Mutagenetix > Incidental Mutation

Incidental Mutation 'R0898:Rslcan18'

83762

Institutional Source

Beutler Lab

Gene Symbol

Rslcan18

Ensembl Gene

ENSMUSG00000074824

Gene Name

regulator of sex-limitation candidate 18

Synonyms

MMRRC Submission

039058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R0898 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67244677-67262092 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 67246880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 120 (N120S)

Ref Sequence

ENSEMBL: ENSMUSP00000140296 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091526] [ENSMUST00000109743] [ENSMUST00000186303]

AlphaFold

Q7M6X5

Predicted Effect

probably benign
Transcript: ENSMUST00000091526
AA Change: N244S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089111
Gene: ENSMUSG00000074824
AA Change: N244S

Domain	Start	End	E-Value	Type
KRAB	96	156	5.31e-28	SMART
ZnF_C2H2	171	193	4.24e-4	SMART
ZnF_C2H2	199	221	1.56e-2	SMART
ZnF_C2H2	227	249	1.82e-3	SMART
ZnF_C2H2	255	277	1.82e-3	SMART
ZnF_C2H2	283	305	3.26e-5	SMART
ZnF_C2H2	311	333	1.82e-3	SMART
ZnF_C2H2	339	361	1.26e-2	SMART
ZnF_C2H2	367	389	2.12e-4	SMART
ZnF_C2H2	395	417	4.87e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109743

SMART Domains

Protein: ENSMUSP00000105365
Gene: ENSMUSG00000058883

Domain	Start	End	E-Value	Type
KRAB	17	77	3.75e-28	SMART
ZnF_C2H2	93	115	1.12e-3	SMART
ZnF_C2H2	121	143	5.14e-3	SMART
ZnF_C2H2	149	171	1.1e-2	SMART
ZnF_C2H2	177	199	6.78e-3	SMART
ZnF_C2H2	205	227	1.47e-3	SMART
ZnF_C2H2	233	255	7.78e-3	SMART
ZnF_C2H2	261	283	1.95e-3	SMART
ZnF_C2H2	289	311	5.21e-4	SMART
ZnF_C2H2	317	339	7.9e-4	SMART
ZnF_C2H2	345	367	8.34e-3	SMART
ZnF_C2H2	373	395	1.3e-4	SMART
ZnF_C2H2	401	423	4.87e-4	SMART
ZnF_C2H2	429	451	5.14e-3	SMART
ZnF_C2H2	457	479	1.2e-3	SMART
ZnF_C2H2	485	507	1.72e-4	SMART
ZnF_C2H2	513	535	1.6e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185856

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185954

Predicted Effect

probably benign
Transcript: ENSMUST00000186303
AA Change: N120S

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235
AA Change: N120S

Domain	Start	End	E-Value	Type
KRAB	1	32	9.7e-3	SMART
ZnF_C2H2	47	69	1.8e-6	SMART
ZnF_C2H2	75	97	6.7e-5	SMART
ZnF_C2H2	103	125	7.6e-6	SMART
ZnF_C2H2	131	153	7.6e-6	SMART
ZnF_C2H2	159	181	1.4e-7	SMART
ZnF_C2H2	187	209	7.6e-6	SMART
ZnF_C2H2	215	237	5.5e-5	SMART
ZnF_C2H2	243	265	8.9e-7	SMART
ZnF_C2H2	271	293	2e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225558

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipor1	T	A	1: 134,351,814 (GRCm39)		probably null	Het
Apmap	A	G	2: 150,427,669 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,667,221 (GRCm39)	N442S	probably benign	Het
Bpifb5	C	T	2: 154,075,254 (GRCm39)	A394V	probably benign	Het
Brpf3	A	G	17: 29,025,964 (GRCm39)	T346A	possibly damaging	Het
Ccdc154	A	G	17: 25,383,055 (GRCm39)		probably benign	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Col3a1	T	C	1: 45,373,153 (GRCm39)		probably benign	Het
Cpm	A	C	10: 117,512,011 (GRCm39)		probably benign	Het
Crlf2	G	C	5: 109,705,004 (GRCm39)	P67R	probably damaging	Het
Ddx59	T	C	1: 136,344,679 (GRCm39)	Y117H	probably damaging	Het
Fam241b	A	G	10: 61,944,773 (GRCm39)	F98L	probably damaging	Het
Fmn2	G	A	1: 174,331,026 (GRCm39)	G472E	unknown	Het
Gcdh	T	C	8: 85,620,189 (GRCm39)	H41R	possibly damaging	Het
Gm7713	A	C	15: 59,866,290 (GRCm39)		noncoding transcript	Het
Gmeb1	T	C	4: 131,962,093 (GRCm39)	T189A	probably benign	Het
Iqck	G	A	7: 118,570,664 (GRCm39)	C272Y	probably damaging	Het
Kcnn2	T	C	18: 45,692,543 (GRCm39)	C40R	possibly damaging	Het
Map3k1	T	C	13: 111,904,490 (GRCm39)		probably benign	Het
Nabp1	T	C	1: 51,510,496 (GRCm39)	I169V	probably benign	Het
Or14j8	T	C	17: 38,263,127 (GRCm39)	T263A	probably benign	Het
Or8c20	G	A	9: 38,260,738 (GRCm39)	V120M	probably damaging	Het
Pfkm	A	G	15: 98,026,111 (GRCm39)	I569V	probably benign	Het
Plcb1	A	T	2: 135,229,063 (GRCm39)	T1096S	possibly damaging	Het
Plscr4	A	C	9: 92,366,806 (GRCm39)	D140A	probably damaging	Het
Plxna2	A	G	1: 194,479,332 (GRCm39)	D1331G	probably damaging	Het
Ppfia4	T	C	1: 134,248,864 (GRCm39)	T498A	probably benign	Het
Prkar2b	A	T	12: 32,013,001 (GRCm39)	L372I	possibly damaging	Het
Sbf2	C	T	7: 109,970,859 (GRCm39)	V846I	possibly damaging	Het
Slc16a7	A	G	10: 125,069,370 (GRCm39)	I102T	possibly damaging	Het
Slc1a4	T	C	11: 20,254,349 (GRCm39)	T506A	probably damaging	Het
Slc22a7	T	C	17: 46,744,075 (GRCm39)	T462A	probably damaging	Het
Sox11	T	C	12: 27,391,224 (GRCm39)	Y395C	probably damaging	Het
Taf2	T	C	15: 54,923,480 (GRCm39)	T266A	probably damaging	Het
Tanc1	C	T	2: 59,621,132 (GRCm39)	T317I	probably damaging	Het
Tnxb	T	C	17: 34,889,719 (GRCm39)	S71P	probably damaging	Het
Tpgs2	G	A	18: 25,282,207 (GRCm39)	P115S	probably damaging	Het
Trmt10a	C	T	3: 137,855,279 (GRCm39)	P139L	probably damaging	Het
Zfp113	T	C	5: 138,143,051 (GRCm39)	S400G	probably benign	Het

Other mutations in Rslcan18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01520:Rslcan18	APN	13	67,250,172 (GRCm39)	missense	probably benign	0.01
IGL01760:Rslcan18	APN	13	67,262,015 (GRCm39)	missense	probably benign	0.04
R0003:Rslcan18	UTSW	13	67,246,533 (GRCm39)	missense	probably benign	0.01
R0333:Rslcan18	UTSW	13	67,246,686 (GRCm39)	missense	probably damaging	0.99
R0505:Rslcan18	UTSW	13	67,250,183 (GRCm39)	missense	probably benign	0.31
R0525:Rslcan18	UTSW	13	67,260,322 (GRCm39)	missense	probably benign	0.03
R1449:Rslcan18	UTSW	13	67,250,164 (GRCm39)	missense	possibly damaging	0.65
R1511:Rslcan18	UTSW	13	67,247,016 (GRCm39)	missense	possibly damaging	0.94
R1575:Rslcan18	UTSW	13	67,256,121 (GRCm39)	intron	probably benign
R1973:Rslcan18	UTSW	13	67,256,087 (GRCm39)	intron	probably benign
R3109:Rslcan18	UTSW	13	67,246,671 (GRCm39)	missense	possibly damaging	0.53
R4707:Rslcan18	UTSW	13	67,246,590 (GRCm39)	missense	probably damaging	1.00
R5277:Rslcan18	UTSW	13	67,246,498 (GRCm39)	missense	probably benign	0.03
R8887:Rslcan18	UTSW	13	67,246,793 (GRCm39)	missense	probably damaging	1.00
R9472:Rslcan18	UTSW	13	67,260,296 (GRCm39)	missense	probably benign	0.11
R9475:Rslcan18	UTSW	13	67,250,128 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGACTGAGGTGATAACTCCTGCTGT -3'
(R):5'- TCCCATTTCACACAATCATCACTGACTT -3'

Sequencing Primer
(F):5'- tttgtgtctactgagggctg -3'
(R):5'- aaatgtaaagaatgtggcaaagc -3'

Posted On

2013-11-08