Mutagenetix > Incidental Mutation

Incidental Mutation 'R9723:Rad51d'

730935

Institutional Source

Beutler Lab

Gene Symbol

Rad51d

Ensembl Gene

ENSMUSG00000018841

Gene Name

RAD51 paralog D

Synonyms

Rad51l3, R51H3

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82767260-82781440 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 82781162 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018985 (fasta)

Gene Model

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

AlphaFold

O55230

Predicted Effect

probably null
Transcript: ENSMUST00000018985

SMART Domains

Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841

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

probably benign
Transcript: ENSMUST00000021033

SMART Domains

Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841

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

probably benign
Transcript: ENSMUST00000092844

SMART Domains

Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841

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

probably benign
Transcript: ENSMUST00000100718

SMART Domains

Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841

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

SMART Domains

Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841

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

probably benign
Transcript: ENSMUST00000146053

SMART Domains

Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	G	A	1: 75,156,366 (GRCm39)	R133W	probably benign	Het
Abcc3	T	A	11: 94,250,725 (GRCm39)	T877S	probably benign	Het
Alb	A	T	5: 90,611,962 (GRCm39)	K130N	probably damaging	Het
Alkbh8	G	A	9: 3,385,283 (GRCm39)	S560N	probably benign	Het
Angel2	T	G	1: 190,671,342 (GRCm39)	L234R	probably damaging	Het
Catip	C	T	1: 74,403,745 (GRCm39)	T154I	probably benign	Het
Ccdc163	C	T	4: 116,569,595 (GRCm39)	Q102*	probably null	Het
Cep250	A	G	2: 155,823,337 (GRCm39)	E997G	probably benign	Het
Ces2f	T	C	8: 105,677,463 (GRCm39)	I183T	possibly damaging	Het
Commd8	A	G	5: 72,318,309 (GRCm39)	V158A	possibly damaging	Het
Cyp2b9	C	T	7: 25,909,596 (GRCm39)	Q455*	probably null	Het
D5Ertd579e	G	T	5: 36,772,284 (GRCm39)	H704N	probably damaging	Het
Dnah1	T	C	14: 30,987,946 (GRCm39)	T3491A	probably damaging	Het
Dnai1	T	G	4: 41,603,302 (GRCm39)	F195C	possibly damaging	Het
Dock7	A	G	4: 98,908,270 (GRCm39)	V620A		Het
Dock7	A	T	4: 98,960,660 (GRCm39)	D289E		Het
Dpys	T	A	15: 39,691,509 (GRCm39)	E271V	probably damaging	Het
Elovl3	T	C	19: 46,123,155 (GRCm39)	Y244H	probably damaging	Het
Enam	G	A	5: 88,652,241 (GRCm39)	G1250E	probably damaging	Het
Espl1	C	T	15: 102,229,170 (GRCm39)	T1774M	probably benign	Het
Fasl	T	C	1: 161,615,535 (GRCm39)	K107R	probably benign	Het
Fbn1	A	T	2: 125,202,119 (GRCm39)	C1251*	probably null	Het
Fn1	G	T	1: 71,663,369 (GRCm39)	Q1040K	possibly damaging	Het
Frem3	C	T	8: 81,341,352 (GRCm39)	S1215L	probably benign	Het
G3bp2	A	T	5: 92,214,388 (GRCm39)	D135E	possibly damaging	Het
Gabpb1	C	T	2: 126,488,648 (GRCm39)	V240I	probably benign	Het
Galnt12	C	G	4: 47,119,541 (GRCm39)	Y452*	probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gm12258	C	T	11: 58,750,448 (GRCm39)	P541L	unknown	Het
Gm12789	T	A	4: 101,846,083 (GRCm39)	W115R	possibly damaging	Het
Gm8126	T	C	14: 43,119,141 (GRCm39)		probably null	Het
Gpr179	A	T	11: 97,225,546 (GRCm39)	L2203H	possibly damaging	Het
H1f6	A	G	13: 23,879,906 (GRCm39)	K20E	probably damaging	Het
Hapln3	A	T	7: 78,771,736 (GRCm39)	V51E	possibly damaging	Het
Ifit1	A	G	19: 34,626,257 (GRCm39)	*464W	probably null	Het
Il1r1	A	C	1: 40,332,721 (GRCm39)	I137L	probably benign	Het
Il1rap	T	A	16: 26,442,907 (GRCm39)	M1K	probably null	Het
Lgi2	A	G	5: 52,695,843 (GRCm39)	L372P	probably damaging	Het
Lrrc46	A	G	11: 96,925,773 (GRCm39)	S230P	possibly damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Mapk8ip3	C	A	17: 25,132,585 (GRCm39)	W339L	possibly damaging	Het
Msln	A	T	17: 25,969,008 (GRCm39)	M459K	possibly damaging	Het
Msr1	A	G	8: 40,042,357 (GRCm39)	V406A	possibly damaging	Het
Ndst2	G	T	14: 20,775,512 (GRCm39)	D659E	probably benign	Het
Npat	T	A	9: 53,473,746 (GRCm39)	S513T	probably benign	Het
Npat	T	G	9: 53,481,861 (GRCm39)	L1190V	probably damaging	Het
Npc1	A	G	18: 12,343,649 (GRCm39)	I448T	probably benign	Het
Omd	T	C	13: 49,743,838 (GRCm39)	F296S	probably damaging	Het
Oprm1	A	G	10: 6,788,514 (GRCm39)	N423S	possibly damaging	Het
Oxtr	G	A	6: 112,466,304 (GRCm39)	T152I	probably benign	Het
Pak2	A	T	16: 31,852,650 (GRCm39)	V297E	probably damaging	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Pet100	G	A	8: 3,672,374 (GRCm39)	M20I	probably damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Plekhn1	A	G	4: 156,306,875 (GRCm39)	S505P	probably benign	Het
Plin5	G	A	17: 56,423,290 (GRCm39)	A90V	probably damaging	Het
Poc5	A	G	13: 96,551,026 (GRCm39)	T526A	probably benign	Het
Potefam1	T	C	2: 111,058,700 (GRCm39)	H84R	probably damaging	Het
Pramel7	C	T	2: 87,320,019 (GRCm39)	V425I	possibly damaging	Het
Rbp3	T	C	14: 33,677,474 (GRCm39)	M474T	possibly damaging	Het
Rcan3	A	G	4: 135,152,680 (GRCm39)	S14P	probably benign	Het
Rps6ka4	A	T	19: 6,816,663 (GRCm39)	V140E	probably damaging	Het
Rsbn1l	G	A	5: 21,101,464 (GRCm39)	S692L	possibly damaging	Het
Sgk1	A	T	10: 21,872,239 (GRCm39)	I272F	probably damaging	Het
Skor1	A	G	9: 63,053,714 (GRCm39)	V85A	probably damaging	Het
Slc12a1	A	T	2: 125,059,827 (GRCm39)	D909V	probably damaging	Het
Slc25a18	C	A	6: 120,770,489 (GRCm39)	A283E	probably benign	Het
Slc41a1	T	C	1: 131,772,103 (GRCm39)	L411P	possibly damaging	Het
Spata13	T	C	14: 60,928,498 (GRCm39)	S19P	probably damaging	Het
Stab1	T	A	14: 30,885,848 (GRCm39)	H42L	probably benign	Het
Stag3	T	A	5: 138,298,103 (GRCm39)	D698E	probably benign	Het
Syngap1	G	A	17: 27,189,510 (GRCm39)	R1305H	possibly damaging	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trappc9	A	G	15: 72,461,963 (GRCm39)	Y1101H	possibly damaging	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Uhrf1	A	G	17: 56,625,061 (GRCm39)	K535E	probably damaging	Het
Usp14	G	T	18: 10,009,993 (GRCm39)	Q185K	probably damaging	Het
Usp32	A	T	11: 84,935,536 (GRCm39)	Y413*	probably null	Het
Uvssa	G	A	5: 33,547,382 (GRCm39)		probably null	Het
Vmn1r177	A	T	7: 23,565,774 (GRCm39)	L34Q	probably damaging	Het
Wdr41	T	C	13: 95,151,671 (GRCm39)	L277P	probably damaging	Het
Zc2hc1b	T	A	10: 13,044,497 (GRCm39)	L55F	probably damaging	Het
Zfp345	A	C	2: 150,314,189 (GRCm39)	Y449*	probably null	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
R0179:Rad51d	UTSW	11	82,780,824 (GRCm39)	missense	possibly damaging	0.90
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

Predicted Primers

PCR Primer
(F):5'- TACCTATCTCGAGCACGCAG -3'
(R):5'- GCCTAGAGTCTTGCGAGTTG -3'

Sequencing Primer
(F):5'- ACGCAGGCCCTGATGCAG -3'
(R):5'- GGACCTTTTCCCTAAGTAGAACTGAG -3'

Posted On

2022-10-06