Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Scfd2'

235800

Institutional Source

Beutler Lab

Gene Symbol

Scfd2

Ensembl Gene

ENSMUSG00000062110

Gene Name

Sec1 family domain containing 2

Synonyms

E430013M20Rik, STXBP1L1

MMRRC Submission

040139-MU

Accession Numbers

Essential gene?

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

Stock #

R2136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74365477-74692420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74367028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 624 (K624R)

Ref Sequence

ENSEMBL: ENSMUSP00000109170 (fasta)

Gene Model

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

AlphaFold

Q8BTY8

Predicted Effect

probably benign
Transcript: ENSMUST00000072857
AA Change: K664R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: K664R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113542
AA Change: K624R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: K624R

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Acap3	T	C	4: 155,981,369 (GRCm39)	L85P	probably damaging	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cwh43	A	G	5: 73,572,397 (GRCm39)	I212V	probably benign	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Grsf1	A	G	5: 88,820,517 (GRCm39)	V7A	probably benign	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pan2	T	G	10: 128,149,506 (GRCm39)	V522G	possibly damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,898,527 (GRCm39)	I645N	probably damaging	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAAGACCCAGTCCAGTCC -3'
(R):5'- TAGGACCCAGGTCATAGATGAG -3'

Sequencing Primer
(F):5'- CCTCTCTGGTAGAATTAAGTCATACC -3'
(R):5'- TCATAGATGAGGGACCCTGAGTC -3'

Posted On

2014-10-01