Mutagenetix > Incidental Mutation

Incidental Mutation 'R7678:Scfd2'

592574

Institutional Source

Beutler Lab

Gene Symbol

Scfd2

Ensembl Gene

ENSMUSG00000062110

Gene Name

Sec1 family domain containing 2

Synonyms

E430013M20Rik, STXBP1L1

MMRRC Submission

045745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7678 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74365477-74692420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 74619297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 440 (F440V)

Ref Sequence

ENSEMBL: ENSMUSP00000121098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072857] [ENSMUST00000075848] [ENSMUST00000113542] [ENSMUST00000151474]

AlphaFold

Q8BTY8

Predicted Effect

probably benign
Transcript: ENSMUST00000072857

SMART Domains

Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110

Domain	Start	End	E-Value	Type
Pfam:Sec1	25	668	1.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075848
AA Change: F440V

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

SMART Domains

Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: F440V

Domain	Start	End	E-Value	Type
low complexity region	458	471	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113542

SMART Domains

Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110

Domain	Start	End	E-Value	Type
low complexity region	471	479	N/A	INTRINSIC
low complexity region	506	516	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151474
AA Change: F440V

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

SMART Domains

Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: F440V

Domain	Start	End	E-Value	Type
low complexity region	458	471	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	C	A	5: 8,137,750 (GRCm39)		probably null	Het
Ank1	A	G	8: 23,607,074 (GRCm39)	D1325G	probably damaging	Het
Asxl1	T	C	2: 153,242,572 (GRCm39)	S1042P	probably damaging	Het
Bpifb1	C	T	2: 154,044,649 (GRCm39)	H39Y	possibly damaging	Het
Capn13	C	A	17: 73,622,300 (GRCm39)	M663I	probably damaging	Het
Cemip2	C	A	19: 21,775,480 (GRCm39)	T241K	probably damaging	Het
Clec2g	A	G	6: 128,956,400 (GRCm39)	E72G	probably damaging	Het
Col12a1	T	A	9: 79,558,768 (GRCm39)	Y1899F	probably damaging	Het
Ctbp2	A	G	7: 132,616,353 (GRCm39)	V194A	probably benign	Het
Cttnbp2	G	T	6: 18,382,809 (GRCm39)	L1320I	probably damaging	Het
E2f2	T	A	4: 135,920,137 (GRCm39)	L374*	probably null	Het
Echdc3	C	T	2: 6,217,687 (GRCm39)	G29S	probably benign	Het
Ecm1	A	G	3: 95,643,494 (GRCm39)	S269P	probably damaging	Het
Elmo2	G	A	2: 165,133,664 (GRCm39)	P775S	unknown	Het
Eno3	T	A	11: 70,549,993 (GRCm39)		probably null	Het
Faf1	G	A	4: 109,687,061 (GRCm39)	R267K	probably benign	Het
Fam162a	G	A	16: 35,870,307 (GRCm39)		probably benign	Het
Fam178b	T	A	1: 36,603,532 (GRCm39)	D473V	probably damaging	Het
Fat2	G	A	11: 55,173,156 (GRCm39)	T2519I	probably damaging	Het
Foxc2	A	G	8: 121,844,834 (GRCm39)	Y494C	probably damaging	Het
Gcnt2	C	A	13: 41,107,195 (GRCm39)	Q355K	probably benign	Het
Glg1	G	T	8: 111,905,497 (GRCm39)	H595N	probably benign	Het
Gm9913	A	T	2: 125,348,480 (GRCm39)	H97L	unknown	Het
Hbegf	T	A	18: 36,640,601 (GRCm39)	N152I	possibly damaging	Het
Hipk1	G	A	3: 103,667,866 (GRCm39)	T567I	probably damaging	Het
Idh3a	C	T	9: 54,502,453 (GRCm39)	P78S	probably damaging	Het
Igsf10	A	T	3: 59,226,761 (GRCm39)	M2304K	possibly damaging	Het
Inf2	A	G	12: 112,573,428 (GRCm39)	T723A	unknown	Het
Itpr2	A	T	6: 146,089,048 (GRCm39)	F2220Y	probably benign	Het
Kpnb1	C	T	11: 97,059,999 (GRCm39)	R557Q	probably damaging	Het
Lefty1	A	G	1: 180,764,325 (GRCm39)	D155G	probably damaging	Het
Lrp1	A	G	10: 127,409,922 (GRCm39)	C1554R	probably damaging	Het
Lrrc10	A	G	10: 116,881,662 (GRCm39)	D112G	probably benign	Het
Med12l	A	G	3: 58,984,141 (GRCm39)	E439G	probably damaging	Het
Ms4a7	A	T	19: 11,301,868 (GRCm39)	F185Y	probably benign	Het
Mtmr6	T	A	14: 60,527,101 (GRCm39)	M234K	probably damaging	Het
Myh7b	C	A	2: 155,459,698 (GRCm39)		probably null	Het
Myo1d	T	C	11: 80,567,719 (GRCm39)	M254V	possibly damaging	Het
Nbas	T	C	12: 13,465,662 (GRCm39)	V1368A	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Neb	A	G	2: 52,096,714 (GRCm39)	V4999A	probably damaging	Het
Npbwr1	G	T	1: 5,986,927 (GRCm39)	Q196K	probably benign	Het
Nsd3	A	T	8: 26,149,833 (GRCm39)	E339D	possibly damaging	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or11g1	T	C	14: 50,651,471 (GRCm39)	F157L	probably damaging	Het
Or6c206	A	G	10: 129,096,937 (GRCm39)	S36G	probably damaging	Het
Or7d11	T	C	9: 19,965,901 (GRCm39)	N168S	probably damaging	Het
Plxna1	C	T	6: 89,308,882 (GRCm39)	V1199M	probably damaging	Het
Ppfibp2	T	A	7: 107,315,873 (GRCm39)	M285K	probably damaging	Het
Ppip5k1	A	G	2: 121,168,142 (GRCm39)	Y704H	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Sbspon	T	C	1: 15,929,282 (GRCm39)	M170V	probably benign	Het
Slc22a19	T	A	19: 7,688,302 (GRCm39)	D86V	possibly damaging	Het
Smg5	A	G	3: 88,261,202 (GRCm39)	N685S	possibly damaging	Het
Spata46	A	G	1: 170,139,333 (GRCm39)	R111G	possibly damaging	Het
Sry	A	T	Y: 2,663,248 (GRCm39)	D137E	possibly damaging	Het
Tbkbp1	T	C	11: 97,040,309 (GRCm39)	D35G	probably damaging	Het
Tcf20	A	T	15: 82,735,766 (GRCm39)	V1895D	possibly damaging	Het
Tfap4	G	T	16: 4,369,630 (GRCm39)	Q112K	possibly damaging	Het
Trmt10c	T	A	16: 55,855,302 (GRCm39)	D111V	probably benign	Het
Unc80	T	C	1: 66,688,881 (GRCm39)	I2415T	probably benign	Het
Vmn2r107	A	T	17: 20,576,901 (GRCm39)	M300L	probably benign	Het
Vmn2r5	A	T	3: 64,416,943 (GRCm39)	F72I	probably benign	Het
Vmn2r53	T	A	7: 12,332,425 (GRCm39)	H408L	probably benign	Het
Zan	C	T	5: 137,461,802 (GRCm39)	V1126M	unknown	Het
Zfp493	A	T	13: 67,927,814 (GRCm39)		probably benign	Het
Zfp618	C	A	4: 63,004,858 (GRCm39)	A86E	probably benign	Het

Other mutations in Scfd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Scfd2	APN	5	74,691,595 (GRCm39)	missense	possibly damaging	0.67
IGL01094:Scfd2	APN	5	74,691,707 (GRCm39)	missense	possibly damaging	0.69
IGL02928:Scfd2	APN	5	74,691,832 (GRCm39)	missense	probably damaging	1.00
IGL03365:Scfd2	APN	5	74,691,596 (GRCm39)	missense	possibly damaging	0.67
BB009:Scfd2	UTSW	5	74,692,211 (GRCm39)	missense	probably benign	0.33
BB019:Scfd2	UTSW	5	74,692,211 (GRCm39)	missense	probably benign	0.33
P0035:Scfd2	UTSW	5	74,385,980 (GRCm39)	missense	possibly damaging	0.89
R1696:Scfd2	UTSW	5	74,691,539 (GRCm39)	missense	probably benign
R1857:Scfd2	UTSW	5	74,372,962 (GRCm39)	nonsense	probably null
R2136:Scfd2	UTSW	5	74,367,028 (GRCm39)	missense	probably benign	0.01
R2205:Scfd2	UTSW	5	74,386,028 (GRCm39)	missense	possibly damaging	0.93
R2504:Scfd2	UTSW	5	74,691,838 (GRCm39)	missense	probably damaging	1.00
R3864:Scfd2	UTSW	5	74,558,381 (GRCm39)	missense	possibly damaging	0.49
R4439:Scfd2	UTSW	5	74,558,368 (GRCm39)	missense	possibly damaging	0.69
R4590:Scfd2	UTSW	5	74,372,917 (GRCm39)	missense	probably benign	0.01
R4703:Scfd2	UTSW	5	74,680,256 (GRCm39)	missense	probably benign	0.00
R4901:Scfd2	UTSW	5	74,680,226 (GRCm39)	missense	probably damaging	1.00
R4916:Scfd2	UTSW	5	74,623,319 (GRCm39)	missense	probably damaging	1.00
R4970:Scfd2	UTSW	5	74,366,982 (GRCm39)	missense	probably benign	0.15
R5112:Scfd2	UTSW	5	74,366,982 (GRCm39)	missense	probably benign	0.15
R5474:Scfd2	UTSW	5	74,692,025 (GRCm39)	missense	probably benign	0.24
R5706:Scfd2	UTSW	5	74,367,059 (GRCm39)	splice site	probably null
R5766:Scfd2	UTSW	5	74,623,312 (GRCm39)	missense	probably damaging	1.00
R6769:Scfd2	UTSW	5	74,692,117 (GRCm39)	missense	probably benign	0.01
R6771:Scfd2	UTSW	5	74,692,117 (GRCm39)	missense	probably benign	0.01
R6961:Scfd2	UTSW	5	74,680,202 (GRCm39)	missense	possibly damaging	0.86
R6963:Scfd2	UTSW	5	74,642,870 (GRCm39)	missense	probably damaging	1.00
R7151:Scfd2	UTSW	5	74,558,326 (GRCm39)	missense	possibly damaging	0.56
R7159:Scfd2	UTSW	5	74,692,004 (GRCm39)	missense	probably benign	0.01
R7510:Scfd2	UTSW	5	74,372,988 (GRCm39)	missense	probably damaging	1.00
R7602:Scfd2	UTSW	5	74,623,271 (GRCm39)	missense	probably benign	0.32
R7932:Scfd2	UTSW	5	74,692,211 (GRCm39)	missense	probably benign	0.33
R8074:Scfd2	UTSW	5	74,680,257 (GRCm39)	missense	probably benign	0.00
R8088:Scfd2	UTSW	5	74,692,024 (GRCm39)	missense	probably benign	0.12
R8511:Scfd2	UTSW	5	74,372,949 (GRCm39)	missense	possibly damaging	0.84
R8725:Scfd2	UTSW	5	74,642,900 (GRCm39)	missense	probably benign	0.01
R8837:Scfd2	UTSW	5	74,691,656 (GRCm39)	missense	probably benign	0.19
R9015:Scfd2	UTSW	5	74,691,625 (GRCm39)	missense	probably damaging	1.00
R9055:Scfd2	UTSW	5	74,691,931 (GRCm39)	missense	possibly damaging	0.50
R9336:Scfd2	UTSW	5	74,692,006 (GRCm39)	missense	probably damaging	1.00
R9489:Scfd2	UTSW	5	74,680,235 (GRCm39)	missense	probably damaging	1.00
R9691:Scfd2	UTSW	5	74,691,611 (GRCm39)	missense	possibly damaging	0.82
R9719:Scfd2	UTSW	5	74,386,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACGTTAAGATCTTCGGAGC -3'
(R):5'- AGAGTTACCTGGACTTCTGCTTG -3'

Sequencing Primer
(F):5'- CGTTAAGATCTTCGGAGCACAGG -3'
(R):5'- GTCGTGTTAATAGTATGGCTAACC -3'

Posted On

2019-11-12