Mutagenetix > Incidental Mutation

Incidental Mutation 'R0179:Rad51d'

23057

Institutional Source

Beutler Lab

Gene Symbol

Rad51d

Ensembl Gene

ENSMUSG00000018841

Gene Name

RAD51 paralog D

Synonyms

Rad51l3, R51H3

MMRRC Submission

038447-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0179 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82767260-82781440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82780824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000117401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018985] [ENSMUST00000018988] [ENSMUST00000021033] [ENSMUST00000092844] [ENSMUST00000100718] [ENSMUST00000135963] [ENSMUST00000146053]

AlphaFold

O55230

Predicted Effect

probably benign
Transcript: ENSMUST00000018985
AA Change: V39A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
PDB:2KZ3\|A	1	83	2e-27	PDB
AAA	99	274	1.5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000018988

SMART Domains

Protein: ENSMUSP00000018988
Gene: ENSMUSG00000018844

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
FN3	176	264	9.48e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021033
AA Change: V39A

PolyPhen 2 Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
Pfam:Rad51	64	249	3e-15	PFAM
Pfam:AAA_25	69	200	2e-12	PFAM
Pfam:KaiC	82	148	1.4e-10	PFAM
Pfam:AAA_19	93	168	6.7e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092844
AA Change: V39A

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
Pfam:Rad51	66	130	2.4e-7	PFAM
Pfam:KaiC	82	129	8e-8	PFAM
Pfam:Rad51	115	274	8.5e-8	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100718
AA Change: V39A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
PDB:2KZ3\|A	1	83	5e-30	PDB
SCOP:d1b22a_	10	48	2e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135963
AA Change: V39A

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
low complexity region	28	40	N/A	INTRINSIC
low complexity region	49	59	N/A	INTRINSIC
Pfam:Rad51	64	219	7e-18	PFAM
Pfam:AAA_25	69	226	2.6e-15	PFAM
Pfam:KaiC	82	216	5.7e-12	PFAM
Pfam:AAA_19	93	168	1.4e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146053
AA Change: V39A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841
AA Change: V39A

Domain	Start	End	E-Value	Type
PDB:2KZ3\|A	1	48	1e-13	PDB
SCOP:d1b22a_	10	48	7e-5	SMART

Meta Mutation Damage Score

0.4915

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (81/83)

MGI Phenotype

FUNCTION: This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	C	T	16: 85,592,353 (GRCm39)	S948N	probably benign	Het
Adck1	A	T	12: 88,425,942 (GRCm39)	M457L	possibly damaging	Het
Adprm	A	T	11: 66,929,051 (GRCm39)	H313Q	possibly damaging	Het
Adss1	T	C	12: 112,598,703 (GRCm39)	I104T	probably benign	Het
Agxt2	A	C	15: 10,399,134 (GRCm39)	Q435P	possibly damaging	Het
Amotl1	G	A	9: 14,460,069 (GRCm39)	A890V	probably benign	Het
Ankrd50	A	G	3: 38,509,463 (GRCm39)	V968A	possibly damaging	Het
Brf2	T	C	8: 27,615,896 (GRCm39)	D163G	possibly damaging	Het
Cd226	C	A	18: 89,225,263 (GRCm39)	N53K	probably benign	Het
Cdc42ep2	T	C	19: 5,968,636 (GRCm39)	D23G	probably benign	Het
Cdc7	T	C	5: 107,112,905 (GRCm39)	S8P	probably benign	Het
Cdh8	C	T	8: 99,838,344 (GRCm39)	E499K	possibly damaging	Het
Chd7	T	A	4: 8,862,516 (GRCm39)	F2534L	probably benign	Het
Ckb	T	C	12: 111,636,610 (GRCm39)	T255A	probably benign	Het
Cntnap5c	G	T	17: 58,076,620 (GRCm39)	W19L	probably benign	Het
Cntrl	A	G	2: 35,057,871 (GRCm39)	E1854G	probably benign	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cop1	A	G	1: 159,077,636 (GRCm39)	D157G	probably benign	Het
Csf2rb	A	C	15: 78,220,572 (GRCm39)	Q38P	possibly damaging	Het
Ctla2b	T	C	13: 61,044,107 (GRCm39)	D52G	possibly damaging	Het
Dcaf7	A	T	11: 105,942,623 (GRCm39)	D190V	probably damaging	Het
Depdc5	T	A	5: 33,058,918 (GRCm39)		probably benign	Het
Dgkq	A	G	5: 108,806,066 (GRCm39)		probably benign	Het
Dhrs2	A	G	14: 55,477,933 (GRCm39)	T222A	probably damaging	Het
Dock1	G	A	7: 134,700,566 (GRCm39)	D1109N	probably damaging	Het
E4f1	G	C	17: 24,670,411 (GRCm39)	T92S	possibly damaging	Het
Ep400	A	T	5: 110,816,515 (GRCm39)	S2669T	probably damaging	Het
Eprs1	T	G	1: 185,145,744 (GRCm39)	D1184E	probably benign	Het
Fpr-rs4	A	T	17: 18,242,289 (GRCm39)	K99*	probably null	Het
Fzr1	A	T	10: 81,204,904 (GRCm39)		probably benign	Het
Gcc2	C	T	10: 58,112,472 (GRCm39)	R1001C	probably benign	Het
Gm4884	A	G	7: 40,693,252 (GRCm39)	D407G	probably benign	Het
Golga4	A	T	9: 118,389,808 (GRCm39)		probably null	Het
Gp2	T	G	7: 119,051,540 (GRCm39)	D225A	possibly damaging	Het
Gramd1a	T	A	7: 30,841,843 (GRCm39)	T120S	probably damaging	Het
Hbb-bh2	T	A	7: 103,488,434 (GRCm39)	N121I	probably benign	Het
Htr6	A	T	4: 138,789,437 (GRCm39)	L276Q	probably damaging	Het
Itga9	A	T	9: 118,490,454 (GRCm39)	I262F	probably benign	Het
Lamc3	A	G	2: 31,805,096 (GRCm39)		probably benign	Het
Large1	T	C	8: 73,825,474 (GRCm39)	N200S	probably benign	Het
Lct	C	T	1: 128,255,422 (GRCm39)	V207I	probably benign	Het
Marf1	C	A	16: 13,969,040 (GRCm39)	L144F	probably damaging	Het
Morc2b	A	T	17: 33,355,956 (GRCm39)	Y605*	probably null	Het
Mtus1	G	T	8: 41,455,398 (GRCm39)	L87I	possibly damaging	Het
Muc2	A	G	7: 141,302,708 (GRCm39)	Y17C	probably damaging	Het
Myf5	T	C	10: 107,321,779 (GRCm39)	D5G	possibly damaging	Het
Nasp	C	T	4: 116,459,354 (GRCm39)	V375M	probably damaging	Het
Nr1h2	A	T	7: 44,201,689 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,155,468 (GRCm39)	Q447R	probably benign	Het
Ntn5	G	A	7: 45,335,737 (GRCm39)	G56D	probably damaging	Het
Oasl2	A	G	5: 115,048,973 (GRCm39)	R138G	probably benign	Het
Or4c29	A	T	2: 88,740,237 (GRCm39)	C167S	possibly damaging	Het
Or5b124	T	A	19: 13,610,504 (GRCm39)	F10I	probably damaging	Het
Or9k7	T	C	10: 130,046,207 (GRCm39)	Y264C	probably damaging	Het
Pcdhb5	G	A	18: 37,455,612 (GRCm39)	G664D	probably damaging	Het
Ppp1r15a	T	C	7: 45,174,424 (GRCm39)	E128G	probably damaging	Het
Prpf19	T	C	19: 10,875,172 (GRCm39)		probably benign	Het
Ptpn3	T	A	4: 57,270,118 (GRCm39)	T15S	probably benign	Het
R3hdm2	G	A	10: 127,330,975 (GRCm39)	C818Y	probably damaging	Het
Rptor	A	T	11: 119,763,193 (GRCm39)	T926S	probably benign	Het
Rwdd4a	G	A	8: 47,995,742 (GRCm39)	D41N	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Spata31g1	T	C	4: 42,972,214 (GRCm39)	S516P	probably benign	Het
Ssbp3	T	C	4: 106,903,585 (GRCm39)	S334P	probably damaging	Het
Suco	A	G	1: 161,703,874 (GRCm39)		probably benign	Het
Synj1	T	C	16: 90,761,519 (GRCm39)	K649R	possibly damaging	Het
Tdp2	C	T	13: 25,024,431 (GRCm39)	H243Y	possibly damaging	Het
Tinag	A	G	9: 76,904,164 (GRCm39)		probably benign	Het
Trerf1	T	C	17: 47,627,588 (GRCm39)		noncoding transcript	Het
Trip10	T	C	17: 57,569,349 (GRCm39)		probably benign	Het
Tsen54	A	T	11: 115,712,856 (GRCm39)	S131C	probably damaging	Het
Unc5c	A	T	3: 141,523,828 (GRCm39)	R794*	probably null	Het
Vmn2r59	A	T	7: 41,696,432 (GRCm39)	Y103*	probably null	Het
Washc5	A	G	15: 59,224,379 (GRCm39)	V460A	probably benign	Het
Wdr87-ps	A	G	7: 29,235,365 (GRCm39)		noncoding transcript	Het
Whamm	A	G	7: 81,243,763 (GRCm39)	T358A	probably benign	Het
Xlr4b	C	T	X: 72,262,277 (GRCm39)		probably benign	Het
Zbbx	C	T	3: 74,992,869 (GRCm39)		probably benign	Het
Zdhhc23	G	A	16: 43,794,066 (GRCm39)	P203S	probably benign	Het
Zfp27	T	A	7: 29,595,850 (GRCm39)	E38D	possibly damaging	Het

Other mutations in Rad51d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Rad51d	APN	11	82,780,572 (GRCm39)	missense	probably damaging	1.00
IGL02755:Rad51d	APN	11	82,772,458 (GRCm39)	missense	probably benign	0.05
IGL03270:Rad51d	APN	11	82,772,420 (GRCm39)	splice site	probably benign
spew	UTSW	11	82,770,159 (GRCm39)	missense	probably damaging	0.99
R1440:Rad51d	UTSW	11	82,781,179 (GRCm39)	nonsense	probably null
R1771:Rad51d	UTSW	11	82,774,764 (GRCm39)	missense	probably damaging	1.00
R2106:Rad51d	UTSW	11	82,770,134 (GRCm39)	missense	probably damaging	1.00
R2340:Rad51d	UTSW	11	82,772,647 (GRCm39)	missense	probably damaging	1.00
R5396:Rad51d	UTSW	11	82,781,196 (GRCm39)	missense	possibly damaging	0.90
R6917:Rad51d	UTSW	11	82,770,159 (GRCm39)	missense	probably damaging	0.99
R6941:Rad51d	UTSW	11	82,780,623 (GRCm39)	missense	probably damaging	0.99
R8063:Rad51d	UTSW	11	82,780,597 (GRCm39)	missense	probably benign	0.04
R8910:Rad51d	UTSW	11	82,773,793 (GRCm39)	missense	probably damaging	0.97
R8923:Rad51d	UTSW	11	82,773,798 (GRCm39)	missense	probably damaging	1.00
R9723:Rad51d	UTSW	11	82,781,162 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCGCATACAAACCTTCCGATGCCG -3'
(R):5'- AGCCGAGGCAGAGGATTTTACTGAG -3'

Sequencing Primer
(F):5'- GGAAGTCTTCAGTTCCTCATAGAG -3'
(R):5'- CAGAGGATTTTACTGAGTGCTG -3'

Posted On

2013-04-16