Mutagenetix > Incidental Mutation

Incidental Mutation 'R1898:Sct'

212125

Institutional Source

Beutler Lab

Gene Symbol

Sct

Ensembl Gene

ENSMUSG00000038580

Gene Name

secretin

Synonyms

MMRRC Submission

039918-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R1898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140858243-140859046 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140858761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 57 (L57Q)

Ref Sequence

ENSEMBL: ENSMUSP00000041519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046156] [ENSMUST00000046156] [ENSMUST00000080654] [ENSMUST00000167263] [ENSMUST00000167790] [ENSMUST00000167790] [ENSMUST00000211667] [ENSMUST00000211667]

AlphaFold

Q08535

Predicted Effect

probably damaging
Transcript: ENSMUST00000046156
AA Change: L57Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041519
Gene: ENSMUSG00000038580
AA Change: L57Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
GLUCA	32	58	1.16e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000046156
AA Change: L57Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041519
Gene: ENSMUSG00000038580
AA Change: L57Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
GLUCA	32	58	1.16e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080654

SMART Domains

Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	3e-24	BLAST
transmembrane domain	478	500	N/A	INTRINSIC
low complexity region	546	580	N/A	INTRINSIC
low complexity region	634	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167263

SMART Domains

Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	53	125	3.78e-2	SMART
CA	152	238	2.34e-1	SMART
Blast:CA	277	355	3e-35	BLAST
Blast:CA	388	458	1e-24	BLAST
low complexity region	462	476	N/A	INTRINSIC
low complexity region	496	518	N/A	INTRINSIC
low complexity region	520	544	N/A	INTRINSIC
low complexity region	559	576	N/A	INTRINSIC
transmembrane domain	640	662	N/A	INTRINSIC
low complexity region	708	742	N/A	INTRINSIC
low complexity region	796	815	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167790
AA Change: L57Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128729
Gene: ENSMUSG00000038580
AA Change: L57Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
GLUCA	32	58	1.16e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167790
AA Change: L57Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128729
Gene: ENSMUSG00000038580
AA Change: L57Q

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
GLUCA	32	58	1.16e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210928

Predicted Effect

probably damaging
Transcript: ENSMUST00000211667
AA Change: L57Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211667
AA Change: L57Q

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.3%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the precursor of a gastrointestinal peptide hormone of the secretin-glucagon family. The encoded protein is secreted as a prohormone that undergoes proteolytic processing to generate a mature peptide hormone. The mature peptide regulates secretion of gastric acid, biocarbonate ions from pancreatic and biliary duct epithelia and water homeostasis in the gastrointestinal system. Mice lacking the encoded protein display decreased survival of neuroprogenitor cells during early postnatal period and impaired long-term potentiation and spatial learning in adulthood. Alternative splicing results in multiple transcript variants encoding different isoforms. All of these isoforms may be processed in a similar manner to generate the mature peptide hormone. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display impaired hippocampal synaptic function. Mice homozygous for a different knock-out allele fail exhibit increased water concsumption of vasopressin serum levels in response to ANGII treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	C	A	4: 53,071,977 (GRCm39)	R1195L	probably benign	Het
Abca14	A	G	7: 119,850,392 (GRCm39)	Y748C	probably damaging	Het
Abca6	A	G	11: 110,099,625 (GRCm39)	F974S	probably damaging	Het
Acyp1	T	C	12: 85,335,114 (GRCm39)	K2E	probably benign	Het
Ahcy	T	A	2: 154,904,173 (GRCm39)	S355C	probably benign	Het
AI182371	A	G	2: 34,990,661 (GRCm39)	V12A	probably damaging	Het
Ankrd36	T	C	11: 5,525,683 (GRCm39)	I215T	probably benign	Het
Aox1	C	T	1: 58,117,601 (GRCm39)	R828C	probably damaging	Het
Atp1a4	T	A	1: 172,062,615 (GRCm39)	I631F	probably damaging	Het
Brd10	T	C	19: 29,712,532 (GRCm39)	N789S	possibly damaging	Het
Brinp3	T	G	1: 146,776,987 (GRCm39)	V478G	possibly damaging	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Celf2	C	T	2: 6,608,975 (GRCm39)	V95M	probably damaging	Het
Chka	A	T	19: 3,942,205 (GRCm39)	E404D	probably damaging	Het
Clec5a	A	C	6: 40,558,870 (GRCm39)	V72G	probably benign	Het
Cnn1	T	C	9: 22,012,560 (GRCm39)		probably null	Het
Coq6	A	G	12: 84,413,737 (GRCm39)	E89G	probably benign	Het
Cpne6	A	T	14: 55,754,485 (GRCm39)	I538F	possibly damaging	Het
Crx	G	A	7: 15,602,148 (GRCm39)	P177S	probably damaging	Het
Cysltr2	G	T	14: 73,266,973 (GRCm39)	P246T	probably damaging	Het
Decr1	A	G	4: 15,929,801 (GRCm39)	I164T	probably damaging	Het
Dmtf1	A	T	5: 9,178,091 (GRCm39)	V315E	probably damaging	Het
Dnah7b	A	G	1: 46,275,874 (GRCm39)	N2587S	probably benign	Het
E2f6	C	A	12: 16,874,581 (GRCm39)	T221K	probably benign	Het
Fat3	T	G	9: 15,871,426 (GRCm39)	D3655A	probably damaging	Het
Fbxw28	G	A	9: 109,152,452 (GRCm39)	T384I	probably benign	Het
Fes	T	A	7: 80,029,659 (GRCm39)	I608F	probably damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Gabrb2	A	G	11: 42,484,659 (GRCm39)	K239E	possibly damaging	Het
Gen1	T	C	12: 11,291,609 (GRCm39)	R727G	probably benign	Het
Glb1	T	A	9: 114,253,103 (GRCm39)	V184E	probably damaging	Het
Gngt1	A	T	6: 3,996,724 (GRCm39)	I57F	possibly damaging	Het
Ice1	T	C	13: 70,750,426 (GRCm39)	I87V	possibly damaging	Het
Itih1	A	G	14: 30,654,244 (GRCm39)	Y674H	probably benign	Het
Itsn1	T	A	16: 91,696,468 (GRCm39)	C24S	probably damaging	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Myh10	A	G	11: 68,662,732 (GRCm39)	N595S	probably damaging	Het
Myo5c	C	T	9: 75,204,908 (GRCm39)	T1587I	probably damaging	Het
Npat	T	A	9: 53,474,937 (GRCm39)	F910I	probably damaging	Het
Nradd	T	C	9: 110,450,676 (GRCm39)	Y167C	probably damaging	Het
Nt5dc1	T	C	10: 34,189,631 (GRCm39)	E352G	probably benign	Het
Numa1	T	C	7: 101,641,927 (GRCm39)		probably null	Het
Odc1	T	A	12: 17,598,842 (GRCm39)	S241T	probably damaging	Het
Or11g2	A	T	14: 50,856,231 (GRCm39)	D184V	probably damaging	Het
Or14j7	A	T	17: 38,234,516 (GRCm39)	N20Y	possibly damaging	Het
Pcnx3	T	C	19: 5,722,615 (GRCm39)	D951G	probably damaging	Het
Pigg	T	C	5: 108,484,408 (GRCm39)	F685L	probably benign	Het
Pnpla7	T	A	2: 24,943,796 (GRCm39)		probably benign	Het
Pramel16	C	T	4: 143,677,298 (GRCm39)	V94M	probably damaging	Het
Rcsd1	C	T	1: 165,486,998 (GRCm39)	A72T	probably benign	Het
Rp1l1	A	T	14: 64,269,039 (GRCm39)	T1542S	probably benign	Het
Serpinb3b	T	C	1: 107,082,317 (GRCm39)	S316G	possibly damaging	Het
Shprh	T	C	10: 11,062,613 (GRCm39)	L1240S	probably damaging	Het
Slc4a1	C	T	11: 102,241,133 (GRCm39)	E924K	probably damaging	Het
Sp7	A	T	15: 102,267,453 (GRCm39)	Y118N	possibly damaging	Het
Srebf2	A	G	15: 82,087,936 (GRCm39)	T219A	probably damaging	Het
Tenm3	G	T	8: 48,763,796 (GRCm39)	P753T	probably damaging	Het
Tonsl	A	T	15: 76,523,053 (GRCm39)		probably null	Het
Trio	A	T	15: 27,742,466 (GRCm39)	S2675T	possibly damaging	Het
Tspan12	T	C	6: 21,795,693 (GRCm39)	T166A	probably damaging	Het
Ttll4	A	G	1: 74,736,641 (GRCm39)	D1122G	probably benign	Het
Vmn1r77	G	A	7: 11,775,550 (GRCm39)	A41T	probably damaging	Het
Xpo7	A	T	14: 70,933,064 (GRCm39)	F276Y	probably benign	Het
Zdhhc1	A	T	8: 106,205,378 (GRCm39)		probably null	Het
Zfp319	C	A	8: 96,055,417 (GRCm39)	C262F	probably damaging	Het
Zfp442	C	T	2: 150,250,582 (GRCm39)	C383Y	probably damaging	Het
Zfp57	G	T	17: 37,320,650 (GRCm39)	R168L	possibly damaging	Het

Other mutations in Sct

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02334:Sct	APN	7	140,858,530 (GRCm39)	critical splice donor site	probably null
R1654:Sct	UTSW	7	140,858,767 (GRCm39)	missense	probably damaging	0.96
R1879:Sct	UTSW	7	140,858,612 (GRCm39)	missense	probably damaging	0.98
R4762:Sct	UTSW	7	140,858,954 (GRCm39)	unclassified	probably benign
R8296:Sct	UTSW	7	140,858,807 (GRCm39)	missense	probably damaging	0.98
R9110:Sct	UTSW	7	140,859,007 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCAGAGCTGGTCCTCTAAG -3'
(R):5'- CGATGCTACTGCTGTTGCTG -3'

Sequencing Primer
(F):5'- TCCTCTAAGGGCTTGGACC -3'
(R):5'- CTACTGCTGTTGCTGCTGCTG -3'

Posted On

2014-06-30