Mutagenetix > Incidental Mutation

Incidental Mutation 'R0069:Rad54l2'

16893

Institutional Source

Beutler Lab

Gene Symbol

Rad54l2

Ensembl Gene

ENSMUSG00000040661

Gene Name

RAD54 like 2 (S. cerevisiae)

Synonyms

Srisnf2l, G630026H09Rik, Arip4

MMRRC Submission

038360-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0069 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106565281-106666393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106587564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 734 (V734L)

Ref Sequence

ENSEMBL: ENSMUSP00000045454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046502
AA Change: V734L

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: V734L

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

Meta Mutation Damage Score

0.0668

Coding Region Coverage

1x: 86.4%
3x: 80.4%
10x: 57.4%
20x: 26.1%

Validation Efficiency

94% (60/64)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,538,525 (GRCm39)	C632S	probably damaging	Het
Ccnb1ip1	G	A	14: 81,519,382 (GRCm38)	Q322*	probably null	Het
Cd101	A	G	3: 100,915,533 (GRCm39)	V678A	probably benign	Het
Creb1	A	G	1: 64,615,367 (GRCm39)	I240V	possibly damaging	Het
Dctn2	A	T	10: 127,113,354 (GRCm39)		probably null	Het
Diablo	A	T	5: 123,656,087 (GRCm39)	S117R	probably damaging	Het
Ebf2	A	T	14: 67,647,499 (GRCm39)	R349S	probably damaging	Het
Gne	A	C	4: 44,060,099 (GRCm39)	V98G	probably damaging	Het
Ints3	A	G	3: 90,307,954 (GRCm39)		probably benign	Het
Itgal	A	G	7: 126,909,503 (GRCm39)	T56A	probably benign	Het
Lzts3	T	A	2: 130,478,460 (GRCm39)	T213S	probably benign	Het
Myo1d	A	G	11: 80,528,779 (GRCm39)	I681T	probably damaging	Het
Pde8a	T	C	7: 80,968,871 (GRCm39)		probably benign	Het
Pole2	A	T	12: 69,256,661 (GRCm39)	V288E	probably damaging	Het
Poteg	T	C	8: 27,937,849 (GRCm39)	S2P	probably benign	Het
Ppp2r5c	A	T	12: 110,534,204 (GRCm39)	M356L	probably benign	Het
Ryr1	A	C	7: 28,809,930 (GRCm39)		probably benign	Het
Slfn10-ps	A	G	11: 82,926,368 (GRCm39)		noncoding transcript	Het
Sult1e1	A	T	5: 87,727,756 (GRCm39)	H175Q	probably damaging	Het
Trgv7	A	G	13: 19,362,592 (GRCm39)	R94G	probably benign	Het
Ube2e3	C	A	2: 78,750,293 (GRCm39)		probably benign	Het
Vps13d	A	G	4: 144,789,133 (GRCm39)	I746T	probably benign	Het
Xpnpep3	T	C	15: 81,314,999 (GRCm39)	V233A	probably benign	Het
Zfp329	A	T	7: 12,544,859 (GRCm39)	S222T	probably damaging	Het
Zswim6	T	C	13: 107,875,098 (GRCm39)		noncoding transcript	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
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
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

Posted On

2013-01-20