Mutagenetix > Incidental Mutation

Incidental Mutation 'R5417:Srfbp1'

427815

Institutional Source

Beutler Lab

Gene Symbol

Srfbp1

Ensembl Gene

ENSMUSG00000024528

Gene Name

serum response factor binding protein 1

Synonyms

2810036K01Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R5417 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52598765-52625003 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 52621697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 253 (C253R)

Ref Sequence

ENSEMBL: ENSMUSP00000025406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025406]

AlphaFold

Q9CZ91

Predicted Effect

probably benign
Transcript: ENSMUST00000025406
AA Change: C253R

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

SMART Domains

Protein: ENSMUSP00000025406
Gene: ENSMUSG00000024528
AA Change: C253R

Domain	Start	End	E-Value	Type
low complexity region	30	43	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	180	192	N/A	INTRINSIC
low complexity region	261	271	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
Pfam:BUD22	338	440	1.1e-14	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	A	G	15: 76,619,301 (GRCm39)	V761A	possibly damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cfap65	T	C	1: 74,964,259 (GRCm39)	E563G	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Col17a1	C	A	19: 47,650,829 (GRCm39)	G732C	probably damaging	Het
Cped1	A	G	6: 22,233,579 (GRCm39)	I812V	probably null	Het
Dennd1c	CCGCCCCTCGCTGACAGC	CC	17: 57,373,755 (GRCm39)		probably null	Het
Dgkg	A	T	16: 22,407,081 (GRCm39)	M168K	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dolpp1	T	C	2: 30,286,249 (GRCm39)	L18P	probably damaging	Het
Eif3e	A	T	15: 43,128,917 (GRCm39)	D234E	probably benign	Het
Epha6	C	A	16: 60,245,198 (GRCm39)	A334S	possibly damaging	Het
Fbxw10	G	A	11: 62,767,990 (GRCm39)	R942Q	possibly damaging	Het
Flvcr2	T	G	12: 85,793,965 (GRCm39)	F114V	probably damaging	Het
Gm14443	A	T	2: 175,011,796 (GRCm39)	C217S	probably damaging	Het
Gphb5	A	T	12: 75,459,746 (GRCm39)	V83E	possibly damaging	Het
Gpsm1	T	C	2: 26,214,045 (GRCm39)		probably null	Het
Grik4	A	G	9: 42,582,544 (GRCm39)	F134S	probably benign	Het
Ibsp	G	A	5: 104,458,335 (GRCm39)	E291K	possibly damaging	Het
Igfals	T	G	17: 25,099,290 (GRCm39)	L127R	probably damaging	Het
Igsf9b	CGGCCCCGGCCCAG	CGGCCCCGGCCCAGGCCCCGGCCCAG	9: 27,245,572 (GRCm39)		probably benign	Het
Iqcf3	T	A	9: 106,431,413 (GRCm39)	D63V	probably damaging	Het
Klc4	A	G	17: 46,942,957 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk8ip2	C	A	15: 89,341,642 (GRCm39)	D284E	probably benign	Het
Muc5b	A	T	7: 141,411,781 (GRCm39)	T1576S	unknown	Het
Nlrp3	G	A	11: 59,439,889 (GRCm39)	G489S	probably damaging	Het
Nr5a1	T	A	2: 38,598,098 (GRCm39)	Q233L	possibly damaging	Het
Nusap1	G	A	2: 119,477,624 (GRCm39)	V345I	probably damaging	Het
Or10q1	A	G	19: 13,727,217 (GRCm39)	H249R	probably benign	Het
Or4k51	A	G	2: 111,585,265 (GRCm39)	T224A	possibly damaging	Het
Or51aa2	A	T	7: 103,187,970 (GRCm39)	V157E	possibly damaging	Het
Oxr1	A	G	15: 41,683,767 (GRCm39)	T378A	probably benign	Het
Pcdhb12	T	C	18: 37,569,087 (GRCm39)	F78L	probably benign	Het
Pgm2l1	A	T	7: 99,921,583 (GRCm39)	I605L	probably benign	Het
Pik3c2g	A	G	6: 139,682,669 (GRCm39)	I17V	probably benign	Het
Prss39	A	G	1: 34,539,209 (GRCm39)	S150G	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scg3	T	A	9: 75,576,538 (GRCm39)	Y279F	probably benign	Het
Skic2	C	T	17: 35,065,574 (GRCm39)	V327I	probably damaging	Het
Tcirg1	C	T	19: 3,953,509 (GRCm39)		probably null	Het
Trim37	A	G	11: 87,057,505 (GRCm39)	Y313C	probably damaging	Het
Ttll9	A	T	2: 152,844,912 (GRCm39)	M427L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tubgcp5	A	G	7: 55,475,409 (GRCm39)	R932G	possibly damaging	Het

Other mutations in Srfbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02686:Srfbp1	APN	18	52,608,726 (GRCm39)	missense	probably damaging	1.00
R0308:Srfbp1	UTSW	18	52,621,614 (GRCm39)	missense	probably benign	0.01
R0765:Srfbp1	UTSW	18	52,623,507 (GRCm39)	splice site	probably benign
R0811:Srfbp1	UTSW	18	52,620,588 (GRCm39)	missense	probably damaging	0.98
R0812:Srfbp1	UTSW	18	52,620,588 (GRCm39)	missense	probably damaging	0.98
R1625:Srfbp1	UTSW	18	52,621,788 (GRCm39)	missense	probably benign	0.06
R1659:Srfbp1	UTSW	18	52,621,967 (GRCm39)	missense	possibly damaging	0.68
R4438:Srfbp1	UTSW	18	52,621,403 (GRCm39)	missense	probably benign	0.03
R4761:Srfbp1	UTSW	18	52,621,638 (GRCm39)	missense	probably damaging	1.00
R4843:Srfbp1	UTSW	18	52,621,749 (GRCm39)	missense	probably benign	0.41
R5613:Srfbp1	UTSW	18	52,616,717 (GRCm39)	missense	probably damaging	1.00
R5708:Srfbp1	UTSW	18	52,622,018 (GRCm39)	missense	probably damaging	1.00
R5900:Srfbp1	UTSW	18	52,621,853 (GRCm39)	missense	probably benign	0.31
R6349:Srfbp1	UTSW	18	52,622,034 (GRCm39)	missense	probably benign	0.38
R6711:Srfbp1	UTSW	18	52,621,373 (GRCm39)	missense	probably damaging	1.00
R7660:Srfbp1	UTSW	18	52,608,671 (GRCm39)	missense	probably damaging	1.00
R7707:Srfbp1	UTSW	18	52,616,726 (GRCm39)	missense	probably damaging	1.00
R8140:Srfbp1	UTSW	18	52,621,762 (GRCm39)	missense	probably damaging	1.00
R8548:Srfbp1	UTSW	18	52,621,463 (GRCm39)	missense	probably benign	0.00
R8912:Srfbp1	UTSW	18	52,623,686 (GRCm39)	missense	possibly damaging	0.94
R8930:Srfbp1	UTSW	18	52,623,117 (GRCm39)	missense	possibly damaging	0.75
R8932:Srfbp1	UTSW	18	52,623,117 (GRCm39)	missense	possibly damaging	0.75
R8992:Srfbp1	UTSW	18	52,609,392 (GRCm39)	nonsense	probably null
R9116:Srfbp1	UTSW	18	52,623,102 (GRCm39)	missense	possibly damaging	0.85
R9365:Srfbp1	UTSW	18	52,623,540 (GRCm39)	missense	possibly damaging	0.62
R9479:Srfbp1	UTSW	18	52,621,332 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- CTGTTGTCAGGGAGCAGAAG -3'
(R):5'- GAGGAATGGACACCAGATTCC -3'

Sequencing Primer
(F):5'- CAAAGAATGCAGCAAGTGGTTC -3'
(R):5'- GGAATGGACACCAGATTCCTTCTTTC -3'

Posted On

2016-09-01