Mutagenetix > Incidental Mutation

Incidental Mutation 'R8074:Scfd2'

620404

Institutional Source

Beutler Lab

Gene Symbol

Scfd2

Ensembl Gene

ENSMUSG00000062110

Gene Name

Sec1 family domain containing 2

Synonyms

E430013M20Rik, STXBP1L1

MMRRC Submission

067508-MU

Accession Numbers

Essential gene?

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

Stock #

R8074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74365477-74692420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74680257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 299 (Q299K)

Ref Sequence

ENSEMBL: ENSMUSP00000072636 (fasta)

Gene Model

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

AlphaFold

Q8BTY8

Predicted Effect

probably benign
Transcript: ENSMUST00000072857
AA Change: Q299K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: Q299K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075848
AA Change: Q299K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: Q299K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113542
AA Change: Q299K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: Q299K

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: Q299K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: Q299K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,829,320 (GRCm39)	I1380L	probably benign	Het
Adcy3	T	C	12: 4,184,420 (GRCm39)	V32A	probably benign	Het
Ano3	T	A	2: 110,780,577 (GRCm39)		probably benign	Het
Arhgef12	G	A	9: 42,882,399 (GRCm39)	R1482*	probably null	Het
Cd300lg	T	G	11: 101,932,427 (GRCm39)	L4R	probably damaging	Het
Cfap57	T	A	4: 118,426,822 (GRCm39)	K1072M	possibly damaging	Het
Clasp1	G	T	1: 118,390,213 (GRCm39)	M132I	probably benign	Het
Clec18a	T	G	8: 111,798,230 (GRCm39)	D489A	probably damaging	Het
Cngb1	A	G	8: 95,978,801 (GRCm39)	S551P		Het
Efna4	G	A	3: 89,242,633 (GRCm39)	T87M	probably benign	Het
Fam229b	T	C	10: 38,996,255 (GRCm39)	R42G	probably null	Het
Gm17175	C	T	14: 51,809,080 (GRCm39)	M95I	probably damaging	Het
Grk4	A	G	5: 34,833,482 (GRCm39)	E96G	probably benign	Het
Helb	A	C	10: 119,925,321 (GRCm39)	F1019V	probably benign	Het
Hsd17b2	T	C	8: 118,485,440 (GRCm39)	V301A	possibly damaging	Het
Htr1b	A	G	9: 81,513,582 (GRCm39)	F342L	probably benign	Het
Idua	C	A	5: 108,828,441 (GRCm39)	A265E	possibly damaging	Het
Jup	T	G	11: 100,277,113 (GRCm39)	T32P	probably damaging	Het
Kidins220	A	G	12: 25,107,715 (GRCm39)	K1632E	probably benign	Het
Lef1	G	A	3: 130,997,954 (GRCm39)		probably null	Het
Lypla2	A	G	4: 135,697,112 (GRCm39)		probably null	Het
Mall	A	G	2: 127,571,785 (GRCm39)	M1T	probably null	Het
Mettl25	G	T	10: 105,661,941 (GRCm39)	A343E	probably benign	Het
Mpdz	T	C	4: 81,267,324 (GRCm39)	N940S	probably benign	Het
Nsun4	A	T	4: 115,908,631 (GRCm39)	V643D	possibly damaging	Het
Nupr1	A	T	7: 126,224,109 (GRCm39)	F70Y	possibly damaging	Het
Or1e17	T	A	11: 73,831,213 (GRCm39)	V47D	possibly damaging	Het
Or52b4i	A	G	7: 102,191,830 (GRCm39)	H229R	probably benign	Het
Or52e8	A	T	7: 104,624,934 (GRCm39)	I90N	probably damaging	Het
Or5ac20	A	G	16: 59,104,549 (GRCm39)	F104L	probably benign	Het
Or8g32	A	T	9: 39,305,242 (GRCm39)	I49F	probably damaging	Het
Or8k3	C	G	2: 86,058,473 (GRCm39)	V281L	possibly damaging	Het
Pabpc4	A	T	4: 123,180,508 (GRCm39)	M77L	probably benign	Het
Phactr3	A	G	2: 177,944,589 (GRCm39)	E429G	probably damaging	Het
Polr3b	A	G	10: 84,549,523 (GRCm39)	D915G	probably damaging	Het
Pramel14	A	T	4: 143,718,424 (GRCm39)	F340I	probably benign	Het
Prkcg	T	A	7: 3,372,037 (GRCm39)	M501K	probably damaging	Het
Prkch	G	A	12: 73,747,041 (GRCm39)	A307T	possibly damaging	Het
Ptprt	A	G	2: 161,769,581 (GRCm39)	V428A	possibly damaging	Het
Rnf145	C	A	11: 44,448,263 (GRCm39)	D373E	probably damaging	Het
Septin2	A	G	1: 93,433,283 (GRCm39)	D315G	probably benign	Het
Sf3a1	T	A	11: 4,125,435 (GRCm39)	Y408*	probably null	Het
Siglecf	A	T	7: 43,001,214 (GRCm39)	N61Y	possibly damaging	Het
Sis	A	T	3: 72,824,531 (GRCm39)	I1334K	probably damaging	Het
Slc38a6	A	T	12: 73,391,658 (GRCm39)	T307S	possibly damaging	Het
Spag9	T	A	11: 94,002,877 (GRCm39)	F1129Y	probably damaging	Het
Sra1	G	A	18: 36,808,064 (GRCm39)	A388V	possibly damaging	Het
Srpk1	T	G	17: 28,840,990 (GRCm39)	K12T	probably damaging	Het
Stam2	A	T	2: 52,596,438 (GRCm39)	I333K	probably damaging	Het
Tle1	GAA	GA	4: 72,057,216 (GRCm39)		probably null	Het
Tmem121b	T	C	6: 120,469,869 (GRCm39)	K283E	possibly damaging	Het
Tmem200a	T	C	10: 25,868,850 (GRCm39)	E473G	probably damaging	Het
Tnxb	T	A	17: 34,922,955 (GRCm39)	S2513T	probably benign	Het
Ttc16	A	T	2: 32,664,135 (GRCm39)		probably benign	Het
Ttll8	C	T	15: 88,799,578 (GRCm39)	C621Y	probably damaging	Het
Ubn2	T	A	6: 38,417,475 (GRCm39)	M171K	probably benign	Het
Vmn2r19	T	A	6: 123,312,904 (GRCm39)	V658D	probably damaging	Het
Vmn2r6	A	T	3: 64,455,064 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,398,321 (GRCm39)	I941L	probably benign	Het
Zbtb24	A	G	10: 41,327,228 (GRCm39)	D38G	probably damaging	Het
Zfp628	T	C	7: 4,923,205 (GRCm39)	C476R	probably damaging	Het
Zfp831	A	C	2: 174,486,528 (GRCm39)	N401T	possibly damaging	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
R7678:Scfd2	UTSW	5	74,619,297 (GRCm39)	missense	probably benign
R7932:Scfd2	UTSW	5	74,692,211 (GRCm39)	missense	probably benign	0.33
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'- TCCTTTCTACAGAGAAGGAAGAGG -3'
(R):5'- GCTGATTTGCTAGGTAATTGAGAAC -3'

Sequencing Primer
(F):5'- TTCTACAGAGAAGGAAGAGGATGAAG -3'
(R):5'- AAGAGCAAACTTCTATGTTGGTG -3'

Posted On

2020-01-23