Mutagenetix > Incidental Mutation

Incidental Mutation 'R9135:Scel'

693966

Institutional Source

Beutler Lab

Gene Symbol

Scel

Ensembl Gene

ENSMUSG00000022123

Gene Name

sciellin

Synonyms

9230114I02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9135 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103750778-103850233 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103839626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 510 (F510I)

Ref Sequence

ENSEMBL: ENSMUSP00000093233 (fasta)

Gene Model

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

AlphaFold

Q9EQG3

Predicted Effect

probably benign
Transcript: ENSMUST00000095576
AA Change: F510I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000093233
Gene: ENSMUSG00000022123
AA Change: F510I

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: F490I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abi3bp	A	G	16: 56,417,173 (GRCm39)	D419G	probably benign	Het
Acoxl	A	T	2: 127,696,691 (GRCm39)		probably benign	Het
Acvr1	T	C	2: 58,352,983 (GRCm39)	T326A	possibly damaging	Het
Adgra2	T	C	8: 27,610,979 (GRCm39)	L976P	probably damaging	Het
Adora2b	A	G	11: 62,155,886 (GRCm39)		probably null	Het
Ak1	A	T	2: 32,521,182 (GRCm39)	Q117L	probably damaging	Het
Akr1c14	T	A	13: 4,128,029 (GRCm39)	D143E	probably damaging	Het
Ap4e1	A	T	2: 126,861,242 (GRCm39)	H127L	probably damaging	Het
Asxl3	T	A	18: 22,649,670 (GRCm39)	I553N	probably damaging	Het
Asxl3	T	A	18: 22,657,481 (GRCm39)	N1830K	possibly damaging	Het
Atp11a	G	A	8: 12,863,144 (GRCm39)	A108T	probably damaging	Het
Bag6	A	G	17: 35,362,437 (GRCm39)	T582A	unknown	Het
Bbs9	T	C	9: 22,490,005 (GRCm39)	S259P	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Bltp3a	T	A	17: 28,104,902 (GRCm39)	L532*	probably null	Het
Blvrb	T	C	7: 27,165,210 (GRCm39)	S177P	probably damaging	Het
C1s2	T	A	6: 124,602,642 (GRCm39)	D523V	probably benign	Het
Cacna2d1	C	T	5: 16,558,850 (GRCm39)	T736I	probably damaging	Het
Card9	T	C	2: 26,242,397 (GRCm39)	N513S	probably benign	Het
Casp2	A	G	6: 42,245,882 (GRCm39)	T180A	probably benign	Het
Cenpf	A	T	1: 189,404,746 (GRCm39)	L361Q	probably damaging	Het
Cnbd2	T	C	2: 156,217,488 (GRCm39)	I659T	probably damaging	Het
Cped1	A	T	6: 21,987,012 (GRCm39)	D68V	probably damaging	Het
Cxcr1	T	C	1: 74,231,099 (GRCm39)	I308V	probably benign	Het
Dad1	A	G	14: 54,491,163 (GRCm39)	L46P	probably damaging	Het
Defb23	G	A	2: 152,301,422 (GRCm39)	A50V	probably benign	Het
Dhx33	C	T	11: 70,877,992 (GRCm39)	A684T	probably damaging	Het
Dnai3	T	C	3: 145,772,589 (GRCm39)	T486A	probably benign	Het
Epb41l4a	T	A	18: 33,965,729 (GRCm39)	N366I	probably benign	Het
Erich3	A	G	3: 154,467,912 (GRCm39)	E788G		Het
Fam241b	T	C	10: 61,944,892 (GRCm39)	N35S	probably benign	Het
Fbxo24	T	A	5: 137,622,526 (GRCm39)	Q80L	probably benign	Het
Foxk1	T	G	5: 142,434,497 (GRCm39)	F254V	probably benign	Het
Gm10801	C	CGTG	2: 98,494,152 (GRCm39)		probably null	Het
Gm12886	T	C	4: 121,274,743 (GRCm39)	I46V	probably benign	Het
Gm20834	G	T	Y: 10,323,354 (GRCm39)	H27Q	probably damaging	Het
Gm2888	A	G	14: 3,032,106 (GRCm38)	N138S	probably damaging	Het
Gm5773	T	C	3: 93,681,179 (GRCm39)	C284R	possibly damaging	Het
Gprin3	A	T	6: 59,330,273 (GRCm39)	M678K	probably benign	Het
Grm7	T	C	6: 111,472,729 (GRCm39)	V856A	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Immt	C	T	6: 71,851,403 (GRCm39)	T588I	probably damaging	Het
Ints1	G	C	5: 139,737,701 (GRCm39)	N2145K	possibly damaging	Het
Jade2	T	C	11: 51,715,951 (GRCm39)	D418G	probably benign	Het
Kdf1	T	C	4: 133,256,140 (GRCm39)	Y286H	probably damaging	Het
Kif18a	A	G	2: 109,171,506 (GRCm39)	Y861C	possibly damaging	Het
Lama2	T	A	10: 27,298,515 (GRCm39)	I194F	probably damaging	Het
Lhx8	A	G	3: 154,034,063 (GRCm39)	S33P	probably benign	Het
Lmo7	T	C	14: 102,118,297 (GRCm39)	I174T	probably damaging	Het
Lrfn2	A	T	17: 49,376,976 (GRCm39)	D19V	possibly damaging	Het
Lrrk1	A	T	7: 65,928,357 (GRCm39)	I1257N	probably damaging	Het
Malrd1	T	A	2: 15,802,516 (GRCm39)	H1076Q	unknown	Het
Map3k14	A	C	11: 103,128,364 (GRCm39)	M419R	probably damaging	Het
Mcm10	G	A	2: 5,011,372 (GRCm39)	R200C	probably benign	Het
Mertk	A	G	2: 128,604,035 (GRCm39)	N390D	probably benign	Het
Mitf	T	A	6: 97,990,680 (GRCm39)	I361N	probably damaging	Het
Mrgprb1	T	A	7: 48,097,046 (GRCm39)	I289F	possibly damaging	Het
Muc5ac	A	T	7: 141,352,218 (GRCm39)	D659V	probably damaging	Het
Nox4	G	A	7: 87,025,448 (GRCm39)	R525Q	probably benign	Het
Nphp3	T	G	9: 103,909,214 (GRCm39)	L808R	probably damaging	Het
Or14c42-ps1	G	A	7: 86,211,156 (GRCm39)	C72Y	unknown	Het
Or1e1	T	C	11: 73,245,316 (GRCm39)	S246P	probably damaging	Het
Or5an1	T	A	19: 12,260,808 (GRCm39)	L132Q	probably damaging	Het
Or5b113	T	A	19: 13,342,755 (GRCm39)	S254R	possibly damaging	Het
Pagr1a	T	C	7: 126,615,954 (GRCm39)	E47G	probably benign	Het
Papss2	G	T	19: 32,618,764 (GRCm39)	R274L	probably damaging	Het
Pcdhga10	C	A	18: 37,880,960 (GRCm39)	F240L	probably damaging	Het
Pcsk5	T	G	19: 17,563,472 (GRCm39)	E555A		Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pgrmc2	T	A	3: 41,023,099 (GRCm39)	D206V	probably damaging	Het
Pkd1	T	C	17: 24,790,976 (GRCm39)	V1057A		Het
Plekha5	T	C	6: 140,480,239 (GRCm39)	I113T	probably damaging	Het
Prorp	T	A	12: 55,426,189 (GRCm39)	L513Q	probably damaging	Het
Prss32	C	T	17: 24,078,199 (GRCm39)	T295I	possibly damaging	Het
Ptprk	G	T	10: 28,456,413 (GRCm39)	V1072F	probably damaging	Het
Rasd2	T	A	8: 75,945,174 (GRCm39)	M1K	probably null	Het
Rhag	T	A	17: 41,139,302 (GRCm39)	M79K	probably damaging	Het
Rnf19a	C	A	15: 36,253,310 (GRCm39)		probably null	Het
Rnf213	G	T	11: 119,299,573 (GRCm39)	G101C		Het
Sap130	T	A	18: 31,780,116 (GRCm39)	D45E	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Shoc2	T	A	19: 53,976,310 (GRCm39)	S67T	probably benign	Het
Slc22a3	T	C	17: 12,645,619 (GRCm39)	I441V	possibly damaging	Het
Slfn5	A	G	11: 82,851,503 (GRCm39)	D600G	probably benign	Het
Smim7	G	A	8: 73,324,757 (GRCm39)	T10M	probably damaging	Het
Sntb2	A	T	8: 107,662,831 (GRCm39)	Q133L	possibly damaging	Het
Steap3	A	C	1: 120,162,048 (GRCm39)	M408R	probably benign	Het
Supt4a	T	C	11: 87,633,624 (GRCm39)	I60T	probably benign	Het
Swt1	A	C	1: 151,244,239 (GRCm39)	C899G	possibly damaging	Het
Taok3	A	G	5: 117,344,744 (GRCm39)	E157G	probably damaging	Het
Taok3	C	T	5: 117,379,245 (GRCm39)	L427F	possibly damaging	Het
Taok3	T	C	5: 117,379,168 (GRCm39)	V401A	probably benign	Het
Tcf25	A	G	8: 124,108,182 (GRCm39)	E79G	probably benign	Het
Tigit	G	A	16: 43,479,876 (GRCm39)	L140F	possibly damaging	Het
Tmem143	G	T	7: 45,546,802 (GRCm39)		probably benign	Het
Tmem151b	C	T	17: 45,856,355 (GRCm39)	V362M	possibly damaging	Het
Tmem230	A	G	2: 132,085,989 (GRCm39)	F58L	probably benign	Het
Trim25	T	C	11: 88,899,988 (GRCm39)	M245T	probably benign	Het
Trim36	A	C	18: 46,302,410 (GRCm39)	V546G	probably benign	Het
Triml1	T	C	8: 43,583,624 (GRCm39)	N326D	probably damaging	Het
Trp53bp2	T	C	1: 182,286,328 (GRCm39)	V1056A	probably damaging	Het
Trpa1	C	A	1: 14,952,435 (GRCm39)	M865I	probably damaging	Het
Ttbk1	A	T	17: 46,790,132 (GRCm39)	Y104*	probably null	Het
Tubg1	T	A	11: 101,014,257 (GRCm39)	H139Q	probably damaging	Het
Ufsp2	A	G	8: 46,447,050 (GRCm39)		probably null	Het
Usp47	A	T	7: 111,652,431 (GRCm39)	N36I	probably benign	Het
Vmn1r32	G	A	6: 66,530,120 (GRCm39)	R219*	probably null	Het
Vmn2r59	G	A	7: 41,693,125 (GRCm39)	P492S	probably benign	Het
Vmn2r59	G	C	7: 41,693,127 (GRCm39)	A491G		Het
Wdr76	T	C	2: 121,364,592 (GRCm39)	Y299H	probably damaging	Het
Wnt5a	C	T	14: 28,240,309 (GRCm39)	A153V	probably benign	Het
Zfp202	T	C	9: 40,120,237 (GRCm39)	V226A	possibly damaging	Het
Zfp219	C	T	14: 52,244,598 (GRCm39)	R527H	probably damaging	Het
Zfp408	A	T	2: 91,475,528 (GRCm39)	L542H	probably damaging	Het
Zfyve9	A	T	4: 108,539,386 (GRCm39)	C271*	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
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
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'- CGTTCTGTAAGTACCTGTGCAG -3'
(R):5'- AGCAACAGCTACGTTCTACATTC -3'

Sequencing Primer
(F):5'- GTTCTGTAAGTACCTGTGCAGAAACC -3'
(R):5'- TATGTCCCAGCAATCACTGAG -3'

Posted On

2022-01-20