Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Scfd1'

316828

Institutional Source

Beutler Lab

Gene Symbol

Scfd1

Ensembl Gene

ENSMUSG00000020952

Gene Name

Sec1 family domain containing 1

Synonyms

RA410, STXBP1L2, 3110021P21Rik

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51424296-51496887 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51478302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 505 (S505G)

Ref Sequence

ENSEMBL: ENSMUSP00000021335 (fasta)

Gene Model

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

AlphaFold

Q8BRF7

Predicted Effect

probably benign
Transcript: ENSMUST00000021335
AA Change: S505G

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

SMART Domains

Protein: ENSMUSP00000021335
Gene: ENSMUSG00000020952
AA Change: S505G

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

Predicted Effect

unknown
Transcript: ENSMUST00000218138
AA Change: S86G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219686

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Aim2	T	C	1: 173,287,417 (GRCm39)		probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	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
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
R3872:Scfd1	UTSW	12	51,438,979 (GRCm39)	missense	probably damaging	0.98
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'- TTCTGGCACTGAGTTACCTCCAG -3'
(R):5'- AGCTATTCCAGGAAGCCAGG -3'

Sequencing Primer
(F):5'- GCTGTGCATTAGGGAATCTCAG -3'
(R):5'- CCAGGAAAACGTTGACATTCTG -3'

Posted On

2015-05-15