Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02645:Rsl1'

301930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsl1

Ensembl Gene

ENSMUSG00000058900

Gene Name

regulator of sex limited protein 1

Synonyms

rslcan-9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02645

Quality Score

Status

Chromosome

Chromosomal Location

67321246-67332108 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67330273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 240 (F240L)

Ref Sequence

ENSEMBL: ENSMUSP00000021997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021997] [ENSMUST00000225334]

AlphaFold

Q7M6Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000021997
AA Change: F240L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000021997
Gene: ENSMUSG00000058900
AA Change: F240L

Domain	Start	End	E-Value	Type
KRAB	15	75	2.67e-33	SMART
ZnF_C2H2	119	141	1.92e-2	SMART
ZnF_C2H2	147	169	1.6e-4	SMART
ZnF_C2H2	175	197	1.28e-3	SMART
ZnF_C2H2	203	225	1.69e-3	SMART
ZnF_C2H2	259	281	3.83e-2	SMART
ZnF_C2H2	287	309	5.14e-3	SMART
ZnF_C2H2	315	337	6.78e-3	SMART
ZnF_C2H2	343	365	8.94e-3	SMART
ZnF_C2H2	371	393	9.44e-2	SMART
ZnF_C2H2	399	421	3.58e-2	SMART
ZnF_C2H2	427	449	5.5e-3	SMART
ZnF_C2H2	455	477	4.72e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225774

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang4	T	C	14: 52,001,804 (GRCm39)	Y48C	probably damaging	Het
Aox1	T	A	1: 58,373,883 (GRCm39)	M848K	probably damaging	Het
Apol7c	A	T	15: 77,413,083 (GRCm39)	S56T	probably benign	Het
Asic4	G	A	1: 75,449,998 (GRCm39)		probably benign	Het
Asxl1	A	G	2: 153,234,777 (GRCm39)	K162R	possibly damaging	Het
Car12	T	A	9: 66,654,961 (GRCm39)	H130Q	probably benign	Het
Cars1	T	C	7: 143,111,646 (GRCm39)	E737G	probably damaging	Het
Ccdc141	G	A	2: 76,905,211 (GRCm39)	R412*	probably null	Het
Cd36	T	C	5: 17,990,878 (GRCm39)	T421A	probably benign	Het
Clasp2	T	G	9: 113,719,129 (GRCm39)	M758R	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Ebf4	A	G	2: 130,203,761 (GRCm39)	K471E	probably damaging	Het
Fat2	T	A	11: 55,173,654 (GRCm39)	D2353V	probably damaging	Het
Gm10136	A	G	19: 28,981,140 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,655,702 (GRCm39)	I930V	probably benign	Het
Ndrg2	T	A	14: 52,143,979 (GRCm39)	M300L	possibly damaging	Het
Nhs	A	G	X: 160,942,054 (GRCm39)	S111P	probably benign	Het
Nme8	T	A	13: 19,844,755 (GRCm39)	L111F	probably damaging	Het
Nol8	T	A	13: 49,818,947 (GRCm39)		probably null	Het
Or10g1b	T	A	14: 52,627,958 (GRCm39)	T91S	possibly damaging	Het
Or12e13	C	T	2: 87,663,959 (GRCm39)	T192M	probably benign	Het
Or4a76	T	C	2: 89,460,679 (GRCm39)	T188A	probably benign	Het
Or4c116	T	C	2: 88,941,963 (GRCm39)	R298G	probably benign	Het
Pcdhac2	G	A	18: 37,278,292 (GRCm39)	G424D	probably damaging	Het
Pex3	T	G	10: 13,422,173 (GRCm39)	E42D	possibly damaging	Het
Plxnb1	C	T	9: 108,943,311 (GRCm39)		probably benign	Het
Rpe65	T	A	3: 159,312,128 (GRCm39)	I209N	probably damaging	Het
Rttn	A	T	18: 89,128,810 (GRCm39)	I1921F	probably benign	Het
Scn3a	A	T	2: 65,344,871 (GRCm39)	F539Y	probably benign	Het
Secisbp2	T	A	13: 51,836,496 (GRCm39)	M767K	probably damaging	Het
Sipa1l3	C	T	7: 29,028,405 (GRCm39)		probably null	Het
Slfn8	T	C	11: 82,894,380 (GRCm39)	N753S	possibly damaging	Het
Spmip6	A	G	4: 41,517,080 (GRCm39)	V28A	probably damaging	Het
Sympk	T	G	7: 18,786,349 (GRCm39)	V984G	probably damaging	Het
Tacr3	A	T	3: 134,566,943 (GRCm39)	D272V	possibly damaging	Het
Timd6	A	G	11: 46,477,047 (GRCm39)	R167G	probably benign	Het
Tnpo3	G	T	6: 29,562,899 (GRCm39)	S606*	probably null	Het
Zfp804a	T	C	2: 81,884,220 (GRCm39)	L29P	possibly damaging	Het
Zfp94	C	T	7: 24,003,179 (GRCm39)	G88R	probably benign	Het

Other mutations in Rsl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Rsl1	APN	13	67,329,862 (GRCm39)	missense	probably benign	0.04
IGL01120:Rsl1	APN	13	67,325,230 (GRCm39)	splice site	probably benign
IGL02041:Rsl1	APN	13	67,324,612 (GRCm39)	missense	probably damaging	1.00
IGL02316:Rsl1	APN	13	67,325,120 (GRCm39)	splice site	probably null
IGL02632:Rsl1	APN	13	67,330,227 (GRCm39)	missense	probably damaging	0.97
R0097:Rsl1	UTSW	13	67,329,966 (GRCm39)	missense	probably damaging	0.99
R1644:Rsl1	UTSW	13	67,325,229 (GRCm39)	splice site	probably benign
R2040:Rsl1	UTSW	13	67,330,145 (GRCm39)	missense	probably damaging	1.00
R2206:Rsl1	UTSW	13	67,330,892 (GRCm39)	missense	probably benign
R2207:Rsl1	UTSW	13	67,330,892 (GRCm39)	missense	probably benign
R4235:Rsl1	UTSW	13	67,325,226 (GRCm39)	critical splice donor site	probably null
R4995:Rsl1	UTSW	13	67,330,313 (GRCm39)	missense	possibly damaging	0.60
R5118:Rsl1	UTSW	13	67,330,045 (GRCm39)	missense	probably damaging	1.00
R6733:Rsl1	UTSW	13	67,325,206 (GRCm39)	missense	probably benign
R6748:Rsl1	UTSW	13	67,330,688 (GRCm39)	missense	probably benign	0.00
R7397:Rsl1	UTSW	13	67,330,101 (GRCm39)	missense	possibly damaging	0.57
R7531:Rsl1	UTSW	13	67,324,566 (GRCm39)	missense	possibly damaging	0.92
R7729:Rsl1	UTSW	13	67,330,284 (GRCm39)	missense	possibly damaging	0.95
R7963:Rsl1	UTSW	13	67,330,173 (GRCm39)	missense	probably damaging	0.98
R9188:Rsl1	UTSW	13	67,330,185 (GRCm39)	missense	probably benign	0.06
R9310:Rsl1	UTSW	13	67,324,510 (GRCm39)	critical splice acceptor site	probably null
R9653:Rsl1	UTSW	13	67,330,106 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16