Mutagenetix > Incidental Mutation

Incidental Mutation 'R1440:Rad51d'

160953

Institutional Source

Beutler Lab

Gene Symbol

Rad51d

Ensembl Gene

ENSMUSG00000018841

Gene Name

RAD51 paralog D

Synonyms

Rad51l3, R51H3

MMRRC Submission

039495-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1440 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

82767260-82781440 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 82781179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 23 (R23*)

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 null
Transcript: ENSMUST00000018985
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: R23*

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

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000021033
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: R23*

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 null
Transcript: ENSMUST00000092844
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: R23*

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 null
Transcript: ENSMUST00000100718
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
AA Change: R23*

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

Predicted Effect

probably null
Transcript: ENSMUST00000135963
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: R23*

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 null
Transcript: ENSMUST00000146053
AA Change: R23*

SMART Domains

Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841
AA Change: R23*

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

0.9755

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.7%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	G	12: 72,928,195 (GRCm39)	N512T	possibly damaging	Het
Aadacl2	A	T	3: 59,932,313 (GRCm39)	H276L	probably damaging	Het
Adam12	G	A	7: 133,533,543 (GRCm39)	T445M	probably benign	Het
Ash2l	A	T	8: 26,317,406 (GRCm39)	F290L	probably benign	Het
Asxl3	C	T	18: 22,658,281 (GRCm39)	P2097L	probably benign	Het
Atmin	A	G	8: 117,684,115 (GRCm39)	I592V	probably damaging	Het
Atxn2	T	C	5: 121,941,145 (GRCm39)		probably null	Het
BC004004	T	C	17: 29,515,665 (GRCm39)		probably null	Het
Cacna1e	T	C	1: 154,437,552 (GRCm39)	N328S	possibly damaging	Het
Cacna2d1	A	T	5: 16,560,493 (GRCm39)	K765I	probably damaging	Het
Cc2d1a	A	G	8: 84,860,604 (GRCm39)		probably null	Het
Ccdc28b	A	G	4: 129,514,408 (GRCm39)	V198A	probably benign	Het
Ces1b	G	T	8: 93,794,736 (GRCm39)	R288S	probably damaging	Het
Cfap100	T	G	6: 90,389,166 (GRCm39)	T198P	probably benign	Het
Clint1	T	C	11: 45,781,610 (GRCm39)	S227P	probably damaging	Het
Cntn5	C	A	9: 10,145,344 (GRCm39)	C122F	probably damaging	Het
Col3a1	A	G	1: 45,382,472 (GRCm39)		probably null	Het
Cyp4a10	A	C	4: 115,386,646 (GRCm39)	D431A	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,060,617 (GRCm39)		probably benign	Het
Dlgap2	T	C	8: 14,777,060 (GRCm39)	S102P	probably benign	Het
Dnah7b	G	A	1: 46,117,753 (GRCm39)		probably benign	Het
Dock10	A	C	1: 80,526,853 (GRCm39)	S1124A	probably benign	Het
Dscam	C	T	16: 96,621,151 (GRCm39)	R519H	probably damaging	Het
Efcab3	A	T	11: 104,999,581 (GRCm39)		probably benign	Het
Evi2a	G	T	11: 79,418,096 (GRCm39)	N171K	probably damaging	Het
Fbxl15	T	C	19: 46,318,684 (GRCm39)	L286P	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Gcat	C	T	15: 78,918,194 (GRCm39)	A84V	probably null	Het
Gls	A	G	1: 52,230,293 (GRCm39)	F473L	possibly damaging	Het
Gnat1	T	C	9: 107,554,164 (GRCm39)	D169G	probably damaging	Het
Grm3	A	C	5: 9,639,958 (GRCm39)	M29R	probably benign	Het
Herc1	A	T	9: 66,375,085 (GRCm39)	D3303V	probably damaging	Het
Ibsp	G	A	5: 104,458,405 (GRCm39)	G314D	unknown	Het
Irag2	C	T	6: 145,120,237 (GRCm39)	T484M	possibly damaging	Het
Lgr6	C	A	1: 134,915,210 (GRCm39)	A513S	probably damaging	Het
Lrriq4	T	A	3: 30,704,910 (GRCm39)	C313S	probably damaging	Het
Marchf10	G	T	11: 105,281,409 (GRCm39)	T292K	probably damaging	Het
Mcoln2	C	A	3: 145,896,137 (GRCm39)	Y6*	probably null	Het
Mup4	A	G	4: 59,958,076 (GRCm39)	I164T	probably damaging	Het
Myo1b	T	C	1: 51,817,717 (GRCm39)		probably benign	Het
Ncam1	A	G	9: 49,456,100 (GRCm39)	I506T	probably damaging	Het
Notch1	A	T	2: 26,370,976 (GRCm39)		probably benign	Het
Nr4a3	A	T	4: 48,051,777 (GRCm39)	Q177L	probably benign	Het
Nsun4	A	G	4: 115,910,147 (GRCm39)	S138P	possibly damaging	Het
Or1a1	A	G	11: 74,086,505 (GRCm39)	M59V	probably damaging	Het
Or2b6	G	T	13: 21,823,560 (GRCm39)	N44K	probably benign	Het
Or2d36	A	T	7: 106,747,405 (GRCm39)	N294I	probably damaging	Het
Or4k5	T	C	14: 50,385,815 (GRCm39)	N172S	probably damaging	Het
Pagr1a	A	T	7: 126,615,469 (GRCm39)		probably benign	Het
Pcdhb2	A	T	18: 37,429,343 (GRCm39)	I82L	probably benign	Het
Pds5b	A	T	5: 150,677,882 (GRCm39)	N500I	probably damaging	Het
Pik3r6	A	T	11: 68,422,271 (GRCm39)	E223D	possibly damaging	Het
Pkhd1l1	A	T	15: 44,404,384 (GRCm39)		probably benign	Het
Prex1	T	C	2: 166,422,383 (GRCm39)	D1204G	probably damaging	Het
Prickle1	C	T	15: 93,402,955 (GRCm39)	E244K	possibly damaging	Het
Ptprd	A	T	4: 76,002,789 (GRCm39)	V211E	probably damaging	Het
Rapgef6	G	A	11: 54,517,534 (GRCm39)	G262R	probably damaging	Het
Reln	A	G	5: 22,333,600 (GRCm39)		probably benign	Het
Rev1	T	C	1: 38,127,286 (GRCm39)	T325A	probably damaging	Het
Rnd3	T	A	2: 51,022,518 (GRCm39)	I175L	probably benign	Het
Rp1	C	A	1: 4,417,619 (GRCm39)	L1164F	probably damaging	Het
S100a7a	T	C	3: 90,562,942 (GRCm39)	V43A	probably benign	Het
Scaper	A	C	9: 55,510,202 (GRCm39)	Y1104*	probably null	Het
Scn2a	T	A	2: 65,594,938 (GRCm39)	V1929D	probably benign	Het
Scn3a	T	C	2: 65,359,785 (GRCm39)	N141S	possibly damaging	Het
Slc12a7	T	G	13: 73,949,127 (GRCm39)	L718R	probably damaging	Het
Slc15a2	T	C	16: 36,605,005 (GRCm39)		probably benign	Het
Slc35b3	G	A	13: 39,138,110 (GRCm39)	Q100*	probably null	Het
Slc9a5	T	A	8: 106,081,785 (GRCm39)	V170E	possibly damaging	Het
Snx5	T	G	2: 144,096,731 (GRCm39)	K278T	possibly damaging	Het
Sorbs2	T	C	8: 46,243,000 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,873,647 (GRCm39)	W1008*	probably null	Het
Stab2	C	T	10: 86,697,231 (GRCm39)		probably null	Het
Tacc3	A	G	5: 33,825,321 (GRCm39)	E377G	probably benign	Het
Tango6	T	C	8: 107,415,671 (GRCm39)	L164P	probably damaging	Het
Tbc1d12	T	A	19: 38,902,796 (GRCm39)	S570T	possibly damaging	Het
Thbs1	T	C	2: 117,944,836 (GRCm39)	F217L	probably damaging	Het
Tmbim6	T	A	15: 99,300,004 (GRCm39)	V40E	probably damaging	Het
Tmigd1	A	T	11: 76,800,986 (GRCm39)	N158Y	probably damaging	Het
Top3b	C	T	16: 16,710,641 (GRCm39)	R824*	probably null	Het
Tram1l1	A	T	3: 124,115,580 (GRCm39)	K247*	probably null	Het
Tsc2	T	C	17: 24,833,366 (GRCm39)	Y686C	probably damaging	Het
Tsga10	T	C	1: 37,858,680 (GRCm39)	Q218R	probably damaging	Het
Uba6	G	T	5: 86,288,282 (GRCm39)	A439D	probably damaging	Het
Ubn1	C	A	16: 4,895,158 (GRCm39)	P735T	probably damaging	Het
Usp40	A	G	1: 87,909,808 (GRCm39)	S549P	probably benign	Het
Utp20	T	C	10: 88,655,201 (GRCm39)	T176A	probably benign	Het
Utp4	T	G	8: 107,624,685 (GRCm39)		probably benign	Het
Xpo5	C	T	17: 46,518,853 (GRCm39)		probably benign	Het
Zfp979	A	T	4: 147,698,493 (GRCm39)	I72K	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
R0179:Rad51d	UTSW	11	82,780,824 (GRCm39)	missense	possibly damaging	0.90
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'- AGGAATGGCTTAGCCTTGCCAC -3'
(R):5'- ACGCCAGGACCTTTTCCCTAAGTAG -3'

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

Posted On

2014-03-14