Mutagenetix > Incidental Mutation

Incidental Mutation 'R7489:Rad51b'

580431

Institutional Source

Beutler Lab

Gene Symbol

Rad51b

Ensembl Gene

ENSMUSG00000059060

Gene Name

RAD51 paralog B

Synonyms

mREC2, R51H2, Rad51b

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7489 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79297282-79814690 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 79300585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 8 (R8*)

Ref Sequence

ENSEMBL: ENSMUSP00000128357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000079533] [ENSMUST00000171210] [ENSMUST00000218039] [ENSMUST00000218377]

AlphaFold

O35719

Predicted Effect

probably benign
Transcript: ENSMUST00000021547

SMART Domains

Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
low complexity region	233	244	N/A	INTRINSIC
low complexity region	752	775	N/A	INTRINSIC
low complexity region	778	796	N/A	INTRINSIC
low complexity region	982	1001	N/A	INTRINSIC
low complexity region	1073	1091	N/A	INTRINSIC
low complexity region	1104	1115	N/A	INTRINSIC
low complexity region	1151	1163	N/A	INTRINSIC
low complexity region	1177	1192	N/A	INTRINSIC
low complexity region	1228	1241	N/A	INTRINSIC
low complexity region	1565	1584	N/A	INTRINSIC
low complexity region	1743	1770	N/A	INTRINSIC
FYVE	1794	1863	1.49e-27	SMART
low complexity region	2486	2498	N/A	INTRINSIC
low complexity region	2517	2528	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000079533
AA Change: R8*

SMART Domains

Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: R8*

Domain	Start	End	E-Value	Type
Pfam:Rad51	61	256	3.1e-32	PFAM
Pfam:AAA_25	68	249	1.1e-15	PFAM
Pfam:KaiC	83	240	1.2e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171210
AA Change: R8*

SMART Domains

Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: R8*

Domain	Start	End	E-Value	Type
Pfam:Rad51	61	256	3e-33	PFAM
Pfam:AAA_25	68	241	2.8e-16	PFAM
Pfam:KaiC	83	241	3.6e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000218039
AA Change: R8*

Predicted Effect

probably benign
Transcript: ENSMUST00000218377

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	T	16: 88,627,234	V123D	probably damaging	Het
4930503E14Rik	A	T	14: 44,170,299	N92K	probably damaging	Het
4930519G04Rik	T	C	5: 114,879,625	S166P	unknown	Het
Adgrb3	G	A	1: 25,547,505	T369I	probably damaging	Het
Agbl4	T	C	4: 111,526,658	S237P	probably damaging	Het
Ahi1	T	C	10: 20,963,750	C187R	probably benign	Het
Akap9	C	T	5: 4,004,933	T1626M	probably damaging	Het
Alas1	A	T	9: 106,241,634		probably null	Het
Apbb1	G	T	7: 105,567,480	T301N	probably benign	Het
Arhgap42	A	G	9: 9,006,358	V679A	probably benign	Het
Atp2a2	T	C	5: 122,467,767	D375G	probably benign	Het
Best1	A	G	19: 9,997,046	S45P	possibly damaging	Het
Bpifb4	A	C	2: 153,944,004	T21P	probably damaging	Het
Btbd11	T	A	10: 85,627,215	Y615N	probably damaging	Het
Cdx2	A	T	5: 147,306,672	M104K	probably benign	Het
Ces1d	A	T	8: 93,178,131	L327Q	probably damaging	Het
Ces2e	A	G	8: 104,929,780	H214R	probably benign	Het
Chd5	G	A	4: 152,373,468	G1014D	probably damaging	Het
Cmya5	T	A	13: 93,091,838	K2247N	possibly damaging	Het
Dip2c	T	C	13: 9,533,312	V110A	probably damaging	Het
Fam71b	G	C	11: 46,407,441	G524A		Het
Fancd2	T	C	6: 113,564,304	S724P	probably benign	Het
Galnt1	T	A	18: 24,282,157	V485D	probably damaging	Het
Gli2	A	G	1: 118,838,175	S749P	probably benign	Het
H2-M5	A	C	17: 36,989,471	L12V	unknown	Het
Iqcf6	C	A	9: 106,627,457	Q107K	probably benign	Het
Itfg1	C	T	8: 85,767,001	C283Y	probably damaging	Het
Jak3	A	C	8: 71,684,292	K704T	probably damaging	Het
Kl	A	T	5: 150,952,996	T94S	probably damaging	Het
Krt73	A	C	15: 101,793,859	V523G	probably benign	Het
Lap3	T	C	5: 45,500,506	F215L	probably damaging	Het
Lce1c	G	A	3: 92,680,647	C127Y	unknown	Het
Map6	C	T	7: 99,268,061	R14C	probably damaging	Het
Mcm10	T	A	2: 5,001,301	K410M	probably damaging	Het
Med23	T	A	10: 24,904,356	N967K	probably damaging	Het
Mmp8	A	T	9: 7,561,387	T131S	probably benign	Het
Ms4a14	T	C	19: 11,302,031	I1054M	probably benign	Het
Mup14	A	G	4: 61,303,888	M1T	probably null	Het
Myzap	T	A	9: 71,561,038	T110S	probably benign	Het
Nmrk1	A	T	19: 18,642,242	K153M	probably damaging	Het
Nmrk1	G	T	19: 18,642,243	K153N	possibly damaging	Het
Olfr1267-ps1	T	A	2: 90,086,360	M34L	probably benign	Het
Olfr814	A	T	10: 129,874,682	I25N	probably damaging	Het
Pcdh12	T	C	18: 38,281,789	H761R	possibly damaging	Het
Pde4d	C	A	13: 109,116,767	L43I	unknown	Het
Prrc2a	A	T	17: 35,162,354	S46R	unknown	Het
Rab19	A	G	6: 39,388,105	T100A	probably benign	Het
Sclt1	A	T	3: 41,629,597	L642Q	probably damaging	Het
Scyl3	T	C	1: 163,949,176	I392T	possibly damaging	Het
Sipa1l3	A	G	7: 29,366,702	W1076R	probably damaging	Het
Slc12a9	C	A	5: 137,322,820	A478S	probably damaging	Het
Slc5a9	C	A	4: 111,883,916	C511F	probably damaging	Het
Sspo	T	C	6: 48,473,713	L2612P	probably damaging	Het
Synrg	C	T	11: 83,990,825	T329I	probably benign	Het
Tdrd9	A	G	12: 112,067,637	T1338A	probably benign	Het
Tenm4	A	T	7: 96,837,314	D996V	possibly damaging	Het
Ticam2	T	A	18: 46,560,517	I168L	probably damaging	Het
Tom1l1	T	C	11: 90,656,359	I374M	probably benign	Het
Trip10	A	T	17: 57,250,966	K51I	probably damaging	Het
Trpc6	T	A	9: 8,656,544	D735E	probably benign	Het
Trpm8	T	A	1: 88,379,759	N1050K	possibly damaging	Het
Tuba8	A	T	6: 121,226,021	D431V	probably damaging	Het
Ucn2	C	T	9: 108,986,254	T28I	possibly damaging	Het
Vmn1r21	C	T	6: 57,843,892	G189D	probably damaging	Het
Vmn2r8	T	C	5: 108,797,656	N695S	possibly damaging	Het
Xirp2	A	C	2: 67,525,560	N3555T	possibly damaging	Het
Zfp119a	A	T	17: 55,866,158	H228Q	probably damaging	Het
Zfr	T	A	15: 12,152,982	H566Q	probably benign	Het

Other mutations in Rad51b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Rad51b	APN	12	79302553	missense	probably benign	0.00
IGL01599:Rad51b	APN	12	79327228	missense	probably benign	0.30
IGL02955:Rad51b	APN	12	79325082	nonsense	probably null
R1544:Rad51b	UTSW	12	79302543	missense	possibly damaging	0.87
R2998:Rad51b	UTSW	12	79302489	missense	probably damaging	1.00
R3784:Rad51b	UTSW	12	79300645	nonsense	probably null
R4076:Rad51b	UTSW	12	79314882	missense	probably damaging	1.00
R5916:Rad51b	UTSW	12	79325082	nonsense	probably null
R7765:Rad51b	UTSW	12	79803270	critical splice donor site	probably null
R8160:Rad51b	UTSW	12	79303341	missense	probably benign	0.00
R8206:Rad51b	UTSW	12	79314941	missense	probably damaging	1.00
R8489:Rad51b	UTSW	12	79327250	missense	probably benign	0.08
R8977:Rad51b	UTSW	12	79657888	missense	probably damaging	1.00
R9015:Rad51b	UTSW	12	79300643	missense	probably damaging	1.00
R9073:Rad51b	UTSW	12	79297665	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCCGGTTGTAAGTGTCTTTC -3'
(R):5'- AAGCATCGCTGTTTAACTCAC -3'

Sequencing Primer
(F):5'- GCTTTGCACATAGAGAAGT -3'
(R):5'- GGCAAGGACTTTACTGATGCCATC -3'

Posted On

2019-10-07