Mutagenetix > Incidental Mutation

Incidental Mutation 'R7159:Scfd2'

557494

Institutional Source

Beutler Lab

Gene Symbol

Scfd2

Ensembl Gene

ENSMUSG00000062110

Gene Name

Sec1 family domain containing 2

Synonyms

E430013M20Rik, STXBP1L1

MMRRC Submission

045259-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74365477-74692420 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74692004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 93 (I93V)

Ref Sequence

ENSEMBL: ENSMUSP00000072636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072857] [ENSMUST00000075848] [ENSMUST00000080164] [ENSMUST00000113534] [ENSMUST00000113535] [ENSMUST00000113536] [ENSMUST00000113542] [ENSMUST00000120618] [ENSMUST00000151474]

AlphaFold

Q8BTY8

Predicted Effect

probably benign
Transcript: ENSMUST00000072857
AA Change: I93V

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000072636
Gene: ENSMUSG00000062110
AA Change: I93V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075848
AA Change: I93V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000075245
Gene: ENSMUSG00000062110
AA Change: I93V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080164

SMART Domains

Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.2e-28	PFAM
low complexity region	296	357	N/A	INTRINSIC
low complexity region	405	441	N/A	INTRINSIC
low complexity region	453	507	N/A	INTRINSIC
low complexity region	510	523	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113534

SMART Domains

Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.1e-28	PFAM
low complexity region	270	290	N/A	INTRINSIC
low complexity region	355	405	N/A	INTRINSIC
low complexity region	455	491	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113535

SMART Domains

Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	6.4e-29	PFAM
low complexity region	296	346	N/A	INTRINSIC
low complexity region	396	432	N/A	INTRINSIC
low complexity region	444	498	N/A	INTRINSIC
low complexity region	501	514	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113536

SMART Domains

Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	44	53	N/A	INTRINSIC
low complexity region	78	94	N/A	INTRINSIC
Pfam:Fip1	152	196	1.3e-28	PFAM
low complexity region	247	267	N/A	INTRINSIC
low complexity region	332	393	N/A	INTRINSIC
low complexity region	441	477	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC
low complexity region	546	559	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113542
AA Change: I93V

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

SMART Domains

Protein: ENSMUSP00000109170
Gene: ENSMUSG00000062110
AA Change: I93V

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: ENSMUST00000120618

SMART Domains

Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227

Domain	Start	End	E-Value	Type
low complexity region	29	38	N/A	INTRINSIC
low complexity region	63	79	N/A	INTRINSIC
Pfam:Fip1	137	181	2e-29	PFAM
low complexity region	255	275	N/A	INTRINSIC
low complexity region	340	401	N/A	INTRINSIC
low complexity region	449	485	N/A	INTRINSIC
low complexity region	497	551	N/A	INTRINSIC
low complexity region	554	567	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151474
AA Change: I93V

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000121098
Gene: ENSMUSG00000062110
AA Change: I93V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (70/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,380,327 (GRCm39)	V500E	possibly damaging	Het
Ankrd34b	T	C	13: 92,575,970 (GRCm39)	S401P	probably benign	Het
Arfgef2	T	A	2: 166,668,848 (GRCm39)	D41E	probably benign	Het
Arid1a	T	C	4: 133,480,879 (GRCm39)	N15S	unknown	Het
Arsa	A	T	15: 89,358,921 (GRCm39)		probably null	Het
B3gnt9	C	A	8: 105,981,064 (GRCm39)	C108F	probably damaging	Het
Bbc3	C	A	7: 16,047,733 (GRCm39)	Y152*	probably null	Het
Btbd1	T	C	7: 81,467,957 (GRCm39)	M188V	probably benign	Het
Caln1	C	T	5: 130,851,838 (GRCm39)	T209I	probably benign	Het
Casp12	C	T	9: 5,353,763 (GRCm39)	P266S	possibly damaging	Het
Ccm2l	A	T	2: 152,912,787 (GRCm39)	I109F	probably damaging	Het
Chst15	A	C	7: 131,871,987 (GRCm39)	L98R	probably damaging	Het
Ctsq	A	G	13: 61,186,737 (GRCm39)	M89T	probably benign	Het
Ddx39b	T	C	17: 35,465,986 (GRCm39)	V169A	probably benign	Het
Fhad1	T	C	4: 141,678,927 (GRCm39)	H583R	probably benign	Het
Fndc1	T	A	17: 8,019,763 (GRCm39)	I139F	probably damaging	Het
Gm7145	C	G	1: 117,913,561 (GRCm39)	H148D	probably benign	Het
Gpr62	C	A	9: 106,342,641 (GRCm39)	A96S	probably damaging	Het
Gsap	T	A	5: 21,475,618 (GRCm39)		probably null	Het
Hdhd5	T	A	6: 120,500,432 (GRCm39)	T89S	probably damaging	Het
Kcna5	T	A	6: 126,510,592 (GRCm39)	Y512F	probably damaging	Het
Krt84	C	A	15: 101,438,044 (GRCm39)	E304*	probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lrp6	C	A	6: 134,484,514 (GRCm39)	V370L	probably benign	Het
Lrrc3c	G	A	11: 98,490,144 (GRCm39)	G167D	probably damaging	Het
Man2b1	C	T	8: 85,813,909 (GRCm39)	T291M	probably benign	Het
Mapkbp1	A	G	2: 119,855,613 (GRCm39)	E1438G	possibly damaging	Het
Med12l	A	G	3: 59,183,438 (GRCm39)	T1947A	probably benign	Het
Myh15	A	T	16: 48,881,937 (GRCm39)	T60S	probably damaging	Het
Myo5a	A	T	9: 75,078,845 (GRCm39)	I868F	probably benign	Het
Myom3	A	T	4: 135,536,162 (GRCm39)	I1278F	probably damaging	Het
Nbn	G	T	4: 15,983,677 (GRCm39)		probably null	Het
Ncam2	G	T	16: 81,287,262 (GRCm39)	S392I	probably damaging	Het
Nrg3	A	C	14: 38,092,692 (GRCm39)	L647*	probably null	Het
Or10j7	A	T	1: 173,011,890 (GRCm39)	L37Q	possibly damaging	Het
Or2t35	T	C	14: 14,407,251 (GRCm38)	S8P	possibly damaging	Het
Or2y1g	A	T	11: 49,171,185 (GRCm39)	D70V	probably damaging	Het
Or8j3c	T	A	2: 86,253,956 (GRCm39)		probably null	Het
Pcdhb9	A	G	18: 37,534,545 (GRCm39)	N180D	possibly damaging	Het
Pcdhga4	A	G	18: 37,819,972 (GRCm39)	N507S	probably damaging	Het
Pdilt	A	G	7: 119,087,174 (GRCm39)	V492A	probably benign	Het
Phf12	A	G	11: 77,914,366 (GRCm39)	T603A	possibly damaging	Het
Phox2b	T	A	5: 67,254,928 (GRCm39)	I174F	probably benign	Het
Polq	A	T	16: 36,883,215 (GRCm39)	Q1793L	possibly damaging	Het
Prmt9	T	C	8: 78,282,393 (GRCm39)	F97L	probably benign	Het
Prpsap1	T	C	11: 116,384,870 (GRCm39)	E13G	probably benign	Het
Ptpru	A	G	4: 131,546,851 (GRCm39)	L280P	probably damaging	Het
Pygl	A	T	12: 70,244,180 (GRCm39)	M587K	probably benign	Het
Rc3h2	T	C	2: 37,299,659 (GRCm39)	S124G	probably benign	Het
Rdh5	A	G	10: 128,754,184 (GRCm39)	I83T	possibly damaging	Het
Rigi	A	G	4: 40,213,804 (GRCm39)	V618A	probably benign	Het
Ryr2	T	G	13: 11,825,794 (GRCm39)	R561S	probably damaging	Het
Scara3	A	G	14: 66,158,229 (GRCm39)	L593P	probably damaging	Het
Sema4f	C	A	6: 82,894,864 (GRCm39)	V444L	possibly damaging	Het
Slco1a7	T	A	6: 141,719,504 (GRCm39)	M1L	probably damaging	Het
Spata33	T	C	8: 123,941,134 (GRCm39)	L61P	unknown	Het
Stard10	A	T	7: 100,992,343 (GRCm39)		probably null	Het
Stub1	T	C	17: 26,051,038 (GRCm39)	I115V	probably benign	Het
Tlcd3b	T	C	7: 126,426,667 (GRCm39)	F80S	probably damaging	Het
Tmem247	C	T	17: 87,225,710 (GRCm39)	T50I	probably benign	Het
Tnrc6b	A	G	15: 80,771,223 (GRCm39)	M1103V	possibly damaging	Het
Trim61	T	C	8: 65,466,526 (GRCm39)	Y245C	probably benign	Het
Trip13	T	C	13: 74,068,130 (GRCm39)	I284V	probably benign	Het
Trpm4	T	C	7: 44,976,692 (GRCm39)		probably null	Het
Ttn	C	A	2: 76,740,092 (GRCm39)	L3528F	unknown	Het
Ttn	A	G	2: 76,560,918 (GRCm39)	L29161S	probably damaging	Het
Ube2v2	G	A	16: 15,398,948 (GRCm39)	T47I	probably benign	Het
Vwa5b1	C	T	4: 138,302,733 (GRCm39)	A921T	possibly damaging	Het
Xylt1	T	A	7: 117,236,829 (GRCm39)	F526Y	probably 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
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'- GCCGTATAGTTCTCGTTGCC -3'
(R):5'- CTGGCCAAAGTGAAGTGGTC -3'

Sequencing Primer
(F):5'- GTTGCCCATCCACTCACAGAG -3'
(R):5'- AAGTGGTCCGTGGTCTACC -3'

Posted On

2019-06-26