Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Rad54b'

212819

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11558930-11615806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 11601693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 416 (N416T)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

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

AlphaFold

Q6PFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: N416T

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

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: N416T

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

probably benign
Transcript: ENSMUST00000178725

Meta Mutation Damage Score

0.8954

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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 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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,773,031 (GRCm39)	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 35,817,414 (GRCm39)	V105F	possibly damaging	Het
Actr10	A	G	12: 70,989,104 (GRCm39)	I74M	probably benign	Het
Aen	T	C	7: 78,555,660 (GRCm39)	Y108H	probably damaging	Het
Afm	A	T	5: 90,672,779 (GRCm39)	K205*	probably null	Het
Ankrd27	T	A	7: 35,332,410 (GRCm39)	S846T	probably benign	Het
Ano3	A	G	2: 110,715,352 (GRCm39)	S29P	probably benign	Het
Apaf1	C	T	10: 90,913,476 (GRCm39)	W138*	probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgef4	A	G	1: 34,850,221 (GRCm39)	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,337,541 (GRCm39)	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,092,340 (GRCm39)	T70I	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Bltp1	A	G	3: 37,061,132 (GRCm39)		probably null	Het
Bspry	T	A	4: 62,413,034 (GRCm39)	C256S	probably damaging	Het
C3	C	A	17: 57,527,135 (GRCm39)	W771C	probably damaging	Het
Camkv	A	G	9: 107,824,287 (GRCm39)	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,942,548 (GRCm39)	V109E	probably damaging	Het
Cd101	A	G	3: 100,926,233 (GRCm39)	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,283,603 (GRCm39)	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,516,457 (GRCm39)	Q380E	probably benign	Het
Col6a3	T	C	1: 90,750,081 (GRCm39)	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 104,918,594 (GRCm39)	V82A	possibly damaging	Het
Cux1	G	A	5: 136,392,173 (GRCm39)	Q194*	probably null	Het
Daam2	T	C	17: 49,792,485 (GRCm39)	E361G	probably benign	Het
Dcaf17	A	T	2: 70,908,516 (GRCm39)		probably null	Het
Dnai1	T	C	4: 41,570,020 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993 (GRCm39)	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969 (GRCm39)	M988T	possibly damaging	Het
Fancm	T	C	12: 65,152,294 (GRCm39)	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Gm3604	G	T	13: 62,517,756 (GRCm39)	H201N	probably benign	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpatch8	A	G	11: 102,398,968 (GRCm39)		probably null	Het
H2-M3	T	C	17: 37,582,080 (GRCm39)	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,781,385 (GRCm39)	S62R	probably damaging	Het
Hipk2	G	A	6: 38,795,919 (GRCm39)	R117*	probably null	Het
Hrg	A	T	16: 22,773,207 (GRCm39)	Q113H	probably damaging	Het
Kcnj16	T	C	11: 110,915,779 (GRCm39)	V147A	possibly damaging	Het
Kif1a	T	C	1: 92,946,753 (GRCm39)	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,731,642 (GRCm39)		probably benign	Het
Krt90	A	T	15: 101,465,665 (GRCm39)	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,476,671 (GRCm39)	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,618,741 (GRCm39)	T225K	probably benign	Het
Map1a	C	T	2: 121,137,493 (GRCm39)	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,119,600 (GRCm39)	D193G	probably benign	Het
Mpped2	T	A	2: 106,697,377 (GRCm39)	I284N	probably damaging	Het
Msh6	A	G	17: 88,292,553 (GRCm39)	H436R	probably benign	Het
Mterf3	A	T	13: 67,078,126 (GRCm39)	S48T	probably damaging	Het
Muc5b	T	C	7: 141,399,768 (GRCm39)	F414L	unknown	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nherf4	T	C	9: 44,161,600 (GRCm39)	D93G	possibly damaging	Het
Nploc4	A	G	11: 120,295,055 (GRCm39)	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578 (GRCm39)	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,404,452 (GRCm39)	T397A	probably benign	Het
Ntsr2	A	T	12: 16,704,111 (GRCm39)	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,963,523 (GRCm39)	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,843,618 (GRCm39)	V105A	possibly damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Parp3	T	A	9: 106,352,316 (GRCm39)	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,861,474 (GRCm39)	S936P	probably damaging	Het
Phkb	A	G	8: 86,648,790 (GRCm39)	E202G	probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Prss8	G	T	7: 127,529,030 (GRCm39)	L9I	probably benign	Het
Ptpn22	G	A	3: 103,784,054 (GRCm39)		probably null	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rb1	T	A	14: 73,450,430 (GRCm39)	K645*	probably null	Het
Robo2	C	T	16: 73,696,042 (GRCm39)	G1367D	probably benign	Het
Rp1	A	G	1: 4,422,894 (GRCm39)	V52A	probably damaging	Het
Samd13	T	C	3: 146,368,467 (GRCm39)	T23A	probably benign	Het
Scn7a	T	C	2: 66,530,317 (GRCm39)	H676R	probably damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Slc2a8	T	C	2: 32,870,091 (GRCm39)	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,937,196 (GRCm39)	R88L	probably damaging	Het
Slc8a2	A	G	7: 15,886,845 (GRCm39)	I657V	probably benign	Het
Slit2	C	A	5: 48,348,358 (GRCm39)		probably benign	Het
Spire2	A	G	8: 124,089,810 (GRCm39)	D447G	probably benign	Het
Sptlc3	A	G	2: 139,408,595 (GRCm39)	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,363 (GRCm39)	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,465,353 (GRCm39)	T334I	probably damaging	Het
Syt5	G	T	7: 4,543,278 (GRCm39)	T327N	probably damaging	Het
Tcof1	T	C	18: 60,949,156 (GRCm39)	D1253G	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Tnks	A	T	8: 35,342,386 (GRCm39)	V388D	probably damaging	Het
Ugt2b1	T	C	5: 87,073,859 (GRCm39)	T167A	probably benign	Het
Usp40	G	A	1: 87,923,564 (GRCm39)	R236C	possibly damaging	Het
Utrn	T	C	10: 12,331,224 (GRCm39)	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,689,969 (GRCm39)	S282P	possibly damaging	Het
Vps45	T	C	3: 95,953,752 (GRCm39)	E200G	probably benign	Het
Wnt7b	T	A	15: 85,443,281 (GRCm39)	I41F	probably damaging	Het
Zmym6	T	A	4: 126,997,207 (GRCm39)	N275K	probably damaging	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
P0033:Rad54b	UTSW	4	11,609,285 (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
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

Predicted Primers

PCR Primer
(F):5'- TGGTGGGCAAAATCCGTTG -3'
(R):5'- ATTCCTAACCAATGAACATGGGC -3'

Sequencing Primer
(F):5'- CAAAATCCGTTGCTTCGATTTGAG -3'
(R):5'- CCTAACCAATGAACATGGGCTTATTC -3'

Posted On

2014-07-14