Mutagenetix > Incidental Mutation

Incidental Mutation 'R0333:Rslcan18'

38350

Institutional Source

Beutler Lab

Gene Symbol

Rslcan18

Ensembl Gene

ENSMUSG00000074824

Gene Name

regulator of sex-limitation candidate 18

Synonyms

MMRRC Submission

038542-MU

Accession Numbers

Essential gene?

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

Stock #

R0333 (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 67246686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 309 (K309E)

Ref Sequence

ENSEMBL: ENSMUSP00000089111 (fasta)

Gene Model

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

AlphaFold

Q7M6X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000091526
AA Change: K309E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000089111
Gene: ENSMUSG00000074824
AA Change: K309E

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 damaging
Transcript: ENSMUST00000186303
AA Change: K185E

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235
AA Change: K185E

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

0.1441

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	T	C	9: 106,118,480 (GRCm39)	N214S	probably benign	Het
Antxr1	A	G	6: 87,165,820 (GRCm39)		probably benign	Het
Atxn7l3	A	T	11: 102,185,818 (GRCm39)		probably null	Het
Cab39l	A	G	14: 59,737,060 (GRCm39)	E60G	probably damaging	Het
Cdc5l	G	T	17: 45,704,142 (GRCm39)		probably benign	Het
Cux2	T	C	5: 121,998,671 (GRCm39)	E1423G	probably benign	Het
Dbndd1	G	T	8: 124,233,512 (GRCm39)	Q165K	probably damaging	Het
Drd1	C	A	13: 54,208,082 (GRCm39)	C37F	probably damaging	Het
Elp3	G	A	14: 65,828,042 (GRCm39)	P11L	probably benign	Het
F830045P16Rik	A	G	2: 129,314,777 (GRCm39)	Y167H	probably damaging	Het
Gimap3	G	A	6: 48,742,664 (GRCm39)	Q89*	probably null	Het
H2ac25	C	A	11: 58,845,685 (GRCm39)	S41*	probably null	Het
Herc1	G	A	9: 66,371,981 (GRCm39)		probably null	Het
Ipo11	A	G	13: 107,007,271 (GRCm39)	V603A	probably benign	Het
Kifap3	G	A	1: 163,624,833 (GRCm39)	A130T	probably damaging	Het
Klhl23	A	G	2: 69,664,241 (GRCm39)	Y530C	probably damaging	Het
Map4k1	C	T	7: 28,699,186 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,600 (GRCm39)	L778M	probably damaging	Het
Mtdh	T	C	15: 34,118,247 (GRCm39)	S344P	possibly damaging	Het
Ncoa3	T	G	2: 165,896,211 (GRCm39)	N371K	probably damaging	Het
Ncor2	C	A	5: 125,111,408 (GRCm39)		probably benign	Het
Nrn1l	A	G	8: 106,621,052 (GRCm39)	E48G	probably benign	Het
Nudcd1	A	G	15: 44,264,683 (GRCm39)	I271T	probably benign	Het
Or1e17	A	T	11: 73,831,593 (GRCm39)	I174F	possibly damaging	Het
Or2t1	T	C	14: 14,328,498 (GRCm38)	L129P	probably damaging	Het
Pard3b	A	G	1: 62,269,371 (GRCm39)	N653S	probably benign	Het
Plekhg1	A	C	10: 3,914,419 (GRCm39)	K1380N	probably damaging	Het
Ppara	T	A	15: 85,675,161 (GRCm39)	I210N	probably damaging	Het
Ppp2r5b	A	G	19: 6,279,077 (GRCm39)		probably benign	Het
Prkn	T	C	17: 11,286,027 (GRCm39)	F6L	probably damaging	Het
Prr14l	A	G	5: 32,985,337 (GRCm39)	L1386P	probably damaging	Het
Ralgapa1	A	G	12: 55,829,685 (GRCm39)		probably benign	Het
Reln	A	T	5: 22,134,240 (GRCm39)	L2563I	probably damaging	Het
Rps7	A	G	12: 28,681,200 (GRCm39)		probably benign	Het
Sec14l5	C	T	16: 4,984,930 (GRCm39)	T92M	probably damaging	Het
Slc22a8	G	A	19: 8,585,514 (GRCm39)		probably benign	Het
Smad2	G	A	18: 76,395,692 (GRCm39)	A44T	probably damaging	Het
Smcr8	T	C	11: 60,671,048 (GRCm39)	V732A	possibly damaging	Het
Spata2l	A	G	8: 123,960,371 (GRCm39)	F306S	probably damaging	Het
Stab2	T	C	10: 86,677,491 (GRCm39)	D2552G	probably benign	Het
Tctn3	A	T	19: 40,595,711 (GRCm39)	L358H	possibly damaging	Het
Tk2	C	T	8: 104,975,146 (GRCm39)		probably benign	Het
Tm6sf2	C	T	8: 70,530,564 (GRCm39)	R215C	probably damaging	Het
Tmbim6	T	C	15: 99,304,555 (GRCm39)	I204T	probably damaging	Het
Tubgcp2	C	A	7: 139,579,260 (GRCm39)	W675C	probably damaging	Het
Usp48	T	A	4: 137,321,794 (GRCm39)	I62N	probably damaging	Het
Vmn2r74	T	C	7: 85,601,491 (GRCm39)	T716A	probably benign	Het
Vps13b	C	A	15: 35,879,949 (GRCm39)	T3008K	probably damaging	Het
Wnk1	G	A	6: 119,905,124 (GRCm39)		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
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
R0898:Rslcan18	UTSW	13	67,246,880 (GRCm39)	missense	probably benign	0.02
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'- AGTAAAGCACTCTCcacactcatcaca -3'
(R):5'- GCTTTTCTTCTTATCTCAACTTCTACTCACca -3'

Sequencing Primer
(F):5'- gctttgccacattcttcacattc -3'
(R):5'- ccctccatacttcataaccacc -3'

Posted On

2013-05-23