Mutagenetix > Incidental Mutations

Incidental Mutation 'R5779:Scfd1'

446890

Institutional Source

Beutler Lab

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

3110021P21Rik, RA410, STXBP1L2

MMRRC Submission

043377-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5779 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51377510-51450101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51431529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 508 (N508S)

Ref Sequence

ENSEMBL: ENSMUSP00000021335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021335]

AlphaFold

Q8BRF7

Predicted Effect

probably benign
Transcript: ENSMUST00000021335
AA Change: N508S

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

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: N508S

Domain	Start	End	E-Value	Type
Pfam:Sec1	41	632	1.6e-109	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000218138
AA Change: N89S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219686

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

88% (52/59)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	A	T	17: 56,881,061	N190Y	probably benign	Het
2310035C23Rik	T	G	1: 105,687,347	N246K	probably damaging	Het
Abca6	T	C	11: 110,184,670	M1332V	probably benign	Het
Afg3l2	T	C	18: 67,440,443	K132R	probably null	Het
Arap3	T	C	18: 37,984,365	D886G	probably damaging	Het
B3gntl1	G	T	11: 121,651,676		probably null	Het
Cdk12	T	A	11: 98,219,074	S640R	probably benign	Het
Ceacam12	C	A	7: 18,069,154	P162T	probably benign	Het
Chrna5	C	A	9: 54,998,104	H67N	probably benign	Het
Copb1	T	A	7: 114,219,572	D837V	probably damaging	Het
D11Wsu47e	A	G	11: 113,687,992	D71G	probably benign	Het
Dcaf5	C	T	12: 80,338,832	R840H	probably benign	Het
Ect2l	T	A	10: 18,163,438	Q324L	probably benign	Het
Eef1e1	T	C	13: 38,646,273	N141S	probably damaging	Het
Eif2ak4	A	C	2: 118,412,963	N208T	possibly damaging	Het
Ext1	A	G	15: 53,344,553	Y271H	probably damaging	Het
Fam173a	A	G	17: 25,790,657	V194A	probably benign	Het
Fbxo5	G	A	10: 5,800,303	R323C	possibly damaging	Het
Fpr-rs3	C	A	17: 20,624,226	A218S	possibly damaging	Het
Gm20499	G	A	5: 114,817,021		probably benign	Het
Gucy1b2	C	A	14: 62,414,301	L400F	possibly damaging	Het
Hgd	T	A	16: 37,593,371	L24H	probably benign	Het
Hmx3	C	A	7: 131,544,328	S255*	probably null	Het
Ifrd1	A	T	12: 40,203,370	F448I	probably damaging	Het
Igfn1	T	A	1: 135,966,840	E1996V	probably benign	Het
Itpr1	G	A	6: 108,352,143	G173R	probably damaging	Het
Kbtbd8	T	C	6: 95,118,534	S26P	probably benign	Het
Kctd17	A	T	15: 78,437,133		probably benign	Het
Matr3	T	C	18: 35,584,522	S258P	possibly damaging	Het
Mpp4	G	A	1: 59,151,666	A90V	probably benign	Het
Mrpl20	G	A	4: 155,806,921	R34Q	probably damaging	Het
Neb	A	T	2: 52,245,301	S3266T	probably damaging	Het
Nipal3	A	G	4: 135,452,339		probably benign	Het
Npas2	A	T	1: 39,287,571	T46S	possibly damaging	Het
Nsd3	G	T	8: 25,682,669	E815*	probably null	Het
Nup98	C	A	7: 102,152,361	V786L	probably benign	Het
Olfr730	A	T	14: 50,186,746	M157K	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,467	V162A	probably benign	Het
Pcgf2	G	A	11: 97,690,291	P58L	probably damaging	Het
Penk	A	G	4: 4,134,318	F110L	probably damaging	Het
Scn2a	T	C	2: 65,764,483	V1892A	probably benign	Het
Sema6a	G	A	18: 47,248,826	R885C	probably damaging	Het
Sik2	T	C	9: 50,895,845	H755R	probably benign	Het
Slc36a3	A	T	11: 55,135,268	Y241*	probably null	Het
Smg5	T	C	3: 88,351,618		probably benign	Het
Spag9	A	G	11: 94,114,253	T1049A	probably benign	Het
Tas2r103	T	C	6: 133,036,945	M53V	probably benign	Het
Tpr	C	T	1: 150,423,541	A1090V	probably damaging	Het
Traf5	T	A	1: 191,997,672	R473W	probably damaging	Het
Ush2a	T	C	1: 188,443,510		probably null	Het
Vit	A	G	17: 78,546,426	T34A	probably benign	Het

Other mutations in Scfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Scfd1	APN	12	51427869	missense	probably benign	0.01
IGL00640:Scfd1	APN	12	51389315	missense	probably benign	0.12
IGL01481:Scfd1	APN	12	51384120	missense	probably damaging	0.99
IGL01585:Scfd1	APN	12	51415553	missense	probably damaging	1.00
IGL01862:Scfd1	APN	12	51445711	missense	probably damaging	1.00
IGL02000:Scfd1	APN	12	51414117	missense	probably benign	0.03
IGL02226:Scfd1	APN	12	51389381	splice site	probably benign
IGL02327:Scfd1	APN	12	51389317	missense	possibly damaging	0.81
IGL02503:Scfd1	APN	12	51422921	missense	possibly damaging	0.90
IGL02585:Scfd1	APN	12	51387107	missense	probably damaging	0.97
IGL02732:Scfd1	APN	12	51422973	missense	probably benign	0.01
R0671:Scfd1	UTSW	12	51412628	missense	probably benign	0.01
R0707:Scfd1	UTSW	12	51412577	missense	probably damaging	0.98
R1467:Scfd1	UTSW	12	51431498	missense	possibly damaging	0.49
R1467:Scfd1	UTSW	12	51431498	missense	possibly damaging	0.49
R1962:Scfd1	UTSW	12	51422986	missense	probably benign	0.00
R2173:Scfd1	UTSW	12	51387079	missense	probably benign	0.22
R2249:Scfd1	UTSW	12	51415516	missense	possibly damaging	0.48
R3872:Scfd1	UTSW	12	51392196	missense	probably damaging	0.98
R4080:Scfd1	UTSW	12	51431519	missense	probably benign
R4356:Scfd1	UTSW	12	51439285	missense	probably benign	0.00
R4841:Scfd1	UTSW	12	51389326	missense	probably damaging	0.96
R4842:Scfd1	UTSW	12	51389326	missense	probably damaging	0.96
R4909:Scfd1	UTSW	12	51390412	missense	probably benign	0.00
R5004:Scfd1	UTSW	12	51444994	missense	probably benign	0.03
R5275:Scfd1	UTSW	12	51415589	missense	probably benign	0.19
R5494:Scfd1	UTSW	12	51396739	splice site	probably null
R6000:Scfd1	UTSW	12	51445674	missense	possibly damaging	0.55
R6017:Scfd1	UTSW	12	51445678	missense	probably damaging	1.00
R6522:Scfd1	UTSW	12	51431541	missense	probably benign	0.04
R6954:Scfd1	UTSW	12	51427946	critical splice donor site	probably null
R7748:Scfd1	UTSW	12	51389357	missense	probably benign	0.21
R7993:Scfd1	UTSW	12	51445707	missense	probably damaging	1.00
R8122:Scfd1	UTSW	12	51433269	missense	possibly damaging	0.95
R8353:Scfd1	UTSW	12	51412591	missense	possibly damaging	0.91
R8453:Scfd1	UTSW	12	51412591	missense	possibly damaging	0.91
R8890:Scfd1	UTSW	12	51427895	missense	probably benign
R9284:Scfd1	UTSW	12	51392241	missense	probably benign	0.00
R9294:Scfd1	UTSW	12	51393866	missense	possibly damaging	0.76
RF007:Scfd1	UTSW	12	51422973	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGCACTGAGTTACCTCCAG -3'
(R):5'- GGAGAATCACAGCTATTCCAGG -3'

Sequencing Primer
(F):5'- GCTGTGCATTAGGGAATCTCAG -3'
(R):5'- CAGCTATTCCAGGAAGCCAGG -3'

Posted On

2016-12-15