Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02822:Rad54l2'

361064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad54l2

Ensembl Gene

ENSMUSG00000040661

Gene Name

RAD54 like 2 (S. cerevisiae)

Synonyms

Srisnf2l, G630026H09Rik, Arip4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02822

Quality Score

Status

Chromosome

Chromosomal Location

106565281-106666393 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106587606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 720 (S720P)

Ref Sequence

ENSEMBL: ENSMUSP00000045454 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046502
AA Change: S720P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: S720P

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	T	C	16: 88,971,683 (GRCm39)	C2R	unknown	Het
Aldh1a7	A	G	19: 20,679,630 (GRCm39)	V382A	possibly damaging	Het
Asap2	T	C	12: 21,315,911 (GRCm39)	V943A	probably damaging	Het
Bod1l	C	T	5: 41,951,688 (GRCm39)	V2908M	possibly damaging	Het
Casd1	C	T	6: 4,630,017 (GRCm39)	T471I	probably damaging	Het
Cd200l1	T	C	16: 45,262,968 (GRCm39)	Y57C	probably damaging	Het
Col20a1	T	C	2: 180,638,600 (GRCm39)	Y405H	probably damaging	Het
Elp1	A	G	4: 56,774,520 (GRCm39)		probably null	Het
Evi5l	T	C	8: 4,237,248 (GRCm39)	I117T	probably damaging	Het
Fbxw5	A	G	2: 25,393,022 (GRCm39)	N164S	probably benign	Het
Fga	A	G	3: 82,938,789 (GRCm39)	E388G	probably damaging	Het
Fgfr1	A	G	8: 26,047,818 (GRCm39)	T55A	probably benign	Het
Gdpd4	T	C	7: 97,621,131 (GRCm39)	V148A	possibly damaging	Het
Gsap	T	A	5: 21,422,442 (GRCm39)	V137D	probably damaging	Het
Hsdl2	A	G	4: 59,601,379 (GRCm39)	H117R	possibly damaging	Het
Htr4	T	A	18: 62,561,255 (GRCm39)		probably benign	Het
Ifitm1	T	C	7: 140,548,191 (GRCm39)	V8A	possibly damaging	Het
Kdelr1	A	G	7: 45,523,288 (GRCm39)		probably benign	Het
Klra6	G	T	6: 129,993,673 (GRCm39)	Y199*	probably null	Het
Matcap1	T	C	8: 106,011,330 (GRCm39)	Y268C	probably damaging	Het
Mmp21	C	T	7: 133,277,828 (GRCm39)	D333N	possibly damaging	Het
Mocs1	T	C	17: 49,746,597 (GRCm39)	F189S	probably damaging	Het
Myo18b	C	T	5: 112,923,211 (GRCm39)	A1849T	probably damaging	Het
Naca	C	A	10: 127,875,214 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,926,868 (GRCm39)	H778Q	possibly damaging	Het
Nlrp4c	C	T	7: 6,068,726 (GRCm39)	P209L	probably damaging	Het
Or10q1b	A	G	19: 13,683,019 (GRCm39)	D276G	probably benign	Het
Or14j1	T	C	17: 38,146,534 (GRCm39)	Y215H	possibly damaging	Het
Or4a81	A	G	2: 89,619,444 (GRCm39)	L84P	possibly damaging	Het
Osbpl9	A	G	4: 108,930,118 (GRCm39)	S258P	probably damaging	Het
Pclaf	A	G	9: 65,808,875 (GRCm39)	E108G	possibly damaging	Het
Pira13	T	A	7: 3,819,917 (GRCm39)	T549S	possibly damaging	Het
Pla2r1	C	A	2: 60,285,517 (GRCm39)	C699F	probably damaging	Het
Pnkp	A	G	7: 44,511,848 (GRCm39)	Y120C	probably damaging	Het
Psme4	T	A	11: 30,798,204 (GRCm39)		probably benign	Het
Rasa1	T	C	13: 85,400,633 (GRCm39)	H301R	probably damaging	Het
Spg11	C	A	2: 121,905,015 (GRCm39)	W1316L	probably damaging	Het
Ube2t	C	T	1: 134,901,688 (GRCm39)		probably benign	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	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
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
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

2015-12-18