Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00640:Scfd1'

13925

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

RA410, STXBP1L2, 3110021P21Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL00640

Quality Score

Status

Chromosome

Chromosomal Location

51424296-51496887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51436098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 82 (D82E)

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: D82E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: D82E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218131

Predicted Effect

probably benign
Transcript: ENSMUST00000219434
AA Change: D82E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219799

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,153 (GRCm39)	R50G	probably damaging	Het
Atr	T	C	9: 95,747,105 (GRCm39)	V129A	probably damaging	Het
Bltp1	C	A	3: 36,962,367 (GRCm39)	H489Q	probably damaging	Het
Chd9	A	G	8: 91,712,760 (GRCm39)	E388G	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Gabrg2	T	G	11: 41,862,599 (GRCm39)	I162L	possibly damaging	Het
Ly9	A	T	1: 171,429,447 (GRCm39)	V103D	possibly damaging	Het
Map3k9	G	A	12: 81,776,472 (GRCm39)	T603I	probably benign	Het
Mmrn1	T	C	6: 60,954,497 (GRCm39)	L926P	probably benign	Het
Vangl1	T	A	3: 102,065,545 (GRCm39)		probably benign	Het
Vps13b	A	T	15: 35,417,723 (GRCm39)	I120L	probably benign	Het

Other mutations in Scfd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Scfd1	APN	12	51,474,652 (GRCm39)	missense	probably benign	0.01
IGL01481:Scfd1	APN	12	51,430,903 (GRCm39)	missense	probably damaging	0.99
IGL01585:Scfd1	APN	12	51,462,336 (GRCm39)	missense	probably damaging	1.00
IGL01862:Scfd1	APN	12	51,492,494 (GRCm39)	missense	probably damaging	1.00
IGL02000:Scfd1	APN	12	51,460,900 (GRCm39)	missense	probably benign	0.03
IGL02226:Scfd1	APN	12	51,436,164 (GRCm39)	splice site	probably benign
IGL02327:Scfd1	APN	12	51,436,100 (GRCm39)	missense	possibly damaging	0.81
IGL02503:Scfd1	APN	12	51,469,704 (GRCm39)	missense	possibly damaging	0.90
IGL02585:Scfd1	APN	12	51,433,890 (GRCm39)	missense	probably damaging	0.97
IGL02732:Scfd1	APN	12	51,469,756 (GRCm39)	missense	probably benign	0.01
R0671:Scfd1	UTSW	12	51,459,411 (GRCm39)	missense	probably benign	0.01
R0707:Scfd1	UTSW	12	51,459,360 (GRCm39)	missense	probably damaging	0.98
R1467:Scfd1	UTSW	12	51,478,281 (GRCm39)	missense	possibly damaging	0.49
R1467:Scfd1	UTSW	12	51,478,281 (GRCm39)	missense	possibly damaging	0.49
R1962:Scfd1	UTSW	12	51,469,769 (GRCm39)	missense	probably benign	0.00
R2173:Scfd1	UTSW	12	51,433,862 (GRCm39)	missense	probably benign	0.22
R2249:Scfd1	UTSW	12	51,462,299 (GRCm39)	missense	possibly damaging	0.48
R3872:Scfd1	UTSW	12	51,438,979 (GRCm39)	missense	probably damaging	0.98
R4080:Scfd1	UTSW	12	51,478,302 (GRCm39)	missense	probably benign
R4356:Scfd1	UTSW	12	51,486,068 (GRCm39)	missense	probably benign	0.00
R4841:Scfd1	UTSW	12	51,436,109 (GRCm39)	missense	probably damaging	0.96
R4842:Scfd1	UTSW	12	51,436,109 (GRCm39)	missense	probably damaging	0.96
R4909:Scfd1	UTSW	12	51,437,195 (GRCm39)	missense	probably benign	0.00
R5004:Scfd1	UTSW	12	51,491,777 (GRCm39)	missense	probably benign	0.03
R5275:Scfd1	UTSW	12	51,462,372 (GRCm39)	missense	probably benign	0.19
R5494:Scfd1	UTSW	12	51,443,522 (GRCm39)	splice site	probably null
R5779:Scfd1	UTSW	12	51,478,312 (GRCm39)	missense	probably benign
R6000:Scfd1	UTSW	12	51,492,457 (GRCm39)	missense	possibly damaging	0.55
R6017:Scfd1	UTSW	12	51,492,461 (GRCm39)	missense	probably damaging	1.00
R6522:Scfd1	UTSW	12	51,478,324 (GRCm39)	missense	probably benign	0.04
R6954:Scfd1	UTSW	12	51,474,729 (GRCm39)	critical splice donor site	probably null
R7748:Scfd1	UTSW	12	51,436,140 (GRCm39)	missense	probably benign	0.21
R7993:Scfd1	UTSW	12	51,492,490 (GRCm39)	missense	probably damaging	1.00
R8122:Scfd1	UTSW	12	51,480,052 (GRCm39)	missense	possibly damaging	0.95
R8353:Scfd1	UTSW	12	51,459,374 (GRCm39)	missense	possibly damaging	0.91
R8453:Scfd1	UTSW	12	51,459,374 (GRCm39)	missense	possibly damaging	0.91
R8890:Scfd1	UTSW	12	51,474,678 (GRCm39)	missense	probably benign
R9284:Scfd1	UTSW	12	51,439,024 (GRCm39)	missense	probably benign	0.00
R9294:Scfd1	UTSW	12	51,440,649 (GRCm39)	missense	possibly damaging	0.76
RF007:Scfd1	UTSW	12	51,469,756 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06