 2510006L10Rik

MMRRC Submission

041722-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4464 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126923050-126939587 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126934768 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 52 (N52S)

Ref Sequence

ENSEMBL: ENSMUSP00000144327 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112220
AA Change: N52S

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107839
Gene: ENSMUSG00000030346
AA Change: N52S

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: N52S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107841
Gene: ENSMUSG00000030346
AA Change: N52S

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

possibly damaging
Transcript: ENSMUST00000144954
AA Change: N52S

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122978
Gene: ENSMUSG00000030346
AA Change: N52S

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: ENSMUST00000202835

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202897
AA Change: N52S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,839		probably benign	Het
Abcc3	A	G	11: 94,358,786	V1111A	probably benign	Het
Acot10	G	A	15: 20,665,744	R304*	probably null	Het
Aldh8a1	C	A	10: 21,388,941		probably benign	Het
Alms1	A	G	6: 85,620,021	T1079A	possibly damaging	Het
Armc3	T	C	2: 19,248,659	Y204H	probably damaging	Het
Asnsd1	C	A	1: 53,352,527		probably null	Het
Atad5	T	A	11: 80,100,311		probably null	Het
Cst12	G	A	2: 148,789,517	V53I	possibly damaging	Het
Cylc2	C	G	4: 51,229,651	T331R	unknown	Het
Dennd1a	A	T	2: 38,243,390		probably benign	Het
Fam213a	T	A	14: 40,997,875	K127N	probably damaging	Het
Gm7535	C	A	17: 17,911,662		probably benign	Het
Gpr158	T	A	2: 21,826,999	M970K	probably damaging	Het
Ifngr1	G	A	10: 19,597,517	V72I	possibly damaging	Het
Kifap3	C	A	1: 163,817,895	Q269K	probably benign	Het
Krt86	G	A	15: 101,473,914	D122N	probably damaging	Het
Lrrcc1	A	G	3: 14,557,318	K694E	probably damaging	Het
Mbd4	A	G	6: 115,849,502	L155S	probably damaging	Het
Nalcn	T	C	14: 123,323,350	N772D	probably benign	Het
Olfr109	C	T	17: 37,466,851	S215F	probably damaging	Het
Psg29	A	T	7: 17,210,650	N362Y	possibly damaging	Het
Ptpn23	G	A	9: 110,386,813	T1325I	probably damaging	Het
Rb1	C	A	14: 73,199,198		probably null	Het
Slc34a2	T	C	5: 53,069,182	L490P	probably damaging	Het
Sost	G	A	11: 101,966,844	P44S	probably damaging	Het
St3gal2	A	G	8: 110,967,502	N207D	probably benign	Het
Stat1	T	G	1: 52,137,416	D257E	possibly damaging	Het
Tkt	A	G	14: 30,568,274	T165A	possibly damaging	Het
Trim66	A	T	7: 109,477,690	S347R	possibly damaging	Het
Zfp429	T	C	13: 67,390,498	I276V	probably benign	Het

Other mutations in Rad51ap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Rad51ap1	APN	6	126928160	missense	probably damaging	1.00
IGL02371:Rad51ap1	APN	6	126927564	missense	probably benign	0.14
IGL02398:Rad51ap1	APN	6	126928151	missense	probably damaging	1.00
R0265:Rad51ap1	UTSW	6	126924197	makesense	probably null
R0359:Rad51ap1	UTSW	6	126934741	missense	probably damaging	1.00
R0488:Rad51ap1	UTSW	6	126934760	missense	possibly damaging	0.94
R1527:Rad51ap1	UTSW	6	126928167	splice site	probably null
R3018:Rad51ap1	UTSW	6	126939522	start gained	probably null
R4691:Rad51ap1	UTSW	6	126927553	missense	probably benign
R5314:Rad51ap1	UTSW	6	126928158	missense	probably damaging	1.00
R5469:Rad51ap1	UTSW	6	126928227	missense	probably damaging	0.96
R7177:Rad51ap1	UTSW	6	126925020	missense	probably benign	0.08
R8026:Rad51ap1	UTSW	6	126934712	critical splice donor site	probably null
R8356:Rad51ap1	UTSW	6	126924916	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAAGCACTTGATGGCACCTC -3'
(R):5'- ACCAGTGTTCATCATCAGTGAG -3'

Sequencing Primer
(F):5'- TTGATGGCACCTCCCCGTG -3'
(R):5'- GTGTTCATCATCAGTGAGACAAATTG -3'

Posted On

2015-07-21