Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01520:Rslcan18'

90457

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rslcan18

Ensembl Gene

ENSMUSG00000074824

Gene Name

regulator of sex-limitation candidate 18

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

67244677-67262092 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67250172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 21 (V21A)

Ref Sequence

ENSEMBL: ENSMUSP00000140296 (fasta)

Gene Model

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

AlphaFold

Q7M6X5

Predicted Effect

unknown
Transcript: ENSMUST00000091526
AA Change: V145A

SMART Domains

Protein: ENSMUSP00000089111
Gene: ENSMUSG00000074824
AA Change: V145A

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: V21A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000140296
Gene: ENSMUSG00000100235
AA Change: V21A

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: ENSMUST00000187652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225558

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,734,318 (GRCm39)	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,347,754 (GRCm39)	L149Q	probably damaging	Het
Bltp1	T	A	3: 37,027,409 (GRCm39)	Y2265*	probably null	Het
Cd40lg	A	G	X: 56,265,148 (GRCm39)	N132D	probably benign	Het
Cemip	G	T	7: 83,597,830 (GRCm39)	T1060K	probably benign	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ces5a	A	T	8: 94,246,206 (GRCm39)	S328T	probably benign	Het
Cfap70	A	G	14: 20,470,755 (GRCm39)	C497R	probably benign	Het
Cndp2	T	C	18: 84,686,732 (GRCm39)	K430R	probably benign	Het
Cplane1	C	A	15: 8,251,395 (GRCm39)	T1889K	probably damaging	Het
Crlf3	T	C	11: 79,950,972 (GRCm39)	D126G	probably benign	Het
Cxcr1	A	T	1: 74,231,434 (GRCm39)	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,150,329 (GRCm39)		noncoding transcript	Het
Erbb2	C	T	11: 98,324,835 (GRCm39)	H810Y	probably benign	Het
Fmn1	C	A	2: 113,274,713 (GRCm39)		probably benign	Het
Fpr3	A	G	17: 18,191,325 (GRCm39)	T199A	possibly damaging	Het
Gcsh	A	G	8: 117,710,688 (GRCm39)		probably benign	Het
Gm10073	T	A	8: 107,299,901 (GRCm39)	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561 (GRCm39)	Q456K	probably damaging	Het
Hgs	C	A	11: 120,369,174 (GRCm39)	P317T	probably damaging	Het
Inmt	C	A	6: 55,148,213 (GRCm39)	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,551,211 (GRCm39)	M460I	possibly damaging	Het
Map9	A	T	3: 82,286,272 (GRCm39)	N359I	probably damaging	Het
Mavs	T	C	2: 131,087,263 (GRCm39)	S254P	probably benign	Het
Mcts1	T	A	X: 37,700,636 (GRCm39)		probably benign	Het
Mecp2	C	A	X: 73,079,447 (GRCm39)	R344L	possibly damaging	Het
Or1e32	T	G	11: 73,705,612 (GRCm39)	T99P	probably damaging	Het
Or4z4	A	G	19: 12,077,000 (GRCm39)	M1T	probably null	Het
Or5b3	G	T	19: 13,388,114 (GRCm39)	M60I	probably damaging	Het
Or8g36	T	C	9: 39,422,342 (GRCm39)	I225V	possibly damaging	Het
Or8g54	T	G	9: 39,706,674 (GRCm39)	M1R	probably null	Het
Or9g4	T	C	2: 85,504,701 (GRCm39)	T265A	probably benign	Het
Rasgrp1	T	C	2: 117,119,144 (GRCm39)	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,584,898 (GRCm39)	S185T	possibly damaging	Het
Rd3	A	T	1: 191,717,283 (GRCm39)	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,386,864 (GRCm39)	D148V	probably damaging	Het
Rnf43	C	A	11: 87,555,542 (GRCm39)	A34E	probably damaging	Het
Septin9	T	C	11: 117,243,469 (GRCm39)	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,110,482 (GRCm39)	H103R	probably benign	Het
Spata6l	A	T	19: 28,873,532 (GRCm39)		probably null	Het
Ssh2	A	G	11: 77,340,732 (GRCm39)	D628G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,051 (GRCm39)		probably null	Het
Tmem119	A	G	5: 113,933,546 (GRCm39)	F85S	probably damaging	Het
Tpp1	A	T	7: 105,396,936 (GRCm39)	I398N	probably benign	Het
Ttc3	T	C	16: 94,191,066 (GRCm39)	Y203H	probably benign	Het
Vars1	G	T	17: 35,232,849 (GRCm39)	V898L	probably benign	Het
Vmn1r85	A	C	7: 12,819,081 (GRCm39)	V21G	probably damaging	Het
Zfp521	T	C	18: 14,072,045 (GRCm39)	H65R	possibly damaging	Het

Other mutations in Rslcan18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09