Mutagenetix > Incidental Mutation

Incidental Mutation 'R5963:Rad54l'

471866

Institutional Source

Beutler Lab

Gene Symbol

Rad54l

Ensembl Gene

ENSMUSG00000028702

Gene Name

RAD54 like (S. cerevisiae)

Synonyms

RAD54

MMRRC Submission

044148-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115951461-115980887 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115967584 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 233 (W233R)

Ref Sequence

ENSEMBL: ENSMUSP00000099766 (fasta)

Gene Model

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

AlphaFold

P70270

Predicted Effect

probably damaging
Transcript: ENSMUST00000102704
AA Change: W233R

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

SMART Domains

Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: W233R

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: W233R

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

SMART Domains

Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: W233R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152741

Meta Mutation Damage Score

0.9685

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

99% (68/69)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg8	A	G	7: 97,029,037 (GRCm39)	K131E	probably benign	Het
Ank3	T	A	10: 69,823,056 (GRCm39)	L575*	probably null	Het
Aqr	T	C	2: 113,957,442 (GRCm39)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,807,659 (GRCm39)	S407T	probably benign	Het
Bmper	T	A	9: 23,286,889 (GRCm39)	C272S	probably benign	Het
Btbd9	C	T	17: 30,553,192 (GRCm39)		probably null	Het
C5ar1	A	G	7: 15,982,747 (GRCm39)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,411,579 (GRCm39)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,734,013 (GRCm39)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,231,511 (GRCm39)	M901L	probably damaging	Het
Cherp	G	T	8: 73,215,379 (GRCm39)		probably benign	Het
D430041D05Rik	C	T	2: 104,078,630 (GRCm39)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,064,696 (GRCm39)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,351,480 (GRCm39)	F243L	probably damaging	Het
Garem1	T	A	18: 21,262,487 (GRCm39)	I776F	probably benign	Het
Gpr87	T	A	3: 59,086,690 (GRCm39)	R272*	probably null	Het
Gsdmc	A	T	15: 63,651,965 (GRCm39)		probably null	Het
Hydin	T	A	8: 111,220,926 (GRCm39)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,957,369 (GRCm39)	C63*	probably null	Het
Kdm4b	A	T	17: 56,706,732 (GRCm39)	T908S	probably damaging	Het
Lipn	A	G	19: 34,058,700 (GRCm39)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,982,117 (GRCm39)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,676,544 (GRCm39)	H66N	probably damaging	Het
Mog	G	A	17: 37,323,240 (GRCm39)	R233*	probably null	Het
Mrps24	A	T	11: 5,657,481 (GRCm39)		probably benign	Het
Nom1	T	C	5: 29,642,768 (GRCm39)	L423P	probably damaging	Het
Or51b6	T	A	7: 103,556,168 (GRCm39)	V174E	probably benign	Het
Pcdha1	T	A	18: 37,064,224 (GRCm39)	V296E	probably damaging	Het
Pdcd2	T	C	17: 15,746,656 (GRCm39)	K168E	possibly damaging	Het
Pdcd2	G	T	17: 15,746,657 (GRCm39)	H167Q	probably damaging	Het
Pla2g12b	T	A	10: 59,239,780 (GRCm39)	V63D	probably damaging	Het
Pnn	C	T	12: 59,114,617 (GRCm39)	R56*	probably null	Het
Primpol	T	A	8: 47,046,615 (GRCm39)	E227V	possibly damaging	Het
Rims2	A	T	15: 39,300,578 (GRCm39)	D103V	probably damaging	Het
Rttn	T	C	18: 89,091,819 (GRCm39)	S1511P	probably benign	Het
Septin5	T	C	16: 18,442,962 (GRCm39)		probably null	Het
Simc1	T	A	13: 54,673,632 (GRCm39)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,056,691 (GRCm39)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,721,196 (GRCm39)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,591,063 (GRCm39)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 72,958,046 (GRCm39)	V242A	probably benign	Het
St14	A	T	9: 31,017,853 (GRCm39)		probably benign	Het
Tnnt2	T	C	1: 135,771,600 (GRCm39)		probably benign	Het
Traf5	G	A	1: 191,731,977 (GRCm39)	T288I	probably benign	Het
Trerf1	C	T	17: 47,625,263 (GRCm39)		noncoding transcript	Het
Vegfc	A	G	8: 54,634,319 (GRCm39)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,011,608 (GRCm39)	I209F	probably damaging	Het
Vps51	A	G	19: 6,118,320 (GRCm39)	L725P	probably damaging	Het
Vps8	T	C	16: 21,288,871 (GRCm39)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,052,310 (GRCm39)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,831,918 (GRCm39)	E164G	probably damaging	Het
Zcchc14	A	T	8: 122,355,362 (GRCm39)		probably benign	Het
Zfp383	A	G	7: 29,615,103 (GRCm39)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,476,378 (GRCm39)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,745,931 (GRCm39)		probably benign	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
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
R6863:Rad54l	UTSW	4	115,956,866 (GRCm39)	missense	probably damaging	1.00
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'- TTCAGCTGTTTTCCAATGGC -3'
(R):5'- CTATGGGAGTGTGTCACCAG -3'

Sequencing Primer
(F):5'- AGCTGTTTTCCAATGGCAATTTC -3'
(R):5'- TCGAATTCCTGGAAGCCATG -3'

Posted On

2017-03-31