Mutagenetix > Incidental Mutations

Incidental Mutation 'R2437:Rad54b'

249640

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

040398-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11558922-11615805 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11606272 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 560 (L560P)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: L560P

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

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: L560P

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

0.9280

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (75/75)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 147,946,618	*635W	probably null	Het
4921507P07Rik	T	A	6: 50,583,979	D212V	probably damaging	Het
4932438A13Rik	T	A	3: 36,958,685		probably null	Het
Anxa2	A	G	9: 69,489,764	Y317C	probably damaging	Het
Arhgef26	T	C	3: 62,432,581	S675P	probably damaging	Het
Camk2d	A	G	3: 126,834,628	N53S	probably damaging	Het
Carns1	A	T	19: 4,165,783	M800K	possibly damaging	Het
Ces1f	A	T	8: 93,270,139		probably null	Het
Chrne	T	A	11: 70,615,260	D426V	possibly damaging	Het
Cntfr	T	C	4: 41,671,035	T43A	probably damaging	Het
Cntn5	A	T	9: 10,048,753	C63*	probably null	Het
Col12a1	G	A	9: 79,692,219	T884I	probably damaging	Het
Dnah5	T	C	15: 28,307,391		probably null	Het
Dnajc2	A	T	5: 21,760,391	S537R	probably benign	Het
Dnajc25	T	C	4: 59,020,234	I100T	probably damaging	Het
Ephx1	C	A	1: 180,996,096	G149C	probably damaging	Het
Fam163b	G	T	2: 27,112,686	P100T	probably damaging	Het
Fgd5	A	T	6: 92,062,869	R1017*	probably null	Het
Fibin	A	T	2: 110,362,503	L98Q	probably damaging	Het
Fndc3b	A	T	3: 27,451,332	L929H	probably damaging	Het
Frem1	T	A	4: 83,000,173	S512C	probably damaging	Het
Gm4922	T	A	10: 18,784,081	M298L	probably benign	Het
Gstm2	G	A	3: 107,984,053		probably benign	Het
Gtf3c2	A	G	5: 31,159,698		probably null	Het
Ibtk	A	C	9: 85,708,125	L1026V	probably benign	Het
Il9	T	A	13: 56,481,871		probably benign	Het
Inpp4a	T	C	1: 37,392,956	S146P	probably damaging	Het
Kcnab1	G	T	3: 65,357,014		probably benign	Het
Lrrc29	A	G	8: 105,313,043		probably null	Het
Mgat4c	T	C	10: 102,388,575	S217P	probably damaging	Het
Mr1	T	C	1: 155,132,531	M233V	probably benign	Het
Ncoa2	G	A	1: 13,148,360	T1415I	probably damaging	Het
Oasl2	G	A	5: 114,911,296	D486N	probably benign	Het
Olfr1412	T	C	1: 92,588,966	I212T	possibly damaging	Het
Olfr342	A	T	2: 36,528,246	Y278F	probably damaging	Het
Olfr461	G	A	6: 40,544,922	T19I	probably benign	Het
Pcnx4	T	C	12: 72,541,813	F132L	probably damaging	Het
Pde5a	T	A	3: 122,843,053	L717Q	probably damaging	Het
Peli2	A	T	14: 48,227,932		probably benign	Het
Phf14	A	G	6: 11,962,658	S435G	probably damaging	Het
Plekhg1	T	A	10: 3,963,564	H1095Q	probably damaging	Het
Plekhh2	A	G	17: 84,586,479		probably null	Het
Plekho1	T	G	3: 95,992,185	N99H	probably damaging	Het
Plxnc1	T	A	10: 94,906,533	K457N	probably benign	Het
Ppp1r3a	T	C	6: 14,718,323	E864G	probably benign	Het
Prkab2	T	A	3: 97,667,399	L237Q	probably damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptger3	T	A	3: 157,567,570	C185S	probably damaging	Het
Ptprk	T	C	10: 28,354,713	Y267H	probably damaging	Het
Pum2	A	G	12: 8,744,654	I715V	probably benign	Het
R3hdm1	T	C	1: 128,186,836	V518A	probably damaging	Het
Rab3d	T	C	9: 21,915,851	I28V	probably damaging	Het
Rgs20	A	G	1: 5,070,147		probably null	Het
Sesn1	T	A	10: 41,905,319	L460H	probably damaging	Het
Slc39a14	A	G	14: 70,316,436		probably null	Het
Slco6c1	T	A	1: 97,062,476	H663L	probably benign	Het
Snx13	T	A	12: 35,082,927	C63S	probably benign	Het
Strip2	T	C	6: 29,941,941		probably null	Het
Syncrip	A	G	9: 88,479,567		probably benign	Het
Taf15	A	G	11: 83,504,753		probably benign	Het
Tbc1d8	T	C	1: 39,405,287		probably null	Het
Tgm4	T	A	9: 123,048,549	C205*	probably null	Het
Tmem212	A	T	3: 27,886,479	L63Q	possibly damaging	Het
Tmem63a	G	A	1: 180,962,489		probably null	Het
Trpm5	C	A	7: 143,082,561	V525L	probably benign	Het
Ttn	A	G	2: 76,706,827	L34919P	probably damaging	Het
Ttn	T	C	2: 76,864,275		probably benign	Het
Tuba4a	T	C	1: 75,217,425	I4V	possibly damaging	Het
Ubr4	A	G	4: 139,473,542	D4679G	possibly damaging	Het
Usp2	T	G	9: 44,092,148	V448G	probably damaging	Het
Usp3	A	G	9: 66,545,742		probably null	Het
Zfp341	T	A	2: 154,628,801	V246E	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
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
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
R7930:Rad54b	UTSW	4	11612655	missense	probably damaging	1.00
R7989:Rad54b	UTSW	4	11595868	missense	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- TCTGCTCCTTTCTCTATAGGAAGAG -3'
(R):5'- AAGGCTGGTGGTTCTACGAC -3'

Sequencing Primer
(F):5'- CTCACTGGACGTTTTATCCTTAGAAG -3'
(R):5'- TTCTACGACAGAACCACACGGG -3'

Posted On

2014-11-12