Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Scel'

550946

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

MMRRC Submission

045194-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 103781268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 138 (W138*)

Ref Sequence

ENSEMBL: ENSMUSP00000093233 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

probably null
Transcript: ENSMUST00000095576
AA Change: W138*

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: W138*

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 null
Transcript: ENSMUST00000227322
AA Change: W138*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,215 (GRCm39)	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,744,072 (GRCm39)	S233A	probably benign	Het
Actr10	T	C	12: 70,999,805 (GRCm39)		probably null	Het
Acvr2b	C	T	9: 119,261,619 (GRCm39)	A380V	probably damaging	Het
Adcy5	A	G	16: 35,119,995 (GRCm39)	E1168G	probably damaging	Het
Akap12	C	T	10: 4,303,226 (GRCm39)	T117I	probably damaging	Het
Alox5	T	A	6: 116,390,429 (GRCm39)	Y516F	probably benign	Het
Amigo2	T	C	15: 97,143,741 (GRCm39)	N227S	probably damaging	Het
Anpep	C	A	7: 79,486,061 (GRCm39)	V554L	probably benign	Het
Ap5b1	T	A	19: 5,620,215 (GRCm39)	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,490,849 (GRCm39)	L326F	probably damaging	Het
Bltp1	T	G	3: 36,994,947 (GRCm39)	Y990D	probably damaging	Het
Cadps	C	T	14: 12,603,738 (GRCm38)	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,812,557 (GRCm39)	E66*	probably null	Het
Ccr6	G	A	17: 8,475,019 (GRCm39)	V75I	probably benign	Het
Cdk6	T	C	5: 3,570,709 (GRCm39)	F300S	probably damaging	Het
Cenpb	A	C	2: 131,020,799 (GRCm39)	V333G	probably damaging	Het
Clca4a	T	C	3: 144,667,670 (GRCm39)	I434V	probably benign	Het
Coro2b	T	A	9: 62,328,667 (GRCm39)	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,152,119 (GRCm39)	S86G	probably benign	Het
Cry2	C	A	2: 92,243,438 (GRCm39)	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,181,272 (GRCm39)	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,753,726 (GRCm39)	T48S	probably damaging	Het
Dennd10	T	A	19: 60,821,034 (GRCm39)	M272K	probably damaging	Het
Dip2c	A	G	13: 9,654,572 (GRCm39)	T727A	probably benign	Het
Dnai3	A	T	3: 145,761,459 (GRCm39)	S632R	possibly damaging	Het
Ebf4	A	T	2: 130,151,651 (GRCm39)	I183F	probably benign	Het
Elavl3	G	T	9: 21,930,025 (GRCm39)	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,352,105 (GRCm39)	L768Q	probably damaging	Het
Fat2	G	A	11: 55,174,260 (GRCm39)	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,896,606 (GRCm39)	A4E	possibly damaging	Het
Flg	T	A	3: 93,200,335 (GRCm39)	V277D	unknown	Het
Fndc3b	T	C	3: 27,524,383 (GRCm39)	D459G	possibly damaging	Het
Fras1	A	G	5: 96,718,900 (GRCm39)	Q438R	probably benign	Het
Glipr1l2	A	T	10: 111,928,330 (GRCm39)		probably null	Het
Gm7347	T	A	5: 26,262,382 (GRCm39)		probably null	Het
Grm6	G	A	11: 50,753,804 (GRCm39)	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,468,550 (GRCm39)	V496E	probably benign	Het
Ifna12	A	G	4: 88,521,388 (GRCm39)	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674 (GRCm39)	S550T	probably benign	Het
Irak2	G	T	6: 113,663,810 (GRCm39)	C453F	probably damaging	Het
Itih2	G	T	2: 10,110,574 (GRCm39)	Q506K	probably benign	Het
Kidins220	T	C	12: 25,107,662 (GRCm39)	I1614T	probably benign	Het
Krtap5-3	T	A	7: 141,755,992 (GRCm39)	C276*	probably null	Het
Lama3	T	A	18: 12,685,870 (GRCm39)	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,171,106 (GRCm39)	A27T	possibly damaging	Het
Lyplal1	A	G	1: 185,832,524 (GRCm39)	V77A	probably damaging	Het
Malrd1	A	T	2: 16,147,114 (GRCm39)	E1985D	unknown	Het
Mlx	A	C	11: 100,979,802 (GRCm39)	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,977,485 (GRCm39)	M1279K	probably benign	Het
Myh7b	A	G	2: 155,464,119 (GRCm39)	E540G	probably damaging	Het
Neb	T	A	2: 52,194,067 (GRCm39)	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517 (GRCm38)	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	T	A	19: 5,553,623 (GRCm39)	T53S	probably benign	Het
Ntpcr	T	A	8: 126,456,794 (GRCm39)	C5S	unknown	Het
Nwd1	A	G	8: 73,421,957 (GRCm39)	D1001G	probably damaging	Het
Or12j5	T	A	7: 140,084,229 (GRCm39)	T48S	probably benign	Het
Or14a256	C	T	7: 86,265,475 (GRCm39)	C126Y	probably benign	Het
Or4p22	T	A	2: 88,317,492 (GRCm39)	C139S	probably damaging	Het
Or6c208	A	C	10: 129,224,036 (GRCm39)	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,297,115 (GRCm39)	S564C	probably damaging	Het
Pax6	C	A	2: 105,522,604 (GRCm39)	P264T	probably damaging	Het
Plppr4	T	C	3: 117,116,832 (GRCm39)	R342G	probably damaging	Het
Prg4	C	T	1: 150,328,005 (GRCm39)	C220Y	probably damaging	Het
Prune2	T	A	19: 17,098,577 (GRCm39)	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,299,772 (GRCm39)	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,459 (GRCm39)	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,464,545 (GRCm39)	G146S	probably damaging	Het
Sbpl	T	A	17: 24,173,608 (GRCm39)	K55*	probably null	Het
Scgb2b19	T	C	7: 32,979,711 (GRCm39)	I12V	probably null	Het
Scn9a	T	A	2: 66,379,359 (GRCm39)	M358L	probably damaging	Het
Sdk2	C	A	11: 113,733,516 (GRCm39)	E924*	probably null	Het
Sipa1l3	T	C	7: 29,048,012 (GRCm39)	Q1292R	possibly damaging	Het
Skint4	G	A	4: 111,975,298 (GRCm39)	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,736,028 (GRCm39)	V57I	probably benign	Het
Slc9a4	T	C	1: 40,662,559 (GRCm39)	S609P	probably damaging	Het
Slc9a4	C	T	1: 40,619,799 (GRCm39)	P42S	probably benign	Het
Slitrk1	T	A	14: 109,150,061 (GRCm39)	T217S	probably benign	Het
Spindoc	C	T	19: 7,335,807 (GRCm39)	R327H	probably benign	Het
Stk36	T	C	1: 74,661,382 (GRCm39)	S470P	probably benign	Het
Sypl1	C	T	12: 33,024,254 (GRCm39)	P196L	probably benign	Het
Tekt4	T	A	17: 25,693,718 (GRCm39)	I285N	probably damaging	Het
Tgm5	T	A	2: 120,876,979 (GRCm39)	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,883,587 (GRCm39)	R933L	probably damaging	Het
Treml1	T	A	17: 48,673,700 (GRCm39)	I237N	probably damaging	Het
Txndc16	T	C	14: 45,442,839 (GRCm39)	I119V	probably benign	Het
Ubr3	C	A	2: 69,728,166 (GRCm39)	N176K	probably damaging	Het
Vit	A	G	17: 78,932,426 (GRCm39)	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,422,984 (GRCm39)	G994D	probably benign	Het
Wnk1	T	C	6: 119,925,268 (GRCm39)	T1648A	unknown	Het
Ythdf1	G	A	2: 180,553,315 (GRCm39)	T300I	probably damaging	Het
Zan	A	G	5: 137,452,462 (GRCm39)		probably null	Het
Zbbx	A	G	3: 75,019,401 (GRCm39)	L103P	probably benign	Het
Zfp105	A	G	9: 122,758,869 (GRCm39)	D180G	probably damaging	Het
Zfp114	T	A	7: 23,880,083 (GRCm39)	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,624,399 (GRCm39)	C256R	probably damaging	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
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
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'- GTGAAAGAGCAGTTCATCTGGG -3'
(R):5'- CTTCTCCAGGGTTCACAAAACTG -3'

Sequencing Primer
(F):5'- AATTGCCTGAAGTATAGGGTCCTTCC -3'
(R):5'- TCCAGGGTTCACAAAACTGTCATC -3'

Posted On

2019-05-15