Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00088:Rad51d'

1147

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad51d

Ensembl Gene

ENSMUSG00000018841

Gene Name

RAD51 paralog D

Synonyms

Rad51l3, R51H3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

82767260-82781440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82780572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 70 (D70G)

Ref Sequence

ENSEMBL: ENSMUSP00000098284 (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: D70G

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: D70G

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: D70G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: D70G

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: D70G

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

SMART Domains

Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: D70G

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 damaging
Transcript: ENSMUST00000100718
AA Change: D70G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
AA Change: D70G

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: D70G

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: D70G

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

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankhd1	A	G	18: 36,798,512 (GRCm39)		probably benign	Het
Anpep	A	G	7: 79,475,484 (GRCm39)	V879A	possibly damaging	Het
Asb13	T	G	13: 3,693,476 (GRCm39)	V78G	probably null	Het
Atad2b	A	G	12: 5,074,593 (GRCm39)	R1051G	probably damaging	Het
Bdp1	T	C	13: 100,235,018 (GRCm39)	Y192C	probably damaging	Het
C1ql2	G	T	1: 120,269,399 (GRCm39)	G185C	probably damaging	Het
Catsperg2	A	G	7: 29,404,829 (GRCm39)	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,600,387 (GRCm39)	S52T	unknown	Het
Col4a2	G	T	8: 11,493,685 (GRCm39)	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,760,388 (GRCm39)	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,392,079 (GRCm39)	N125I	probably benign	Het
Cyp2t4	A	T	7: 26,854,723 (GRCm39)	M68L	probably benign	Het
Dclk2	T	A	3: 86,706,397 (GRCm39)		probably null	Het
Dmxl2	T	C	9: 54,308,988 (GRCm39)	D1921G	probably benign	Het
Dnah10	G	A	5: 124,905,667 (GRCm39)	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,036,108 (GRCm39)	I273T	probably damaging	Het
Extl1	T	C	4: 134,085,330 (GRCm39)	K596E	probably damaging	Het
Fads3	A	T	19: 10,029,663 (GRCm39)	D108V	probably null	Het
Fam135b	A	G	15: 71,322,343 (GRCm39)	L1274P	probably damaging	Het
Fat1	T	A	8: 45,477,639 (GRCm39)	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,128,502 (GRCm39)	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,036,840 (GRCm39)		probably null	Het
Gpr137	A	C	19: 6,917,072 (GRCm39)	V139G	probably damaging	Het
Ikbke	A	G	1: 131,197,749 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,655,636 (GRCm39)	N285Y	probably benign	Het
Kcnu1	G	A	8: 26,387,884 (GRCm39)	C566Y	probably benign	Het
Klhl29	G	A	12: 5,190,705 (GRCm39)	P97S	probably benign	Het
Lama4	T	C	10: 38,941,591 (GRCm39)		probably benign	Het
Lhx6	G	A	2: 35,981,728 (GRCm39)		probably benign	Het
Mdn1	T	C	4: 32,723,651 (GRCm39)	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086 (GRCm38)	G1321R	probably benign	Het
Naa15	T	A	3: 51,345,826 (GRCm39)	V19D	probably damaging	Het
Ncbp3	A	T	11: 72,964,355 (GRCm39)		probably benign	Het
Nckipsd	G	A	9: 108,692,168 (GRCm39)	V530I	probably benign	Het
Neb	A	G	2: 52,198,759 (GRCm39)	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,503,224 (GRCm39)		probably benign	Het
Nup58	T	A	14: 60,480,026 (GRCm39)	I207L	probably benign	Het
Or14j2	A	T	17: 37,885,808 (GRCm39)	C169S	probably damaging	Het
Or5ae1	T	A	7: 84,565,578 (GRCm39)	M197K	probably damaging	Het
Or5k16	C	T	16: 58,736,213 (GRCm39)	E264K	probably benign	Het
Otud4	T	A	8: 80,399,510 (GRCm39)	N741K	probably damaging	Het
Pard6a	T	A	8: 106,429,833 (GRCm39)	C264S	probably benign	Het
Plch2	T	C	4: 155,091,099 (GRCm39)	N276S	probably damaging	Het
Pramel31	T	A	4: 144,089,100 (GRCm39)	H139Q	possibly damaging	Het
Pramel32	T	A	4: 88,547,307 (GRCm39)	K121N	probably benign	Het
Racgap1	T	C	15: 99,534,003 (GRCm39)		probably benign	Het
Recql4	C	T	15: 76,591,536 (GRCm39)	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,443,762 (GRCm39)	S149T	probably benign	Het
Rpl13a	C	A	7: 44,776,495 (GRCm39)		probably null	Het
Scn10a	T	C	9: 119,501,292 (GRCm39)	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,594,784 (GRCm39)	I1878V	probably benign	Het
Sgcg	T	A	14: 61,477,796 (GRCm39)	R98*	probably null	Het
Speer4c2	C	A	5: 15,861,884 (GRCm39)		probably benign	Het
Tas2r140	A	T	6: 40,468,274 (GRCm39)	I35F	probably benign	Het
Tex19.2	A	G	11: 121,007,638 (GRCm39)	F270S	possibly damaging	Het
Traip	C	T	9: 107,847,749 (GRCm39)	R391W	probably benign	Het
Trim7	A	G	11: 48,736,398 (GRCm39)	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,067,351 (GRCm39)	V8D	probably benign	Het
Tut7	T	C	13: 59,964,512 (GRCm39)	E221G	probably damaging	Het
Ubr3	A	C	2: 69,819,154 (GRCm39)	I9L	probably benign	Het
Usp42	A	G	5: 143,702,897 (GRCm39)	S575P	probably benign	Het
Vmn2r52	G	T	7: 9,903,023 (GRCm39)	H468Q	probably benign	Het
Vmn2r59	T	A	7: 41,661,488 (GRCm39)	T776S	possibly damaging	Het

Other mutations in Rad51d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9723:Rad51d	UTSW	11	82,781,162 (GRCm39)	critical splice donor site	probably null

Posted On

2011-07-12