Mutagenetix > Incidental Mutation

Incidental Mutation 'R8924:Scel'

679500

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8924 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103592371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 463 (N463S)

Ref Sequence

ENSEMBL: ENSMUSP00000093233 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095576
AA Change: N463S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: N463S

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

possibly damaging
Transcript: ENSMUST00000227322
AA Change: N443S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (88/90)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,295,461	N572D	probably benign	Het
Abca8b	A	G	11: 109,947,177	V1145A	probably benign	Het
Ank1	T	C	8: 23,098,995	M562T	probably benign	Het
Atn1	A	T	6: 124,745,248	S881T	probably benign	Het
B3galt1	C	T	2: 68,118,715	T258I	probably benign	Het
Bahcc1	C	T	11: 120,276,765	L1331F	probably benign	Het
Capn12	G	A	7: 28,883,203	V168M	probably damaging	Het
Card14	T	C	11: 119,326,104	V338A	possibly damaging	Het
Cd27	T	C	6: 125,236,469		probably benign	Het
Cd37	A	G	7: 45,238,685	L37P	probably damaging	Het
Cd96	A	G	16: 46,099,022	L212P	probably damaging	Het
Celsr1	T	C	15: 86,032,470	E434G	possibly damaging	Het
Cep152	A	G	2: 125,602,858	M456T	possibly damaging	Het
Ces3b	G	A	8: 105,084,987	R45H	probably benign	Het
Cfap54	T	G	10: 93,001,823	T1072P	probably damaging	Het
Chodl	A	T	16: 78,941,771	M172L	possibly damaging	Het
Cilp2	A	G	8: 69,886,458	S47P	probably damaging	Het
Clasrp	T	C	7: 19,584,307	I596V	unknown	Het
Clcn2	C	T	16: 20,712,180	V267I	probably damaging	Het
Cntln	T	A	4: 84,888,699	D139E	probably damaging	Het
Cyp2j12	A	C	4: 96,106,448	N379K	probably damaging	Het
Defb21	T	C	2: 152,574,784	V60A	possibly damaging	Het
Dnajc16	G	T	4: 141,766,707	S543*	probably null	Het
Efcab12	G	T	6: 115,823,703	H120N	probably benign	Het
Efl1	G	A	7: 82,762,953	G850D	probably benign	Het
Efna1	T	C	3: 89,276,328	M64V	probably benign	Het
Eif2ak3	T	C	6: 70,893,019	W897R	probably damaging	Het
Eif2ak4	T	A	2: 118,428,032	F621Y	probably damaging	Het
Erbin	C	A	13: 103,839,458	E643*	probably null	Het
Esr1	G	A	10: 4,857,176	W364*	probably null	Het
Fam171a2	T	C	11: 102,440,035	E206G	possibly damaging	Het
Fam90a1a	T	C	8: 21,961,413	F97L	probably benign	Het
Fap	A	T	2: 62,547,821	F181I	probably benign	Het
Fem1b	T	C	9: 62,797,634	N115D	probably damaging	Het
Gal3st2b	G	T	1: 93,940,931	A295S	probably benign	Het
Galnt10	G	A	11: 57,783,855		probably benign	Het
Gcfc2	T	C	6: 81,932,898	V224A	probably damaging	Het
Gh	T	C	11: 106,300,808	E136G	probably damaging	Het
Gjd3	C	T	11: 98,982,499	C173Y	probably damaging	Het
Gm11639	AACTCTA	AA	11: 104,915,427		probably null	Het
Gm12695	T	A	4: 96,762,809	M136L	probably benign	Het
Gm156	G	T	6: 129,768,121	H171N	probably benign	Het
Gnas	A	G	2: 174,299,484	E482G	unknown	Het
Gpa33	T	C	1: 166,152,782	L138P	probably damaging	Het
Hlf	T	C	11: 90,345,888	D181G	probably damaging	Het
Irgm1	A	G	11: 48,865,871	L387S	probably benign	Het
Kctd1	T	C	18: 14,969,688	E812G	possibly damaging	Het
Klra2	T	C	6: 131,228,251	E209G	probably benign	Het
Klra3	C	T	6: 130,335,769	V11M	probably benign	Het
Kmt2c	T	C	5: 25,298,887	S3808G	probably benign	Het
Krtap24-1	A	C	16: 88,612,000	S79R	probably benign	Het
Limch1	T	A	5: 67,033,132	H759Q	probably benign	Het
Map3k4	A	G	17: 12,271,546	Y333H	probably benign	Het
Mmel1	A	G	4: 154,889,634	Y377C	probably damaging	Het
Ms4a14	A	T	19: 11,303,749	Y482N	possibly damaging	Het
Myo9b	A	G	8: 71,349,031	S1277G	probably benign	Het
Nab1	T	C	1: 52,490,508	T77A	possibly damaging	Het
Obsl1	T	C	1: 75,506,197	S10G	probably benign	Het
Odc1	A	G	12: 17,548,328	T157A	possibly damaging	Het
Olfr448	T	G	6: 42,897,030	L193R	probably damaging	Het
Olfr917	T	C	9: 38,665,484	D120G	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Plpp1	T	A	13: 112,806,523		probably benign	Het
Prdm13	G	A	4: 21,679,125	A455V	possibly damaging	Het
Ptpn13	A	T	5: 103,591,235	Y2289F	probably damaging	Het
Ptpn18	G	T	1: 34,459,885	R21L	probably benign	Het
Ptprd	A	G	4: 75,998,499		probably null	Het
Rcn3	G	T	7: 45,083,671	D258E	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,579,907		probably benign	Het
Sacs	T	A	14: 61,192,446	H651Q	probably benign	Het
Sacs	T	C	14: 61,211,253	S3583P	probably damaging	Het
Serpinb2	A	T	1: 107,515,554	I28F	possibly damaging	Het
Sin3b	A	G	8: 72,746,503	K484E	probably benign	Het
Snrnp48	T	A	13: 38,216,421	V168D	probably damaging	Het
Snx18	T	G	13: 113,618,395	M1L	probably benign	Het
Srcap	T	A	7: 127,559,032	N2693K	unknown	Het
Stim1	A	G	7: 102,428,807	D172G		Het
Stip1	A	T	19: 7,025,319	L414H	probably damaging	Het
Sun1	A	G	5: 139,223,635	H40R	probably damaging	Het
Sva	T	A	6: 42,042,248	D117E	possibly damaging	Het
Syne2	A	G	12: 75,896,670	D321G	probably damaging	Het
Trim45	A	G	3: 100,928,078	D459G	probably damaging	Het
Trove2	C	T	1: 143,765,432		probably null	Het
Ttc6	G	A	12: 57,651,004	W43*	probably null	Het
Ugt2b35	A	G	5: 87,004,921	T317A	possibly damaging	Het
Usp32	C	T	11: 85,025,544	R858Q	probably damaging	Het
Vmn2r53	G	T	7: 12,600,825	Q303K	probably benign	Het
Yeats2	T	C	16: 20,150,562		probably null	Het
Zfp804a	A	G	2: 82,258,403	N859D	probably benign	Het
Zscan10	A	T	17: 23,605,606	Q12L	possibly damaging	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
IGL01396:Scel	APN	14	103608094	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TGTAGACAGCACCATCAGAGG -3'
(R):5'- AGTTCAGGAAGAGTACAGTATGTCTC -3'

Sequencing Primer
(F):5'- CCATCAGAGGGAATCCTACAGG -3'
(R):5'- AGAGTACAGTATGTCTCCTTGTTGAC -3'

Posted On

2021-08-02