Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00841:Scel'

13924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00841

Quality Score

Status

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103767431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 30 (Q30L)

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: Q30L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: Q30L

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: Q30L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	T	C	13: 96,554,338 (GRCm39)		probably benign	Het
Arl2	C	A	19: 6,185,999 (GRCm39)		probably benign	Het
Atp8b4	A	G	2: 126,225,689 (GRCm39)	S514P	probably damaging	Het
Ces1a	G	T	8: 93,766,164 (GRCm39)	S150*	probably null	Het
Ces1g	T	A	8: 94,029,615 (GRCm39)	D539V	possibly damaging	Het
Col24a1	A	G	3: 145,068,064 (GRCm39)	D752G	probably damaging	Het
Ctsd	A	C	7: 141,936,418 (GRCm39)	S128A	probably damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dscam	G	A	16: 96,621,077 (GRCm39)	L544F	probably damaging	Het
Fry	T	A	5: 150,346,189 (GRCm39)	I1566N	probably benign	Het
Fut8	T	A	12: 77,412,095 (GRCm39)	H148Q	probably benign	Het
Ighv1-64	A	T	12: 115,471,596 (GRCm39)	M1K	probably null	Het
Ivd	T	C	2: 118,707,383 (GRCm39)	V299A	probably benign	Het
Kcnab3	A	G	11: 69,222,129 (GRCm39)	I292V	probably benign	Het
Mfhas1	T	A	8: 36,058,040 (GRCm39)	N838K	probably damaging	Het
Prom1	A	T	5: 44,220,458 (GRCm39)		probably benign	Het
Ros1	T	G	10: 52,020,969 (GRCm39)	T648P	possibly damaging	Het
Skp2	A	C	15: 9,139,574 (GRCm39)	S40R	probably benign	Het
Tm9sf1	T	A	14: 55,880,184 (GRCm39)	K71M	probably damaging	Het
Vegfb	A	G	19: 6,963,846 (GRCm39)	W38R	probably damaging	Het
Xpo1	T	G	11: 23,235,094 (GRCm39)	F588V	probably damaging	Het
Zfp990	C	A	4: 145,264,438 (GRCm39)	L479M	probably damaging	Het

Other mutations in Scel

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-12-06