Mutagenetix > Incidental Mutation

Incidental Mutation 'R5008:Scgn'

390306

Institutional Source

Beutler Lab

Gene Symbol

Scgn

Ensembl Gene

ENSMUSG00000021337

Gene Name

secretagogin, EF-hand calcium binding protein

Synonyms

MMRRC Submission

042599-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5008 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24137439-24175197 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24174958 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 20 (I20T)

Ref Sequence

ENSEMBL: ENSMUSP00000021770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021770]

AlphaFold

Q91WD9

Predicted Effect

probably damaging
Transcript: ENSMUST00000021770
AA Change: I20T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021770
Gene: ENSMUSG00000021337
AA Change: I20T

Domain	Start	End	E-Value	Type
EFh	16	44	3.97e1	SMART
Blast:EFh	62	90	6e-6	BLAST
EFh	109	137	8.63e-6	SMART
EFh	153	181	1.74e-1	SMART
EFh	201	229	4.28e0	SMART
EFh	244	273	7.79e0	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

97% (73/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The encoded protein is a secreted calcium-binding protein which is found in the cytoplasm. It is related to calbindin D-28K and calretinin. This protein is thought to be involved in KCL-stimulated calcium flux and cell proliferation. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
2310057N15Rik	A	G	16: 88,570,663 (GRCm39)	Y126H	probably damaging	Het
Catsperg1	A	T	7: 28,894,859 (GRCm39)	Y579*	probably null	Het
Chchd5	A	T	2: 128,972,319 (GRCm39)		probably null	Het
Chd1l	T	C	3: 97,491,224 (GRCm39)	N423D	probably damaging	Het
Cntnap1	G	A	11: 101,079,567 (GRCm39)	W1268*	probably null	Het
Col2a1	G	A	15: 97,877,550 (GRCm39)	A1011V	probably benign	Het
Cst11	A	G	2: 148,612,325 (GRCm39)	I104T	probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dnaaf4	T	C	9: 72,879,600 (GRCm39)		probably benign	Het
Dnah17	A	G	11: 118,001,403 (GRCm39)	F847L	probably benign	Het
Dspp	A	T	5: 104,323,439 (GRCm39)	H194L	possibly damaging	Het
Dync2i2	C	A	2: 29,922,781 (GRCm39)	R322L	probably benign	Het
Frmd5	C	A	2: 121,379,341 (GRCm39)	R414L	probably damaging	Het
Galnt3	C	A	2: 65,915,585 (GRCm39)	R592L	probably benign	Het
Gm38706	T	A	6: 130,461,580 (GRCm39)		noncoding transcript	Het
Gm38706	T	A	6: 130,461,983 (GRCm39)		noncoding transcript	Het
Hivep3	A	G	4: 119,956,114 (GRCm39)	K1477E	probably benign	Het
Igsf3	C	T	3: 101,358,233 (GRCm39)	T708M	probably damaging	Het
Ikzf4	T	G	10: 128,477,119 (GRCm39)	E64A	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Krt87	T	A	15: 101,389,105 (GRCm39)	I76F	probably damaging	Het
Lat2	A	G	5: 134,631,991 (GRCm39)	V152A	probably benign	Het
Lrp12	C	T	15: 39,741,852 (GRCm39)	D288N	probably damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Myh4	T	A	11: 67,144,358 (GRCm39)	S1243T	probably benign	Het
Myo3b	T	A	2: 70,088,412 (GRCm39)	F892I	probably damaging	Het
Nckap5l	T	C	15: 99,323,731 (GRCm39)	N924S	possibly damaging	Het
Npnt	C	T	3: 132,612,218 (GRCm39)	C218Y	probably damaging	Het
Or2a20	T	A	6: 43,193,991 (GRCm39)	I48N	probably damaging	Het
Or2d2b	A	T	7: 106,705,288 (GRCm39)	M260K	probably damaging	Het
Or7a42	T	A	10: 78,791,905 (GRCm39)	F289I	probably damaging	Het
Pfkm	G	A	15: 98,020,570 (GRCm39)	C233Y	probably benign	Het
Pigq	A	G	17: 26,153,177 (GRCm39)	V338A	probably benign	Het
Pld4	A	T	12: 112,734,484 (GRCm39)	N415I	possibly damaging	Het
Pmm1	A	T	15: 81,842,095 (GRCm39)		probably null	Het
Polg	G	T	7: 79,109,822 (GRCm39)	P394T	probably damaging	Het
Polq	A	T	16: 36,882,749 (GRCm39)	I1359L	probably benign	Het
Pramel30	A	G	4: 144,057,836 (GRCm39)	S148G	probably benign	Het
Pros1	A	G	16: 62,748,548 (GRCm39)	N674D	possibly damaging	Het
Psme4	T	A	11: 30,806,896 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,634,959 (GRCm39)	C453*	probably null	Het
Repin1	T	C	6: 48,573,542 (GRCm39)	V101A	probably damaging	Het
Rnf186	A	T	4: 138,694,540 (GRCm39)	M27L	probably benign	Het
Rpa1	A	G	11: 75,204,125 (GRCm39)		probably null	Het
Rph3a	G	T	5: 121,083,454 (GRCm39)	N605K	probably damaging	Het
Rps18	A	T	17: 34,171,258 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,848,452 (GRCm39)	V652E	possibly damaging	Het
Slc23a2	T	C	2: 131,943,414 (GRCm39)	H29R	probably damaging	Het
Slc34a3	C	T	2: 25,120,854 (GRCm39)	V383I	possibly damaging	Het
Slc5a1	A	G	5: 33,309,917 (GRCm39)	M382V	possibly damaging	Het
Slc5a3	T	A	16: 91,874,169 (GRCm39)	S75R	probably damaging	Het
Stat5b	G	C	11: 100,693,309 (GRCm39)	H111D	probably benign	Het
Tanc2	G	A	11: 105,515,886 (GRCm39)	M1I	probably null	Het
Tbcel	C	T	9: 42,327,419 (GRCm39)	G328E	probably damaging	Het
Tecta	C	A	9: 42,284,358 (GRCm39)	R909L	possibly damaging	Het
Tnip1	A	T	11: 54,828,810 (GRCm39)	M119K	probably benign	Het
Zbbx	A	C	3: 75,058,755 (GRCm39)	S51A	possibly damaging	Het
Zc3h12c	T	C	9: 52,028,000 (GRCm39)	N454S	probably benign	Het
Zfp980	G	A	4: 145,428,653 (GRCm39)	G461S	probably benign	Het

Other mutations in Scgn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01553:Scgn	APN	13	24,143,662 (GRCm39)	missense	probably benign
IGL02109:Scgn	APN	13	24,137,948 (GRCm39)	missense	possibly damaging	0.80
R0865:Scgn	UTSW	13	24,146,102 (GRCm39)	splice site	probably null
R1761:Scgn	UTSW	13	24,143,689 (GRCm39)	missense	probably damaging	1.00
R1916:Scgn	UTSW	13	24,162,808 (GRCm39)	missense	probably damaging	1.00
R2026:Scgn	UTSW	13	24,175,047 (GRCm39)	start gained	probably benign
R4940:Scgn	UTSW	13	24,173,807 (GRCm39)	missense	probably benign
R6579:Scgn	UTSW	13	24,143,717 (GRCm39)	missense	probably damaging	1.00
R7191:Scgn	UTSW	13	24,165,476 (GRCm39)	missense	probably benign	0.00
R7455:Scgn	UTSW	13	24,150,848 (GRCm39)	missense	probably benign	0.06
R7571:Scgn	UTSW	13	24,137,897 (GRCm39)	missense	probably damaging	1.00
R9341:Scgn	UTSW	13	24,173,829 (GRCm39)	critical splice acceptor site	probably null
R9343:Scgn	UTSW	13	24,173,829 (GRCm39)	critical splice acceptor site	probably null
R9473:Scgn	UTSW	13	24,143,731 (GRCm39)	critical splice acceptor site	probably null
R9559:Scgn	UTSW	13	24,137,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAGTGCTCAGTCCACTCAG -3'
(R):5'- AGACTGAAGACTGCTCAGCG -3'

Sequencing Primer
(F):5'- GTCCACTCAGAATTTTTCAGACAC -3'
(R):5'- TGAAGACTGCTCAGCGACACC -3'

Genotyping

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the mutation.

PCR Primers

R50080062_PCR_F: 5’- GGAAAGTGCTCAGTCCACTCAG-3’

R50080062_PCR_R: 5’- AGACTGAAGACTGCTCAGCG-3’

Sequencing Primers

R50080062_SEQ_F: 5’- GTCCACTCAGAATTTTTCAGACAC-3’ 

R50080062_SEQ_R: 5’- TGAAGACTGCTCAGCGACACC-3’ 

PCR program

1) 94°C 2:00

2) 94°C 0:30

3) 55°C 0:30

4) 72°C 1:00

5) repeat steps (2-4) 40X

6) 72°C 10:00

7) 4°C hold

The following sequence of 402 nucleotides is amplified (NCBI RefSeq: NC_000079, chromosome 13):

159 ag actgaagact gctcagcgac

181 accaacgagc ccggacgccc tcgagcttgc cttgcccact ggtacctagc tagagaggga

241 ggaagtggac cgaagagtcg ggaaatactg ctaggcgagt ttacccacat cagcaccatg

301 gacaacgcac gcagaaaaac tccagctcgg ctggatgctg cctgcttctg gcagatctgg

361 cagcgcttcg acaaggaagg tgagtagctt tggtcagttg agcgcctagc gtagacacag

421 agggaactgg aatttctcct aagcgccttt ctctataaga aaagttgact actgagtgcc

481 ggagaaagta ccctcagcat acgctgattt tacatatcaa gaaagtgtct gaaaaattct

541 gagtggactg agcactttcc

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. (+) = A>G; sense strand = T>C)

Posted On

2016-06-06