Mutagenetix > Incidental Mutation

Incidental Mutation 'R8033:Rad21'

618101

Institutional Source

Beutler Lab

Gene Symbol

Rad21

Ensembl Gene

ENSMUSG00000022314

Gene Name

RAD21 cohesin complex component

Synonyms

SCC1

MMRRC Submission

067470-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8033 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51825636-51855143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 51827628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 578 (T578P)

Ref Sequence

ENSEMBL: ENSMUSP00000022927 (fasta)

Gene Model

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

AlphaFold

Q61550

Predicted Effect

probably damaging
Transcript: ENSMUST00000022927
AA Change: T578P

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

SMART Domains

Protein: ENSMUSP00000022927
Gene: ENSMUSG00000022314
AA Change: T578P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,927,348 (GRCm39)	I1335K	probably damaging	Het
Adgrb2	A	G	4: 129,912,805 (GRCm39)	E1277G	probably benign	Het
Agbl3	A	G	6: 34,816,429 (GRCm39)	T785A	possibly damaging	Het
Ahnak	T	C	19: 8,981,074 (GRCm39)	V786A	probably benign	Het
Armc2	A	G	10: 41,884,680 (GRCm39)	I87T	possibly damaging	Het
Asap2	T	C	12: 21,274,390 (GRCm39)	S373P	probably damaging	Het
Casd1	A	T	6: 4,619,773 (GRCm39)	I173F	probably benign	Het
Chd2	A	G	7: 73,085,628 (GRCm39)	Y1669H	probably damaging	Het
Clic3	A	G	2: 25,348,617 (GRCm39)	E199G	probably benign	Het
Cpa4	G	A	6: 30,590,799 (GRCm39)	V366I	probably benign	Het
Creg2	T	C	1: 39,689,795 (GRCm39)	Y105C	probably damaging	Het
Cyp20a1	T	C	1: 60,411,750 (GRCm39)	I266T	probably benign	Het
Dido1	T	C	2: 180,316,635 (GRCm39)	D685G	probably damaging	Het
Dop1b	C	G	16: 93,566,371 (GRCm39)	R1051G	probably benign	Het
Fam114a2	A	G	11: 57,398,333 (GRCm39)	S202P	probably damaging	Het
Fance	G	T	17: 28,532,659 (GRCm39)		probably benign	Het
Farsa	T	A	8: 85,594,198 (GRCm39)	L316Q	probably benign	Het
Fcrl6	T	C	1: 172,426,748 (GRCm39)	D66G	probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gh	A	T	11: 106,191,381 (GRCm39)	D154E	probably benign	Het
Kmt2a	A	T	9: 44,756,767 (GRCm39)	V1160E	probably damaging	Het
Lct	T	C	1: 128,212,996 (GRCm39)	T1886A	probably benign	Het
Lrwd1	G	A	5: 136,152,079 (GRCm39)	L633F	probably damaging	Het
Mmp15	A	T	8: 96,094,590 (GRCm39)	N155Y	probably benign	Het
Msantd5f6	T	C	4: 73,321,329 (GRCm39)	N143D	probably benign	Het
Mtf2	T	G	5: 108,234,951 (GRCm39)	C125G	probably damaging	Het
Muc16	A	T	9: 18,547,902 (GRCm39)	D6130E	probably benign	Het
Or5m9b	T	A	2: 85,905,219 (GRCm39)	I45N	possibly damaging	Het
Orc1	T	A	4: 108,462,761 (GRCm39)	Y613N	probably damaging	Het
Pak1	A	G	7: 97,535,590 (GRCm39)	N227S	probably benign	Het
Pex3	G	A	10: 13,407,024 (GRCm39)	Q306*	probably null	Het
Pld1	A	T	3: 28,083,359 (GRCm39)	M160L	probably benign	Het
Plekhh1	G	A	12: 79,117,710 (GRCm39)	R902H	probably benign	Het
Prp2	A	G	6: 132,577,391 (GRCm39)	H226R	unknown	Het
Sp140	G	A	1: 85,547,815 (GRCm39)	V181I	probably benign	Het
Spen	A	G	4: 141,199,057 (GRCm39)	V3190A	probably benign	Het
Spg11	A	C	2: 121,917,432 (GRCm39)	C1011W	probably damaging	Het
Syngr3	G	A	17: 24,905,579 (GRCm39)	R132*	probably null	Het
Tbc1d10c	A	G	19: 4,238,013 (GRCm39)	F254L	possibly damaging	Het
Tcea1	T	A	1: 4,962,141 (GRCm39)	I176K	probably damaging	Het
Timm50	G	A	7: 28,006,258 (GRCm39)	A281V	possibly damaging	Het
Tmem144	C	T	3: 79,732,624 (GRCm39)	R218K	probably benign	Het
Upp2	A	G	2: 58,670,071 (GRCm39)	Y259C	probably damaging	Het
Vcan	A	G	13: 89,852,479 (GRCm39)	V827A	probably benign	Het
Vps41	T	A	13: 18,994,635 (GRCm39)	W161R	possibly damaging	Het
Zfp994	A	T	17: 22,419,665 (GRCm39)	I428N	probably damaging	Het

Other mutations in Rad21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00799:Rad21	APN	15	51,839,521 (GRCm39)	missense	possibly damaging	0.76
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
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

Predicted Primers

PCR Primer
(F):5'- ATAATATGGAACCGTGGTCCAGG -3'
(R):5'- GTTGTGGCGCCTTCACTTAC -3'

Sequencing Primer
(F):5'- CCAGGGGTTGCAATGATGTCAC -3'
(R):5'- AGGCCTTTACCTTAGTGACTAGCATG -3'

Posted On

2020-01-23