Mutagenetix > Incidental Mutation

Incidental Mutation 'R8315:Rad21l'

641614

Institutional Source

Beutler Lab

Gene Symbol

Rad21l

Ensembl Gene

ENSMUSG00000074704

Gene Name

RAD21-like (S. pombe)

Synonyms

Gm14160

MMRRC Submission

067720-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

151487324-151510453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 151497160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 318 (M318K)

Ref Sequence

ENSEMBL: ENSMUSP00000136918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096439] [ENSMUST00000180195]

AlphaFold

A2AU37

Predicted Effect

probably benign
Transcript: ENSMUST00000096439
AA Change: M315K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: M315K

Domain	Start	End	E-Value	Type
Pfam:Rad21_Rec8_N	1	111	3.9e-43	PFAM
low complexity region	198	213	N/A	INTRINSIC
low complexity region	275	299	N/A	INTRINSIC
Pfam:Rad21_Rec8	493	546	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180195
AA Change: M318K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: M318K

Domain	Start	End	E-Value	Type
Pfam:Rad21_Rec8_N	1	106	5.7e-40	PFAM
low complexity region	198	213	N/A	INTRINSIC
low complexity region	278	302	N/A	INTRINSIC
Pfam:Rad21_Rec8	496	549	1.3e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility and reduced female fertility associated with abnormal meiosis and synaptonemal complex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,328,460 (GRCm39)	E3511V	probably null	Het
Abca13	A	G	11: 9,535,502 (GRCm39)	T4709A	probably benign	Het
Aff1	G	T	5: 103,958,956 (GRCm39)	V342F	probably damaging	Het
Ahnak2	T	A	12: 112,745,756 (GRCm39)	Q1698L		Het
Ajap1	G	T	4: 153,516,813 (GRCm39)	T176K	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Cct3	A	G	3: 88,220,564 (GRCm39)	T259A	probably benign	Het
Cdk8	C	T	5: 146,205,061 (GRCm39)	L21F	probably damaging	Het
Cimip4	T	C	15: 78,262,686 (GRCm39)	R262G	probably benign	Het
Csf2rb	G	A	15: 78,231,581 (GRCm39)	G494D	possibly damaging	Het
Cstf3	G	T	2: 104,420,926 (GRCm39)		probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
Dcp2	T	C	18: 44,529,071 (GRCm39)	I62T	probably benign	Het
Dnaaf9	ATCCTCCTCCTCCTCCTCC	ATCCTCCTCCTCCTCC	2: 130,612,655 (GRCm39)		probably benign	Het
Dpp8	T	C	9: 64,988,133 (GRCm39)	*893Q	probably null	Het
Dpyd	A	T	3: 119,108,534 (GRCm39)	H859L	probably benign	Het
Dst	T	C	1: 34,323,501 (GRCm39)		probably null	Het
Dynlt2a2	A	G	17: 15,190,717 (GRCm39)	Y81H	probably damaging	Het
Egfr	A	G	11: 16,825,027 (GRCm39)	I456V	probably benign	Het
Elf3	A	G	1: 135,184,314 (GRCm39)	F185L	probably benign	Het
Emx1	A	G	6: 85,171,088 (GRCm39)	T164A	possibly damaging	Het
Fras1	G	A	5: 96,891,041 (GRCm39)	V2857M	probably damaging	Het
Gba2	AAAGAACCGTGTATACCGCCTGGGATGGAAAGAA	AAA	4: 43,569,937 (GRCm39)		probably null	Het
Gda	T	A	19: 21,394,435 (GRCm39)	T215S	probably benign	Het
Gm14443	C	T	2: 175,013,640 (GRCm39)		probably null	Het
Gpr152	C	T	19: 4,193,469 (GRCm39)	P337S	probably damaging	Het
H2-T10	A	G	17: 36,429,905 (GRCm39)	I296T	probably benign	Het
Hoxd11	G	A	2: 74,513,466 (GRCm39)	E244K	probably benign	Het
Inka1	C	A	9: 107,861,506 (GRCm39)	S270I	probably damaging	Het
Kazn	C	T	4: 141,869,002 (GRCm39)	D325N		Het
Lama2	T	C	10: 27,298,655 (GRCm39)	N147S	probably damaging	Het
Lamc1	A	T	1: 153,119,167 (GRCm39)	N817K	probably benign	Het
Met	T	C	6: 17,533,956 (GRCm39)	S636P	probably damaging	Het
Mrgpra3	A	T	7: 47,251,051 (GRCm39)	M1K	probably null	Het
Myh15	C	A	16: 48,940,381 (GRCm39)	T777N	probably damaging	Het
Or10ag2	C	A	2: 87,248,995 (GRCm39)	A201D	probably damaging	Het
Or6c209	G	A	10: 129,483,522 (GRCm39)	C175Y	probably benign	Het
Or8c13	T	C	9: 38,091,505 (GRCm39)	T205A	probably benign	Het
Pbx2	A	G	17: 34,811,707 (GRCm39)	I60M	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pla2g4a	T	C	1: 149,761,965 (GRCm39)	N164S	probably benign	Het
Poln	A	G	5: 34,266,717 (GRCm39)	M480T	probably benign	Het
Ppp2r2a	T	C	14: 67,261,177 (GRCm39)	N181S	probably damaging	Het
Ppp3r2	A	C	4: 49,681,705 (GRCm39)	F82V	probably damaging	Het
Prox2	A	G	12: 85,142,182 (GRCm39)	V7A	probably benign	Het
Ptpn3	A	T	4: 57,270,063 (GRCm39)	I33K	possibly damaging	Het
Rftn1	A	G	17: 50,309,665 (GRCm39)	S445P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Rtp4	C	T	16: 23,431,998 (GRCm39)	P177S	possibly damaging	Het
Saa4	T	A	7: 46,379,052 (GRCm39)	N96I	possibly damaging	Het
Shb	A	G	4: 45,489,079 (GRCm39)	Y266H	probably damaging	Het
Slc45a4	T	G	15: 73,461,405 (GRCm39)	Y88S	probably damaging	Het
Tbccd1	A	G	16: 22,641,564 (GRCm39)	M312T	probably damaging	Het
Tecta	C	T	9: 42,299,121 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,044,428 (GRCm39)	C526*	probably null	Het
Tmem87a	C	T	2: 120,234,441 (GRCm39)	G34D	probably damaging	Het
Trav13d-1	C	A	14: 53,089,059 (GRCm39)	Q23K	probably benign	Het
Txndc11	G	T	16: 10,893,465 (GRCm39)	T755N	possibly damaging	Het
Vmn1r223	A	G	13: 23,434,339 (GRCm39)	D311G	probably damaging	Het
Vmn2r66	T	A	7: 84,643,932 (GRCm39)	Y826F	possibly damaging	Het
Wdr90	A	T	17: 26,064,399 (GRCm39)	M1824K	probably benign	Het
Zfp523	G	A	17: 28,421,562 (GRCm39)	G440D	possibly damaging	Het

Other mutations in Rad21l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Rad21l	APN	2	151,495,436 (GRCm39)	missense	probably benign	0.04
IGL00815:Rad21l	APN	2	151,509,909 (GRCm39)	missense	probably damaging	1.00
IGL00847:Rad21l	APN	2	151,502,635 (GRCm39)	missense	probably benign	0.00
IGL01545:Rad21l	APN	2	151,497,084 (GRCm39)	missense	probably benign	0.00
IGL02983:Rad21l	APN	2	151,497,040 (GRCm39)	missense	probably damaging	1.00
IGL03001:Rad21l	APN	2	151,510,389 (GRCm39)	missense	probably damaging	1.00
3-1:Rad21l	UTSW	2	151,496,567 (GRCm39)	missense	possibly damaging	0.52
R0219:Rad21l	UTSW	2	151,496,508 (GRCm39)	splice site	probably benign
R0382:Rad21l	UTSW	2	151,487,363 (GRCm39)	missense	probably damaging	1.00
R0413:Rad21l	UTSW	2	151,493,851 (GRCm39)	missense	probably benign
R0511:Rad21l	UTSW	2	151,490,989 (GRCm39)	splice site	probably benign
R1555:Rad21l	UTSW	2	151,500,348 (GRCm39)	missense	probably benign	0.03
R1606:Rad21l	UTSW	2	151,496,606 (GRCm39)	missense	probably damaging	1.00
R1696:Rad21l	UTSW	2	151,510,447 (GRCm39)	missense	probably damaging	1.00
R1951:Rad21l	UTSW	2	151,497,179 (GRCm39)	missense	probably benign	0.04
R1999:Rad21l	UTSW	2	151,496,621 (GRCm39)	critical splice acceptor site	probably null
R2060:Rad21l	UTSW	2	151,487,349 (GRCm39)	missense	probably benign	0.21
R2068:Rad21l	UTSW	2	151,509,927 (GRCm39)	missense	probably damaging	1.00
R3037:Rad21l	UTSW	2	151,502,700 (GRCm39)	missense	probably damaging	1.00
R4805:Rad21l	UTSW	2	151,509,927 (GRCm39)	missense	probably damaging	1.00
R5185:Rad21l	UTSW	2	151,499,382 (GRCm39)	missense	probably benign	0.01
R5388:Rad21l	UTSW	2	151,495,403 (GRCm39)	missense	probably benign
R5504:Rad21l	UTSW	2	151,510,357 (GRCm39)	missense	probably damaging	1.00
R5530:Rad21l	UTSW	2	151,499,430 (GRCm39)	missense	probably benign	0.00
R6113:Rad21l	UTSW	2	151,499,398 (GRCm39)	missense	probably damaging	0.98
R6233:Rad21l	UTSW	2	151,495,462 (GRCm39)	missense	probably benign
R7096:Rad21l	UTSW	2	151,509,840 (GRCm39)	missense	probably benign	0.31
R7337:Rad21l	UTSW	2	151,500,365 (GRCm39)	missense	probably damaging	1.00
R7822:Rad21l	UTSW	2	151,497,045 (GRCm39)	missense	probably benign
R8368:Rad21l	UTSW	2	151,495,390 (GRCm39)	missense	probably benign
R8673:Rad21l	UTSW	2	151,502,718 (GRCm39)	missense	possibly damaging	0.77
R8698:Rad21l	UTSW	2	151,487,373 (GRCm39)	missense	probably damaging	1.00
R8769:Rad21l	UTSW	2	151,509,838 (GRCm39)	missense	probably benign	0.05
R9308:Rad21l	UTSW	2	151,491,049 (GRCm39)	missense	probably benign	0.07
Z1088:Rad21l	UTSW	2	151,509,939 (GRCm39)	missense	probably damaging	1.00
Z1176:Rad21l	UTSW	2	151,497,152 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCATATGCTAAAGAAGTAAAGGC -3'
(R):5'- AGAAGTATTCATTGTCTTCCCACG -3'

Sequencing Primer
(F):5'- TCTGTAAATCTGAGGCCAGC -3'
(R):5'- GGCCACCCTGCAGATTATC -3'

Posted On

2020-07-28