Mutagenetix > Incidental Mutation

Incidental Mutation 'R6045:Scel'

483806

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

044213-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6045 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103592213 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 435 (C435R)

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: C455R

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: C455R

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: C435R

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	C	8: 79,229,367	Y87C	probably benign	Het
5530401A14Rik	A	G	11: 81,893,868		probably benign	Het
5830473C10Rik	A	T	5: 90,584,989	Q553L	possibly damaging	Het
Adamts5	T	C	16: 85,899,300	D323G	probably damaging	Het
Bicc1	G	A	10: 70,957,081	R248*	probably null	Het
Bivm	T	G	1: 44,119,073		probably benign	Het
Ccdc8	A	C	7: 16,996,031	T482P	unknown	Het
Ccnb2	T	C	9: 70,419,093	I21V	probably benign	Het
Cfap73	A	T	5: 120,631,712	I82N	probably damaging	Het
Chd3	A	C	11: 69,352,118	F1426V	possibly damaging	Het
Clcn2	A	T	16: 20,711,688		probably null	Het
Col6a5	T	C	9: 105,925,918	N1283D	unknown	Het
Cyp39a1	G	T	17: 43,731,991	G411W	probably damaging	Het
D130052B06Rik	A	T	11: 33,624,008	I202L	unknown	Het
Dlgap1	T	C	17: 70,818,098	L948P	probably damaging	Het
Dnah3	C	T	7: 119,967,522	V2494M	probably damaging	Het
Dysf	T	A	6: 84,114,072	V1076D	probably damaging	Het
Eif2ak4	C	A	2: 118,388,815	S36*	probably null	Het
Elmod3	C	T	6: 72,568,868	R297H	probably benign	Het
Epas1	C	A	17: 86,809,399	R166S	probably damaging	Het
Erv3	A	G	2: 131,856,022	L139P	probably damaging	Het
Fryl	A	G	5: 73,118,551	V90A	probably damaging	Het
Fxr2	A	G	11: 69,651,051	R439G	possibly damaging	Het
Gabrd	A	T	4: 155,386,474	V259D	possibly damaging	Het
Galnt10	A	G	11: 57,783,793	Y536C	probably damaging	Het
Gbp10	A	T	5: 105,218,403	L545Q	probably damaging	Het
Gfpt1	A	T	6: 87,085,257	I517F	probably damaging	Het
Glb1	T	C	9: 114,437,942	Y225H	probably damaging	Het
Gm1110	C	T	9: 26,883,209		probably null	Het
Gm14851	A	T	8: 21,095,232	C65S	possibly damaging	Het
Gm36028	G	T	16: 37,856,022	Q128K	probably benign	Het
Gmps	C	T	3: 63,980,137	P10L	probably benign	Het
Greb1l	T	A	18: 10,547,068	V1465D	probably damaging	Het
Helz2	A	G	2: 181,240,313	V229A	probably benign	Het
Hipk1	A	T	3: 103,746,902	L924Q	probably benign	Het
Ifngr1	T	G	10: 19,609,161	L303V	possibly damaging	Het
Kif22	T	C	7: 127,031,078	N429D	probably benign	Het
Ktn1	T	C	14: 47,676,796	Y401H	probably damaging	Het
Lars2	T	G	9: 123,371,988	I39S	probably damaging	Het
Lipf	C	T	19: 33,966,844	A151V	probably damaging	Het
Lrp1	A	T	10: 127,566,600	M2234K	probably damaging	Het
Lrp1b	A	G	2: 40,701,813	V56A	unknown	Het
Lyar	T	A	5: 38,234,008	H350Q	probably benign	Het
Mill2	A	T	7: 18,856,564	M190L	probably benign	Het
Morc3	A	G	16: 93,874,845	D921G	probably damaging	Het
Mpp2	G	T	11: 102,059,354	T558K	probably benign	Het
Myh4	A	G	11: 67,244,724	D379G	probably benign	Het
Neb	A	C	2: 52,194,425		probably null	Het
Nedd1	G	A	10: 92,695,100	R376*	probably null	Het
Nlrc4	T	G	17: 74,446,959	D143A	probably damaging	Het
Nol10	G	T	12: 17,348,478		probably benign	Het
Olfr1316	T	G	2: 112,130,536	I92L	possibly damaging	Het
Olfr1404	C	T	1: 173,216,500	T283I	possibly damaging	Het
Olfr1431	C	A	19: 12,210,295	A243D	probably damaging	Het
Olfr197	T	A	16: 59,186,091	T131S	probably benign	Het
Olfr652	C	T	7: 104,564,767	T182I	probably benign	Het
Opn1sw	A	G	6: 29,379,870	S122P	probably damaging	Het
Orm1	T	A	4: 63,344,692	I32N	possibly damaging	Het
Pcdhb5	T	A	18: 37,321,575	V336E	probably damaging	Het
Poli	C	T	18: 70,517,469	R363K	possibly damaging	Het
Rabgap1l	T	C	1: 160,645,323	E515G	probably benign	Het
Rem2	C	A	14: 54,477,768	T134N	probably damaging	Het
Rfc1	A	G	5: 65,279,549	I596T	probably damaging	Het
Ruvbl2	A	T	7: 45,425,009	I202N	probably damaging	Het
S100a6	T	A	3: 90,613,879	I38N	probably damaging	Het
Slc6a13	T	A	6: 121,321,628	W146R	probably damaging	Het
Sorcs1	T	A	19: 50,190,117	K856*	probably null	Het
Speer4e	T	G	5: 14,937,181	K70T	possibly damaging	Het
Sucla2	T	A	14: 73,568,964	C158*	probably null	Het
Tie1	G	A	4: 118,484,691	S187L	probably benign	Het
Tmem200a	T	C	10: 25,993,007	T455A	probably damaging	Het
Tra2a	A	G	6: 49,252,464		probably benign	Het
Tsnaxip1	A	C	8: 105,844,187	E615A	probably benign	Het
Tuba3b	T	A	6: 145,621,174	N380K	probably damaging	Het
Umod	C	T	7: 119,476,823	S240N	probably benign	Het
Vmn2r92	G	A	17: 18,168,043		probably null	Het
Vps13b	A	G	15: 35,671,316	E1655G	probably damaging	Het
Vwde	A	T	6: 13,219,936	I72N	probably damaging	Het
Wbp11	G	A	6: 136,821,535	A172V	probably damaging	Het
Zbtb41	T	A	1: 139,424,032	N294K	probably benign	Het
Zfhx4	T	A	3: 5,396,959	H1206Q	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
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

Predicted Primers

PCR Primer
(F):5'- TGATGTTCTCACAAACAACCAAAGG -3'
(R):5'- TAGGTTCACCTACCCATTTGTG -3'

Posted On

2017-07-14