Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Scel'

646703

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8376 (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 G at 103572015 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 264 (S264G)

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: S264G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: S264G

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: S264G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064	A255S	probably benign	Het
Adam32	A	C	8: 24,919,920	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,782,955	D599G	probably damaging	Het
Alkal2	G	T	12: 30,884,851	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Apba2	T	A	7: 64,695,593	V177D	probably benign	Het
Atp12a	G	T	14: 56,374,626		probably null	Het
Birc6	C	T	17: 74,589,640	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,867,356	R536H	probably damaging	Het
Brms1l	C	A	12: 55,841,629	N67K	probably benign	Het
Cachd1	G	A	4: 100,974,876	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,464,653	Q238*	probably null	Het
Cdc42	G	A	4: 137,328,894	T102I	probably benign	Het
Cfhr1	A	C	1: 139,547,811	C307W	unknown	Het
Ddb1	G	A	19: 10,619,305	V463M	probably damaging	Het
Dhx30	G	A	9: 110,088,639	R365C	probably benign	Het
Dnah1	A	G	14: 31,301,346	F1005L	probably damaging	Het
Elp4	A	G	2: 105,842,308	V144A	probably benign	Het
Enpp2	T	A	15: 54,910,095	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,233,038	V317I	possibly damaging	Het
Gc	G	A	5: 89,438,259	Q341*	probably null	Het
Gpt2	A	T	8: 85,493,065	I47F	probably benign	Het
Ino80	A	T	2: 119,442,487	S503T	probably benign	Het
Kcnn4	C	A	7: 24,377,626	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,643,927	S37P	unknown	Het
Lrrc4b	T	C	7: 44,462,594	V630A	probably benign	Het
Man2a2	C	T	7: 80,360,923	W773*	probably null	Het
Mgrn1	T	A	16: 4,915,766	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,214,171	V52A	probably benign	Het
Myc	A	T	15: 61,987,546	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,643,655	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,374,384	N493D	probably damaging	Het
Olfr692	C	A	7: 105,368,640	P105T	probably benign	Het
Osbpl10	G	A	9: 115,223,593	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,689,616	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,481,221	I703V	possibly damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788		probably benign	Het
Plcb3	A	G	19: 6,966,703	S36P	probably damaging	Het
Plk5	T	C	10: 80,360,345	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,637,655	E99D	probably benign	Het
Rnf4	C	T	5: 34,351,357	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,579,917		probably benign	Het
Sdk1	A	G	5: 142,158,621	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,480,703	Y255H	probably benign	Het
Syne1	C	T	10: 5,043,615	G525D	probably benign	Het
Taldo1	T	C	7: 141,401,875	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,901,409	T428A	probably damaging	Het
Tlr6	T	C	5: 64,955,112	K151E	probably benign	Het
Ubr2	T	A	17: 46,942,795	D1468V	probably benign	Het
Ubtf	A	C	11: 102,308,911	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,337,715	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,146,870	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,304,968	V296D	probably damaging	Het
Zfp65	A	C	13: 67,708,918	Y81D	probably damaging	Het
Zw10	A	T	9: 49,077,483	Y683F	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
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

Predicted Primers

PCR Primer
(F):5'- GGCAGTGCACATTTGGTTAAG -3'
(R):5'- CACCTAGGTTGCACACTTCTTATG -3'

Sequencing Primer
(F):5'- GACATAATTGCCCGGAATGATCTCTG -3'
(R):5'- TGACTAGGTCACTGACATCATGACG -3'

Posted On

2020-09-02