Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02000:Scfd1'

183005

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

3110021P21Rik, RA410, STXBP1L2

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.949) question?

Stock #

IGL02000

Quality Score

Status

Chromosome

Chromosomal Location

51377510-51450101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51414117 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 337 (S337T)

Ref Sequence

ENSEMBL: ENSMUSP00000151347 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021335] [ENSMUST00000219434]

AlphaFold

Q8BRF7

Predicted Effect

probably benign
Transcript: ENSMUST00000021335
AA Change: S337T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: S337T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219434
AA Change: S337T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid5a	T	C	1: 36,319,497	F450S	probably damaging	Het
Astn1	C	T	1: 158,674,614	R1133C	probably damaging	Het
Cd101	G	A	3: 101,012,082	P568L	probably benign	Het
Cdkl4	T	C	17: 80,543,763	E170G	probably damaging	Het
Chit1	A	G	1: 134,146,675	E240G	probably benign	Het
Duox2	T	C	2: 122,290,709	T741A	probably benign	Het
Eef2	T	C	10: 81,180,011	V427A	probably benign	Het
Ewsr1	T	C	11: 5,088,077	D105G	probably damaging	Het
Ftsj3	C	T	11: 106,250,407	R629Q	probably benign	Het
Gm10406	C	T	14: 7,009,867	G181E	probably benign	Het
Ilk	A	G	7: 105,741,169	H185R	probably benign	Het
Lamc1	A	T	1: 153,240,433	C1001S	probably damaging	Het
Mcidas	T	C	13: 112,997,440	S153P	probably benign	Het
Mtcl1	T	C	17: 66,354,190	E931G	probably benign	Het
Myo10	C	T	15: 25,808,066	R1925C	probably damaging	Het
Notch3	A	G	17: 32,122,742	V2012A	probably damaging	Het
Olfr809	C	A	10: 129,776,069	H67N	probably benign	Het
Parp6	A	G	9: 59,648,892	M542V	probably benign	Het
Rab27a	G	A	9: 73,084,972	G94D	probably damaging	Het
Ralgapb	A	G	2: 158,454,114		probably benign	Het
Rassf4	T	C	6: 116,645,972	E26G	probably benign	Het
Rnf166	C	T	8: 122,467,222	D221N	probably damaging	Het
Rptn	G	T	3: 93,396,428	G356V	probably benign	Het
Rwdd2b	T	A	16: 87,436,940		probably benign	Het
Sel1l3	T	A	5: 53,145,493	D678V	probably damaging	Het
Sidt1	A	T	16: 44,286,369	F233I	probably damaging	Het
Slc12a4	T	C	8: 105,945,232	D917G	probably damaging	Het
Slc22a2	A	T	17: 12,584,383	I35F	possibly damaging	Het
Smco1	A	T	16: 32,273,933	T141S	possibly damaging	Het
Svs6	T	C	2: 164,317,432		probably benign	Het
Syne2	C	T	12: 76,015,645	A4247V	probably damaging	Het
Tacc2	T	A	7: 130,729,168		probably null	Het
Tgm4	A	T	9: 123,056,466	I358F	probably damaging	Het
Thnsl2	A	G	6: 71,134,219	S222P	probably damaging	Het
Tmem25	G	A	9: 44,798,271	R78*	probably null	Het
Ube2l6	T	C	2: 84,809,162		probably benign	Het
Usp10	T	A	8: 119,948,741	Y63N	possibly damaging	Het
Vit	A	G	17: 78,605,486	I283V	possibly damaging	Het
Vmn1r214	G	A	13: 23,035,100	V255I	possibly damaging	Het
Xpo1	A	G	11: 23,296,003	R1038G	probably damaging	Het
Ybx1	T	A	4: 119,282,312	N50I	probably damaging	Het
Zhx1	T	C	15: 58,054,287	K188E	probably damaging	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
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
R5779:Scfd1	UTSW	12	51431529	missense	probably benign
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

Posted On

2014-05-07