Mutagenetix > Incidental Mutation

Incidental Mutation 'R4184:Fsbp'

319855

Institutional Source

Beutler Lab

Gene Symbol

Fsbp

Ensembl Gene

ENSMUSG00000094595

Gene Name

fibrinogen silencer binding protein

Synonyms

MMRRC Submission

041020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R4184 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11579665-11587591 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11584058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 252 (N252K)

Ref Sequence

ENSEMBL: ENSMUSP00000137082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070755] [ENSMUST00000095145] [ENSMUST00000180239]

AlphaFold

Q8BKE5

Predicted Effect

probably benign
Transcript: ENSMUST00000070755

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773

Domain	Start	End	E-Value	Type
low complexity region	113	121	N/A	INTRINSIC
low complexity region	164	178	N/A	INTRINSIC
DEXDc	270	470	4.36e-36	SMART
HELICc	652	736	6.14e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095145

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179731

Predicted Effect

probably benign
Transcript: ENSMUST00000180239
AA Change: N252K

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

SMART Domains

Protein: ENSMUSP00000137082
Gene: ENSMUSG00000094595
AA Change: N252K

Domain	Start	End	E-Value	Type
Pfam:Myb_DNA-bind_5	6	85	2.2e-24	PFAM
coiled coil region	256	293	N/A	INTRINSIC

Meta Mutation Damage Score

0.0582

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	T	7: 143,447,858 (GRCm39)	K234*	probably null	Het
Ccdc178	A	G	18: 22,157,841 (GRCm39)	L539P	probably damaging	Het
Cd5	T	A	19: 10,698,638 (GRCm39)	N423I	probably damaging	Het
Ceacam20	C	T	7: 19,710,041 (GRCm39)	T355I	probably damaging	Het
Chil4	G	A	3: 106,111,043 (GRCm39)	P284S	possibly damaging	Het
Cln8	T	C	8: 14,945,030 (GRCm39)	F115L	probably benign	Het
Cpne9	T	A	6: 113,259,418 (GRCm39)		probably benign	Het
Cyp4a32	C	T	4: 115,478,720 (GRCm39)	T484I	possibly damaging	Het
Des	C	G	1: 75,339,228 (GRCm39)	A251G	probably benign	Het
Dnah3	T	C	7: 119,682,516 (GRCm39)	D270G	probably damaging	Het
Epc1	T	C	18: 6,453,578 (GRCm39)	E249G	possibly damaging	Het
Gramd1a	C	A	7: 30,831,940 (GRCm39)		probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Igsf10	C	T	3: 59,227,152 (GRCm39)	V2174M	probably damaging	Het
Kcnu1	T	C	8: 26,352,445 (GRCm39)	L204P	probably damaging	Het
Kdm7a	T	C	6: 39,125,911 (GRCm39)	E628G	probably benign	Het
Klhl36	T	C	8: 120,601,124 (GRCm39)	M381T	probably damaging	Het
Kpna3	A	T	14: 61,605,624 (GRCm39)	Y474N	probably damaging	Het
Lsm8	G	T	6: 18,849,604 (GRCm39)		probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mbd2	T	A	18: 70,751,050 (GRCm39)	C362S	probably damaging	Het
Mex3b	A	G	7: 82,519,238 (GRCm39)	R518G	probably benign	Het
Mical1	T	C	10: 41,357,866 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,748,613 (GRCm39)	S1996P	probably damaging	Het
Or11g7	A	G	14: 50,690,827 (GRCm39)	Y106C	probably damaging	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Otop2	T	A	11: 115,220,671 (GRCm39)	C504S	probably benign	Het
Pkhd1	T	A	1: 20,279,501 (GRCm39)	H2939L	probably benign	Het
Pkhd1	C	T	1: 20,633,910 (GRCm39)	V542M	probably benign	Het
Pkhd1l1	C	T	15: 44,455,302 (GRCm39)	T4021I	probably benign	Het
Prr36	T	C	8: 4,263,409 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,813,650 (GRCm39)	Y517F	probably damaging	Het
Pth1r	A	G	9: 110,571,300 (GRCm39)	M1T	probably null	Het
Rdx	C	A	9: 51,978,680 (GRCm39)	L163M	probably damaging	Het
Reep6	A	G	10: 80,169,648 (GRCm39)	Y112C	probably damaging	Het
Rpp21	A	G	17: 36,568,611 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,451,393 (GRCm39)	C4480S	probably damaging	Het
Slc15a1	G	A	14: 121,703,574 (GRCm39)	T512I	probably benign	Het
Slc22a22	A	T	15: 57,119,962 (GRCm39)	C170*	probably null	Het
Slc26a2	C	T	18: 61,331,904 (GRCm39)	R509K	probably benign	Het
Slc4a10	A	G	2: 62,147,786 (GRCm39)		probably benign	Het
Stc1	A	T	14: 69,266,834 (GRCm39)		probably benign	Het
Tbc1d32	T	A	10: 56,100,676 (GRCm39)	T101S	probably benign	Het
Tsc2	T	C	17: 24,850,990 (GRCm39)	T23A	probably benign	Het
Vmn1r52	T	G	6: 90,156,219 (GRCm39)	F174L	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	probably benign	Het
Zfpl1	A	G	19: 6,131,170 (GRCm39)	L274P	probably damaging	Het

Other mutations in Fsbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02604:Fsbp	APN	4	11,584,147 (GRCm39)	missense	probably damaging	1.00
R1233:Fsbp	UTSW	4	11,580,053 (GRCm39)	missense	possibly damaging	0.95
R1326:Fsbp	UTSW	4	11,579,891 (GRCm39)	missense	probably damaging	1.00
R1642:Fsbp	UTSW	4	11,583,965 (GRCm39)	missense	probably benign	0.00
R1693:Fsbp	UTSW	4	11,583,745 (GRCm39)	missense	probably benign	0.00
R1754:Fsbp	UTSW	4	11,583,906 (GRCm39)	missense	probably damaging	0.99
R2011:Fsbp	UTSW	4	11,584,006 (GRCm39)	missense	probably benign	0.03
R3767:Fsbp	UTSW	4	11,583,706 (GRCm39)	missense	probably damaging	0.99
R4672:Fsbp	UTSW	4	11,579,841 (GRCm39)	missense	probably benign	0.10
R4673:Fsbp	UTSW	4	11,579,841 (GRCm39)	missense	probably benign	0.10
R4780:Fsbp	UTSW	4	11,583,709 (GRCm39)	missense	possibly damaging	0.69
R7748:Fsbp	UTSW	4	11,579,924 (GRCm39)	missense	probably damaging	1.00
R9190:Fsbp	UTSW	4	11,584,005 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTTTCAAATCCTCAACTCAGTG -3'
(R):5'- ATTATCACGACCCCAGGCTG -3'

Sequencing Primer
(F):5'- CCTCAACTCAGTGATACTTTAGAGC -3'
(R):5'- GCTGGAACCATCTCAGAGACTACTG -3'

Posted On

2015-06-10