Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Rad54b'

537611

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11558922-11615805 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11612777 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 803 (D803G)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

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

AlphaFold

Q6PFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: D803G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: D803G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Igsf9	T	C	1: 172,484,493	I2T	probably benign	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970	Q343*	probably null	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	probably damaging	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
R0076:Rad54b	UTSW	4	11609480	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
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

Predicted Primers

PCR Primer
(F):5'- GCTTCAACATCTGAACATCTGGAATG -3'
(R):5'- AGTACTTGCCCTACAACCCGAG -3'

Sequencing Primer
(F):5'- AGAAAATCTAATGGGTGTTTTCTCC -3'
(R):5'- GGAACAAAGAGAACTAACACGTGC -3'

Posted On

2018-10-18