Mutagenetix > Incidental Mutation

Incidental Mutation 'R7400:Fscb'

574118

Institutional Source

Beutler Lab

Gene Symbol

Fscb

Ensembl Gene

ENSMUSG00000043060

Gene Name

fibrous sheath CABYR binding protein

Synonyms

EG623046

MMRRC Submission

045482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7400 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64471330-64474690 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 64471617 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1025 (S1025I)

Ref Sequence

ENSEMBL: ENSMUSP00000051554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059833]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000059833
AA Change: S1025I

SMART Domains

Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: S1025I

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
low complexity region	273	290	N/A	INTRINSIC
internal_repeat_1	295	465	2.4e-7	PROSPERO
low complexity region	483	501	N/A	INTRINSIC
low complexity region	510	547	N/A	INTRINSIC
low complexity region	558	595	N/A	INTRINSIC
low complexity region	599	622	N/A	INTRINSIC
low complexity region	641	661	N/A	INTRINSIC
low complexity region	673	708	N/A	INTRINSIC
low complexity region	721	730	N/A	INTRINSIC
internal_repeat_1	736	895	2.4e-7	PROSPERO
internal_repeat_2	751	871	6.17e-6	PROSPERO
low complexity region	899	916	N/A	INTRINSIC
internal_repeat_2	919	1046	6.17e-6	PROSPERO

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (69/71)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	A	9: 103,250,662 (GRCm38)	E690V	probably benign	Het
4932414N04Rik	T	C	2: 68,666,203 (GRCm38)	S118P	unknown	Het
Ahnak	T	A	19: 9,014,613 (GRCm38)	D4420E	probably damaging	Het
Atp5g2	C	T	15: 102,665,112 (GRCm38)	A90T	possibly damaging	Het
Batf2	A	G	19: 6,171,508 (GRCm38)	Y116C	probably damaging	Het
Cd48	G	A	1: 171,695,925 (GRCm38)	R112H	probably benign	Het
Cdh8	A	T	8: 99,279,560 (GRCm38)	Y132N	probably damaging	Het
Cfap70	A	C	14: 20,408,267 (GRCm38)	S793A	probably benign	Het
Cmip	A	G	8: 117,257,405 (GRCm38)		probably null	Het
Cyp1a2	T	C	9: 57,681,940 (GRCm38)	N197S	probably benign	Het
Diaph1	T	C	18: 37,854,502 (GRCm38)	D1067G	probably damaging	Het
Disp2	T	C	2: 118,791,886 (GRCm38)	L1033P	probably damaging	Het
Dock6	G	T	9: 21,801,807 (GRCm38)	A1981D	possibly damaging	Het
Eci3	T	C	13: 34,959,977 (GRCm38)	D55G	probably benign	Het
Eea1	T	A	10: 95,995,570 (GRCm38)	D174E	probably benign	Het
Ehd2	T	C	7: 15,950,656 (GRCm38)	E406G	possibly damaging	Het
Erich3	A	G	3: 154,762,577 (GRCm38)	K889E		Het
Fat4	C	A	3: 38,887,924 (GRCm38)	T322K	probably damaging	Het
Fitm1	A	T	14: 55,576,769 (GRCm38)	I241F	possibly damaging	Het
Gm4070	T	A	7: 105,902,040 (GRCm38)	I602F	probably benign	Het
Gpsm2	T	A	3: 108,679,688 (GRCm38)	D644V	probably damaging	Het
Gucy2d	C	A	7: 98,443,640 (GRCm38)	L75M	possibly damaging	Het
Hmcn1	T	C	1: 150,674,430 (GRCm38)	I2668V	probably damaging	Het
Hoxa7	A	G	6: 52,217,053 (GRCm38)	I118T	possibly damaging	Het
Hsp90ab1	A	G	17: 45,569,284 (GRCm38)	V473A	probably benign	Het
Ica1l	T	C	1: 60,042,642 (GRCm38)		probably null	Het
Ighv1-72	A	G	12: 115,758,217 (GRCm38)	S40P	probably damaging	Het
Kif28	A	C	1: 179,700,274 (GRCm38)	W771G	probably damaging	Het
Klf13	G	C	7: 63,938,248 (GRCm38)	A100G	probably benign	Het
Klhl5	A	G	5: 65,148,590 (GRCm38)	E300G	possibly damaging	Het
Krt40	A	G	11: 99,543,143 (GRCm38)	S6P	probably benign	Het
Map3k13	C	T	16: 21,922,322 (GRCm38)	R800W	probably damaging	Het
Mef2d	T	C	3: 88,167,731 (GRCm38)	L408P	possibly damaging	Het
Mmp10	T	A	9: 7,503,300 (GRCm38)	M87K	probably damaging	Het
Mrgprd	T	A	7: 145,321,906 (GRCm38)	H171Q	probably benign	Het
Muc1	C	T	3: 89,230,646 (GRCm38)	T265I	possibly damaging	Het
Myo15b	A	G	11: 115,860,113 (GRCm38)	N570D		Het
Nfs1	T	A	2: 156,126,323 (GRCm38)	I408F	probably damaging	Het
Npdc1	G	T	2: 25,406,245 (GRCm38)	C48F	probably damaging	Het
Olfr137	A	T	17: 38,305,331 (GRCm38)	N43K	possibly damaging	Het
Olfr459	A	T	6: 41,771,744 (GRCm38)	L185H	probably damaging	Het
Olfr592	T	C	7: 103,187,380 (GRCm38)	S260P	probably damaging	Het
Olfr676	T	C	7: 105,035,210 (GRCm38)	I4T	probably benign	Het
Osbpl2	T	C	2: 180,153,321 (GRCm38)	M332T	probably benign	Het
Ostm1	T	A	10: 42,698,217 (GRCm38)	V302D	probably damaging	Het
Otof	T	C	5: 30,385,188 (GRCm38)	D672G	probably benign	Het
Plekha6	A	T	1: 133,274,024 (GRCm38)	K392*	probably null	Het
Pnpla1	A	T	17: 28,858,976 (GRCm38)	D37V	probably damaging	Het
Rasgrp1	A	G	2: 117,298,545 (GRCm38)	S198P	probably damaging	Het
Reln	A	T	5: 21,971,934 (GRCm38)	N1911K	probably damaging	Het
Ripply3	C	A	16: 94,335,900 (GRCm38)	A140E	probably benign	Het
Siglec1	A	G	2: 131,086,095 (GRCm38)	C8R	possibly damaging	Het
Slamf6	T	C	1: 171,919,793 (GRCm38)	S41P	unknown	Het
Slc15a5	A	G	6: 138,073,057 (GRCm38)	M120T	probably benign	Het
Slc25a20	T	G	9: 108,681,973 (GRCm38)	D179E	possibly damaging	Het
Sltm	T	A	9: 70,586,070 (GRCm38)	V783E	probably damaging	Het
Smc1b	C	A	15: 85,069,720 (GRCm38)	R1116L	probably damaging	Het
Smim23	A	G	11: 32,824,471 (GRCm38)	V16A	probably benign	Het
Spata20	A	G	11: 94,483,400 (GRCm38)	V348A	probably benign	Het
Spen	T	C	4: 141,473,741 (GRCm38)	D2525G	probably damaging	Het
St14	A	C	9: 31,108,275 (GRCm38)	N83K	probably benign	Het
Stab1	T	C	14: 31,157,384 (GRCm38)	N713S	probably null	Het
Syne1	A	T	10: 5,218,580 (GRCm38)	L5267H	probably benign	Het
Tenm4	T	C	7: 96,694,803 (GRCm38)	L271P	probably damaging	Het
Tfap2d	C	T	1: 19,142,926 (GRCm38)	H325Y	possibly damaging	Het
Trav23	A	G	14: 53,977,563 (GRCm38)	R78G	probably benign	Het
Ttc39c	A	T	18: 12,643,799 (GRCm38)		probably benign	Het
Unc79	A	G	12: 103,104,630 (GRCm38)	D1228G	probably damaging	Het
Vmn1r66	T	A	7: 10,274,947 (GRCm38)	H53L	probably damaging	Het
Vps13b	A	T	15: 35,378,900 (GRCm38)	L53F	probably damaging	Het
Zfp532	C	T	18: 65,638,913 (GRCm38)	T834M	possibly damaging	Het

Other mutations in Fscb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01095:Fscb	APN	12	64,473,381 (GRCm38)	missense	possibly damaging	0.46
IGL01099:Fscb	APN	12	64,472,101 (GRCm38)	missense	unknown
IGL01394:Fscb	APN	12	64,473,804 (GRCm38)	missense	possibly damaging	0.83
IGL02570:Fscb	APN	12	64,472,178 (GRCm38)	missense	unknown
IGL02974:Fscb	APN	12	64,471,525 (GRCm38)	missense	unknown
IGL03150:Fscb	APN	12	64,472,430 (GRCm38)	missense	unknown
IGL03407:Fscb	APN	12	64,473,495 (GRCm38)	missense	probably damaging	0.96
BB007:Fscb	UTSW	12	64,472,563 (GRCm38)	missense	unknown
BB017:Fscb	UTSW	12	64,472,563 (GRCm38)	missense	unknown
FR4548:Fscb	UTSW	12	64,472,565 (GRCm38)	missense	unknown
FR4548:Fscb	UTSW	12	64,472,563 (GRCm38)	missense	unknown
R0056:Fscb	UTSW	12	64,474,247 (GRCm38)	missense	possibly damaging	0.66
R0490:Fscb	UTSW	12	64,472,887 (GRCm38)	missense	unknown
R0492:Fscb	UTSW	12	64,473,518 (GRCm38)	missense	possibly damaging	0.46
R0702:Fscb	UTSW	12	64,472,001 (GRCm38)	missense	unknown
R1017:Fscb	UTSW	12	64,473,468 (GRCm38)	missense	probably benign	0.07
R1672:Fscb	UTSW	12	64,471,518 (GRCm38)	missense	unknown
R1737:Fscb	UTSW	12	64,474,581 (GRCm38)	missense	possibly damaging	0.83
R1795:Fscb	UTSW	12	64,474,401 (GRCm38)	missense	probably damaging	0.99
R1969:Fscb	UTSW	12	64,473,234 (GRCm38)	missense	unknown
R1984:Fscb	UTSW	12	64,474,683 (GRCm38)	missense	unknown
R2164:Fscb	UTSW	12	64,473,793 (GRCm38)	missense	probably damaging	0.96
R2213:Fscb	UTSW	12	64,474,116 (GRCm38)	missense	possibly damaging	0.84
R2874:Fscb	UTSW	12	64,473,436 (GRCm38)	missense	probably benign	0.00
R2878:Fscb	UTSW	12	64,472,574 (GRCm38)	missense	unknown
R3873:Fscb	UTSW	12	64,473,132 (GRCm38)	missense	unknown
R4734:Fscb	UTSW	12	64,474,470 (GRCm38)	missense	possibly damaging	0.82
R4773:Fscb	UTSW	12	64,473,690 (GRCm38)	missense	probably damaging	1.00
R4940:Fscb	UTSW	12	64,473,814 (GRCm38)	missense	probably benign	0.03
R4981:Fscb	UTSW	12	64,473,619 (GRCm38)	missense	possibly damaging	0.46
R5105:Fscb	UTSW	12	64,473,336 (GRCm38)	missense	possibly damaging	0.82
R5845:Fscb	UTSW	12	64,472,784 (GRCm38)	missense	unknown
R6049:Fscb	UTSW	12	64,474,320 (GRCm38)	missense	possibly damaging	0.66
R6743:Fscb	UTSW	12	64,471,573 (GRCm38)	missense	unknown
R7026:Fscb	UTSW	12	64,471,617 (GRCm38)	missense	unknown
R7285:Fscb	UTSW	12	64,471,549 (GRCm38)	missense	unknown
R7372:Fscb	UTSW	12	64,471,824 (GRCm38)	missense	unknown
R7563:Fscb	UTSW	12	64,473,285 (GRCm38)	missense	possibly damaging	0.82
R7748:Fscb	UTSW	12	64,474,407 (GRCm38)	missense	probably benign	0.04
R7759:Fscb	UTSW	12	64,474,092 (GRCm38)	missense	probably benign	0.03
R7930:Fscb	UTSW	12	64,472,563 (GRCm38)	missense	unknown
R8026:Fscb	UTSW	12	64,474,275 (GRCm38)	missense	probably benign	0.12
R8070:Fscb	UTSW	12	64,474,608 (GRCm38)	missense	probably benign	0.04
R8081:Fscb	UTSW	12	64,472,028 (GRCm38)	missense	unknown
R8331:Fscb	UTSW	12	64,473,468 (GRCm38)	missense	probably benign	0.07
R8405:Fscb	UTSW	12	64,473,504 (GRCm38)	missense	possibly damaging	0.82
R8788:Fscb	UTSW	12	64,471,621 (GRCm38)	missense	unknown
R8833:Fscb	UTSW	12	64,473,223 (GRCm38)	missense	unknown
R8997:Fscb	UTSW	12	64,473,984 (GRCm38)	missense	possibly damaging	0.46
R9192:Fscb	UTSW	12	64,474,116 (GRCm38)	missense	possibly damaging	0.49
R9282:Fscb	UTSW	12	64,473,323 (GRCm38)	missense	possibly damaging	0.46
R9437:Fscb	UTSW	12	64,472,934 (GRCm38)	missense	unknown
R9581:Fscb	UTSW	12	64,474,348 (GRCm38)	missense	probably benign	0.16
RF011:Fscb	UTSW	12	64,472,994 (GRCm38)	small deletion	probably benign
RF019:Fscb	UTSW	12	64,472,596 (GRCm38)	small insertion	probably benign
RF038:Fscb	UTSW	12	64,472,569 (GRCm38)	small insertion	probably benign
Z1176:Fscb	UTSW	12	64,472,930 (GRCm38)	missense	unknown
Z1177:Fscb	UTSW	12	64,472,628 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAAGAGTTCTTCCAGATAGCATCTC -3'
(R):5'- AGAAGAGTCTCCTGGTGTTGATC -3'

Sequencing Primer
(F):5'- AGCATCTCATTTTCTAAAGAATGACC -3'
(R):5'- CCTGGTGTTGATCTGCCTTTAAAAAC -3'

Posted On

2019-09-13