Mutagenetix > Incidental Mutation

Incidental Mutation 'R0394:Scel'

31891

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

038600-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0394 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103799954 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 202 (E202V)

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: E202V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: E202V

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: E202V

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0643

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (79/80)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,773,065 (GRCm39)	S751R	probably damaging	Het
Abca8a	A	G	11: 109,917,169 (GRCm39)	V1610A	probably damaging	Het
Actl10	A	T	2: 154,394,957 (GRCm39)	H202L	probably benign	Het
Alox12	A	T	11: 70,136,761 (GRCm39)	V489E	probably damaging	Het
Ap4m1	T	A	5: 138,170,465 (GRCm39)	F5I	probably benign	Het
Atn1	T	C	6: 124,726,696 (GRCm39)		probably benign	Het
Atrnl1	T	A	19: 57,661,608 (GRCm39)	N529K	probably benign	Het
B3gntl1	C	T	11: 121,510,541 (GRCm39)	G336D	probably damaging	Het
Bmp1	G	A	14: 70,727,474 (GRCm39)	A703V	probably damaging	Het
Brat1	T	G	5: 140,704,141 (GRCm39)	L798R	probably damaging	Het
Cacna1c	C	T	6: 118,602,458 (GRCm39)	G1302R	probably damaging	Het
Cdr2	A	T	7: 120,557,954 (GRCm39)	D190E	probably benign	Het
Cenpe	T	C	3: 134,922,186 (GRCm39)		probably benign	Het
Clstn1	A	G	4: 149,728,635 (GRCm39)	D687G	probably benign	Het
Coro1a	A	G	7: 126,299,812 (GRCm39)	F337L	probably benign	Het
Ddx49	T	A	8: 70,749,575 (GRCm39)	I252F	probably damaging	Het
Dennd2a	T	A	6: 39,499,746 (GRCm39)	D273V	possibly damaging	Het
Derl2	A	T	11: 70,905,387 (GRCm39)	F32I	probably benign	Het
Dmrta1	A	G	4: 89,580,276 (GRCm39)	Y412C	probably damaging	Het
Dsg1a	A	G	18: 20,466,807 (GRCm39)	N559S	probably damaging	Het
Dusp26	G	T	8: 31,581,987 (GRCm39)	R27L	probably benign	Het
Eif2ak3	T	C	6: 70,862,202 (GRCm39)	I492T	probably benign	Het
Exoc7	G	T	11: 116,191,224 (GRCm39)	Q219K	probably damaging	Het
F2r	T	C	13: 95,740,984 (GRCm39)	T184A	probably damaging	Het
Fbf1	G	A	11: 116,043,288 (GRCm39)		probably benign	Het
Fbxo28	A	G	1: 182,144,580 (GRCm39)	M328T	probably benign	Het
Fsip2	T	A	2: 82,821,419 (GRCm39)	D5717E	possibly damaging	Het
Gnpat	C	A	8: 125,606,964 (GRCm39)	S373R	possibly damaging	Het
Golgb1	G	T	16: 36,695,941 (GRCm39)		probably benign	Het
Greb1l	T	C	18: 10,523,374 (GRCm39)	V844A	probably damaging	Het
Hps1	G	T	19: 42,759,338 (GRCm39)		probably null	Het
Inppl1	G	T	7: 101,477,402 (GRCm39)		probably benign	Het
Isca1	C	T	13: 59,906,699 (GRCm39)		probably null	Het
Itgb2	T	A	10: 77,378,309 (GRCm39)	C46S	probably damaging	Het
Kifc5b	C	T	17: 27,142,056 (GRCm39)	T178M	probably benign	Het
Krt80	T	C	15: 101,250,180 (GRCm39)	T22A	probably damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Ltbp2	C	T	12: 84,853,198 (GRCm39)		probably benign	Het
Mettl18	A	G	1: 163,823,910 (GRCm39)	D77G	probably benign	Het
Mfsd2a	A	G	4: 122,843,961 (GRCm39)	L336P	probably benign	Het
Mgat4b	A	G	11: 50,121,746 (GRCm39)		probably null	Het
Mtmr14	C	T	6: 113,257,649 (GRCm39)	R233*	probably null	Het
Nbea	T	C	3: 55,937,328 (GRCm39)	Y761C	probably damaging	Het
Neb	A	T	2: 52,067,571 (GRCm39)		probably null	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Obi1	T	C	14: 104,716,289 (GRCm39)	R695G	possibly damaging	Het
Or6c70	T	A	10: 129,709,811 (GRCm39)	I272L	probably benign	Het
Oxr1	T	A	15: 41,680,593 (GRCm39)	M177K	probably damaging	Het
Pgm2l1	A	G	7: 99,901,405 (GRCm39)	Y98C	probably damaging	Het
Pi4kb	G	T	3: 94,904,115 (GRCm39)		probably benign	Het
Pi4kb	G	A	3: 94,904,116 (GRCm39)		probably benign	Het
Pirb	T	A	7: 3,722,247 (GRCm39)	S199C	probably benign	Het
Prss23	A	C	7: 89,159,055 (GRCm39)	I338S	probably damaging	Het
Rapgef3	A	T	15: 97,655,700 (GRCm39)		probably benign	Het
Rdh7	T	A	10: 127,720,539 (GRCm39)	T278S	probably benign	Het
Rrp1b	A	G	17: 32,277,538 (GRCm39)	D606G	probably benign	Het
Rxfp1	T	A	3: 79,559,684 (GRCm39)	Y379F	possibly damaging	Het
Rxfp2	T	C	5: 149,990,853 (GRCm39)	V514A	probably benign	Het
Slc25a36	G	A	9: 96,962,257 (GRCm39)	A244V	probably benign	Het
Slc2a13	T	G	15: 91,400,595 (GRCm39)	Q209P	probably damaging	Het
Slc38a6	A	G	12: 73,399,304 (GRCm39)	N456S	probably benign	Het
Slc6a12	G	T	6: 121,323,957 (GRCm39)		probably null	Het
Spag6l	T	C	16: 16,598,493 (GRCm39)	I333V	probably benign	Het
Spen	G	A	4: 141,201,514 (GRCm39)	A2371V	probably benign	Het
St6galnac1	T	C	11: 116,657,466 (GRCm39)	D366G	probably damaging	Het
Stk33	T	C	7: 108,940,696 (GRCm39)	S5G	probably benign	Het
Tex56	T	C	13: 35,116,636 (GRCm39)		probably benign	Het
Tle2	T	C	10: 81,413,482 (GRCm39)	L84P	probably damaging	Het
Tmem14a	T	C	1: 21,296,876 (GRCm39)	M78T	probably damaging	Het
Top2b	T	A	14: 16,413,556 (GRCm38)		probably null	Het
Trmt13	A	G	3: 116,376,299 (GRCm39)	F364S	probably damaging	Het
Unkl	T	A	17: 25,449,751 (GRCm39)		probably null	Het
Uvrag	A	G	7: 98,653,926 (GRCm39)		probably benign	Het
Vmn2r8	T	A	5: 108,949,938 (GRCm39)	N303I	probably benign	Het
Vsig10l	A	G	7: 43,114,879 (GRCm39)	N360S	probably damaging	Het
Zdhhc25	T	C	15: 88,485,123 (GRCm39)	Y153H	probably damaging	Het
Zfp646	T	C	7: 127,482,434 (GRCm39)	V1537A	possibly damaging	Het
Zfp664	T	A	5: 124,963,129 (GRCm39)	Y174*	probably null	Het

Other mutations in Scel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Scel	APN	14	103,767,431 (GRCm39)	missense	probably benign	0.01
IGL00913:Scel	APN	14	103,819,245 (GRCm39)	missense	probably benign	0.35
IGL01086:Scel	APN	14	103,849,827 (GRCm39)	missense	probably benign	0.05
IGL01352:Scel	APN	14	103,770,774 (GRCm39)	missense	possibly damaging	0.54
IGL01396:Scel	APN	14	103,845,530 (GRCm39)	splice site	probably benign
IGL01954:Scel	APN	14	103,840,678 (GRCm39)	splice site	probably benign
IGL02064:Scel	APN	14	103,770,762 (GRCm39)	missense	probably damaging	0.98
IGL02186:Scel	APN	14	103,802,257 (GRCm39)	missense	probably benign	0.23
IGL02475:Scel	APN	14	103,774,444 (GRCm39)	missense	possibly damaging	0.95
IGL02926:Scel	APN	14	103,813,683 (GRCm39)	nonsense	probably null
IGL03122:Scel	APN	14	103,836,842 (GRCm39)	missense	possibly damaging	0.66
IGL03135:Scel	APN	14	103,823,950 (GRCm39)	missense	probably benign	0.02
PIT4585001:Scel	UTSW	14	103,829,804 (GRCm39)	missense	possibly damaging	0.90
R0346:Scel	UTSW	14	103,767,420 (GRCm39)	missense	probably damaging	1.00
R0418:Scel	UTSW	14	103,840,690 (GRCm39)	missense	probably benign
R0635:Scel	UTSW	14	103,820,575 (GRCm39)	critical splice donor site	probably null
R0815:Scel	UTSW	14	103,823,916 (GRCm39)	missense	possibly damaging	0.83
R0863:Scel	UTSW	14	103,823,916 (GRCm39)	missense	possibly damaging	0.83
R0990:Scel	UTSW	14	103,819,268 (GRCm39)	missense	possibly damaging	0.55
R1084:Scel	UTSW	14	103,802,279 (GRCm39)	critical splice donor site	probably null
R1641:Scel	UTSW	14	103,770,752 (GRCm39)	missense	probably damaging	1.00
R2001:Scel	UTSW	14	103,848,226 (GRCm39)	missense	possibly damaging	0.66
R2002:Scel	UTSW	14	103,779,421 (GRCm39)	missense	probably damaging	1.00
R2341:Scel	UTSW	14	103,845,606 (GRCm39)	missense	possibly damaging	0.92
R3425:Scel	UTSW	14	103,845,542 (GRCm39)	missense	possibly damaging	0.92
R3836:Scel	UTSW	14	103,829,822 (GRCm39)	missense	possibly damaging	0.66
R4035:Scel	UTSW	14	103,767,440 (GRCm39)	missense	probably damaging	1.00
R4197:Scel	UTSW	14	103,836,836 (GRCm39)	missense	probably damaging	0.97
R4737:Scel	UTSW	14	103,809,473 (GRCm39)	missense	possibly damaging	0.79
R4801:Scel	UTSW	14	103,820,536 (GRCm39)	missense	probably benign	0.01
R4802:Scel	UTSW	14	103,820,536 (GRCm39)	missense	probably benign	0.01
R5369:Scel	UTSW	14	103,823,929 (GRCm39)	missense	probably benign	0.00
R5555:Scel	UTSW	14	103,839,642 (GRCm39)	missense	probably benign	0.27
R5582:Scel	UTSW	14	103,820,575 (GRCm39)	critical splice donor site	probably benign
R5931:Scel	UTSW	14	103,843,060 (GRCm39)	nonsense	probably null
R5978:Scel	UTSW	14	103,766,690 (GRCm39)	splice site	probably null
R6045:Scel	UTSW	14	103,829,649 (GRCm39)	missense	probably benign	0.12
R6062:Scel	UTSW	14	103,822,572 (GRCm39)	missense	possibly damaging	0.82
R6218:Scel	UTSW	14	103,809,478 (GRCm39)	missense	probably benign	0.12
R6225:Scel	UTSW	14	103,829,420 (GRCm39)	missense	probably benign	0.27
R7102:Scel	UTSW	14	103,781,268 (GRCm39)	nonsense	probably null
R7349:Scel	UTSW	14	103,781,315 (GRCm39)	missense	probably benign	0.11
R8376:Scel	UTSW	14	103,809,451 (GRCm39)	missense	probably benign	0.02
R8924:Scel	UTSW	14	103,829,807 (GRCm39)	missense	possibly damaging	0.66
R9014:Scel	UTSW	14	103,822,575 (GRCm39)	missense	probably benign
R9130:Scel	UTSW	14	103,770,746 (GRCm39)	missense	probably benign	0.05
R9135:Scel	UTSW	14	103,839,626 (GRCm39)	missense	probably benign
R9179:Scel	UTSW	14	103,811,836 (GRCm39)	missense	possibly damaging	0.79
R9614:Scel	UTSW	14	103,843,032 (GRCm39)	missense	probably damaging	1.00
R9638:Scel	UTSW	14	103,779,409 (GRCm39)	missense	possibly damaging	0.89
R9672:Scel	UTSW	14	103,836,838 (GRCm39)	missense	possibly damaging	0.82
R9719:Scel	UTSW	14	103,809,442 (GRCm39)	critical splice acceptor site	probably null
X0026:Scel	UTSW	14	103,829,429 (GRCm39)	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- GGCCCTTCTTGGTACGGTAGAGATA -3'
(R):5'- TGCATTTGTGATGGTAAATCTTGCGAC -3'

Sequencing Primer
(F):5'- GCACCTTGTACATTTTAGATAGACC -3'
(R):5'- gaggcagaggcaggtgg -3'

Posted On

2013-04-24