Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Scfd1'

276633

Institutional Source

Beutler Lab

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

RA410, STXBP1L2, 3110021P21Rik

MMRRC Submission

040790-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51424296-51496887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51438979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 147 (Y147C)

Ref Sequence

ENSEMBL: ENSMUSP00000151347 (fasta)

Gene Model

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

AlphaFold

Q8BRF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000021335
AA Change: Y147C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: Y147C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218131

Predicted Effect

probably damaging
Transcript: ENSMUST00000219434
AA Change: Y147C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219799

Meta Mutation Damage Score

0.9585

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,045 (GRCm39)	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201 (GRCm39)		noncoding transcript	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cic	T	C	7: 24,971,124 (GRCm39)	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,614,408 (GRCm39)		probably benign	Het
Col6a4	T	C	9: 105,890,858 (GRCm39)	N1812S	possibly damaging	Het
Cry1	T	C	10: 84,969,024 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209 (GRCm39)	P274T	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,656 (GRCm39)	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,926,056 (GRCm39)	Y710C	probably damaging	Het
Dsc3	C	A	18: 20,104,565 (GRCm39)	K587N	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Epcam	C	A	17: 87,947,354 (GRCm39)	T36K	possibly damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
Eya4	A	T	10: 23,031,870 (GRCm39)	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,138,394 (GRCm39)	V447I	possibly damaging	Het
Firrm	A	T	1: 163,814,533 (GRCm39)	S137T	probably damaging	Het
Frg2f1	T	A	4: 119,388,155 (GRCm39)	T115S	possibly damaging	Het
Hecw2	A	T	1: 53,871,916 (GRCm39)		probably benign	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Iqca1	A	T	1: 90,017,203 (GRCm39)	Y411N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt34	T	C	11: 99,932,243 (GRCm39)	H27R	probably benign	Het
Mia3	T	C	1: 183,138,342 (GRCm39)	E791G	probably benign	Het
Mroh2b	A	T	15: 4,954,543 (GRCm39)	K669*	probably null	Het
Msmo1	C	T	8: 65,175,497 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,226,867 (GRCm39)	T1387A	probably benign	Het
Myo1g	C	T	11: 6,464,886 (GRCm39)	V463I	possibly damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Pde10a	C	A	17: 8,975,923 (GRCm39)	T16K	possibly damaging	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Phb2	G	A	6: 124,693,394 (GRCm39)		probably null	Het
Plin3	A	G	17: 56,591,181 (GRCm39)	S200P	probably damaging	Het
Plxna1	C	A	6: 89,309,674 (GRCm39)	E1087*	probably null	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sacs	C	T	14: 61,385,517 (GRCm39)	T6M	probably benign	Het
Septin1	T	C	7: 126,814,447 (GRCm39)		probably benign	Het
Septin5	A	G	16: 18,441,723 (GRCm39)	L344P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc35f1	A	G	10: 52,898,006 (GRCm39)	D139G	possibly damaging	Het
Sod3	A	G	5: 52,525,631 (GRCm39)	Y110C	probably damaging	Het
Stk35	T	C	2: 129,652,495 (GRCm39)	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,224,152 (GRCm39)	T279M	probably benign	Het
Tdo2	T	C	3: 81,875,393 (GRCm39)	E187G	probably benign	Het
Tmem150b	A	T	7: 4,727,360 (GRCm39)	Y48*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 41,785,878 (GRCm39)	S227L	probably benign	Het
Vps33a	C	T	5: 123,669,255 (GRCm39)	V549I	probably benign	Het
Zfp788	T	A	7: 41,298,868 (GRCm39)	Y449*	probably null	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
IGL00640:Scfd1	APN	12	51,436,098 (GRCm39)	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGTTATCCTGCTACTTGGC -3'
(R):5'- CAGAGAGCTGGTACTTAACTGAATTAC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- GCTGGTACTTAACTGAATTACAAACC -3'

Posted On

2015-04-06