Mutagenetix > Incidental Mutation

Incidental Mutation 'R0760:Rad54l2'

70050

Institutional Source

Beutler Lab

Gene Symbol

Rad54l2

Ensembl Gene

ENSMUSG00000040661

Gene Name

RAD54 like 2 (S. cerevisiae)

Synonyms

Srisnf2l, G630026H09Rik, Arip4

MMRRC Submission

038940-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106565281-106666393 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 106596805 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 null
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

Predicted Effect

probably benign
Transcript: ENSMUST00000190363

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.8%
20x: 92.8%

Validation Efficiency

95% (39/41)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	G	6: 124,324,661 (GRCm39)	V120A	possibly damaging	Het
Adamts2	T	C	11: 50,666,153 (GRCm39)	V383A	probably damaging	Het
Alcam	C	T	16: 52,116,035 (GRCm39)	V180M	probably benign	Het
Catip	A	G	1: 74,402,118 (GRCm39)		probably benign	Het
Ccm2l	A	C	2: 152,914,104 (GRCm39)	N298T	probably damaging	Het
Ccni	A	G	5: 93,331,188 (GRCm39)	V261A	possibly damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cyb5d1	A	G	11: 69,285,999 (GRCm39)	F41L	probably benign	Het
Fbxw8	A	G	5: 118,203,966 (GRCm39)		probably null	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gpaa1	T	C	15: 76,216,119 (GRCm39)	I33T	probably benign	Het
Grip1	T	A	10: 119,853,983 (GRCm39)	S512T	probably damaging	Het
Gtpbp1	G	A	15: 79,603,356 (GRCm39)	G140E	probably damaging	Het
Hspa4l	T	A	3: 40,739,155 (GRCm39)	L681*	probably null	Het
Hspg2	A	G	4: 137,239,660 (GRCm39)	T456A	probably damaging	Het
Igkv3-1	A	T	6: 70,681,119 (GRCm39)	D106V	probably damaging	Het
Inhbc	C	T	10: 127,193,237 (GRCm39)	G260S	probably damaging	Het
Itga2	C	T	13: 114,996,168 (GRCm39)	V708I	possibly damaging	Het
Kif5c	T	C	2: 49,578,765 (GRCm39)	I131T	probably damaging	Het
Kmt2c	A	G	5: 25,558,315 (GRCm39)	Y1133H	possibly damaging	Het
Lama2	A	G	10: 26,920,429 (GRCm39)		probably null	Het
N4bp1	A	G	8: 87,573,540 (GRCm39)	Y744H	probably damaging	Het
Or14j7	C	T	17: 38,235,005 (GRCm39)	Q183*	probably null	Het
Or1n2	A	G	2: 36,797,233 (GRCm39)	S92G	probably benign	Het
Ovol2	A	G	2: 144,173,679 (GRCm39)		probably null	Het
Pappa2	C	A	1: 158,544,531 (GRCm39)		probably null	Het
Pcdh10	G	A	3: 45,335,005 (GRCm39)	E440K	probably benign	Het
Pcsk4	A	G	10: 80,161,775 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,915,802 (GRCm39)	N937S	possibly damaging	Het
Ppp6r1	A	G	7: 4,642,722 (GRCm39)	F541L	probably benign	Het
Ranbp2	C	T	10: 58,312,613 (GRCm39)	P1111L	possibly damaging	Het
Rasal3	A	G	17: 32,611,146 (GRCm39)	F929S	probably benign	Het
Rnf111	A	G	9: 70,336,960 (GRCm39)	V909A	probably damaging	Het
Rnf168	A	G	16: 32,117,204 (GRCm39)		probably null	Het
Slc2a5	T	C	4: 150,224,124 (GRCm39)	L244P	probably benign	Het
Snta1	T	A	2: 154,222,860 (GRCm39)	I288F	probably damaging	Het
Sv2a	G	A	3: 96,095,498 (GRCm39)	C297Y	probably damaging	Het
Trim44	C	T	2: 102,230,905 (GRCm39)		probably benign	Het
Uggt1	A	T	1: 36,200,805 (GRCm39)	I1164N	possibly damaging	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
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
R5658:Rad54l2	UTSW	9	106,631,191 (GRCm39)	small deletion	probably benign
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'- TCCAGGCTAGACTACAGGGAAAGAC -3'
(R):5'- GAAGCACTTGGAAATACGTTTGAGCTG -3'

Sequencing Primer
(F):5'- TAGACTACAGGGAAAGACTTCAATAC -3'
(R):5'- cgctctacccgctgaac -3'

Posted On

2013-09-30