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

116094264-116123690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116110387 bp (GRCm38)

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: 97,379,830 (GRCm38)	K131E	probably benign	Het
Ank3	T	A	10: 69,987,226 (GRCm38)	L575*	probably null	Het
Aqr	T	C	2: 114,126,961 (GRCm38)	T819A	probably damaging	Het
Bbs2	A	T	8: 94,081,031 (GRCm38)	S407T	probably benign	Het
Bmper	T	A	9: 23,375,593 (GRCm38)	C272S	probably benign	Het
Btbd9	C	T	17: 30,334,218 (GRCm38)		probably null	Het
C5ar1	A	G	7: 16,248,822 (GRCm38)	V91A	possibly damaging	Het
Ccdc138	A	G	10: 58,575,757 (GRCm38)	H649R	possibly damaging	Het
Cfap43	A	T	19: 47,745,574 (GRCm38)	V1451E	probably benign	Het
Cfap46	T	A	7: 139,651,595 (GRCm38)	M901L	probably damaging	Het
Cherp	G	T	8: 72,461,535 (GRCm38)		probably benign	Het
D430041D05Rik	C	T	2: 104,248,285 (GRCm38)	V1229I	possibly damaging	Het
Fat4	A	C	3: 39,010,547 (GRCm38)	D4884A	probably damaging	Het
Fcrl5	T	C	3: 87,444,173 (GRCm38)	F243L	probably damaging	Het
Garem1	T	A	18: 21,129,430 (GRCm38)	I776F	probably benign	Het
Gpr87	T	A	3: 59,179,269 (GRCm38)	R272*	probably null	Het
Gsdmc	A	T	15: 63,780,116 (GRCm38)		probably null	Het
Hydin	T	A	8: 110,494,294 (GRCm38)	F1441I	possibly damaging	Het
Ints11	T	A	4: 155,872,912 (GRCm38)	C63*	probably null	Het
Kdm4b	A	T	17: 56,399,732 (GRCm38)	T908S	probably damaging	Het
Lipn	A	G	19: 34,081,300 (GRCm38)	D304G	probably damaging	Het
Man2a1	T	G	17: 64,675,122 (GRCm38)	N544K	probably benign	Het
Mapkapk5	G	T	5: 121,538,481 (GRCm38)	H66N	probably damaging	Het
Mog	G	A	17: 37,012,348 (GRCm38)	R233*	probably null	Het
Mrps24	A	T	11: 5,707,481 (GRCm38)		probably benign	Het
Nom1	T	C	5: 29,437,770 (GRCm38)	L423P	probably damaging	Het
Olfr65	T	A	7: 103,906,961 (GRCm38)	V174E	probably benign	Het
Pcdha1	T	A	18: 36,931,171 (GRCm38)	V296E	probably damaging	Het
Pdcd2	G	T	17: 15,526,395 (GRCm38)	H167Q	probably damaging	Het
Pdcd2	T	C	17: 15,526,394 (GRCm38)	K168E	possibly damaging	Het
Pla2g12b	T	A	10: 59,403,958 (GRCm38)	V63D	probably damaging	Het
Pnn	C	T	12: 59,067,831 (GRCm38)	R56*	probably null	Het
Primpol	T	A	8: 46,593,580 (GRCm38)	E227V	possibly damaging	Het
Rims2	A	T	15: 39,437,182 (GRCm38)	D103V	probably damaging	Het
Rttn	T	C	18: 89,073,695 (GRCm38)	S1511P	probably benign	Het
Sept5	T	C	16: 18,624,212 (GRCm38)		probably null	Het
Simc1	T	A	13: 54,525,819 (GRCm38)	I660K	possibly damaging	Het
Slc15a5	A	G	6: 138,079,693 (GRCm38)	L75P	probably damaging	Het
Slc9a2	A	G	1: 40,682,036 (GRCm38)	S55G	possibly damaging	Het
Slit3	C	T	11: 35,700,236 (GRCm38)	R1292C	probably damaging	Het
Slitrk3	A	G	3: 73,050,713 (GRCm38)	V242A	probably benign	Het
St14	A	T	9: 31,106,557 (GRCm38)		probably benign	Het
Tnnt2	T	C	1: 135,843,862 (GRCm38)		probably benign	Het
Traf5	G	A	1: 192,000,016 (GRCm38)	T288I	probably benign	Het
Trerf1	C	T	17: 47,314,337 (GRCm38)		noncoding transcript	Het
Vegfc	A	G	8: 54,181,284 (GRCm38)	N333D	probably benign	Het
Vmn1r65	T	A	7: 6,008,609 (GRCm38)	I209F	probably damaging	Het
Vps51	A	G	19: 6,068,290 (GRCm38)	L725P	probably damaging	Het
Vps8	T	C	16: 21,470,121 (GRCm38)	I408T	possibly damaging	Het
Wdr72	T	C	9: 74,145,028 (GRCm38)	Y114H	probably damaging	Het
Ybx2	A	G	11: 69,941,092 (GRCm38)	E164G	probably damaging	Het
Zcchc14	A	T	8: 121,628,623 (GRCm38)		probably benign	Het
Zfp383	A	G	7: 29,915,678 (GRCm38)	T453A	possibly damaging	Het
Zfp84	G	T	7: 29,776,953 (GRCm38)	G357C	probably damaging	Het
Zmynd11	G	T	13: 9,695,895 (GRCm38)		probably benign	Het

Other mutations in Rad54l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Rad54l	APN	4	116,105,877 (GRCm38)	missense	probably damaging	1.00
IGL01569:Rad54l	APN	4	116,098,998 (GRCm38)	missense	probably damaging	1.00
IGL02120:Rad54l	APN	4	116,098,984 (GRCm38)	missense	probably benign	0.44
IGL02587:Rad54l	APN	4	116,105,797 (GRCm38)	missense	probably damaging	1.00
IGL02728:Rad54l	APN	4	116,122,949 (GRCm38)	missense	probably benign	0.00
IGL03114:Rad54l	APN	4	116,098,532 (GRCm38)	missense	probably damaging	1.00
R0690:Rad54l	UTSW	4	116,099,750 (GRCm38)	splice site	probably benign
R1179:Rad54l	UTSW	4	116,111,320 (GRCm38)	missense	probably benign	0.14
R1956:Rad54l	UTSW	4	116,110,357 (GRCm38)	missense	probably damaging	0.99
R2875:Rad54l	UTSW	4	116,101,853 (GRCm38)	missense	probably benign	0.00
R2936:Rad54l	UTSW	4	116,122,879 (GRCm38)	intron	probably benign
R4237:Rad54l	UTSW	4	116,099,449 (GRCm38)	missense	probably damaging	1.00
R4344:Rad54l	UTSW	4	116,097,354 (GRCm38)	missense	probably damaging	1.00
R4801:Rad54l	UTSW	4	116,122,924 (GRCm38)	missense	probably null	0.12
R4802:Rad54l	UTSW	4	116,122,924 (GRCm38)	missense	probably null	0.12
R5106:Rad54l	UTSW	4	116,099,764 (GRCm38)	intron	probably benign
R5644:Rad54l	UTSW	4	116,098,947 (GRCm38)	missense	probably benign
R5684:Rad54l	UTSW	4	116,100,563 (GRCm38)	missense	probably damaging	1.00
R5883:Rad54l	UTSW	4	116,099,046 (GRCm38)	intron	probably benign
R6035:Rad54l	UTSW	4	116,097,469 (GRCm38)	missense	probably damaging	1.00
R6035:Rad54l	UTSW	4	116,097,469 (GRCm38)	missense	probably damaging	1.00
R6369:Rad54l	UTSW	4	116,111,189 (GRCm38)	critical splice donor site	probably null
R6863:Rad54l	UTSW	4	116,099,669 (GRCm38)	missense	probably damaging	1.00
R7135:Rad54l	UTSW	4	116,105,830 (GRCm38)	missense	probably damaging	1.00
R7318:Rad54l	UTSW	4	116,110,709 (GRCm38)	missense	possibly damaging	0.91
R7767:Rad54l	UTSW	4	116,099,669 (GRCm38)	missense	probably damaging	1.00
R8707:Rad54l	UTSW	4	116,097,336 (GRCm38)	missense	probably benign	0.00
R9156:Rad54l	UTSW	4	116,123,152 (GRCm38)	splice site	probably benign
R9207:Rad54l	UTSW	4	116,110,018 (GRCm38)	missense	probably damaging	1.00
R9274:Rad54l	UTSW	4	116,110,470 (GRCm38)	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