Mutagenetix > Incidental Mutation

Incidental Mutation 'P0033:Rad54b'

7792

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

038284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

P0033 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11558930-11615806 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 11609285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070755]

AlphaFold

Q6PFE3

Predicted Effect

probably benign
Transcript: ENSMUST00000070755

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773

Domain	Start	End	E-Value	Type
low complexity region	113	121	N/A	INTRINSIC
low complexity region	164	178	N/A	INTRINSIC
DEXDc	270	470	4.36e-36	SMART
HELICc	652	736	6.14e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148576

Predicted Effect

probably benign
Transcript: ENSMUST00000178725

Coding Region Coverage

1x: 81.1%
3x: 72.9%
10x: 47.1%
20x: 23.7%

Validation Efficiency

86% (108/125)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an increased sensitivity to ionizing radiation and other agents of DNA damage but outherwise have a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Depdc1a	T	C	3: 159,221,778 (GRCm39)	S241P	probably damaging	Het
Dusp19	T	A	2: 80,447,729 (GRCm39)	M1K	probably null	Het
Egfem1	G	C	3: 29,744,340 (GRCm39)	Q526H	probably damaging	Het
Gm10856	C	A	15: 79,730,023 (GRCm39)		noncoding transcript	Het
Gm5901	A	G	7: 105,026,712 (GRCm39)	Y160C	probably damaging	Het
Hmg20a	A	G	9: 56,397,108 (GRCm39)	S303G	probably benign	Het
Lmbrd1	A	G	1: 24,724,646 (GRCm39)	T77A	possibly damaging	Het
Map3k5	C	T	10: 20,007,959 (GRCm39)		probably benign	Het
Ncapg2	G	A	12: 116,402,255 (GRCm39)	V696I	probably benign	Het
Orm3	A	T	4: 63,274,539 (GRCm39)	T35S	probably damaging	Het
Pdgfra	A	G	5: 75,353,222 (GRCm39)	E1004G	probably damaging	Het
Pigg	T	A	5: 108,489,944 (GRCm39)	F850I	probably damaging	Het
Ppip5k2	A	G	1: 97,645,253 (GRCm39)	V1067A	probably damaging	Het
Ptprd	T	A	4: 76,047,091 (GRCm39)	R392*	probably null	Het
Rapgef4	T	C	2: 71,967,675 (GRCm39)		probably benign	Het
Rasef	T	C	4: 73,668,089 (GRCm39)	N134S	probably benign	Het
Sfswap	C	T	5: 129,616,819 (GRCm39)	P421L	possibly damaging	Het
Sorcs1	T	A	19: 50,141,345 (GRCm39)	I1129F	probably damaging	Het
Spats2l	G	A	1: 57,924,997 (GRCm39)	E132K	probably damaging	Het
Tet3	A	G	6: 83,345,494 (GRCm39)	S1648P	probably damaging	Het
Ttc16	T	A	2: 32,652,586 (GRCm39)	T691S	probably benign	Het
Usp38	C	T	8: 81,708,525 (GRCm39)	D1018N	probably benign	Het
Zcchc14	A	C	8: 122,336,898 (GRCm39)		probably benign	Het

Other mutations in Rad54b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Rad54b	APN	4	11,593,765 (GRCm39)	missense	probably benign
IGL00774:Rad54b	APN	4	11,593,765 (GRCm39)	missense	probably benign
IGL00956:Rad54b	APN	4	11,597,833 (GRCm39)	missense	probably damaging	0.98
IGL00961:Rad54b	APN	4	11,599,699 (GRCm39)	missense	probably damaging	1.00
IGL01064:Rad54b	APN	4	11,604,866 (GRCm39)	missense	probably damaging	1.00
IGL02150:Rad54b	APN	4	11,610,502 (GRCm39)	missense	probably damaging	1.00
IGL02326:Rad54b	APN	4	11,612,713 (GRCm39)	missense	probably damaging	1.00
IGL03105:Rad54b	APN	4	11,615,569 (GRCm39)	missense	probably benign	0.00
IGL03143:Rad54b	APN	4	11,599,755 (GRCm39)	missense	probably damaging	1.00
IGL03288:Rad54b	APN	4	11,569,833 (GRCm39)	missense	possibly damaging	0.83
kerplunk	UTSW	4	11,612,655 (GRCm39)	missense	probably damaging	1.00
Schnipfel	UTSW	4	11,583,689 (GRCm39)	unclassified	probably benign
R0076:Rad54b	UTSW	4	11,609,480 (GRCm39)	unclassified	probably benign
R0094:Rad54b	UTSW	4	11,599,681 (GRCm39)	missense	possibly damaging	0.92
R0391:Rad54b	UTSW	4	11,601,702 (GRCm39)	missense	probably damaging	0.98
R0441:Rad54b	UTSW	4	11,563,394 (GRCm39)	missense	probably benign	0.08
R0442:Rad54b	UTSW	4	11,610,362 (GRCm39)	missense	probably benign	0.02
R0442:Rad54b	UTSW	4	11,609,480 (GRCm39)	unclassified	probably benign
R0449:Rad54b	UTSW	4	11,606,131 (GRCm39)	missense	probably benign	0.43
R0519:Rad54b	UTSW	4	11,599,809 (GRCm39)	missense	probably damaging	1.00
R0843:Rad54b	UTSW	4	11,609,471 (GRCm39)	critical splice donor site	probably null
R1118:Rad54b	UTSW	4	11,563,352 (GRCm39)	missense	probably damaging	1.00
R1439:Rad54b	UTSW	4	11,606,152 (GRCm39)	missense	possibly damaging	0.90
R1763:Rad54b	UTSW	4	11,604,989 (GRCm39)	missense	possibly damaging	0.52
R1812:Rad54b	UTSW	4	11,612,770 (GRCm39)	missense	probably damaging	1.00
R1854:Rad54b	UTSW	4	11,601,669 (GRCm39)	missense	probably damaging	1.00
R1917:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R1918:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R1919:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R2057:Rad54b	UTSW	4	11,606,088 (GRCm39)	missense	probably benign	0.08
R2386:Rad54b	UTSW	4	11,597,874 (GRCm39)	missense	probably benign
R2437:Rad54b	UTSW	4	11,606,272 (GRCm39)	missense	probably damaging	1.00
R4299:Rad54b	UTSW	4	11,597,865 (GRCm39)	missense	probably damaging	1.00
R4391:Rad54b	UTSW	4	11,615,570 (GRCm39)	missense	probably benign	0.00
R4672:Rad54b	UTSW	4	11,609,449 (GRCm39)	missense	probably benign	0.05
R4673:Rad54b	UTSW	4	11,609,449 (GRCm39)	missense	probably benign	0.05
R4826:Rad54b	UTSW	4	11,599,753 (GRCm39)	missense	probably damaging	1.00
R4930:Rad54b	UTSW	4	11,615,579 (GRCm39)	missense	probably damaging	0.99
R5796:Rad54b	UTSW	4	11,615,446 (GRCm39)	missense	probably benign	0.01
R5901:Rad54b	UTSW	4	11,595,919 (GRCm39)	missense	possibly damaging	0.84
R6185:Rad54b	UTSW	4	11,593,804 (GRCm39)	missense	possibly damaging	0.51
R6355:Rad54b	UTSW	4	11,604,989 (GRCm39)	missense	possibly damaging	0.52
R6576:Rad54b	UTSW	4	11,601,577 (GRCm39)	missense	probably benign
R6684:Rad54b	UTSW	4	11,583,689 (GRCm39)	unclassified	probably benign
R6821:Rad54b	UTSW	4	11,612,777 (GRCm39)	missense	probably damaging	1.00
R6947:Rad54b	UTSW	4	11,569,859 (GRCm39)	missense	possibly damaging	0.83
R7177:Rad54b	UTSW	4	11,599,755 (GRCm39)	missense	probably damaging	1.00
R7361:Rad54b	UTSW	4	11,599,782 (GRCm39)	missense	probably damaging	1.00
R7483:Rad54b	UTSW	4	11,610,372 (GRCm39)	missense	probably damaging	1.00
R7511:Rad54b	UTSW	4	11,578,956 (GRCm39)	splice site	probably null
R7847:Rad54b	UTSW	4	11,612,655 (GRCm39)	missense	probably damaging	1.00
R7908:Rad54b	UTSW	4	11,595,868 (GRCm39)	missense	probably null	0.01
R8198:Rad54b	UTSW	4	11,612,440 (GRCm39)	critical splice donor site	probably null
R9140:Rad54b	UTSW	4	11,610,386 (GRCm39)	missense	probably damaging	1.00
R9213:Rad54b	UTSW	4	11,609,321 (GRCm39)	nonsense	probably null

Posted On

2012-10-29