Mutagenetix > Incidental Mutation

Incidental Mutation 'R1644:Rsl1'

173773

Institutional Source

Beutler Lab

Gene Symbol

Rsl1

Ensembl Gene

ENSMUSG00000058900

Gene Name

regulator of sex limited protein 1

Synonyms

rslcan-9

MMRRC Submission

039680-MU

Accession Numbers

Essential gene?

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

Stock #

R1644 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67321246-67332108 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 67325229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153578 (fasta)

Gene Model

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

AlphaFold

Q7M6Y1

Predicted Effect

probably benign
Transcript: ENSMUST00000021997

SMART Domains

Protein: ENSMUSP00000021997
Gene: ENSMUSG00000058900

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	T	1: 11,484,814 (GRCm39)	R8*	probably null	Het
Acacb	A	T	5: 114,333,346 (GRCm39)	H490L	probably damaging	Het
Ace	C	A	11: 105,875,932 (GRCm39)	H417N	probably damaging	Het
Adamtsl3	A	G	7: 82,099,298 (GRCm39)	N151D	possibly damaging	Het
Agap1	A	G	1: 89,591,452 (GRCm39)	N114S	probably damaging	Het
Arap3	A	T	18: 38,117,298 (GRCm39)	V926D	probably damaging	Het
Arhgap12	A	T	18: 6,112,340 (GRCm39)	I8N	probably benign	Het
Arhgef17	A	T	7: 100,578,711 (GRCm39)	F746I	probably damaging	Het
Atp6v0a1	T	C	11: 100,929,612 (GRCm39)	S471P	possibly damaging	Het
Bdp1	A	G	13: 100,197,448 (GRCm39)	V979A	probably benign	Het
Ccdc88c	C	A	12: 100,879,733 (GRCm39)	R1789L	probably damaging	Het
Cckar	A	T	5: 53,857,215 (GRCm39)	N327K	probably benign	Het
Cfap65	T	C	1: 74,956,334 (GRCm39)	T1082A	probably damaging	Het
Clcn7	T	A	17: 25,378,672 (GRCm39)	I719N	probably damaging	Het
Col27a1	C	G	4: 63,246,868 (GRCm39)		probably benign	Het
Cspp1	C	T	1: 10,196,663 (GRCm39)	T179I	probably damaging	Het
Dnah1	C	T	14: 31,024,249 (GRCm39)		probably benign	Het
Dnah6	A	G	6: 73,132,279 (GRCm39)	V1141A	probably benign	Het
Dusp4	A	G	8: 35,285,633 (GRCm39)	Y298C	probably damaging	Het
Efhc1	C	A	1: 21,037,625 (GRCm39)	Y267*	probably null	Het
Eif2s1	T	A	12: 78,913,295 (GRCm39)		probably null	Het
Epo	A	G	5: 137,481,417 (GRCm39)	V169A	possibly damaging	Het
Esr1	A	T	10: 4,951,380 (GRCm39)	Y586F	probably benign	Het
Fat2	T	C	11: 55,178,609 (GRCm39)	T1484A	possibly damaging	Het
Fat2	T	C	11: 55,187,007 (GRCm39)	T1280A	possibly damaging	Het
Gm5828	T	C	1: 16,839,485 (GRCm39)		noncoding transcript	Het
Idh3b	T	C	2: 130,123,430 (GRCm39)	I187V	possibly damaging	Het
Kif13a	A	C	13: 46,947,398 (GRCm39)	V862G	probably benign	Het
Kndc1	A	G	7: 139,510,669 (GRCm39)	D1327G	probably damaging	Het
Mfsd9	T	A	1: 40,812,958 (GRCm39)	R452S	probably benign	Het
Myh15	C	T	16: 48,952,566 (GRCm39)	R879C	probably benign	Het
Naip2	T	C	13: 100,319,437 (GRCm39)	R260G	possibly damaging	Het
Npat	T	G	9: 53,481,472 (GRCm39)	L1060R	probably damaging	Het
Or2aj4	T	A	16: 19,385,156 (GRCm39)	H159L	probably benign	Het
Or4c126	A	T	2: 89,824,297 (GRCm39)	T187S	possibly damaging	Het
Or4c15	A	T	2: 88,759,731 (GRCm39)	D309E	probably benign	Het
Or52n2b	A	C	7: 104,566,015 (GRCm39)	F163V	probably benign	Het
Or6f2	T	C	7: 139,756,561 (GRCm39)	V176A	probably benign	Het
Pld5	T	C	1: 175,803,192 (GRCm39)	T296A	possibly damaging	Het
Polq	C	T	16: 36,880,626 (GRCm39)	A651V	probably damaging	Het
Polr3a	G	A	14: 24,520,692 (GRCm39)	P607S	probably damaging	Het
Ranbp9	G	A	13: 43,566,015 (GRCm39)	R424C	probably damaging	Het
Sema4c	A	G	1: 36,589,885 (GRCm39)	S490P	probably damaging	Het
Setd3	A	T	12: 108,079,603 (GRCm39)	L300Q	possibly damaging	Het
Slc15a3	T	C	19: 10,834,595 (GRCm39)	I492T	possibly damaging	Het
Stag1	T	C	9: 100,762,953 (GRCm39)		probably benign	Het
Tgm4	A	G	9: 122,880,481 (GRCm39)	Y294C	probably damaging	Het
Tm9sf1	A	G	14: 55,878,757 (GRCm39)	S212P	probably benign	Het
Tmcc1	A	G	6: 116,110,826 (GRCm39)	S156P	probably damaging	Het
Vmn1r184	A	C	7: 25,966,670 (GRCm39)	M139L	probably benign	Het
Vmn1r209	A	C	13: 22,990,652 (GRCm39)	F13V	possibly damaging	Het
Xkr5	T	C	8: 18,984,141 (GRCm39)	E467G	probably benign	Het
Zdbf2	C	T	1: 63,348,131 (GRCm39)	S2170L	possibly damaging	Het
Zfp277	G	T	12: 40,379,609 (GRCm39)		probably null	Het
Zfp62	T	C	11: 49,106,596 (GRCm39)	I229T	probably damaging	Het
Zfp810	A	G	9: 22,190,324 (GRCm39)	S195P	possibly damaging	Het
Zfp94	G	A	7: 24,010,927 (GRCm39)		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
IGL02645:Rsl1	APN	13	67,330,273 (GRCm39)	missense	probably benign	0.00
R0097:Rsl1	UTSW	13	67,329,966 (GRCm39)	missense	probably damaging	0.99
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

Predicted Primers

PCR Primer
(F):5'- ACATCAGGCGTGGACCACATTTG -3'
(R):5'- ACCAATACTCAGTTGCATTTCCCCG -3'

Sequencing Primer
(F):5'- CCCTTGAAGGAACTAATTGTCTGC -3'
(R):5'- TACACAGGGCACACTGTTTG -3'

Posted On

2014-04-24