Mutagenetix > Incidental Mutations

Incidental Mutation 'R6017:Scfd1'

478659

Institutional Source

Beutler Lab

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

3110021P21Rik, RA410, STXBP1L2

MMRRC Submission

044191-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6017 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51377510-51450101 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51445678 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 590 (V590A)

Ref Sequence

ENSEMBL: ENSMUSP00000021335 (fasta)

Gene Model

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

AlphaFold

Q8BRF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021335
AA Change: V590A

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

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: V590A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000218138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219686

Meta Mutation Damage Score

0.8457

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.0%
20x: 90.5%

Validation Efficiency

97% (62/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,809,921	V635D	probably damaging	Het
Adgb	T	C	10: 10,450,036	I56M	probably damaging	Het
Adgrv1	A	T	13: 81,397,423	L5581*	probably null	Het
Arpc2	C	A	1: 74,262,486	H193N	probably benign	Het
B3galt5	A	G	16: 96,315,184	T6A	probably benign	Het
Bod1l	A	T	5: 41,818,760	V1737E	probably benign	Het
Cacfd1	T	G	2: 27,013,428		probably benign	Het
Cdc42ep4	A	T	11: 113,729,366	D66E	probably benign	Het
Cldn1	G	T	16: 26,363,219	T80N	probably damaging	Het
Cmtm1	C	A	8: 104,310,951		probably benign	Het
Cntnap5c	A	T	17: 58,104,698	I526F	probably benign	Het
Copb1	T	C	7: 114,236,797	K450E	probably benign	Het
Crebrf	A	C	17: 26,757,849	I416L	probably benign	Het
Csmd3	C	A	15: 48,314,012	V377F	possibly damaging	Het
Cyp1a2	T	C	9: 57,681,030	K304E	probably damaging	Het
Cyp2d26	A	G	15: 82,790,573	S403P	possibly damaging	Het
Cyp4a12a	T	A	4: 115,326,279	C198*	probably null	Het
Ddx11	A	G	17: 66,130,017	D102G	probably benign	Het
Dpys	T	A	15: 39,846,718	Q105L	probably null	Het
Dsn1	C	A	2: 156,996,242	R334L	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epha8	G	T	4: 136,931,743	H867N	probably damaging	Het
Ephb3	T	C	16: 21,222,031	L643P	probably damaging	Het
Fbxo44	G	T	4: 148,158,553	H83Q	probably benign	Het
Gm13102	T	C	4: 144,109,237	Y477H	possibly damaging	Het
Gm7347	T	C	5: 26,057,278	T82A	probably benign	Het
Gss	C	A	2: 155,587,465	A36S	probably benign	Het
Hepacam	A	G	9: 37,380,760	D128G	probably benign	Het
Hepacam2	C	A	6: 3,483,332	V226F	probably damaging	Het
Hgfac	T	C	5: 35,044,395	Y291H	probably damaging	Het
Ip6k2	G	A	9: 108,797,267	R88H	probably benign	Het
Irx5	T	A	8: 92,358,250	Y23N	probably damaging	Het
Kcnf1	T	C	12: 17,175,081	M380V	probably damaging	Het
Kcnj1	A	T	9: 32,394,104		probably benign	Het
Kcnk12	T	C	17: 87,746,736	E166G	probably damaging	Het
Kctd16	T	C	18: 40,258,943	C195R	probably damaging	Het
Kif28	T	A	1: 179,699,453	I718F	probably benign	Het
Lce1e	T	A	3: 92,707,933	K36*	probably null	Het
Map4	T	C	9: 110,034,619	L304P	probably benign	Het
Mettl17	C	T	14: 51,891,617		probably benign	Het
Mpp4	T	C	1: 59,121,359	D595G	probably damaging	Het
Myo18a	A	G	11: 77,841,523	K1282E	probably damaging	Het
Nf2	A	T	11: 4,816,137	V131D	possibly damaging	Het
Olfr147	A	T	9: 38,403,620	M249L	probably benign	Het
Olfr855	T	C	9: 19,585,434	V299A	probably benign	Het
Oxsr1	A	G	9: 119,264,777	L270S	probably benign	Het
Plekhg2	G	A	7: 28,362,884	T536I	probably damaging	Het
Ppp1r9a	T	A	6: 4,906,363	V306D	probably benign	Het
Ptk6	C	T	2: 181,195,812	C438Y	probably benign	Het
Serpina1b	A	G	12: 103,729,272	S337P	probably damaging	Het
Skor2	T	A	18: 76,858,927	C115S	unknown	Het
Slc2a7	T	C	4: 150,165,172	S407P	probably damaging	Het
Slc8a1	A	G	17: 81,648,254	S452P	probably damaging	Het
Spata31d1c	A	G	13: 65,035,079	D145G	possibly damaging	Het
Spata6	C	A	4: 111,774,827	T145K	probably damaging	Het
Stab1	C	T	14: 31,141,544	R2087H	probably benign	Het
Stk24	C	T	14: 121,302,245	V180M	probably benign	Het
Trrap	A	G	5: 144,844,241	T3271A	probably damaging	Het
Tyro3	T	A	2: 119,816,666	W755R	probably damaging	Het
Ush2a	T	C	1: 188,957,514		probably null	Het
Uts2b	T	C	16: 27,361,043		probably null	Het
Vmn2r105	T	A	17: 20,208,627	H729L	probably damaging	Het
Wdfy3	T	C	5: 101,851,359	I3068V	probably benign	Het
Zfp457	G	A	13: 67,293,699	H175Y	probably damaging	Het
Zfp758	A	G	17: 22,373,731	D40G	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
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
R5779:Scfd1	UTSW	12	51431529	missense	probably benign
R6000:Scfd1	UTSW	12	51445674	missense	possibly damaging	0.55
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'- AGACACTTCTCATTGTGAGTGATG -3'
(R):5'- ACCACCTCTTAGAAAGTAGTTATGC -3'

Sequencing Primer
(F):5'- TGCTATTACTGGATCGGATACTGCAG -3'
(R):5'- CCTCTTAGAAAGTAGTTATGCAGAGG -3'

Posted On

2017-06-26