Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Scrn3'

555094

Institutional Source

Beutler Lab

Gene Symbol

Scrn3

Ensembl Gene

ENSMUSG00000008226

Gene Name

secernin 3

Synonyms

4833415E20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4519001 (G1)

Quality Score

195.009

Status

Not validated

Chromosome

Chromosomal Location

73142980-73168158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73148768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 113 (V113A)

Ref Sequence

ENSEMBL: ENSMUSP00000088320 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090811] [ENSMUST00000112050]

AlphaFold

Q3TMH2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090811
AA Change: V113A

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088320
Gene: ENSMUSG00000008226
AA Change: V113A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C69	50	268	4.7e-13	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112050
AA Change: V113A

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107681
Gene: ENSMUSG00000008226
AA Change: V113A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C69	14	185	9.3e-13	PFAM

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Coil	C	T	11: 88,863,552 (GRCm39)		probably benign	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably damaging	Het

Other mutations in Scrn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02012:Scrn3	APN	2	73,148,773 (GRCm39)	critical splice donor site	probably null
IGL02676:Scrn3	APN	2	73,160,215 (GRCm39)	missense	probably benign
PIT4445001:Scrn3	UTSW	2	73,148,673 (GRCm39)	missense	possibly damaging	0.90
PIT4519001:Scrn3	UTSW	2	73,161,347 (GRCm39)	missense	possibly damaging	0.95
R2105:Scrn3	UTSW	2	73,160,196 (GRCm39)	missense	probably damaging	0.96
R3973:Scrn3	UTSW	2	73,166,121 (GRCm39)	missense	possibly damaging	0.66
R3974:Scrn3	UTSW	2	73,166,121 (GRCm39)	missense	possibly damaging	0.66
R3975:Scrn3	UTSW	2	73,166,121 (GRCm39)	missense	possibly damaging	0.66
R4206:Scrn3	UTSW	2	73,149,845 (GRCm39)	critical splice donor site	probably null
R5340:Scrn3	UTSW	2	73,166,154 (GRCm39)	nonsense	probably null
R5545:Scrn3	UTSW	2	73,166,125 (GRCm39)	missense	possibly damaging	0.64
R5852:Scrn3	UTSW	2	73,161,349 (GRCm39)	missense	probably damaging	1.00
R6819:Scrn3	UTSW	2	73,149,826 (GRCm39)	missense	probably damaging	0.98
R7664:Scrn3	UTSW	2	73,149,714 (GRCm39)	missense	possibly damaging	0.90
R8260:Scrn3	UTSW	2	73,166,202 (GRCm39)	missense	probably damaging	1.00
R8350:Scrn3	UTSW	2	73,160,113 (GRCm39)	missense	possibly damaging	0.95
R8450:Scrn3	UTSW	2	73,160,113 (GRCm39)	missense	possibly damaging	0.95
R8906:Scrn3	UTSW	2	73,161,355 (GRCm39)	missense	possibly damaging	0.75
R8906:Scrn3	UTSW	2	73,161,352 (GRCm39)	missense	probably benign	0.34
R8915:Scrn3	UTSW	2	73,148,636 (GRCm39)	missense	probably damaging	0.99
R9355:Scrn3	UTSW	2	73,166,077 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGATCGCCTCTTCCCAAC -3'
(R):5'- CCCAGTTAGTGATGTGCATGG -3'

Sequencing Primer
(F):5'- CCCAACGGTGTTTTAAATTCTGG -3'
(R):5'- CTGGAATTTACCCAAGTAGCTGCG -3'

Posted On

2019-06-07