Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Rad54l'

535736

Institutional Source

Beutler Lab

Gene Symbol

Rad54l

Ensembl Gene

ENSMUSG00000028702

Gene Name

RAD54 like (S. cerevisiae)

Synonyms

RAD54

MMRRC Submission

044963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6863 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115951461-115980887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115956866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 485 (Y485C)

Ref Sequence

ENSEMBL: ENSMUSP00000099766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030471] [ENSMUST00000102704] [ENSMUST00000102705]

AlphaFold

P70270

Predicted Effect

probably benign
Transcript: ENSMUST00000030471

SMART Domains

Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC
low complexity region	280	291	N/A	INTRINSIC
low complexity region	314	325	N/A	INTRINSIC
low complexity region	352	382	N/A	INTRINSIC
low complexity region	417	429	N/A	INTRINSIC
SCOP:d1yrga_	449	742	4e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102704
AA Change: Y485C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: Y485C

Domain	Start	End	E-Value	Type
DEXDc	149	357	1.66e-41	SMART
Blast:DEXDc	391	427	5e-13	BLAST
low complexity region	441	456	N/A	INTRINSIC
HELICc	527	611	1.39e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102705
AA Change: Y485C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: Y485C

Domain	Start	End	E-Value	Type
Pfam:Rad54_N	10	138	7.8e-9	PFAM
DEXDc	149	357	1.66e-41	SMART
Blast:DEXDc	391	427	5e-13	BLAST
low complexity region	441	456	N/A	INTRINSIC
HELICc	527	611	1.39e-20	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

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, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are sensitive to DNA crosslinking agents and to ionizing radiation and show abnormal definitive hematopoiesis following X-ray treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,277,627 (GRCm39)	Y278*	probably null	Het
Agap3	A	T	5: 24,657,461 (GRCm39)	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,657,462 (GRCm39)	Y86*	probably null	Het
Ahnak	T	C	19: 8,989,729 (GRCm39)		probably benign	Het
Arhgap45	G	T	10: 79,853,616 (GRCm39)	E43D	probably benign	Het
Cacna1d	A	C	14: 29,797,809 (GRCm39)	I1426S	probably damaging	Het
Calhm5	C	A	10: 33,968,451 (GRCm39)	A201S	probably benign	Het
Cdkn2a	T	C	4: 89,193,003 (GRCm39)	E159G	probably benign	Het
Cep85l	C	A	10: 53,225,214 (GRCm39)	W125L	probably damaging	Het
Ces1g	C	T	8: 94,043,647 (GRCm39)	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,584,929 (GRCm39)	A21V	possibly damaging	Het
Ctsc	T	A	7: 87,951,486 (GRCm39)	Y243*	probably null	Het
Ctu1	A	G	7: 43,326,046 (GRCm39)	E235G	probably damaging	Het
Degs2	T	C	12: 108,668,457 (GRCm39)	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,137,351 (GRCm39)	F235L	probably damaging	Het
Dpp8	T	C	9: 64,942,290 (GRCm39)	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,618,614 (GRCm39)	I3288T	probably benign	Het
Ebpl	A	T	14: 61,597,751 (GRCm39)	L30Q	probably damaging	Het
Eif1ad15	T	C	12: 88,287,968 (GRCm39)	Y95C	probably damaging	Het
Etaa1	T	A	11: 17,903,794 (GRCm39)	M1L	probably benign	Het
Etl4	A	G	2: 20,811,120 (GRCm39)	T1068A	probably benign	Het
Eya1	C	A	1: 14,341,199 (GRCm39)		probably null	Het
Fat1	G	T	8: 45,497,501 (GRCm39)	V4329L	probably damaging	Het
Fras1	A	T	5: 96,691,165 (GRCm39)	Q127L	probably benign	Het
Gm1110	T	G	9: 26,792,360 (GRCm39)	Y590S	probably damaging	Het
Gm14410	G	A	2: 176,885,860 (GRCm39)	Q135*	probably null	Het
Greb1	A	T	12: 16,734,421 (GRCm39)	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,182,854 (GRCm39)	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,618,029 (GRCm39)	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif17	T	A	4: 137,997,195 (GRCm39)	Y139*	probably null	Het
Klhl2	A	T	8: 65,275,743 (GRCm39)	N53K	probably benign	Het
Lrit2	G	T	14: 36,793,901 (GRCm39)	G322C	probably damaging	Het
Macir	T	C	1: 97,574,030 (GRCm39)	T12A	probably benign	Het
Matcap1	T	C	8: 106,012,435 (GRCm39)	D4G	probably damaging	Het
Mgam	A	T	6: 40,705,943 (GRCm39)	Q4L	probably benign	Het
Mst1r	A	G	9: 107,797,225 (GRCm39)	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mydgf	C	A	17: 56,490,789 (GRCm39)	V35L	probably damaging	Het
Nmt2	T	A	2: 3,306,341 (GRCm39)		probably null	Het
Or10s1	A	G	9: 39,986,110 (GRCm39)	Y173C	probably damaging	Het
Or52ad1	C	T	7: 102,996,123 (GRCm39)	C4Y	possibly damaging	Het
Pik3r2	T	C	8: 71,223,058 (GRCm39)	Y454C	probably damaging	Het
Rapgef6	T	A	11: 54,437,206 (GRCm39)	S50T	probably benign	Het
Scaf11	T	C	15: 96,317,300 (GRCm39)	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163 (GRCm39)	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,264,001 (GRCm39)	K239E	probably damaging	Het
Slc44a4	T	A	17: 35,142,798 (GRCm39)	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,684,107 (GRCm39)	Y288*	probably null	Het
Sptbn1	T	C	11: 30,096,777 (GRCm39)	M267V	possibly damaging	Het
Taok2	C	T	7: 126,471,109 (GRCm39)	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,397,030 (GRCm39)	I819F	probably damaging	Het
Themis2	A	T	4: 132,516,907 (GRCm39)	W198R	probably damaging	Het
Timd4	C	G	11: 46,706,270 (GRCm39)	S24*	probably null	Het
Tnrc18	T	C	5: 142,800,952 (GRCm39)	D2G	probably damaging	Het
Wdr35	A	G	12: 9,040,047 (GRCm39)	D384G	probably damaging	Het
Zfp560	C	A	9: 20,259,795 (GRCm39)	V356F	probably damaging	Het

Other mutations in Rad54l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Rad54l	APN	4	115,963,074 (GRCm39)	missense	probably damaging	1.00
IGL01569:Rad54l	APN	4	115,956,195 (GRCm39)	missense	probably damaging	1.00
IGL02120:Rad54l	APN	4	115,956,181 (GRCm39)	missense	probably benign	0.44
IGL02587:Rad54l	APN	4	115,962,994 (GRCm39)	missense	probably damaging	1.00
IGL02728:Rad54l	APN	4	115,980,146 (GRCm39)	missense	probably benign	0.00
IGL03114:Rad54l	APN	4	115,955,729 (GRCm39)	missense	probably damaging	1.00
R0690:Rad54l	UTSW	4	115,956,947 (GRCm39)	splice site	probably benign
R1179:Rad54l	UTSW	4	115,968,517 (GRCm39)	missense	probably benign	0.14
R1956:Rad54l	UTSW	4	115,967,554 (GRCm39)	missense	probably damaging	0.99
R2875:Rad54l	UTSW	4	115,959,050 (GRCm39)	missense	probably benign	0.00
R2936:Rad54l	UTSW	4	115,980,076 (GRCm39)	intron	probably benign
R4237:Rad54l	UTSW	4	115,956,646 (GRCm39)	missense	probably damaging	1.00
R4344:Rad54l	UTSW	4	115,954,551 (GRCm39)	missense	probably damaging	1.00
R4801:Rad54l	UTSW	4	115,980,121 (GRCm39)	missense	probably null	0.12
R4802:Rad54l	UTSW	4	115,980,121 (GRCm39)	missense	probably null	0.12
R5106:Rad54l	UTSW	4	115,956,961 (GRCm39)	intron	probably benign
R5644:Rad54l	UTSW	4	115,956,144 (GRCm39)	missense	probably benign
R5684:Rad54l	UTSW	4	115,957,760 (GRCm39)	missense	probably damaging	1.00
R5883:Rad54l	UTSW	4	115,956,243 (GRCm39)	intron	probably benign
R5963:Rad54l	UTSW	4	115,967,584 (GRCm39)	missense	probably damaging	1.00
R6035:Rad54l	UTSW	4	115,954,666 (GRCm39)	missense	probably damaging	1.00
R6035:Rad54l	UTSW	4	115,954,666 (GRCm39)	missense	probably damaging	1.00
R6369:Rad54l	UTSW	4	115,968,386 (GRCm39)	critical splice donor site	probably null
R7135:Rad54l	UTSW	4	115,963,027 (GRCm39)	missense	probably damaging	1.00
R7318:Rad54l	UTSW	4	115,967,906 (GRCm39)	missense	possibly damaging	0.91
R7767:Rad54l	UTSW	4	115,956,866 (GRCm39)	missense	probably damaging	1.00
R8707:Rad54l	UTSW	4	115,954,533 (GRCm39)	missense	probably benign	0.00
R9156:Rad54l	UTSW	4	115,980,349 (GRCm39)	splice site	probably benign
R9207:Rad54l	UTSW	4	115,967,215 (GRCm39)	missense	probably damaging	1.00
R9274:Rad54l	UTSW	4	115,967,667 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGGACCAGCATCTTACCTG -3'
(R):5'- AAGCTTCAGACAATCAAAGGTGC -3'

Sequencing Primer
(F):5'- GGGAAAAGTGGCTATTATCAGTCCTC -3'
(R):5'- CAAAGGTGCTAGCATTTTCCTATGG -3'

Posted On

2018-10-18