Mutagenetix > Incidental Mutation

Incidental Mutation 'R4801:Scel'

472898

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

042423-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103820536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 348 (T348P)

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: T368P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: T368P

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: T348P

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (88/89)

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: 164 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	A	G	10: 28,859,922 (GRCm39)		probably null	Het
Aadacl3	A	G	4: 144,182,802 (GRCm39)	I222T	probably damaging	Het
Abca13	G	T	11: 9,472,341 (GRCm39)	G4249V	possibly damaging	Het
Abcb10	A	G	8: 124,693,266 (GRCm39)	V346A	probably benign	Het
Abcc2	A	T	19: 43,807,800 (GRCm39)	I814F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd28	A	C	14: 31,458,787 (GRCm39)	D335E	probably damaging	Het
Ankrd44	T	C	1: 54,801,475 (GRCm39)	H284R	probably damaging	Het
Arfgef3	G	T	10: 18,467,654 (GRCm39)	Q1849K	probably benign	Het
Atp2c2	T	C	8: 120,474,426 (GRCm39)	M490T	probably damaging	Het
Bach1	T	A	16: 87,519,340 (GRCm39)	D543E	probably damaging	Het
Bahcc1	G	A	11: 120,173,051 (GRCm39)	V1558I	probably benign	Het
Bbs5	T	A	2: 69,485,958 (GRCm39)	W168R	probably damaging	Het
Bcar3	A	T	3: 122,323,243 (GRCm39)	D766V	probably benign	Het
C1ra	A	G	6: 124,490,727 (GRCm39)	D40G	probably benign	Het
Ccdc138	G	A	10: 58,409,465 (GRCm39)	C598Y	probably damaging	Het
Cd200r3	T	A	16: 44,778,188 (GRCm39)	N197K	possibly damaging	Het
Cenpf	T	A	1: 189,383,417 (GRCm39)	E2634D	probably damaging	Het
Cisd2	T	C	3: 135,116,902 (GRCm39)	K63R	probably damaging	Het
Clca3a2	A	T	3: 144,513,112 (GRCm39)	S478T	possibly damaging	Het
Clptm1l	T	C	13: 73,755,981 (GRCm39)	M199T	possibly damaging	Het
Cntnap4	T	A	8: 113,500,222 (GRCm39)	S505T	possibly damaging	Het
Cr2	C	T	1: 194,845,619 (GRCm39)	G112D	probably damaging	Het
Crb2	T	A	2: 37,683,768 (GRCm39)	I1090N	probably benign	Het
Csmd3	G	T	15: 47,484,688 (GRCm39)	P3057Q	probably damaging	Het
Ctso	G	A	3: 81,861,547 (GRCm39)	V307I	probably damaging	Het
Cyp3a41b	T	A	5: 145,510,461 (GRCm39)	T138S	probably benign	Het
Dctn3	G	T	4: 41,719,904 (GRCm39)	Y67*	probably null	Het
Dennd4c	C	A	4: 86,738,121 (GRCm39)	Y918*	probably null	Het
Dlg5	C	T	14: 24,204,757 (GRCm39)	G1262D	probably damaging	Het
Dnaaf1	G	A	8: 120,304,100 (GRCm39)	G46D	probably benign	Het
Dnah6	A	G	6: 73,066,681 (GRCm39)	V2563A	probably damaging	Het
Dnajc13	A	G	9: 104,052,926 (GRCm39)	Y1679H	probably benign	Het
Eif2ak3	T	C	6: 70,864,877 (GRCm39)	Y578H	probably benign	Het
Endod1	C	T	9: 14,268,319 (GRCm39)	V389M	probably benign	Het
Ephb4	T	C	5: 137,363,768 (GRCm39)	L582P	probably damaging	Het
Eps15	T	C	4: 109,181,414 (GRCm39)	L316S	possibly damaging	Het
Erbb4	G	T	1: 68,369,405 (GRCm39)	T412K	probably damaging	Het
Fam117a	T	A	11: 95,254,896 (GRCm39)	F90I	probably damaging	Het
Fam187b	T	G	7: 30,676,515 (GRCm39)	V8G	possibly damaging	Het
Far1	T	A	7: 113,138,660 (GRCm39)	I59N	possibly damaging	Het
Fbxo34	T	A	14: 47,768,326 (GRCm39)	L562Q	probably damaging	Het
Frem1	T	A	4: 82,834,865 (GRCm39)		probably benign	Het
Gfra3	G	T	18: 34,853,245 (GRCm39)	P10Q	probably damaging	Het
Gm19965	T	A	1: 116,749,626 (GRCm39)	Y436N	probably benign	Het
Gm5799	A	T	14: 43,782,005 (GRCm39)	H59L	probably damaging	Het
Gmppb	T	A	9: 107,927,416 (GRCm39)	V121E	probably benign	Het
Ighv7-4	G	C	12: 114,186,899 (GRCm39)		probably benign	Het
Ipo4	A	G	14: 55,868,671 (GRCm39)	S446P	probably damaging	Het
Itpr2	T	C	6: 146,272,829 (GRCm39)	T855A	probably damaging	Het
Jaml	T	C	9: 45,012,362 (GRCm39)	I283T	possibly damaging	Het
Kcnn2	T	C	18: 45,818,334 (GRCm39)		probably benign	Het
Klhl32	T	C	4: 24,649,698 (GRCm39)	Y399C	possibly damaging	Het
Litafd	A	G	16: 8,501,209 (GRCm39)	T22A	unknown	Het
Lratd2	C	A	15: 60,695,793 (GRCm39)		probably benign	Het
Lrriq1	G	A	10: 103,057,179 (GRCm39)	T207I	probably benign	Het
Lrriq3	A	T	3: 154,893,607 (GRCm39)	H436L	probably benign	Het
Mad2l1bp	T	C	17: 46,459,189 (GRCm39)	K114E	possibly damaging	Het
Mamstr	T	C	7: 45,291,842 (GRCm39)	V64A	possibly damaging	Het
Map4	T	A	9: 109,864,325 (GRCm39)	S517T	probably benign	Het
Matn1	A	T	4: 130,677,336 (GRCm39)	I182F	possibly damaging	Het
Mcm3	A	G	1: 20,880,380 (GRCm39)	I484T	probably damaging	Het
Med13	T	A	11: 86,169,599 (GRCm39)	I1922F	probably damaging	Het
Metap2	A	G	10: 93,704,757 (GRCm39)	V137A	probably damaging	Het
Mex3d	A	G	10: 80,222,788 (GRCm39)	V156A	possibly damaging	Het
Mfsd6	G	A	1: 52,748,755 (GRCm39)	P37S	probably benign	Het
Mmut	A	G	17: 41,248,242 (GRCm39)	T90A	probably benign	Het
Mrgprx1	A	C	7: 47,670,959 (GRCm39)	S263A	possibly damaging	Het
Mrtfa	T	C	15: 80,989,000 (GRCm39)	E7G	probably benign	Het
Msantd5f6	C	T	4: 73,319,504 (GRCm39)	W80*	probably null	Het
Msl1	C	T	11: 98,694,795 (GRCm39)	R505*	probably null	Het
Mta2	T	C	19: 8,923,215 (GRCm39)	S96P	probably damaging	Het
Mtr	A	T	13: 12,210,137 (GRCm39)	N986K	probably benign	Het
Mutyh	C	T	4: 116,674,226 (GRCm39)	T259I	probably benign	Het
Myof	T	C	19: 37,934,186 (GRCm39)	T908A	probably benign	Het
Nav2	A	T	7: 49,195,600 (GRCm39)	D992V	possibly damaging	Het
Neb	T	C	2: 52,090,715 (GRCm39)	T1352A	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Nudt6	G	A	3: 37,459,503 (GRCm39)	R161C	probably benign	Het
Olr1	A	G	6: 129,465,053 (GRCm39)	F141S	possibly damaging	Het
Oprl1	G	T	2: 181,361,046 (GRCm39)	M340I	probably benign	Het
Or10ag57	T	A	2: 87,218,553 (GRCm39)	V168E	probably benign	Het
Or10d1	T	G	9: 39,484,154 (GRCm39)	M134L	probably benign	Het
Or11g2	A	G	14: 50,856,479 (GRCm39)	T267A	probably benign	Het
Or14j1	T	C	17: 38,146,240 (GRCm39)	Y117H	probably damaging	Het
Or1e17	T	A	11: 73,831,696 (GRCm39)	I208K	possibly damaging	Het
Or2ak6	T	C	11: 58,592,617 (GRCm39)	V30A	probably benign	Het
Or2r2	A	T	6: 42,463,613 (GRCm39)	N171K	probably benign	Het
Or4f53	T	A	2: 111,087,497 (GRCm39)	F12L	probably damaging	Het
Or5d43	T	A	2: 88,105,223 (GRCm39)	M57L	probably damaging	Het
Or5g26	T	A	2: 85,494,622 (GRCm39)	D52V	probably damaging	Het
Or9s15	T	A	1: 92,524,720 (GRCm39)	C160S	probably benign	Het
Otogl	A	C	10: 107,737,197 (GRCm39)	C72W	probably damaging	Het
Pcdha11	T	A	18: 37,138,518 (GRCm39)	I49N	probably damaging	Het
Pcdha4	T	A	18: 37,087,008 (GRCm39)	L397*	probably null	Het
Pcdhb14	A	G	18: 37,581,331 (GRCm39)	S146G	probably benign	Het
Pclo	T	A	5: 14,725,829 (GRCm39)	H1562Q	unknown	Het
Pcsk9	T	C	4: 106,304,766 (GRCm39)	E434G	probably benign	Het
Phc2	A	G	4: 128,645,391 (GRCm39)	K833E	probably damaging	Het
Pja2	A	T	17: 64,599,857 (GRCm39)	S480R	probably damaging	Het
Pkd1	G	A	17: 24,797,070 (GRCm39)	G2493D	probably damaging	Het
Plk5	G	A	10: 80,195,138 (GRCm39)	V179M	possibly damaging	Het
Polr1a	G	A	6: 71,953,054 (GRCm39)	V1541I	probably benign	Het
Ppard	C	G	17: 28,505,348 (GRCm39)	R12G	unknown	Het
Ppp1r14a	A	G	7: 28,990,951 (GRCm39)	D73G	probably damaging	Het
Psd3	C	T	8: 68,573,800 (GRCm39)	R127H	probably benign	Het
Pten	G	T	19: 32,735,903 (GRCm39)	G20V	possibly damaging	Het
Ptprg	T	C	14: 11,554,233 (GRCm38)		probably benign	Het
Rad54l	T	C	4: 115,980,121 (GRCm39)	D21G	probably null	Het
Rgs14	T	C	13: 55,528,770 (GRCm39)	Y304H	probably damaging	Het
Rgs9	T	C	11: 109,131,694 (GRCm39)	K346R	probably damaging	Het
Rnf169	C	G	7: 99,575,653 (GRCm39)	G314A	probably damaging	Het
Rpgrip1l	T	A	8: 91,996,805 (GRCm39)	T692S	probably damaging	Het
Rtf1	T	C	2: 119,505,709 (GRCm39)	V54A	possibly damaging	Het
Rtn4	T	C	11: 29,658,660 (GRCm39)	V938A	probably benign	Het
Ryr2	T	A	13: 11,702,818 (GRCm39)	D2890V	probably damaging	Het
Ryr2	T	C	13: 11,723,113 (GRCm39)	T2509A	probably damaging	Het
Scgb1b2	G	T	7: 30,990,998 (GRCm39)	L37I	possibly damaging	Het
Sdf4	A	G	4: 156,085,178 (GRCm39)	H171R	possibly damaging	Het
Sec31a	A	G	5: 100,541,222 (GRCm39)	V295A	probably damaging	Het
Semp2l2a	T	A	8: 13,886,970 (GRCm39)	I374F	possibly damaging	Het
Setx	T	A	2: 29,036,385 (GRCm39)	S957T	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Six5	A	G	7: 18,830,894 (GRCm39)	N507S	probably benign	Het
Slc12a7	T	C	13: 73,912,011 (GRCm39)		probably null	Het
Slc1a7	T	A	4: 107,850,237 (GRCm39)	V116E	probably damaging	Het
Slc22a1	A	G	17: 12,894,422 (GRCm39)	L42P	probably damaging	Het
Slc25a31	A	T	3: 40,675,975 (GRCm39)	I174F	probably damaging	Het
Slc31a2	A	T	4: 62,210,869 (GRCm39)	M3L	probably damaging	Het
Slco1a4	T	A	6: 141,791,223 (GRCm39)		probably benign	Het
Smcr8	C	T	11: 60,669,436 (GRCm39)		probably null	Het
Smg5	G	T	3: 88,262,999 (GRCm39)	E801*	probably null	Het
Smgc	C	A	15: 91,738,819 (GRCm39)	H492Q	probably benign	Het
Smyd4	G	T	11: 75,294,010 (GRCm39)	G694V	probably damaging	Het
Sorcs3	A	G	19: 48,387,183 (GRCm39)	T223A	possibly damaging	Het
Stab1	G	T	14: 30,863,328 (GRCm39)	C2119*	probably null	Het
Taar9	A	G	10: 23,984,741 (GRCm39)	I231T	probably damaging	Het
Tacr2	A	G	10: 62,097,327 (GRCm39)	Y269C	probably damaging	Het
Taf3	T	G	2: 9,955,934 (GRCm39)	K744N	possibly damaging	Het
Tcstv1b	T	A	13: 120,634,758 (GRCm39)	S13R	probably benign	Het
Tenm4	T	A	7: 96,555,452 (GRCm39)	V2682E	probably damaging	Het
Tet1	A	C	10: 62,658,442 (GRCm39)	L1468R	probably damaging	Het
Tgds	T	C	14: 118,354,445 (GRCm39)		probably benign	Het
Tgfb2	A	T	1: 186,361,110 (GRCm39)	Y380*	probably null	Het
Tgm5	T	G	2: 120,882,953 (GRCm39)	K435Q	probably damaging	Het
Themis	A	G	10: 28,637,507 (GRCm39)	T204A	probably benign	Het
Tm4sf1	T	C	3: 57,202,100 (GRCm39)	Y37C	probably damaging	Het
Tmed2b	A	G	9: 33,640,068 (GRCm39)		noncoding transcript	Het
Tnn	T	C	1: 159,972,603 (GRCm39)	N333S	possibly damaging	Het
Tppp2	A	G	14: 52,156,805 (GRCm39)	N61D	probably benign	Het
Treml2	A	G	17: 48,616,187 (GRCm39)	T276A	probably benign	Het
Trit1	T	C	4: 122,910,431 (GRCm39)	V10A	probably benign	Het
Uba1y	T	G	Y: 825,890 (GRCm39)		probably null	Het
Uqcc1	T	C	2: 155,700,026 (GRCm39)		probably benign	Het
Vcam1	C	G	3: 115,909,584 (GRCm39)	G581A	probably damaging	Het
Vmn1r16	G	A	6: 57,300,175 (GRCm39)	T149I	probably benign	Het
Vmn1r209	T	C	13: 22,989,826 (GRCm39)	D288G	probably damaging	Het
Vmn1r78	T	A	7: 11,886,891 (GRCm39)	Y167*	probably null	Het
Vmn2r103	T	A	17: 20,015,338 (GRCm39)	S493T	probably benign	Het
Vmn2r105	T	A	17: 20,447,556 (GRCm39)	M423L	probably benign	Het
Vps13c	T	C	9: 67,871,564 (GRCm39)	F3244L	probably damaging	Het
Zfp119b	A	T	17: 56,246,642 (GRCm39)	D149E	probably damaging	Het
Zfp345	T	C	2: 150,315,228 (GRCm39)	Y103C	possibly damaging	Het
Zmym6	C	T	4: 127,017,009 (GRCm39)	T930I	probably benign	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
R0394:Scel	UTSW	14	103,799,954 (GRCm39)	missense	probably benign	0.15
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
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

Posted On

2017-04-14