Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01396:Scel'

79472

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01396

Quality Score

Status

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 103608094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095576] [ENSMUST00000227322]

AlphaFold

Q9EQG3

Predicted Effect

probably benign
Transcript: ENSMUST00000095576

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123

Domain	Start	End	E-Value	Type
low complexity region	111	131	N/A	INTRINSIC
low complexity region	159	178	N/A	INTRINSIC
internal_repeat_1	204	327	9.24e-7	PROSPERO
internal_repeat_1	378	505	9.24e-7	PROSPERO
low complexity region	525	537	N/A	INTRINSIC
LIM	584	642	2.23e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000227322

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a precursor to the cornified envelope of terminally differentiated keratinocytes. This protein localizes to the periphery of cells and may function in the assembly or regulation of proteins in the cornified envelope. Transcript variants encoding different isoforms exist. A transcript variant utilizing an alternative polyA signal has been described in the literature, but its full-length nature has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are viable and fertile with normal hair morphology and development and normal skin morphology and barrier function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 87,972,790	Y469N	probably benign	Het
Actl11	T	C	9: 107,928,765	S96P	possibly damaging	Het
Ankrd13b	T	A	11: 77,472,372		probably null	Het
Apobec4	T	A	1: 152,756,266	I15K	probably damaging	Het
Arhgef28	G	T	13: 97,953,893	D1039E	probably damaging	Het
Atp1a1	C	T	3: 101,591,453	G175R	probably damaging	Het
AU040320	T	A	4: 126,869,378		probably benign	Het
Bcl9l	G	A	9: 44,506,824	R653H	probably damaging	Het
Ccdc141	T	A	2: 77,128,325	I144L	possibly damaging	Het
Cdh20	C	T	1: 104,947,429	T312I	possibly damaging	Het
Cdh23	C	T	10: 60,385,069	V1297I	possibly damaging	Het
Cfap57	T	C	4: 118,610,595	Y315C	probably damaging	Het
Chd8	A	G	14: 52,204,587		probably benign	Het
Cog5	A	G	12: 31,894,096	D660G	probably benign	Het
Cps1	T	C	1: 67,157,786	I332T	probably damaging	Het
Csgalnact2	T	C	6: 118,126,327	T225A	probably damaging	Het
Dchs1	A	G	7: 105,772,283	L310P	probably damaging	Het
Dgki	T	C	6: 37,000,090	N695S	probably damaging	Het
Gas7	T	A	11: 67,652,914		probably null	Het
Gm21286	T	C	4: 60,838,324		noncoding transcript	Het
Gm4799	C	T	10: 82,954,684		noncoding transcript	Het
Hdac4	T	C	1: 91,959,474		probably benign	Het
Hif1a	T	A	12: 73,940,533	S467T	probably benign	Het
Ier5	A	G	1: 155,098,550	V294A	probably damaging	Het
Ifna11	T	C	4: 88,820,077	V40A	probably benign	Het
Itga9	T	C	9: 118,607,123		probably benign	Het
Lbx1	G	T	19: 45,234,231	Q118K	probably benign	Het
Lta	A	T	17: 35,204,085		probably null	Het
Matr3	A	G	18: 35,588,389	Y471C	probably damaging	Het
Nrg2	A	T	18: 36,045,852		probably benign	Het
Olfr1156	G	T	2: 87,949,863	F123L	probably damaging	Het
Olfr1195	C	T	2: 88,683,231	C167Y	probably damaging	Het
Olfr1301	T	A	2: 111,754,603	M118K	probably damaging	Het
Olfr1301	T	C	2: 111,754,503	F85L	probably benign	Het
Patl1	A	G	19: 11,923,883	K299R	probably damaging	Het
Pdgfrb	A	G	18: 61,072,664	E574G	probably damaging	Het
Phf3	G	A	1: 30,804,305	Q1858*	probably null	Het
Prkca	T	C	11: 108,014,322	K197E	possibly damaging	Het
Psmc6	C	A	14: 45,343,667	Q307K	probably benign	Het
Rasa1	T	C	13: 85,258,442	I181V	probably benign	Het
Scn5a	A	T	9: 119,534,704	S457T	probably damaging	Het
Sesn3	A	G	9: 14,321,078	T216A	probably benign	Het
Slc25a21	A	G	12: 57,159,189	V19A	probably benign	Het
Slc34a1	A	G	13: 55,402,733	T81A	probably damaging	Het
Slc35a5	A	G	16: 45,151,503	Y117H	probably damaging	Het
Sptbn4	A	G	7: 27,414,771	V569A	probably benign	Het
Sqle	A	G	15: 59,323,874	Y333C	probably damaging	Het
Svep1	T	C	4: 58,068,552	E3078G	possibly damaging	Het
Tacc2	T	A	7: 130,759,189	I2737N	probably damaging	Het
Tet3	A	T	6: 83,369,638	Y1272*	probably null	Het
Tnr	G	T	1: 159,897,024	R1095L	possibly damaging	Het
Vmn1r184	T	C	7: 26,267,437	S203P	probably damaging	Het
Vmn2r94	A	G	17: 18,257,039	L370P	probably damaging	Het
Xrcc5	A	G	1: 72,354,245	H559R	probably benign	Het

Other mutations in Scel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Scel	APN	14	103529995	missense	probably benign	0.01
IGL00913:Scel	APN	14	103581809	missense	probably benign	0.35
IGL01086:Scel	APN	14	103612391	missense	probably benign	0.05
IGL01352:Scel	APN	14	103533338	missense	possibly damaging	0.54
IGL01954:Scel	APN	14	103603242	splice site	probably benign
IGL02064:Scel	APN	14	103533326	missense	probably damaging	0.98
IGL02186:Scel	APN	14	103564821	missense	probably benign	0.23
IGL02475:Scel	APN	14	103537008	missense	possibly damaging	0.95
IGL02926:Scel	APN	14	103576247	nonsense	probably null
IGL03122:Scel	APN	14	103599406	missense	possibly damaging	0.66
IGL03135:Scel	APN	14	103586514	missense	probably benign	0.02
PIT4585001:Scel	UTSW	14	103592368	missense	possibly damaging	0.90
R0346:Scel	UTSW	14	103529984	missense	probably damaging	1.00
R0394:Scel	UTSW	14	103562518	missense	probably benign	0.15
R0418:Scel	UTSW	14	103603254	missense	probably benign
R0635:Scel	UTSW	14	103583139	critical splice donor site	probably null
R0815:Scel	UTSW	14	103586480	missense	possibly damaging	0.83
R0863:Scel	UTSW	14	103586480	missense	possibly damaging	0.83
R0990:Scel	UTSW	14	103581832	missense	possibly damaging	0.55
R1084:Scel	UTSW	14	103564843	critical splice donor site	probably null
R1641:Scel	UTSW	14	103533316	missense	probably damaging	1.00
R2001:Scel	UTSW	14	103610790	missense	possibly damaging	0.66
R2002:Scel	UTSW	14	103541985	missense	probably damaging	1.00
R2341:Scel	UTSW	14	103608170	missense	possibly damaging	0.92
R3425:Scel	UTSW	14	103608106	missense	possibly damaging	0.92
R3836:Scel	UTSW	14	103592386	missense	possibly damaging	0.66
R4035:Scel	UTSW	14	103530004	missense	probably damaging	1.00
R4197:Scel	UTSW	14	103599400	missense	probably damaging	0.97
R4737:Scel	UTSW	14	103572037	missense	possibly damaging	0.79
R4801:Scel	UTSW	14	103583100	missense	probably benign	0.01
R4802:Scel	UTSW	14	103583100	missense	probably benign	0.01
R5369:Scel	UTSW	14	103586493	missense	probably benign	0.00
R5555:Scel	UTSW	14	103602206	missense	probably benign	0.27
R5582:Scel	UTSW	14	103583139	critical splice donor site	probably benign
R5931:Scel	UTSW	14	103605624	nonsense	probably null
R5978:Scel	UTSW	14	103529254	splice site	probably null
R6045:Scel	UTSW	14	103592213	missense	probably benign	0.12
R6062:Scel	UTSW	14	103585136	missense	possibly damaging	0.82
R6218:Scel	UTSW	14	103572042	missense	probably benign	0.12
R6225:Scel	UTSW	14	103591984	missense	probably benign	0.27
R7102:Scel	UTSW	14	103543832	nonsense	probably null
R7349:Scel	UTSW	14	103543879	missense	probably benign	0.11
R8376:Scel	UTSW	14	103572015	missense	probably benign	0.02
R8924:Scel	UTSW	14	103592371	missense	possibly damaging	0.66
R9014:Scel	UTSW	14	103585139	missense	probably benign
R9130:Scel	UTSW	14	103533310	missense	probably benign	0.05
R9135:Scel	UTSW	14	103602190	missense	probably benign
R9179:Scel	UTSW	14	103574400	missense	possibly damaging	0.79
R9614:Scel	UTSW	14	103605596	missense	probably damaging	1.00
R9638:Scel	UTSW	14	103541973	missense	possibly damaging	0.89
R9672:Scel	UTSW	14	103599402	missense	possibly damaging	0.82
R9719:Scel	UTSW	14	103572006	critical splice acceptor site	probably null
X0026:Scel	UTSW	14	103591993	missense	possibly damaging	0.46

Posted On

2013-11-05