Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Scel'

359369

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

042024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103513342-103612797 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103572037 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 271 (M271K)

Ref Sequence

ENSEMBL: ENSMUSP00000154402 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095576
AA Change: M271K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: M271K

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: M271K

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

Meta Mutation Damage Score

0.1806

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,227,819 (GRCm38)		noncoding transcript	Het
Acp2	A	T	2: 91,210,723 (GRCm38)	R419W	probably benign	Het
Actr5	A	G	2: 158,628,071 (GRCm38)	N207S	probably damaging	Het
Afap1	G	A	5: 35,961,782 (GRCm38)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,189,611 (GRCm38)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,519,077 (GRCm38)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,216,772 (GRCm38)		noncoding transcript	Het
Carf	A	G	1: 60,109,318 (GRCm38)	T58A	probably benign	Het
Carns1	A	G	19: 4,170,928 (GRCm38)		probably benign	Het
Ccp110	T	A	7: 118,724,548 (GRCm38)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,883 (GRCm38)	D1218E	probably benign	Het
Chrna9	A	T	5: 65,967,871 (GRCm38)	T52S	probably damaging	Het
Chst9	T	C	18: 15,452,777 (GRCm38)	Y243C	probably damaging	Het
Clk2	A	T	3: 89,168,709 (GRCm38)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,060,317 (GRCm38)	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,421,406 (GRCm38)	D369N	probably benign	Het
Crhr2	G	T	6: 55,091,305 (GRCm38)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,249,521 (GRCm38)	I33F	probably damaging	Het
Dbt	T	C	3: 116,539,132 (GRCm38)	I200T	probably damaging	Het
Ddhd1	A	T	14: 45,628,821 (GRCm38)		probably benign	Het
Ddx27	A	G	2: 167,029,299 (GRCm38)	I480V	probably benign	Het
Dpp9	A	C	17: 56,198,970 (GRCm38)		probably null	Het
Dpy19l3	A	T	7: 35,703,501 (GRCm38)	M562K	probably damaging	Het
Dus3l	T	C	17: 56,767,868 (GRCm38)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,831,568 (GRCm38)	Q96*	probably null	Het
Egfr	T	C	11: 16,869,231 (GRCm38)	F254L	probably damaging	Het
Eml5	C	T	12: 98,798,852 (GRCm38)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,691,195 (GRCm38)	Y62*	probably null	Het
Erbb4	T	C	1: 68,343,900 (GRCm38)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,004,552 (GRCm38)		noncoding transcript	Het
H2-M9	G	T	17: 36,640,739 (GRCm38)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,689,595 (GRCm38)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,564,219 (GRCm38)	I259V	probably benign	Het
Ick	A	G	9: 78,150,654 (GRCm38)	T162A	probably damaging	Het
Insm1	A	T	2: 146,222,902 (GRCm38)	T213S	probably benign	Het
Iqca	T	C	1: 90,077,822 (GRCm38)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,406,015 (GRCm38)		probably benign	Het
Kdm7a	G	C	6: 39,152,839 (GRCm38)	L468V	possibly damaging	Het
Lck	G	A	4: 129,555,984 (GRCm38)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,787,727 (GRCm38)	L265P	probably damaging	Het
Lipa	T	A	19: 34,501,634 (GRCm38)	K229*	probably null	Het
Lrrk1	C	T	7: 66,306,873 (GRCm38)	S418N	probably benign	Het
Mark2	A	G	19: 7,281,232 (GRCm38)	V126A	probably damaging	Het
Met	T	C	6: 17,491,541 (GRCm38)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,426,799 (GRCm38)	K85M	probably damaging	Het
Mst1	A	G	9: 108,080,521 (GRCm38)	R15G	probably benign	Het
Muc6	T	G	7: 141,640,159 (GRCm38)		probably benign	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 31,998,602 (GRCm38)	S514G	probably damaging	Het
Narfl	A	T	17: 25,781,309 (GRCm38)	H322L	probably damaging	Het
Nars	T	C	18: 64,516,427 (GRCm38)	E11G	probably benign	Het
Ogdh	T	A	11: 6,297,044 (GRCm38)	F23I	probably benign	Het
Olfr1121	T	C	2: 87,372,321 (GRCm38)	I263T	probably damaging	Het
Olfr1186	C	T	2: 88,526,225 (GRCm38)	S214F	probably damaging	Het
Olfr1238	C	T	2: 89,406,486 (GRCm38)	V198I	probably benign	Het
Olfr1272	A	G	2: 90,282,381 (GRCm38)	S65P	probably damaging	Het
Olfr584	C	T	7: 103,085,914 (GRCm38)	A127V	probably damaging	Het
Olfr825	T	A	10: 130,162,838 (GRCm38)	T163S	probably benign	Het
Olfr979	A	T	9: 40,000,422 (GRCm38)	D268E	probably damaging	Het
Otub2	T	A	12: 103,392,844 (GRCm38)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,957,012 (GRCm38)	R143G	probably benign	Het
Patl2	T	A	2: 122,125,306 (GRCm38)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,145,899 (GRCm38)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 95,004,338 (GRCm38)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,266,790 (GRCm38)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,563,959 (GRCm38)	S215L	probably benign	Het
Psmd2	T	G	16: 20,659,815 (GRCm38)		probably benign	Het
Ptpn21	T	C	12: 98,708,844 (GRCm38)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,279,497 (GRCm38)		probably null	Het
Senp3	A	T	11: 69,678,829 (GRCm38)	C310*	probably null	Het
Slc25a3	T	C	10: 91,122,188 (GRCm38)	T97A	possibly damaging	Het
Srsf11	A	T	3: 158,026,732 (GRCm38)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,402,878 (GRCm38)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,148,648 (GRCm38)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm38)	N1471S	probably benign	Het
Tnn	T	G	1: 160,146,089 (GRCm38)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,251,286 (GRCm38)		probably benign	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,735,948 (GRCm38)		probably benign	Het
Ulk4	G	A	9: 121,073,872 (GRCm38)	Q1180*	probably null	Het
Usp43	T	A	11: 67,855,505 (GRCm38)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,194,339 (GRCm38)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,553,645 (GRCm38)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,409,963 (GRCm38)	D118G	probably damaging	Het
Vwce	A	G	19: 10,650,579 (GRCm38)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,146,154 (GRCm38)	R561L	probably benign	Het
Zfp956	T	C	6: 47,962,542 (GRCm38)	S175P	probably damaging	Het

Other mutations in Scel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Scel	APN	14	103,529,995 (GRCm38)	missense	probably benign	0.01
IGL00913:Scel	APN	14	103,581,809 (GRCm38)	missense	probably benign	0.35
IGL01086:Scel	APN	14	103,612,391 (GRCm38)	missense	probably benign	0.05
IGL01352:Scel	APN	14	103,533,338 (GRCm38)	missense	possibly damaging	0.54
IGL01396:Scel	APN	14	103,608,094 (GRCm38)	splice site	probably benign
IGL01954:Scel	APN	14	103,603,242 (GRCm38)	splice site	probably benign
IGL02064:Scel	APN	14	103,533,326 (GRCm38)	missense	probably damaging	0.98
IGL02186:Scel	APN	14	103,564,821 (GRCm38)	missense	probably benign	0.23
IGL02475:Scel	APN	14	103,537,008 (GRCm38)	missense	possibly damaging	0.95
IGL02926:Scel	APN	14	103,576,247 (GRCm38)	nonsense	probably null
IGL03122:Scel	APN	14	103,599,406 (GRCm38)	missense	possibly damaging	0.66
IGL03135:Scel	APN	14	103,586,514 (GRCm38)	missense	probably benign	0.02
PIT4585001:Scel	UTSW	14	103,592,368 (GRCm38)	missense	possibly damaging	0.90
R0346:Scel	UTSW	14	103,529,984 (GRCm38)	missense	probably damaging	1.00
R0394:Scel	UTSW	14	103,562,518 (GRCm38)	missense	probably benign	0.15
R0418:Scel	UTSW	14	103,603,254 (GRCm38)	missense	probably benign
R0635:Scel	UTSW	14	103,583,139 (GRCm38)	critical splice donor site	probably null
R0815:Scel	UTSW	14	103,586,480 (GRCm38)	missense	possibly damaging	0.83
R0863:Scel	UTSW	14	103,586,480 (GRCm38)	missense	possibly damaging	0.83
R0990:Scel	UTSW	14	103,581,832 (GRCm38)	missense	possibly damaging	0.55
R1084:Scel	UTSW	14	103,564,843 (GRCm38)	critical splice donor site	probably null
R1641:Scel	UTSW	14	103,533,316 (GRCm38)	missense	probably damaging	1.00
R2001:Scel	UTSW	14	103,610,790 (GRCm38)	missense	possibly damaging	0.66
R2002:Scel	UTSW	14	103,541,985 (GRCm38)	missense	probably damaging	1.00
R2341:Scel	UTSW	14	103,608,170 (GRCm38)	missense	possibly damaging	0.92
R3425:Scel	UTSW	14	103,608,106 (GRCm38)	missense	possibly damaging	0.92
R3836:Scel	UTSW	14	103,592,386 (GRCm38)	missense	possibly damaging	0.66
R4035:Scel	UTSW	14	103,530,004 (GRCm38)	missense	probably damaging	1.00
R4197:Scel	UTSW	14	103,599,400 (GRCm38)	missense	probably damaging	0.97
R4801:Scel	UTSW	14	103,583,100 (GRCm38)	missense	probably benign	0.01
R4802:Scel	UTSW	14	103,583,100 (GRCm38)	missense	probably benign	0.01
R5369:Scel	UTSW	14	103,586,493 (GRCm38)	missense	probably benign	0.00
R5555:Scel	UTSW	14	103,602,206 (GRCm38)	missense	probably benign	0.27
R5582:Scel	UTSW	14	103,583,139 (GRCm38)	critical splice donor site	probably benign
R5931:Scel	UTSW	14	103,605,624 (GRCm38)	nonsense	probably null
R5978:Scel	UTSW	14	103,529,254 (GRCm38)	splice site	probably null
R6045:Scel	UTSW	14	103,592,213 (GRCm38)	missense	probably benign	0.12
R6062:Scel	UTSW	14	103,585,136 (GRCm38)	missense	possibly damaging	0.82
R6218:Scel	UTSW	14	103,572,042 (GRCm38)	missense	probably benign	0.12
R6225:Scel	UTSW	14	103,591,984 (GRCm38)	missense	probably benign	0.27
R7102:Scel	UTSW	14	103,543,832 (GRCm38)	nonsense	probably null
R7349:Scel	UTSW	14	103,543,879 (GRCm38)	missense	probably benign	0.11
R8376:Scel	UTSW	14	103,572,015 (GRCm38)	missense	probably benign	0.02
R8924:Scel	UTSW	14	103,592,371 (GRCm38)	missense	possibly damaging	0.66
R9014:Scel	UTSW	14	103,585,139 (GRCm38)	missense	probably benign
R9130:Scel	UTSW	14	103,533,310 (GRCm38)	missense	probably benign	0.05
R9135:Scel	UTSW	14	103,602,190 (GRCm38)	missense	probably benign
R9179:Scel	UTSW	14	103,574,400 (GRCm38)	missense	possibly damaging	0.79
R9614:Scel	UTSW	14	103,605,596 (GRCm38)	missense	probably damaging	1.00
R9638:Scel	UTSW	14	103,541,973 (GRCm38)	missense	possibly damaging	0.89
R9672:Scel	UTSW	14	103,599,402 (GRCm38)	missense	possibly damaging	0.82
R9719:Scel	UTSW	14	103,572,006 (GRCm38)	critical splice acceptor site	probably null
X0026:Scel	UTSW	14	103,591,993 (GRCm38)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- ACATAATTGCCCGGAATGATCTC -3'
(R):5'- CCTAGGTTGCACACTTCTTATGG -3'

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

Posted On

2015-11-11