Mutagenetix > Incidental Mutation

Incidental Mutation 'R6225:Scel'

504290

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

044356-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103591984 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 405 (F405L)

Ref Sequence

ENSEMBL: ENSMUSP00000154402 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

probably benign
Transcript: ENSMUST00000095576
AA Change: F425L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: F425L

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: F405L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	C	3: 36,948,304	V1466A	probably damaging	Het
Ace	A	G	11: 105,979,619	H288R	possibly damaging	Het
Adh1	T	C	3: 138,289,804	F323L	probably benign	Het
Adssl1	A	C	12: 112,634,403	H226P	probably damaging	Het
Ahrr	A	G	13: 74,222,912	S230P	possibly damaging	Het
Akap9	T	C	5: 3,962,105	V936A	probably damaging	Het
B4galnt2	A	G	11: 95,868,442	Y339H	probably damaging	Het
C4b	C	A	17: 34,738,874	G611V	possibly damaging	Het
Cacna1i	A	G	15: 80,321,226	M128V	probably damaging	Het
Chia1	T	C	3: 106,130,897	S370P	possibly damaging	Het
Cops6	T	C	5: 138,161,411	V9A	possibly damaging	Het
D3Ertd254e	T	C	3: 36,166,203	F792L	probably benign	Het
D630003M21Rik	A	T	2: 158,217,401	I193K	probably benign	Het
Daam2	T	C	17: 49,494,439	D90G	probably damaging	Het
Fads3	A	G	19: 10,041,838	D36G	probably benign	Het
Fam185a	T	C	5: 21,425,556	V130A	probably damaging	Het
Fbn1	A	T	2: 125,330,543	N1928K	probably damaging	Het
Fstl3	A	G	10: 79,780,009	M110V	probably benign	Het
G2e3	A	G	12: 51,369,136	T552A	possibly damaging	Het
Gfra1	G	A	19: 58,238,398	T462I	probably damaging	Het
Glrx2	T	A	1: 143,745,383		probably benign	Het
Gm10100	G	T	10: 77,726,664	C60F	possibly damaging	Het
Gm43302	T	A	5: 105,277,739	K275*	probably null	Het
Gm6569	A	G	15: 73,839,791		probably benign	Het
Herc6	G	T	6: 57,662,154	V867L	possibly damaging	Het
Hhipl2	T	A	1: 183,428,551		probably null	Het
Kcnj16	A	T	11: 111,025,552	K347*	probably null	Het
Kcnt2	T	A	1: 140,426,923	C305*	probably null	Het
Large2	A	G	2: 92,366,480	L477P	probably damaging	Het
Lnpep	T	C	17: 17,578,983	T137A	possibly damaging	Het
Mettl3	T	C	14: 52,296,758		probably null	Het
Mical3	C	T	6: 120,958,723	S1614N	probably damaging	Het
Morc3	C	A	16: 93,845,194	Y100*	probably null	Het
Mrc2	A	G	11: 105,346,820	K1108R	probably benign	Het
Mrpl2	T	C	17: 46,649,909	V243A	probably damaging	Het
Mtor	T	A	4: 148,521,337	N1505K	probably benign	Het
Mut	T	A	17: 40,938,731	V199E	possibly damaging	Het
Myo1g	A	T	11: 6,519,168	Y45N	probably damaging	Het
Nckap5l	C	A	15: 99,428,024	L199F	possibly damaging	Het
Ndufc2	A	G	7: 97,406,892	T66A	probably damaging	Het
Nos1	T	A	5: 117,912,852	H779Q	probably damaging	Het
Olfr1148	A	G	2: 87,833,317	T93A	probably benign	Het
Olfr1264	A	G	2: 90,021,229		probably null	Het
Olfr180	T	C	16: 58,916,182	N153S	probably benign	Het
Olfr221	C	A	14: 52,035,368	V248L	possibly damaging	Het
Olfr382	T	C	11: 73,517,005	N65D	probably damaging	Het
Olfr615	A	T	7: 103,561,282	R268S	probably benign	Het
Olfr71	T	C	4: 43,705,698	Y290C	probably damaging	Het
Otog	C	T	7: 46,249,034	T192I	possibly damaging	Het
Oxct1	T	C	15: 4,035,330	V50A	probably benign	Het
P3h2	T	A	16: 25,965,743	D667V	probably damaging	Het
Pcdhb20	A	G	18: 37,504,994	Y191C	probably damaging	Het
Pds5b	T	G	5: 150,746,618	V357G	probably damaging	Het
Pggt1b	A	G	18: 46,274,607	V81A	possibly damaging	Het
Phxr2	A	G	10: 99,126,181		probably benign	Het
Pnpt1	T	C	11: 29,145,469	I406T	probably benign	Het
Ppat	T	C	5: 76,922,355	I173V	probably damaging	Het
Proser3	T	C	7: 30,543,728	S167G	probably damaging	Het
Rnf135	A	C	11: 80,189,227	T115P	possibly damaging	Het
Rpl22	C	T	4: 152,330,079	R65C	probably benign	Het
Serinc3	A	G	2: 163,627,879	Y350H	probably damaging	Het
Slc25a16	C	A	10: 62,928,323	T53K	probably damaging	Het
Slco1a1	A	T	6: 141,924,489	F308I	possibly damaging	Het
Slitrk5	GACTAC	GACTACTAC	14: 111,679,816		probably benign	Het
Smok3c	T	C	5: 138,065,052	V267A	probably benign	Het
Ssrp1	A	G	2: 85,042,814	D473G	probably benign	Het
Svs6	A	G	2: 164,317,485	E56G	possibly damaging	Het
Tas2r130	TCATTTC	T	6: 131,630,584		probably benign	Het
Thoc3	T	C	13: 54,467,972	N93S	probably benign	Het
Tle6	A	G	10: 81,592,766	C443R	probably damaging	Het
Tmed6	A	G	8: 107,061,739	F192S	probably damaging	Het
Tpx2	A	G	2: 152,876,628	N184D	probably benign	Het
Vmn2r31	T	A	7: 7,394,639	N207Y	probably benign	Het
Zfp709	TCGACG	TCG	8: 71,890,708		probably benign	Het
Zfp972	A	T	2: 177,907,324		probably null	Het
Zzef1	G	A	11: 72,869,805	C1318Y	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
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

Predicted Primers

PCR Primer
(F):5'- GCAGAGCAAGTTCTGAGCATAG -3'
(R):5'- TGGTGCTGTCTACATCATGG -3'

Sequencing Primer
(F):5'- AGCAAGTTCTGAGCATAGTTCGTC -3'
(R):5'- GCTGTCTACATCATGGTTTCTG -3'

Posted On

2018-02-28