Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00799:Rad21'

13727

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad21

Ensembl Gene

ENSMUSG00000022314

Gene Name

RAD21 cohesin complex component

Synonyms

SCC1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00799

Quality Score

Status

Chromosome

Chromosomal Location

51825636-51855143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51839521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 116 (D116E)

Ref Sequence

ENSEMBL: ENSMUSP00000022927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022927] [ENSMUST00000226529]

AlphaFold

Q61550

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022927
AA Change: D116E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022927
Gene: ENSMUSG00000022314
AA Change: D116E

Domain	Start	End	E-Value	Type
Pfam:Rad21_Rec8_N	1	107	6.6e-43	PFAM
low complexity region	267	283	N/A	INTRINSIC
low complexity region	430	440	N/A	INTRINSIC
low complexity region	502	514	N/A	INTRINSIC
low complexity region	521	547	N/A	INTRINSIC
Pfam:Rad21_Rec8	578	632	2.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226529
AA Change: D116E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	A	T	4: 144,281,843 (GRCm39)	H316Q	probably benign	Het
Boc	G	T	16: 44,313,318 (GRCm39)	D515E	probably benign	Het
Cenpe	T	A	3: 134,934,678 (GRCm39)		probably null	Het
Ctcf	A	G	8: 106,403,968 (GRCm39)	D608G	unknown	Het
Dab2ip	A	G	2: 35,597,787 (GRCm39)	I99V	probably benign	Het
Ecpas	T	A	4: 58,828,047 (GRCm39)	I981F	possibly damaging	Het
Ehd2	C	T	7: 15,697,392 (GRCm39)	A139T	possibly damaging	Het
Fam151b	C	A	13: 92,614,361 (GRCm39)	K42N	probably damaging	Het
Gapvd1	A	T	2: 34,589,872 (GRCm39)	D1002E	probably benign	Het
Gusb	T	C	5: 130,028,222 (GRCm39)	Y290C	probably damaging	Het
Hoxd10	A	G	2: 74,522,786 (GRCm39)	S155G	probably benign	Het
Hp	A	G	8: 110,302,250 (GRCm39)		probably null	Het
Ift122	T	C	6: 115,854,497 (GRCm39)	S112P	probably damaging	Het
Iqgap2	A	G	13: 95,794,452 (GRCm39)		probably benign	Het
Mtbp	T	A	15: 55,480,904 (GRCm39)	L290*	probably null	Het
Nr5a2	T	A	1: 136,818,536 (GRCm39)	D330V	probably damaging	Het
R3hdm1	T	A	1: 128,102,700 (GRCm39)	L157Q	probably damaging	Het
Slc23a3	A	T	1: 75,109,925 (GRCm39)	I114N	possibly damaging	Het
Syne1	A	G	10: 5,347,878 (GRCm38)	I1140L	probably benign	Het

Other mutations in Rad21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01328:Rad21	APN	15	51,836,520 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Rad21	UTSW	15	51,836,639 (GRCm39)	missense	probably benign	0.25
R0119:Rad21	UTSW	15	51,828,426 (GRCm39)	missense	probably benign	0.01
R0299:Rad21	UTSW	15	51,828,426 (GRCm39)	missense	probably benign	0.01
R0385:Rad21	UTSW	15	51,837,259 (GRCm39)	missense	possibly damaging	0.70
R0440:Rad21	UTSW	15	51,831,754 (GRCm39)	missense	probably benign	0.24
R1216:Rad21	UTSW	15	51,833,532 (GRCm39)	missense	possibly damaging	0.70
R1631:Rad21	UTSW	15	51,833,436 (GRCm39)	missense	probably damaging	1.00
R1763:Rad21	UTSW	15	51,841,566 (GRCm39)	missense	probably damaging	1.00
R1769:Rad21	UTSW	15	51,835,703 (GRCm39)	missense	probably benign
R2377:Rad21	UTSW	15	51,831,834 (GRCm39)	missense	probably damaging	0.99
R2761:Rad21	UTSW	15	51,846,039 (GRCm39)	missense	probably damaging	1.00
R3116:Rad21	UTSW	15	51,828,397 (GRCm39)	missense	probably null	1.00
R3853:Rad21	UTSW	15	51,835,712 (GRCm39)	missense	probably benign
R3875:Rad21	UTSW	15	51,833,361 (GRCm39)	missense	probably damaging	0.99
R4618:Rad21	UTSW	15	51,833,420 (GRCm39)	missense	probably damaging	1.00
R4856:Rad21	UTSW	15	51,831,896 (GRCm39)	missense	probably damaging	1.00
R4886:Rad21	UTSW	15	51,831,896 (GRCm39)	missense	probably damaging	1.00
R5022:Rad21	UTSW	15	51,830,102 (GRCm39)	missense	probably benign	0.02
R5057:Rad21	UTSW	15	51,830,102 (GRCm39)	missense	probably benign	0.02
R7288:Rad21	UTSW	15	51,845,976 (GRCm39)	missense	possibly damaging	0.94
R7840:Rad21	UTSW	15	51,836,538 (GRCm39)	missense	probably damaging	1.00
R7980:Rad21	UTSW	15	51,828,422 (GRCm39)	missense	probably benign	0.07
R8033:Rad21	UTSW	15	51,827,628 (GRCm39)	missense	probably damaging	1.00
R8770:Rad21	UTSW	15	51,831,749 (GRCm39)	missense	probably benign	0.00
R9176:Rad21	UTSW	15	51,841,455 (GRCm39)	missense	probably damaging	0.99
Z1088:Rad21	UTSW	15	51,846,022 (GRCm39)	missense	probably damaging	0.97
Z1177:Rad21	UTSW	15	51,841,454 (GRCm39)	missense	probably damaging	0.98

Posted On

2012-12-06