Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Scel'

685866

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 #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103585139 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 396 (R396S)

Ref Sequence

ENSEMBL: ENSMUSP00000093233 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

probably benign
Transcript: ENSMUST00000095576
AA Change: R396S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: R396S

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
AA Change: R376S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,269,662	L649P	possibly damaging	Het
9530053A07Rik	A	G	7: 28,155,451	E1834G	probably damaging	Het
Aco2	A	G	15: 81,914,656	N746S	probably benign	Het
Ahnak2	T	C	12: 112,773,736	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,139,620	N1272K	possibly damaging	Het
Apc	G	T	18: 34,221,021		probably benign	Het
Arap1	A	G	7: 101,404,333	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,183,738	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,177,728	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,272,889	A671V	probably benign	Het
Bahcc1	T	C	11: 120,282,222	S1557P	probably benign	Het
Brca2	C	A	5: 150,541,754	T1661K	probably benign	Het
Casq1	T	A	1: 172,210,497	S356C	probably damaging	Het
Catsperg1	T	C	7: 29,206,641	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,913,064	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,322,259	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,986,158	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,736,970	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,687,396		probably null	Het
Dcaf8	T	C	1: 172,179,963	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,821,465	S997N	probably benign	Het
Dennd4c	A	C	4: 86,836,429	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,259,650	H632P	possibly damaging	Het
Dhx16	C	A	17: 35,882,598	R278S	probably benign	Het
Dsel	A	T	1: 111,860,779	Y675*	probably null	Het
Dsp	T	C	13: 38,192,724	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,620,757	N495I	possibly damaging	Het
Focad	T	A	4: 88,357,526	M1124K	unknown	Het
Foxi3	A	G	6: 70,960,831	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,075,905		probably benign	Het
Fsip2	C	A	2: 82,976,554	D1072E	probably benign	Het
Fsip2	T	G	2: 82,986,731	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,602,305	P363R	probably damaging	Het
Gm49383	A	C	12: 69,196,651	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,788,413	S104C	probably damaging	Het
Kat6a	A	G	8: 22,940,071	N1814S	unknown	Het
Kif18a	T	A	2: 109,293,069	H229Q	probably damaging	Het
Klk1b4	C	T	7: 44,209,674	R39C	probably benign	Het
Lgr6	T	C	1: 135,003,510	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,317,258	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,633	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,899,188	M1T	probably null	Het
Ms4a14	T	C	19: 11,301,507	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,289,959	D2179N	probably damaging	Het
Nfix	G	A	8: 84,721,776	T366M	possibly damaging	Het
Olfr1099	T	A	2: 86,958,691	I256F	probably benign	Het
Olfr504	A	G	7: 108,565,675	L40P	possibly damaging	Het
Olfr533	A	T	7: 140,465,970		probably benign	Het
Olfr913	T	C	9: 38,594,827	V202A	probably damaging	Het
Pear1	T	C	3: 87,751,172	Q964R	probably benign	Het
Pgk2	T	G	17: 40,207,796	E247A	probably benign	Het
Ppfia2	C	T	10: 106,927,805	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,350,623	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,118,683	H167Q	probably damaging	Het
Siae	T	C	9: 37,646,343	V482A	possibly damaging	Het
Skint2	A	G	4: 112,625,829	M144V	probably benign	Het
Slc23a3	A	G	1: 75,132,630	F219L	probably benign	Het
Slc4a4	G	T	5: 89,132,386	A348S	probably damaging	Het
Spin1	G	T	13: 51,127,974		probably null	Het
Tab2	G	A	10: 7,919,156	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,050	T4M	probably benign	Het
Tet2	T	A	3: 133,467,188	D1771V	probably damaging	Het
Tmprss15	T	C	16: 79,075,803	T172A	probably benign	Het
Trav7-6	A	G	14: 53,717,147	K65E	probably benign	Het
Txnrd3	A	G	6: 89,654,109	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,188,228	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,894,015	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,698,829	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,949,683	T423A	probably benign	Het
Zfp619	T	C	7: 39,537,822	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,592,155	Y664N	probably 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
R8924:Scel	UTSW	14	103592371	missense	possibly damaging	0.66
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'- AGGATTCAAGTCATGCTGGAG -3'
(R):5'- CGTGTATGATTATGGTGTCACAAG -3'

Sequencing Primer
(F):5'- CAAGTCATGCTGGAGTTTTGAATTAC -3'
(R):5'- GGTGTCACAAGAAATTTCTCAAGTAG -3'

Posted On

2021-10-11