Mutagenetix > Incidental Mutation

Incidental Mutation 'R4801:Rad54l'

370375

Institutional Source

Beutler Lab

Gene Symbol

Rad54l

Ensembl Gene

ENSMUSG00000028702

Gene Name

RAD54 like (S. cerevisiae)

Synonyms

RAD54

MMRRC Submission

042423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4801 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116094264-116123690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116122924 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 21 (D21G)

Ref Sequence

ENSEMBL: ENSMUSP00000099766 (fasta)

Gene Model

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

AlphaFold

P70270

Predicted Effect

probably null
Transcript: ENSMUST00000102704
AA Change: D21G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: D21G

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 null
Transcript: ENSMUST00000102705
AA Change: D21G

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: D21G

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: ENSMUST00000143089

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144311

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152741

Meta Mutation Damage Score

0.6847

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 164 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,983,926		probably null	Het
Aadacl3	A	G	4: 144,456,232	I222T	probably damaging	Het
Abca13	G	T	11: 9,522,341	G4249V	possibly damaging	Het
Abcb10	A	G	8: 123,966,527	V346A	probably benign	Het
Abcc2	A	T	19: 43,819,361	I814F	probably damaging	Het
AF366264	T	A	8: 13,836,970	I374F	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd28	A	C	14: 31,736,830	D335E	probably damaging	Het
Ankrd44	T	C	1: 54,762,316	H284R	probably damaging	Het
Arfgef3	G	T	10: 18,591,906	Q1849K	probably benign	Het
Atp2c2	T	C	8: 119,747,687	M490T	probably damaging	Het
Bach1	T	A	16: 87,722,452	D543E	probably damaging	Het
Bahcc1	G	A	11: 120,282,225	V1558I	probably benign	Het
Bbs5	T	A	2: 69,655,614	W168R	probably damaging	Het
Bcar3	A	T	3: 122,529,594	D766V	probably benign	Het
C1ra	A	G	6: 124,513,768	D40G	probably benign	Het
Ccdc138	G	A	10: 58,573,643	C598Y	probably damaging	Het
Cd200r3	T	A	16: 44,957,825	N197K	possibly damaging	Het
Cenpf	T	A	1: 189,651,220	E2634D	probably damaging	Het
Cisd2	T	C	3: 135,411,141	K63R	probably damaging	Het
Clca3a2	A	T	3: 144,807,351	S478T	possibly damaging	Het
Clptm1l	T	C	13: 73,607,862	M199T	possibly damaging	Het
Cntnap4	T	A	8: 112,773,590	S505T	possibly damaging	Het
Cr2	C	T	1: 195,163,311	G112D	probably damaging	Het
Crb2	T	A	2: 37,793,756	I1090N	probably benign	Het
Csmd3	G	T	15: 47,621,292	P3057Q	probably damaging	Het
Ctso	G	A	3: 81,954,240	V307I	probably damaging	Het
Cyp3a41b	T	A	5: 145,573,651	T138S	probably benign	Het
Dctn3	G	T	4: 41,719,904	Y67*	probably null	Het
Dennd4c	C	A	4: 86,819,884	Y918*	probably null	Het
Dlg5	C	T	14: 24,154,689	G1262D	probably damaging	Het
Dnaaf1	G	A	8: 119,577,361	G46D	probably benign	Het
Dnah6	A	G	6: 73,089,698	V2563A	probably damaging	Het
Dnajc13	A	G	9: 104,175,727	Y1679H	probably benign	Het
Eif2ak3	T	C	6: 70,887,893	Y578H	probably benign	Het
Endod1	C	T	9: 14,357,023	V389M	probably benign	Het
Ephb4	T	C	5: 137,365,506	L582P	probably damaging	Het
Eps15	T	C	4: 109,324,217	L316S	possibly damaging	Het
Erbb4	G	T	1: 68,330,246	T412K	probably damaging	Het
Fam117a	T	A	11: 95,364,070	F90I	probably damaging	Het
Fam187b	T	G	7: 30,977,090	V8G	possibly damaging	Het
Fam84b	C	A	15: 60,823,944		probably benign	Het
Far1	T	A	7: 113,539,453	I59N	possibly damaging	Het
Fbxo34	T	A	14: 47,530,869	L562Q	probably damaging	Het
Frem1	T	A	4: 82,916,628		probably benign	Het
Gfra3	G	T	18: 34,720,192	P10Q	probably damaging	Het
Gm10698	A	G	9: 33,728,772		noncoding transcript	Het
Gm11487	C	T	4: 73,401,267	W80*	probably null	Het
Gm19965	T	A	1: 116,821,896	Y436N	probably benign	Het
Gm21818	T	A	13: 120,173,222	S13R	probably benign	Het
Gm5767	A	G	16: 8,683,345	T22A	unknown	Het
Gm5799	A	T	14: 43,544,548	H59L	probably damaging	Het
Gmppb	T	A	9: 108,050,217	V121E	probably benign	Het
Ighv7-4	G	C	12: 114,223,279		probably benign	Het
Ipo4	A	G	14: 55,631,214	S446P	probably damaging	Het
Itpr2	T	C	6: 146,371,331	T855A	probably damaging	Het
Jaml	T	C	9: 45,101,064	I283T	possibly damaging	Het
Kcnn2	T	C	18: 45,685,267		probably benign	Het
Klhl32	T	C	4: 24,649,698	Y399C	possibly damaging	Het
Lrriq1	G	A	10: 103,221,318	T207I	probably benign	Het
Lrriq3	A	T	3: 155,187,970	H436L	probably benign	Het
Mad2l1bp	T	C	17: 46,148,263	K114E	possibly damaging	Het
Mamstr	T	C	7: 45,642,418	V64A	possibly damaging	Het
Map4	T	A	9: 110,035,257	S517T	probably benign	Het
Matn1	A	T	4: 130,950,025	I182F	possibly damaging	Het
Mcm3	A	G	1: 20,810,156	I484T	probably damaging	Het
Med13	T	A	11: 86,278,773	I1922F	probably damaging	Het
Metap2	A	G	10: 93,868,895	V137A	probably damaging	Het
Mex3d	A	G	10: 80,386,954	V156A	possibly damaging	Het
Mfsd6	G	A	1: 52,709,596	P37S	probably benign	Het
Mkl1	T	C	15: 81,104,799	E7G	probably benign	Het
Mrgprx1	A	C	7: 48,021,211	S263A	possibly damaging	Het
Msl1	C	T	11: 98,803,969	R505*	probably null	Het
Mta2	T	C	19: 8,945,851	S96P	probably damaging	Het
Mtr	A	T	13: 12,195,251	N986K	probably benign	Het
Mut	A	G	17: 40,937,351	T90A	probably benign	Het
Mutyh	C	T	4: 116,817,029	T259I	probably benign	Het
Myof	T	C	19: 37,945,738	T908A	probably benign	Het
Nav2	A	T	7: 49,545,852	D992V	possibly damaging	Het
Neb	T	C	2: 52,200,703	T1352A	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Nudt6	G	A	3: 37,405,354	R161C	probably benign	Het
Olfr1122	T	A	2: 87,388,209	V168E	probably benign	Het
Olfr1173	T	A	2: 88,274,879	M57L	probably damaging	Het
Olfr125	T	C	17: 37,835,349	Y117H	probably damaging	Het
Olfr1276	T	A	2: 111,257,152	F12L	probably damaging	Het
Olfr1411	T	A	1: 92,596,998	C160S	probably benign	Het
Olfr154	T	A	2: 85,664,278	D52V	probably damaging	Het
Olfr23	T	A	11: 73,940,870	I208K	possibly damaging	Het
Olfr319	T	C	11: 58,701,791	V30A	probably benign	Het
Olfr456	A	T	6: 42,486,679	N171K	probably benign	Het
Olfr744	A	G	14: 50,619,022	T267A	probably benign	Het
Olfr959	T	G	9: 39,572,858	M134L	probably benign	Het
Olr1	A	G	6: 129,488,090	F141S	possibly damaging	Het
Oprl1	G	T	2: 181,719,253	M340I	probably benign	Het
Otogl	A	C	10: 107,901,336	C72W	probably damaging	Het
Pcdha11	T	A	18: 37,005,465	I49N	probably damaging	Het
Pcdha4	T	A	18: 36,953,955	L397*	probably null	Het
Pcdhb14	A	G	18: 37,448,278	S146G	probably benign	Het
Pclo	T	A	5: 14,675,815	H1562Q	unknown	Het
Pcsk9	T	C	4: 106,447,569	E434G	probably benign	Het
Phc2	A	G	4: 128,751,598	K833E	probably damaging	Het
Pja2	A	T	17: 64,292,862	S480R	probably damaging	Het
Pkd1	G	A	17: 24,578,096	G2493D	probably damaging	Het
Plk5	G	A	10: 80,359,304	V179M	possibly damaging	Het
Polr1a	G	A	6: 71,976,070	V1541I	probably benign	Het
Ppard	C	G	17: 28,286,374	R12G	unknown	Het
Ppp1r14a	A	G	7: 29,291,526	D73G	probably damaging	Het
Psd3	C	T	8: 68,121,148	R127H	probably benign	Het
Pten	G	T	19: 32,758,503	G20V	possibly damaging	Het
Ptprg	T	C	14: 11,554,233		probably benign	Het
Rgs14	T	C	13: 55,380,957	Y304H	probably damaging	Het
Rgs9	T	C	11: 109,240,868	K346R	probably damaging	Het
Rnf169	C	G	7: 99,926,446	G314A	probably damaging	Het
Rpgrip1l	T	A	8: 91,270,177	T692S	probably damaging	Het
Rtf1	T	C	2: 119,675,228	V54A	possibly damaging	Het
Rtn4	T	C	11: 29,708,660	V938A	probably benign	Het
Ryr2	T	A	13: 11,687,932	D2890V	probably damaging	Het
Ryr2	T	C	13: 11,708,227	T2509A	probably damaging	Het
Scel	A	C	14: 103,583,100	T348P	probably benign	Het
Scgb1b2	G	T	7: 31,291,573	L37I	possibly damaging	Het
Sdf4	A	G	4: 156,000,721	H171R	possibly damaging	Het
Sec31a	A	G	5: 100,393,363	V295A	probably damaging	Het
Setx	T	A	2: 29,146,373	S957T	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Six5	A	G	7: 19,096,969	N507S	probably benign	Het
Slc12a7	T	C	13: 73,763,892		probably null	Het
Slc1a7	T	A	4: 107,993,040	V116E	probably damaging	Het
Slc22a1	A	G	17: 12,675,535	L42P	probably damaging	Het
Slc25a31	A	T	3: 40,721,545	I174F	probably damaging	Het
Slc31a2	A	T	4: 62,292,632	M3L	probably damaging	Het
Slco1a4	T	A	6: 141,845,497		probably benign	Het
Smcr8	C	T	11: 60,778,610		probably null	Het
Smg5	G	T	3: 88,355,692	E801*	probably null	Het
Smgc	C	A	15: 91,854,616	H492Q	probably benign	Het
Smyd4	G	T	11: 75,403,184	G694V	probably damaging	Het
Sorcs3	A	G	19: 48,398,744	T223A	possibly damaging	Het
Stab1	G	T	14: 31,141,371	C2119*	probably null	Het
Taar9	A	G	10: 24,108,843	I231T	probably damaging	Het
Tacr2	A	G	10: 62,261,548	Y269C	probably damaging	Het
Taf3	T	G	2: 9,951,123	K744N	possibly damaging	Het
Tenm4	T	A	7: 96,906,245	V2682E	probably damaging	Het
Tet1	A	C	10: 62,822,663	L1468R	probably damaging	Het
Tgds	T	C	14: 118,117,033		probably benign	Het
Tgfb2	A	T	1: 186,628,913	Y380*	probably null	Het
Tgm5	T	G	2: 121,052,472	K435Q	probably damaging	Het
Themis	A	G	10: 28,761,511	T204A	probably benign	Het
Tm4sf1	T	C	3: 57,294,679	Y37C	probably damaging	Het
Tnn	T	C	1: 160,145,033	N333S	possibly damaging	Het
Tppp2	A	G	14: 51,919,348	N61D	probably benign	Het
Treml2	A	G	17: 48,309,159	T276A	probably benign	Het
Trit1	T	C	4: 123,016,638	V10A	probably benign	Het
Uba1y	T	G	Y: 825,890		probably null	Het
Uqcc1	T	C	2: 155,858,106		probably benign	Het
Vcam1	C	G	3: 116,115,935	G581A	probably damaging	Het
Vmn1r16	G	A	6: 57,323,190	T149I	probably benign	Het
Vmn1r209	T	C	13: 22,805,656	D288G	probably damaging	Het
Vmn1r78	T	A	7: 12,152,964	Y167*	probably null	Het
Vmn2r103	T	A	17: 19,795,076	S493T	probably benign	Het
Vmn2r105	T	A	17: 20,227,294	M423L	probably benign	Het
Vps13c	T	C	9: 67,964,282	F3244L	probably damaging	Het
Zfp119b	A	T	17: 55,939,642	D149E	probably damaging	Het
Zfp345	T	C	2: 150,473,308	Y103C	possibly damaging	Het
Zmym6	C	T	4: 127,123,216	T930I	probably benign	Het

Other mutations in Rad54l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01409:Rad54l	APN	4	116105877	missense	probably damaging	1.00
IGL01569:Rad54l	APN	4	116098998	missense	probably damaging	1.00
IGL02120:Rad54l	APN	4	116098984	missense	probably benign	0.44
IGL02587:Rad54l	APN	4	116105797	missense	probably damaging	1.00
IGL02728:Rad54l	APN	4	116122949	missense	probably benign	0.00
IGL03114:Rad54l	APN	4	116098532	missense	probably damaging	1.00
R0690:Rad54l	UTSW	4	116099750	splice site	probably benign
R1179:Rad54l	UTSW	4	116111320	missense	probably benign	0.14
R1956:Rad54l	UTSW	4	116110357	missense	probably damaging	0.99
R2875:Rad54l	UTSW	4	116101853	missense	probably benign	0.00
R2936:Rad54l	UTSW	4	116122879	intron	probably benign
R4237:Rad54l	UTSW	4	116099449	missense	probably damaging	1.00
R4344:Rad54l	UTSW	4	116097354	missense	probably damaging	1.00
R4802:Rad54l	UTSW	4	116122924	missense	probably null	0.12
R5106:Rad54l	UTSW	4	116099764	intron	probably benign
R5644:Rad54l	UTSW	4	116098947	missense	probably benign
R5684:Rad54l	UTSW	4	116100563	missense	probably damaging	1.00
R5883:Rad54l	UTSW	4	116099046	intron	probably benign
R5963:Rad54l	UTSW	4	116110387	missense	probably damaging	1.00
R6035:Rad54l	UTSW	4	116097469	missense	probably damaging	1.00
R6035:Rad54l	UTSW	4	116097469	missense	probably damaging	1.00
R6369:Rad54l	UTSW	4	116111189	critical splice donor site	probably null
R6863:Rad54l	UTSW	4	116099669	missense	probably damaging	1.00
R7135:Rad54l	UTSW	4	116105830	missense	probably damaging	1.00
R7318:Rad54l	UTSW	4	116110709	missense	possibly damaging	0.91
R7767:Rad54l	UTSW	4	116099669	missense	probably damaging	1.00
R8707:Rad54l	UTSW	4	116097336	missense	probably benign	0.00
R9156:Rad54l	UTSW	4	116123152	splice site	probably benign
R9207:Rad54l	UTSW	4	116110018	missense	probably damaging	1.00
R9274:Rad54l	UTSW	4	116110470	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGACCACACACTGCATTTGG -3'
(R):5'- CATTCTCTGTTGCTGAGTGC -3'

Sequencing Primer
(F):5'- CACTGCATTTGGGAGACAGACC -3'
(R):5'- TAACTTCGCTGATGGGCAC -3'

Posted On

2016-02-04