Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Rad21l'

13728

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad21l

Ensembl Gene

ENSMUSG00000074704

Gene Name

RAD21-like (S. pombe)

Synonyms

Gm14160

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

151487324-151510453 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 151502635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 192 (A192S)

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: A192S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000094174
Gene: ENSMUSG00000074704
AA Change: A192S

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: A192S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136918
Gene: ENSMUSG00000074704
AA Change: A192S

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

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tlcd1	T	A	11: 78,070,914 (GRCm39)	Y168N	probably damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	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
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
R8315:Rad21l	UTSW	2	151,497,160 (GRCm39)	missense	probably benign	0.00
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

Posted On

2012-12-06