Mutagenetix > Incidental Mutation

Incidental Mutation 'R5658:Rad54l2'

443934

Institutional Source

Beutler Lab

Gene Symbol

Rad54l2

Ensembl Gene

ENSMUSG00000040661

Gene Name

RAD54 like 2 (S. cerevisiae)

Synonyms

Srisnf2l, G630026H09Rik, Arip4

MMRRC Submission

043172-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5658 (G1)

Quality Score

109

Status

Not validated

Chromosome

Chromosomal Location

106565281-106666393 bp(-) (GRCm39)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

ACCTCCTCCTCCTCCTCCTCCTCCTC to ACCTCCTCCTCCTCCTCCTCCTC at 106631191 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000045454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046502]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046502

SMART Domains

Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661

Domain	Start	End	E-Value	Type
coiled coil region	20	49	N/A	INTRINSIC
low complexity region	73	85	N/A	INTRINSIC
low complexity region	130	146	N/A	INTRINSIC
low complexity region	186	200	N/A	INTRINSIC
low complexity region	215	229	N/A	INTRINSIC
DEXDc	267	520	4.21e-20	SMART
HELICc	751	854	1.88e-17	SMART
low complexity region	959	976	N/A	INTRINSIC
low complexity region	1348	1368	N/A	INTRINSIC
low complexity region	1453	1460	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,644 (GRCm39)	L221P	probably damaging	Het
Art2b	A	G	7: 101,229,569 (GRCm39)	V110A	probably damaging	Het
Bccip	A	G	7: 133,319,349 (GRCm39)	I147V	possibly damaging	Het
Bcl9l	G	T	9: 44,420,466 (GRCm39)	G1254W	probably damaging	Het
Cep68	C	T	11: 20,191,885 (GRCm39)		probably null	Het
Chst5	A	G	8: 112,617,422 (GRCm39)	V66A	probably damaging	Het
F5	C	A	1: 164,019,907 (GRCm39)	T794K	probably damaging	Het
Faf2	T	C	13: 54,789,347 (GRCm39)	V55A	probably benign	Het
Gm7535	T	A	17: 18,131,582 (GRCm39)		probably benign	Het
Itpr3	T	C	17: 27,326,852 (GRCm39)	V1471A	possibly damaging	Het
Kbtbd4	T	A	2: 90,736,423 (GRCm39)	S145T	probably benign	Het
Kcnh3	C	T	15: 99,139,957 (GRCm39)	P948S	possibly damaging	Het
Kcnq1	G	A	7: 142,917,432 (GRCm39)		probably null	Het
Kng2	T	C	16: 22,815,770 (GRCm39)		probably null	Het
Krt9	A	G	11: 100,081,593 (GRCm39)	I312T	probably damaging	Het
Lactb2	T	A	1: 13,697,642 (GRCm39)	H254L	probably benign	Het
Lama5	A	T	2: 179,850,069 (GRCm39)	Y187*	probably null	Het
Ldc1	A	G	4: 130,114,234 (GRCm39)	V61A	probably benign	Het
Maf1	T	C	15: 76,237,420 (GRCm39)	V154A	possibly damaging	Het
Mlh1	A	G	9: 111,076,448 (GRCm39)	V303A	probably damaging	Het
Mrgprh	A	T	17: 13,096,646 (GRCm39)	K295N	possibly damaging	Het
Mtrr	G	T	13: 68,717,034 (GRCm39)	A393D	possibly damaging	Het
Myef2l	C	T	3: 10,153,837 (GRCm39)	S202F	probably damaging	Het
Nebl	A	G	2: 17,353,663 (GRCm39)	Y963H	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Pmpcb	A	G	5: 21,943,999 (GRCm39)	T78A	probably damaging	Het
Ptprz1	G	A	6: 23,016,188 (GRCm39)	R1677Q	probably damaging	Het
Ryr1	A	T	7: 28,790,514 (GRCm39)		probably null	Het
Sh3bp2	T	A	5: 34,714,291 (GRCm39)	I162N	probably damaging	Het
Slc38a10	C	T	11: 119,996,218 (GRCm39)	A960T	probably benign	Het
Sntb1	C	T	15: 55,655,472 (GRCm39)	C248Y	probably damaging	Het
Sowahc	G	A	10: 59,059,049 (GRCm39)	R395H	possibly damaging	Het
Tbc1d5	T	C	17: 51,120,869 (GRCm39)	R416G	probably benign	Het
Tnfaip6	A	T	2: 51,941,047 (GRCm39)	Y196F	possibly damaging	Het
Tpo	A	G	12: 30,105,137 (GRCm39)	L911P	possibly damaging	Het
Try5	T	C	6: 41,289,361 (GRCm39)	R72G	probably damaging	Het
Vwa8	T	C	14: 79,219,838 (GRCm39)		probably null	Het

Other mutations in Rad54l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Rad54l2	APN	9	106,577,760 (GRCm39)	missense	probably benign
IGL00718:Rad54l2	APN	9	106,590,654 (GRCm39)	missense	probably damaging	1.00
IGL00917:Rad54l2	APN	9	106,587,638 (GRCm39)	missense	possibly damaging	0.95
IGL01319:Rad54l2	APN	9	106,596,245 (GRCm39)	missense	probably benign	0.18
IGL01447:Rad54l2	APN	9	106,579,971 (GRCm39)	missense	probably damaging	1.00
IGL01469:Rad54l2	APN	9	106,599,957 (GRCm39)	missense	probably damaging	1.00
IGL01836:Rad54l2	APN	9	106,593,356 (GRCm39)	missense	probably benign	0.00
IGL02017:Rad54l2	APN	9	106,631,239 (GRCm39)	missense	possibly damaging	0.85
IGL02179:Rad54l2	APN	9	106,597,589 (GRCm39)	missense	probably damaging	1.00
IGL02348:Rad54l2	APN	9	106,597,575 (GRCm39)	missense	probably damaging	1.00
IGL02822:Rad54l2	APN	9	106,587,606 (GRCm39)	missense	probably damaging	1.00
IGL03169:Rad54l2	APN	9	106,596,263 (GRCm39)	missense	probably benign	0.37
IGL03245:Rad54l2	APN	9	106,580,827 (GRCm39)	missense	probably damaging	1.00
IGL03253:Rad54l2	APN	9	106,581,422 (GRCm39)	missense	probably damaging	1.00
IGL02988:Rad54l2	UTSW	9	106,577,784 (GRCm39)	missense	probably benign
PIT4495001:Rad54l2	UTSW	9	106,593,343 (GRCm39)	missense	probably benign	0.02
R0001:Rad54l2	UTSW	9	106,585,416 (GRCm39)	missense	probably damaging	0.97
R0069:Rad54l2	UTSW	9	106,587,564 (GRCm39)	missense	possibly damaging	0.67
R0069:Rad54l2	UTSW	9	106,587,564 (GRCm39)	missense	possibly damaging	0.67
R0114:Rad54l2	UTSW	9	106,590,654 (GRCm39)	missense	probably damaging	1.00
R0427:Rad54l2	UTSW	9	106,570,891 (GRCm39)	missense	possibly damaging	0.65
R0519:Rad54l2	UTSW	9	106,585,498 (GRCm39)	missense	probably damaging	0.98
R0760:Rad54l2	UTSW	9	106,596,805 (GRCm39)	critical splice donor site	probably null
R1018:Rad54l2	UTSW	9	106,589,589 (GRCm39)	missense	probably benign	0.32
R1630:Rad54l2	UTSW	9	106,580,828 (GRCm39)	missense	possibly damaging	0.79
R1701:Rad54l2	UTSW	9	106,577,692 (GRCm39)	critical splice donor site	probably null
R1903:Rad54l2	UTSW	9	106,570,916 (GRCm39)	splice site	probably null
R2187:Rad54l2	UTSW	9	106,631,191 (GRCm39)	small deletion	probably benign
R2205:Rad54l2	UTSW	9	106,594,997 (GRCm39)	missense	probably damaging	1.00
R2566:Rad54l2	UTSW	9	106,580,825 (GRCm39)	missense	possibly damaging	0.95
R2983:Rad54l2	UTSW	9	106,577,789 (GRCm39)	missense	probably benign	0.10
R3176:Rad54l2	UTSW	9	106,631,142 (GRCm39)	critical splice donor site	probably null
R3276:Rad54l2	UTSW	9	106,631,142 (GRCm39)	critical splice donor site	probably null
R3718:Rad54l2	UTSW	9	106,570,726 (GRCm39)	missense	probably benign
R4063:Rad54l2	UTSW	9	106,597,613 (GRCm39)	missense	probably benign	0.10
R4206:Rad54l2	UTSW	9	106,594,994 (GRCm39)	missense	probably damaging	1.00
R4271:Rad54l2	UTSW	9	106,570,825 (GRCm39)	missense	probably benign	0.22
R4377:Rad54l2	UTSW	9	106,570,421 (GRCm39)	missense	probably benign	0.00
R4700:Rad54l2	UTSW	9	106,631,224 (GRCm39)	missense	possibly damaging	0.85
R4729:Rad54l2	UTSW	9	106,593,317 (GRCm39)	missense	probably benign
R4872:Rad54l2	UTSW	9	106,595,091 (GRCm39)	missense	probably damaging	1.00
R4997:Rad54l2	UTSW	9	106,600,108 (GRCm39)	missense	possibly damaging	0.70
R5475:Rad54l2	UTSW	9	106,583,057 (GRCm39)	missense	probably damaging	1.00
R6246:Rad54l2	UTSW	9	106,577,692 (GRCm39)	critical splice donor site	probably null
R6248:Rad54l2	UTSW	9	106,587,537 (GRCm39)	missense	probably damaging	1.00
R6329:Rad54l2	UTSW	9	106,595,121 (GRCm39)	missense	possibly damaging	0.89
R6631:Rad54l2	UTSW	9	106,590,739 (GRCm39)	nonsense	probably null
R6773:Rad54l2	UTSW	9	106,570,516 (GRCm39)	missense	probably benign
R7148:Rad54l2	UTSW	9	106,596,318 (GRCm39)	nonsense	probably null
R7171:Rad54l2	UTSW	9	106,590,677 (GRCm39)	missense	probably damaging	1.00
R7226:Rad54l2	UTSW	9	106,590,671 (GRCm39)	missense	probably damaging	0.99
R7327:Rad54l2	UTSW	9	106,570,660 (GRCm39)	missense	possibly damaging	0.68
R7337:Rad54l2	UTSW	9	106,583,024 (GRCm39)	missense	probably damaging	1.00
R7636:Rad54l2	UTSW	9	106,597,586 (GRCm39)	missense	probably damaging	1.00
R7659:Rad54l2	UTSW	9	106,590,777 (GRCm39)	missense	probably benign	0.11
R7713:Rad54l2	UTSW	9	106,594,422 (GRCm39)	missense	probably damaging	1.00
R7748:Rad54l2	UTSW	9	106,596,233 (GRCm39)	missense	possibly damaging	0.53
R8021:Rad54l2	UTSW	9	106,596,840 (GRCm39)	missense	probably benign	0.00
R8084:Rad54l2	UTSW	9	106,590,701 (GRCm39)	missense	possibly damaging	0.63
R8552:Rad54l2	UTSW	9	106,570,777 (GRCm39)	missense	possibly damaging	0.77
R8768:Rad54l2	UTSW	9	106,596,809 (GRCm39)	missense	probably benign	0.04
R8952:Rad54l2	UTSW	9	106,566,050 (GRCm39)	unclassified	probably benign
R8953:Rad54l2	UTSW	9	106,570,461 (GRCm39)	missense	probably benign	0.02
R9041:Rad54l2	UTSW	9	106,600,018 (GRCm39)	missense	possibly damaging	0.85
R9296:Rad54l2	UTSW	9	106,579,942 (GRCm39)	missense	probably damaging	1.00
R9451:Rad54l2	UTSW	9	106,585,488 (GRCm39)	missense	probably benign	0.13
R9523:Rad54l2	UTSW	9	106,573,151 (GRCm39)	missense	probably damaging	1.00
R9657:Rad54l2	UTSW	9	106,581,372 (GRCm39)	missense	probably damaging	0.99
R9757:Rad54l2	UTSW	9	106,595,120 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGTTCTGTGGCCCTTTCC -3'
(R):5'- TCCTAAGTGCAGCTGTGGTG -3'

Sequencing Primer
(F):5'- AAACCTGGTTGACAGTGAGTTCC -3'
(R):5'- GGTGATTCTGATGCCTCTTGACC -3'

Posted On

2016-11-09