Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01599:Rad51b'

92047

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad51b

Ensembl Gene

ENSMUSG00000059060

Gene Name

RAD51 paralog B

Synonyms

R51H2, mREC2, Rad51l1, Rad51b

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01599

Quality Score

Status

Chromosome

Chromosomal Location

79344056-79861464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79374002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 194 (S194T)

Ref Sequence

ENSEMBL: ENSMUSP00000152105 (fasta)

Gene Model

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

AlphaFold

O35719

Predicted Effect

probably benign
Transcript: ENSMUST00000079533
AA Change: S194T

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: S194T

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 benign
Transcript: ENSMUST00000171210
AA Change: S194T

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: S194T

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 benign
Transcript: ENSMUST00000218039
AA Change: S194T

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221257

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,856 (GRCm39)	V105A	probably benign	Het
Acr	T	C	15: 89,452,617 (GRCm39)	V18A	probably benign	Het
Adgra2	G	A	8: 27,608,761 (GRCm39)	A540T	possibly damaging	Het
Aldh16a1	A	G	7: 44,791,517 (GRCm39)	F753L	probably damaging	Het
Ankfy1	T	A	11: 72,629,191 (GRCm39)	Y338N	probably benign	Het
Aox3	C	T	1: 58,208,953 (GRCm39)	R829C	probably damaging	Het
Arhgef11	T	C	3: 87,644,353 (GRCm39)	S1535P	probably benign	Het
C4b	A	G	17: 34,961,993 (GRCm39)		probably benign	Het
Ccdc157	A	G	11: 4,098,781 (GRCm39)	C242R	probably damaging	Het
Cep135	T	A	5: 76,741,194 (GRCm39)	M90K	possibly damaging	Het
Cfap36	A	T	11: 29,194,057 (GRCm39)		probably null	Het
Chl1	A	G	6: 103,685,445 (GRCm39)	T829A	probably benign	Het
Copb2	T	C	9: 98,463,203 (GRCm39)	S473P	probably damaging	Het
Cpb1	C	T	3: 20,306,118 (GRCm39)		probably null	Het
Cpsf1	A	G	15: 76,480,741 (GRCm39)	L1295P	probably damaging	Het
Dmp1	C	T	5: 104,360,328 (GRCm39)	Q335*	probably null	Het
Dyrk1a	T	A	16: 94,492,743 (GRCm39)	S621T	possibly damaging	Het
Exoc5	T	A	14: 49,272,421 (GRCm39)	Q331L	probably benign	Het
Fmnl1	G	A	11: 103,077,482 (GRCm39)	V287M	probably damaging	Het
Fras1	T	C	5: 96,857,750 (GRCm39)	S2015P	possibly damaging	Het
Gm7052	T	C	17: 22,258,985 (GRCm39)		probably benign	Het
Gprc5c	A	G	11: 114,755,078 (GRCm39)	I252V	probably benign	Het
Ints3	C	T	3: 90,301,629 (GRCm39)		probably null	Het
L1td1	A	G	4: 98,625,581 (GRCm39)	D592G	probably damaging	Het
Lamb3	A	G	1: 193,025,720 (GRCm39)	M1137V	probably benign	Het
Leng8	C	A	7: 4,148,481 (GRCm39)	A751E	probably benign	Het
Lfng	T	C	5: 140,598,290 (GRCm39)	V204A	probably damaging	Het
Lsm14b	A	G	2: 179,674,396 (GRCm39)	D233G	probably damaging	Het
Map4	C	T	9: 109,863,836 (GRCm39)	P354S	probably benign	Het
Mapt	G	A	11: 104,185,741 (GRCm39)	V53M	probably damaging	Het
Mier1	T	G	4: 103,012,738 (GRCm39)	S377A	possibly damaging	Het
Neurog1	T	C	13: 56,399,660 (GRCm39)	D29G	probably damaging	Het
Npr3	G	A	15: 11,895,875 (GRCm39)	A257V	probably damaging	Het
Nup188	T	C	2: 30,217,537 (GRCm39)	V824A	possibly damaging	Het
Olfm4	T	C	14: 80,258,750 (GRCm39)	S333P	probably damaging	Het
Or7g30	T	G	9: 19,353,111 (GRCm39)	F301V	probably benign	Het
Or9a4	A	C	6: 40,549,186 (GRCm39)	I289L	probably damaging	Het
Pbxip1	C	A	3: 89,350,897 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,633,124 (GRCm39)	C38F	probably damaging	Het
Plb1	A	T	5: 32,499,888 (GRCm39)		probably benign	Het
Plcz1	T	C	6: 139,947,982 (GRCm39)		probably benign	Het
Plxnb1	T	C	9: 108,939,672 (GRCm39)	V1447A	probably damaging	Het
Pnldc1	A	T	17: 13,125,415 (GRCm39)	M73K	probably benign	Het
Psg20	C	T	7: 18,414,963 (GRCm39)	V311M	possibly damaging	Het
Psmd2	G	T	16: 20,478,155 (GRCm39)		probably null	Het
Rabgap1	T	C	2: 37,446,281 (GRCm39)	V859A	probably damaging	Het
Rb1cc1	C	T	1: 6,318,995 (GRCm39)	Q788*	probably null	Het
Ror2	C	T	13: 53,265,653 (GRCm39)	G468R	probably damaging	Het
Slamf7	A	G	1: 171,468,754 (GRCm39)	I46T	possibly damaging	Het
Stab2	A	G	10: 86,758,759 (GRCm39)	S1060P	probably damaging	Het
Syndig1	T	A	2: 149,845,203 (GRCm39)	V242E	probably damaging	Het
Tgfbr3	G	A	5: 107,266,317 (GRCm39)	T801M	probably damaging	Het
Tmem132c	T	C	5: 127,436,616 (GRCm39)		probably benign	Het
Trav21-dv12	T	C	14: 54,114,188 (GRCm39)	Y103H	probably damaging	Het
Tut4	T	C	4: 108,370,596 (GRCm39)	S871P	possibly damaging	Het
Ubr3	T	C	2: 69,768,522 (GRCm39)	V443A	probably damaging	Het
Uhrf2	G	T	19: 30,069,520 (GRCm39)	C749F	probably damaging	Het
Ulk2	G	T	11: 61,682,262 (GRCm39)	S751*	probably null	Het
Wrn	G	A	8: 33,731,039 (GRCm39)	P1098S	possibly damaging	Het
Xrcc5	T	C	1: 72,385,508 (GRCm39)	V533A	possibly damaging	Het
Zc3h13	T	C	14: 75,547,163 (GRCm39)	S223P	probably damaging	Het

Other mutations in Rad51b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Rad51b	APN	12	79,349,327 (GRCm39)	missense	probably benign	0.00
IGL02955:Rad51b	APN	12	79,371,856 (GRCm39)	nonsense	probably null
R1544:Rad51b	UTSW	12	79,349,317 (GRCm39)	missense	possibly damaging	0.87
R2998:Rad51b	UTSW	12	79,349,263 (GRCm39)	missense	probably damaging	1.00
R3784:Rad51b	UTSW	12	79,347,419 (GRCm39)	nonsense	probably null
R4076:Rad51b	UTSW	12	79,361,656 (GRCm39)	missense	probably damaging	1.00
R5916:Rad51b	UTSW	12	79,371,856 (GRCm39)	nonsense	probably null
R7489:Rad51b	UTSW	12	79,347,359 (GRCm39)	nonsense	probably null
R7765:Rad51b	UTSW	12	79,850,044 (GRCm39)	critical splice donor site	probably null
R8160:Rad51b	UTSW	12	79,350,115 (GRCm39)	missense	probably benign	0.00
R8206:Rad51b	UTSW	12	79,361,715 (GRCm39)	missense	probably damaging	1.00
R8489:Rad51b	UTSW	12	79,374,024 (GRCm39)	missense	probably benign	0.08
R8977:Rad51b	UTSW	12	79,704,662 (GRCm39)	missense	probably damaging	1.00
R9015:Rad51b	UTSW	12	79,347,417 (GRCm39)	missense	probably damaging	1.00
R9073:Rad51b	UTSW	12	79,344,439 (GRCm39)	unclassified	probably benign

Posted On

2013-12-09