Mutagenetix > Incidental Mutation

Incidental Mutation 'R7483:Rad54b'

579895

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

045557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7483 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11558930-11615806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11610372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 663 (Y663C)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

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

AlphaFold

Q6PFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: Y663C

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

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: Y663C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	T	5: 121,794,075 (GRCm39)		probably null	Het
Ahnak	T	C	19: 8,982,186 (GRCm39)	S1157P	probably damaging	Het
Akap12	T	G	10: 4,303,967 (GRCm39)	V364G	probably benign	Het
Ankrd17	A	G	5: 90,447,855 (GRCm39)	S229P	probably benign	Het
Apof	A	T	10: 128,104,636 (GRCm39)	Y5F	probably benign	Het
Arhgap24	T	A	5: 102,989,174 (GRCm39)	M94K	probably benign	Het
Ash2l	G	T	8: 26,312,798 (GRCm39)	D479E	probably damaging	Het
Atp8a2	A	T	14: 60,245,824 (GRCm39)	C623S	probably benign	Het
Bmper	T	A	9: 23,395,238 (GRCm39)	N656K	probably benign	Het
Braf	T	C	6: 39,604,772 (GRCm39)	I619V	possibly damaging	Het
Brwd1	T	C	16: 95,857,373 (GRCm39)	R396G	probably damaging	Het
Car7	A	T	8: 105,276,216 (GRCm39)	T234S	probably benign	Het
Catsper4	A	T	4: 133,945,552 (GRCm39)	V169E	probably damaging	Het
Cemip	T	G	7: 83,647,784 (GRCm39)	I99L	probably damaging	Het
Chrna7	C	A	7: 62,754,738 (GRCm39)	V290L	probably damaging	Het
Clip1	A	T	5: 123,755,447 (GRCm39)	D944E	probably benign	Het
Cplane2	A	G	4: 140,947,153 (GRCm39)	D178G	probably damaging	Het
Cyp2c68	T	C	19: 39,677,581 (GRCm39)	T470A	probably benign	Het
Dmbx1	G	T	4: 115,780,908 (GRCm39)	A31D	probably damaging	Het
Dnah7b	T	C	1: 46,214,579 (GRCm39)	F1115L	probably damaging	Het
Dock10	T	C	1: 80,493,283 (GRCm39)	I1897V	probably benign	Het
Efcab3	A	G	11: 105,000,112 (GRCm39)	I234V	probably benign	Het
Eid2b	T	G	7: 27,977,243 (GRCm39)	L13R	probably damaging	Het
Enam	A	G	5: 88,649,679 (GRCm39)	Y396C	probably damaging	Het
Fam161a	A	T	11: 22,971,006 (GRCm39)	T395S	probably damaging	Het
Fat1	A	G	8: 45,476,197 (GRCm39)	R1748G	probably benign	Het
Fdxacb1	C	A	9: 50,681,451 (GRCm39)	T124K	possibly damaging	Het
Fer1l6	A	T	15: 58,513,794 (GRCm39)	D1563V	possibly damaging	Het
Gm20834	T	C	Y: 10,323,226 (GRCm39)	H70R	probably damaging	Het
Gucy2d	T	A	7: 98,098,964 (GRCm39)	M261K	probably damaging	Het
Hcar2	T	A	5: 124,002,861 (GRCm39)	Q214L	probably benign	Het
Hdac11	C	T	6: 91,136,214 (GRCm39)	H75Y	probably damaging	Het
Hoxa2	C	A	6: 52,141,279 (GRCm39)	A116S	probably benign	Het
Ints2	A	G	11: 86,106,444 (GRCm39)	C989R	probably damaging	Het
Jpt1	T	C	11: 115,393,950 (GRCm39)	E36G	probably damaging	Het
Kdm5d	G	A	Y: 914,044 (GRCm39)	R327Q	possibly damaging	Het
Klhl1	T	C	14: 96,584,304 (GRCm39)	M309V	probably benign	Het
Larp4	A	G	15: 99,889,659 (GRCm39)	K193E	probably benign	Het
Lmo3	C	T	6: 138,393,500 (GRCm39)	C40Y	probably damaging	Het
Mcm4	A	G	16: 15,448,306 (GRCm39)	V417A	probably benign	Het
Med8	A	G	4: 118,268,176 (GRCm39)	E34G	probably damaging	Het
Mex3b	G	T	7: 82,517,114 (GRCm39)	A86S	possibly damaging	Het
Muc6	T	C	7: 141,224,245 (GRCm39)	T1646A	unknown	Het
Myo15b	A	T	11: 115,749,570 (GRCm39)	E113D		Het
Myo7a	T	A	7: 97,712,881 (GRCm39)	H1698L	probably benign	Het
Myocos	T	A	1: 162,484,678 (GRCm39)	M44L	unknown	Het
Nalcn	A	G	14: 123,551,499 (GRCm39)	V1036A	probably damaging	Het
Nfrkb	C	T	9: 31,325,328 (GRCm39)	Q924*	probably null	Het
Nol6	A	G	4: 41,117,424 (GRCm39)	L923P	possibly damaging	Het
Nrxn3	T	C	12: 89,477,232 (GRCm39)	Y472H	probably damaging	Het
Nudcd1	A	G	15: 44,269,253 (GRCm39)	Y136H	possibly damaging	Het
Obox2	T	C	7: 15,131,241 (GRCm39)	C116R	probably damaging	Het
Onecut3	A	T	10: 80,331,310 (GRCm39)	S157C	unknown	Het
Or10ak11	A	G	4: 118,687,517 (GRCm39)	V39A	probably damaging	Het
Or11g27	T	A	14: 50,771,472 (GRCm39)	V201D	probably benign	Het
Or2d2b	T	A	7: 106,705,982 (GRCm39)	I29F	probably benign	Het
Or4f15	T	C	2: 111,814,124 (GRCm39)	I98M	probably damaging	Het
Oscp1	C	T	4: 125,967,726 (GRCm39)	R91*	probably null	Het
Pclo	A	T	5: 14,762,606 (GRCm39)	D408V		Het
Pde8a	T	C	7: 80,932,581 (GRCm39)	V81A	probably benign	Het
Pde8b	T	A	13: 95,164,251 (GRCm39)	D653V	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pik3cg	T	C	12: 32,245,647 (GRCm39)	Y867C	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Psd4	A	T	2: 24,294,768 (GRCm39)	D776V	possibly damaging	Het
Ptprb	A	G	10: 116,119,334 (GRCm39)	E156G	probably benign	Het
Ranbp3l	T	A	15: 9,030,955 (GRCm39)	V78D	possibly damaging	Het
Rbm12	T	C	2: 155,940,138 (GRCm39)	I45V	unknown	Het
Scn9a	A	G	2: 66,363,692 (GRCm39)	V862A	probably damaging	Het
Sdcbp	T	C	4: 6,393,089 (GRCm39)	I242T	possibly damaging	Het
Slc25a24	A	G	3: 109,066,751 (GRCm39)	T302A	probably damaging	Het
Slc45a3	G	T	1: 131,904,549 (GRCm39)		probably benign	Het
Srpk1	T	C	17: 28,813,192 (GRCm39)	I517M	probably benign	Het
Tmx4	A	G	2: 134,481,581 (GRCm39)	M114T	probably benign	Het
Trhr	T	A	15: 44,092,627 (GRCm39)	V288D	probably damaging	Het
Tspoap1	A	T	11: 87,652,351 (GRCm39)	I42F	probably benign	Het
Ttn	A	T	2: 76,781,856 (GRCm39)	D1063E	unknown	Het
Tusc3	A	G	8: 39,538,635 (GRCm39)	I225V	probably benign	Het
Ugt2b38	A	G	5: 87,571,973 (GRCm39)	S20P	probably damaging	Het
Upf2	A	G	2: 6,032,219 (GRCm39)	T922A	unknown	Het
Usp38	C	T	8: 81,741,190 (GRCm39)		probably benign	Het
Vmn1r216	A	G	13: 23,283,738 (GRCm39)	I140M	probably damaging	Het
Vmn2r115	T	A	17: 23,565,371 (GRCm39)	N419K	possibly damaging	Het
Vmn2r55	C	T	7: 12,404,755 (GRCm39)	G216D	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wnt7b	C	A	15: 85,421,615 (GRCm39)	R349L	possibly damaging	Het
Xbp1	T	C	11: 5,471,098 (GRCm39)	V35A	probably benign	Het
Zan	A	T	5: 137,445,057 (GRCm39)	M1734K	unknown	Het
Zfhx4	A	G	3: 5,477,237 (GRCm39)	E3284G	probably damaging	Het
Zfp458	A	G	13: 67,404,978 (GRCm39)	L487S	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het
Zp1	A	G	19: 10,895,280 (GRCm39)	L324P	possibly 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
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
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'- TTGTTCAATGCTGCCACTGTG -3'
(R):5'- TCTGGACGTTCATAGTGTCATC -3'

Sequencing Primer
(F):5'- CAATGCTGCCACTGTGATATCAGG -3'
(R):5'- CAGTAGCTGGGTTCCAATCGATATC -3'

Posted On

2019-10-07