Mutagenetix > Incidental Mutation

Incidental Mutation 'R0076:Rad54b'

17191

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

038363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0076 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11558922-11615805 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 11609480 bp (GRCm38)

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.9%
3x: 87.5%
10x: 81.6%
20x: 72.8%

Validation Efficiency

92% (83/90)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 120,373,685		probably benign	Het
Acpp	A	G	9: 104,324,218		probably benign	Het
Ada	T	A	2: 163,727,603		probably benign	Het
Ankrd17	T	A	5: 90,244,406	K1693*	probably null	Het
Arhgef38	T	A	3: 133,160,746	H210L	possibly damaging	Het
Car10	G	A	11: 93,490,597	E129K	possibly damaging	Het
Cask	A	G	X: 13,678,274		probably benign	Het
Cd19	T	C	7: 126,410,862	D406G	probably damaging	Het
Cd93	T	C	2: 148,442,136	D430G	probably benign	Het
Cds1	T	C	5: 101,817,840		probably benign	Het
Cerkl	A	T	2: 79,343,289	S259T	possibly damaging	Het
Cog8	T	C	8: 107,054,133	I164M	possibly damaging	Het
Col4a1	G	A	8: 11,218,713	P1009L	probably damaging	Het
Col9a1	G	A	1: 24,237,497		probably null	Het
Dcc	G	A	18: 71,321,046	Q1241*	probably null	Het
Dock3	A	C	9: 106,911,486		probably benign	Het
Dus1l	A	T	11: 120,792,808		probably benign	Het
Dvl2	G	A	11: 70,008,100	E438K	probably damaging	Het
Eif3g	A	G	9: 20,897,753	F85S	probably damaging	Het
Fam234b	A	G	6: 135,227,226	M456V	probably benign	Het
Fbxo47	G	A	11: 97,857,655		probably benign	Het
Fyb2	A	G	4: 104,945,464	T188A	possibly damaging	Het
Gm11437	T	C	11: 84,148,636	T288A	possibly damaging	Het
Gm5546	T	A	3: 104,353,132		noncoding transcript	Het
Gmfb	C	A	14: 46,817,455	A11S	probably benign	Het
Gpat4	G	A	8: 23,190,705		probably benign	Het
Ifitm6	T	A	7: 141,016,007	R124S	possibly damaging	Het
Il17rd	T	A	14: 27,094,854	L172Q	probably damaging	Het
Il4	A	T	11: 53,613,914	L13Q	probably damaging	Het
Kif2b	A	G	11: 91,575,909	M516T	probably damaging	Het
Kmt2a	A	G	9: 44,830,059		probably benign	Het
Maats1	G	A	16: 38,302,684	Q661*	probably null	Het
Mark1-ps1	T	A	17: 53,947,877		noncoding transcript	Het
Mndal	G	T	1: 173,874,447	C96*	probably null	Het
Mroh1	T	C	15: 76,451,140	S1365P	probably benign	Het
Mrpl12	A	G	11: 120,485,442		probably benign	Het
Mthfsd	C	A	8: 121,098,739	V270F	probably benign	Het
Nbas	T	A	12: 13,324,336	V555D	probably damaging	Het
Pcdhb16	T	C	18: 37,478,359	V124A	probably damaging	Het
Pla2g10	T	A	16: 13,715,518	Y131F	possibly damaging	Het
Plec	T	C	15: 76,191,414		probably benign	Het
Polr2b	T	A	5: 77,326,561	V415E	possibly damaging	Het
Pou6f1	G	A	15: 100,587,836	Q106*	probably null	Het
Ptprd	T	C	4: 75,947,039		probably benign	Het
Rspo1	G	A	4: 124,991,397	R22Q	probably benign	Het
Scn7a	A	G	2: 66,714,037	V370A	probably benign	Het
Sec1	A	G	7: 45,678,891	V244A	probably damaging	Het
Serac1	A	G	17: 6,064,937		probably benign	Het
Slco2b1	A	T	7: 99,685,501	Y254*	probably null	Het
Steap3	G	A	1: 120,227,730	R500C	probably damaging	Het
Stk10	A	G	11: 32,603,722	T580A	probably benign	Het
Tpo	C	T	12: 30,104,023	G228R	probably damaging	Het
Tpx2	T	C	2: 152,893,683	F744L	probably damaging	Het
Ube3b	G	T	5: 114,408,217		probably null	Het
Vmn2r84	A	G	10: 130,394,193	S17P	probably damaging	Het
Vps13d	A	T	4: 145,164,694		probably benign	Het
Zfp532	T	A	18: 65,685,627	S851R	probably benign	Het
Zfp623	G	A	15: 75,947,209	E5K	probably benign	Het

Other mutations in Rad54b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Rad54b	APN	4	11593765	missense	probably benign
IGL00774:Rad54b	APN	4	11593765	missense	probably benign
IGL00956:Rad54b	APN	4	11597833	missense	probably damaging	0.98
IGL00961:Rad54b	APN	4	11599699	missense	probably damaging	1.00
IGL01064:Rad54b	APN	4	11604866	missense	probably damaging	1.00
IGL02150:Rad54b	APN	4	11610502	missense	probably damaging	1.00
IGL02326:Rad54b	APN	4	11612713	missense	probably damaging	1.00
IGL03105:Rad54b	APN	4	11615569	missense	probably benign	0.00
IGL03143:Rad54b	APN	4	11599755	missense	probably damaging	1.00
IGL03288:Rad54b	APN	4	11569833	missense	possibly damaging	0.83
kerplunk	UTSW	4	11612655	missense	probably damaging	1.00
Schnipfel	UTSW	4	11583689	unclassified	probably benign
P0033:Rad54b	UTSW	4	11609285	unclassified	probably benign
R0094:Rad54b	UTSW	4	11599681	missense	possibly damaging	0.92
R0391:Rad54b	UTSW	4	11601702	missense	probably damaging	0.98
R0441:Rad54b	UTSW	4	11563394	missense	probably benign	0.08
R0442:Rad54b	UTSW	4	11609480	unclassified	probably benign
R0442:Rad54b	UTSW	4	11610362	missense	probably benign	0.02
R0449:Rad54b	UTSW	4	11606131	missense	probably benign	0.43
R0519:Rad54b	UTSW	4	11599809	missense	probably damaging	1.00
R0843:Rad54b	UTSW	4	11609471	critical splice donor site	probably null
R1118:Rad54b	UTSW	4	11563352	missense	probably damaging	1.00
R1439:Rad54b	UTSW	4	11606152	missense	possibly damaging	0.90
R1763:Rad54b	UTSW	4	11604989	missense	possibly damaging	0.52
R1812:Rad54b	UTSW	4	11612770	missense	probably damaging	1.00
R1854:Rad54b	UTSW	4	11601669	missense	probably damaging	1.00
R1917:Rad54b	UTSW	4	11601693	missense	probably damaging	1.00
R1918:Rad54b	UTSW	4	11601693	missense	probably damaging	1.00
R1919:Rad54b	UTSW	4	11601693	missense	probably damaging	1.00
R2057:Rad54b	UTSW	4	11606088	missense	probably benign	0.08
R2386:Rad54b	UTSW	4	11597874	missense	probably benign
R2437:Rad54b	UTSW	4	11606272	missense	probably damaging	1.00
R4299:Rad54b	UTSW	4	11597865	missense	probably damaging	1.00
R4391:Rad54b	UTSW	4	11615570	missense	probably benign	0.00
R4672:Rad54b	UTSW	4	11609449	missense	probably benign	0.05
R4673:Rad54b	UTSW	4	11609449	missense	probably benign	0.05
R4826:Rad54b	UTSW	4	11599753	missense	probably damaging	1.00
R4930:Rad54b	UTSW	4	11615579	missense	probably damaging	0.99
R5796:Rad54b	UTSW	4	11615446	missense	probably benign	0.01
R5901:Rad54b	UTSW	4	11595919	missense	possibly damaging	0.84
R6185:Rad54b	UTSW	4	11593804	missense	possibly damaging	0.51
R6355:Rad54b	UTSW	4	11604989	missense	possibly damaging	0.52
R6576:Rad54b	UTSW	4	11601577	missense	probably benign
R6684:Rad54b	UTSW	4	11583689	unclassified	probably benign
R6821:Rad54b	UTSW	4	11612777	missense	probably damaging	1.00
R6947:Rad54b	UTSW	4	11569859	missense	possibly damaging	0.83
R7177:Rad54b	UTSW	4	11599755	missense	probably damaging	1.00
R7361:Rad54b	UTSW	4	11599782	missense	probably damaging	1.00
R7483:Rad54b	UTSW	4	11610372	missense	probably damaging	1.00
R7511:Rad54b	UTSW	4	11578956	splice site	probably null
R7847:Rad54b	UTSW	4	11612655	missense	probably damaging	1.00
R7908:Rad54b	UTSW	4	11595868	missense	probably null	0.01
R8198:Rad54b	UTSW	4	11612440	critical splice donor site	probably null
R9140:Rad54b	UTSW	4	11610386	missense	probably damaging	1.00
R9213:Rad54b	UTSW	4	11609321	nonsense	probably null

Posted On

2013-01-20