Mutagenetix > Incidental Mutation

Incidental Mutation 'P0035:Scfd2'

7767

Institutional Source

Beutler Lab

Gene Symbol

Scfd2

Ensembl Gene

ENSMUSG00000062110

Gene Name

Sec1 family domain containing 2

Synonyms

E430013M20Rik, STXBP1L1

MMRRC Submission

038285-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

P0035 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74365477-74692420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74385980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 613 (M613K)

Ref Sequence

ENSEMBL: ENSMUSP00000109170 (fasta)

Gene Model

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

AlphaFold

Q8BTY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072857
AA Change: M613K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: M613K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113542
AA Change: M613K

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: M613K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202465

Meta Mutation Damage Score

0.3415

Coding Region Coverage

1x: 79.0%
3x: 68.4%
10x: 37.5%
20x: 15.8%

Validation Efficiency

82% (103/125)

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brd4	C	T	17: 32,431,812 (GRCm39)		probably null	Het
Bub1b	G	A	2: 118,452,666 (GRCm39)	E440K	probably damaging	Het
Cfap70	A	G	14: 20,474,539 (GRCm39)		probably benign	Het
Cryba2	A	G	1: 74,929,171 (GRCm39)	S191P	probably damaging	Het
Dsg3	A	C	18: 20,673,026 (GRCm39)	N899T	probably benign	Het
Htr2b	A	T	1: 86,038,452 (GRCm39)	H51Q	probably benign	Het
Lmod2	T	C	6: 24,597,885 (GRCm39)	S2P	probably damaging	Het
Lrrc37a	T	A	11: 103,393,958 (GRCm39)	E489V	possibly damaging	Het
Mdn1	A	T	4: 32,749,934 (GRCm39)	Q4372H	probably benign	Het
Med13l	C	T	5: 118,880,685 (GRCm39)	T1259I	probably benign	Het
Muc4	T	C	16: 32,580,622 (GRCm39)		probably benign	Het
Pcsk2	C	T	2: 143,637,871 (GRCm39)	T369I	probably damaging	Het
Pggt1b	G	C	18: 46,392,787 (GRCm39)	H121Q	probably damaging	Het
Pkhd1	T	C	1: 20,187,571 (GRCm39)	D3579G	probably benign	Het
Psd	T	C	19: 46,309,400 (GRCm39)	E520G	possibly damaging	Het
Tbc1d32	A	C	10: 56,074,535 (GRCm39)	F226C	probably damaging	Het
Ttc8	T	C	12: 98,942,675 (GRCm39)		probably benign	Het
Zfp462	T	C	4: 55,009,086 (GRCm39)	S351P	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
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
R7678:Scfd2	UTSW	5	74,619,297 (GRCm39)	missense	probably benign
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

Posted On

2012-10-29