Mutagenetix > Incidental Mutation

Incidental Mutation 'R8910:Rad51d'

678569

Institutional Source

Beutler Lab

Gene Symbol

Rad51d

Ensembl Gene

ENSMUSG00000018841

Gene Name

RAD51 paralog D

Synonyms

Rad51l3, R51H3

MMRRC Submission

068701-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82767260-82781440 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82773793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 166 (R166G)

Ref Sequence

ENSEMBL: ENSMUSP00000018985 (fasta)

Gene Model

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

AlphaFold

O55230

Predicted Effect

probably damaging
Transcript: ENSMUST00000018985
AA Change: R166G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: R166G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000021033
AA Change: R166G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
AA Change: R166G

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 damaging
Transcript: ENSMUST00000092844
AA Change: R121G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: R121G

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

possibly damaging
Transcript: ENSMUST00000135963
AA Change: R166G

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: R166G

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: 98.9%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	G	13: 77,471,768 (GRCm39)	I1058V	probably benign	Het
Abca5	T	C	11: 110,189,030 (GRCm39)	E809G	probably damaging	Het
Akap12	A	T	10: 4,263,822 (GRCm39)	Q77L	probably benign	Het
Aldh5a1	A	G	13: 25,102,599 (GRCm39)	V288A	probably damaging	Het
Alox5	C	A	6: 116,389,510 (GRCm39)	E586*	probably null	Het
Anxa2r1	T	A	13: 120,508,356 (GRCm39)		probably benign	Het
Arid5b	A	G	10: 67,934,108 (GRCm39)	F598S		Het
Btc	A	C	5: 91,508,671 (GRCm39)	M157R	probably benign	Het
Cadps2	T	C	6: 23,344,223 (GRCm39)	N908S	probably benign	Het
Cd244a	C	A	1: 171,386,941 (GRCm39)	H17N	probably damaging	Het
Cdh15	T	C	8: 123,575,240 (GRCm39)	L5P	probably benign	Het
Cep15	A	G	14: 12,285,444 (GRCm38)	H10R	probably benign	Het
Cept1	A	C	3: 106,446,565 (GRCm39)	S94A	probably benign	Het
Cntn4	T	C	6: 106,632,497 (GRCm39)	M507T	probably benign	Het
Cpne4	A	G	9: 104,799,706 (GRCm39)		probably benign	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dlgap1	C	T	17: 71,093,815 (GRCm39)	T712I	probably damaging	Het
Dnhd1	A	C	7: 105,332,904 (GRCm39)	H155P	possibly damaging	Het
Dpyd	A	G	3: 118,404,167 (GRCm39)	K38R	probably benign	Het
Evx1	C	T	6: 52,293,746 (GRCm39)	R305C	probably damaging	Het
Ezr	A	G	17: 7,023,299 (GRCm39)	L47P	probably damaging	Het
Fabp6	C	T	11: 43,492,335 (GRCm39)	A2T	possibly damaging	Het
Fam78a	G	A	2: 31,959,681 (GRCm39)	T143M	probably damaging	Het
Fam83h	C	T	15: 75,874,844 (GRCm39)	G831D	probably benign	Het
Fermt2	G	A	14: 45,702,389 (GRCm39)	A465V	probably damaging	Het
Fras1	T	C	5: 96,715,855 (GRCm39)	S358P	probably benign	Het
Frem1	C	A	4: 82,868,694 (GRCm39)	G1429V	probably benign	Het
Fst	T	A	13: 114,590,245 (GRCm39)		probably benign	Het
Gfpt1	T	C	6: 87,030,787 (GRCm39)	I57T	probably benign	Het
Gimap6	A	G	6: 48,679,388 (GRCm39)	I216T	probably damaging	Het
Gm10267	T	A	18: 44,289,511 (GRCm39)	N73I	possibly damaging	Het
H2-M2	G	A	17: 37,792,413 (GRCm39)	T286I	probably damaging	Het
Hgs	T	C	11: 120,369,202 (GRCm39)		probably null	Het
Klra6	T	C	6: 129,993,647 (GRCm39)	E208G	probably benign	Het
L3mbtl1	A	T	2: 162,812,213 (GRCm39)	T753S	probably benign	Het
Larp6	A	G	9: 60,620,526 (GRCm39)	E13G	probably benign	Het
Mroh2b	A	G	15: 4,960,855 (GRCm39)	I806V	probably benign	Het
Myo1g	T	C	11: 6,468,009 (GRCm39)	N142S	possibly damaging	Het
Myo3a	A	G	2: 22,464,280 (GRCm39)	T1112A	probably benign	Het
Or4b1b	C	A	2: 90,126,848 (GRCm39)	R119L	possibly damaging	Het
Pelp1	A	T	11: 70,287,461 (GRCm39)	M449K	probably damaging	Het
Ppp4r1	T	C	17: 66,144,768 (GRCm39)	V795A	probably damaging	Het
Ppp4r3b	G	T	11: 29,146,290 (GRCm39)	M372I	probably null	Het
Ptprk	T	C	10: 28,368,993 (GRCm39)	V655A	possibly damaging	Het
Rbm19	T	A	5: 120,271,844 (GRCm39)	Y650N	probably damaging	Het
Rreb1	A	G	13: 38,132,741 (GRCm39)	K204E		Het
Ryr1	A	G	7: 28,771,340 (GRCm39)	L2567P	probably damaging	Het
Scn3a	T	A	2: 65,338,883 (GRCm39)	S599C	probably damaging	Het
Slc7a15	T	A	12: 8,589,117 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,182,716 (GRCm39)	T12A	probably benign	Het
Tbc1d10b	T	C	7: 126,806,938 (GRCm39)	T200A	probably benign	Het
Tex21	C	T	12: 76,263,533 (GRCm39)		probably benign	Het
Thap4	T	C	1: 93,642,666 (GRCm39)	H515R	probably damaging	Het
Tmem94	A	G	11: 115,688,252 (GRCm39)	Q1237R	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Unc5a	A	G	13: 55,151,401 (GRCm39)	E695G	possibly damaging	Het
Wtip	G	A	7: 33,832,063 (GRCm39)	P141L	possibly damaging	Het
Wwp1	A	T	4: 19,627,741 (GRCm39)	M718K	possibly damaging	Het
Zbtb25	A	C	12: 76,395,908 (GRCm39)	V438G	probably damaging	Het
Zfp444	T	C	7: 6,187,026 (GRCm39)	L46P	probably damaging	Het
Zfp521	T	C	18: 13,977,233 (GRCm39)	H1060R	probably benign	Het
Zkscan14	A	G	5: 145,132,190 (GRCm39)	F447S	probably 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
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
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'- ATTCCGAATACAGTCCGTGG -3'
(R):5'- ATCGGTCCTTCCTGCTGAATG -3'

Sequencing Primer
(F):5'- CGAATACAGTCCGTGGTCAGAC -3'
(R):5'- TGAATGTCGTACAGCTCAGC -3'

Posted On

2021-08-02