Mutagenetix > Incidental Mutation

Incidental Mutation 'R3746:Fsip1'

309791

Institutional Source

Beutler Lab

Gene Symbol

Fsip1

Ensembl Gene

ENSMUSG00000027344

Gene Name

fibrous sheath-interacting protein 1

Synonyms

4933432K11Rik, 1700012M13Rik

MMRRC Submission

040732-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R3746 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117960905-118087447 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118063531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 313 (C313R)

Ref Sequence

ENSEMBL: ENSMUSP00000155242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028821] [ENSMUST00000231133]

AlphaFold

Q9D3V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028821
AA Change: C313R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028821
Gene: ENSMUSG00000027344
AA Change: C313R

Domain	Start	End	E-Value	Type
Pfam:FSIP1	4	405	5.9e-156	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231133
AA Change: C313R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 77,036,501 (GRCm39)	E347*	probably null	Het
Abcb5	T	C	12: 118,838,355 (GRCm39)	D1069G	probably damaging	Het
Ago1	A	G	4: 126,354,837 (GRCm39)	I125T	probably benign	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Chd7	G	A	4: 8,752,537 (GRCm39)	V345M	probably damaging	Het
Cln6	A	G	9: 62,754,284 (GRCm39)	I109V	probably benign	Het
Csmd3	A	T	15: 47,713,162 (GRCm39)	F1604Y	probably benign	Het
Cx3cr1	T	C	9: 119,881,132 (GRCm39)	H90R	probably damaging	Het
Dip2c	A	T	13: 9,651,509 (GRCm39)	D674V	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Eif3g	G	A	9: 20,805,993 (GRCm39)	R295C	probably benign	Het
Epha5	T	C	5: 84,206,963 (GRCm39)	K998E	probably damaging	Het
Fam171b	A	T	2: 83,709,944 (GRCm39)	T539S	probably damaging	Het
Fer1l4	G	T	2: 155,876,968 (GRCm39)	H1159N	probably benign	Het
Gm37240	T	G	3: 84,426,919 (GRCm39)	N168T	probably benign	Het
Gm7589	T	C	9: 59,053,138 (GRCm39)		noncoding transcript	Het
Igkv20-101-2	A	T	6: 68,451,942 (GRCm39)	I66L	possibly damaging	Het
Irf3	T	C	7: 44,648,297 (GRCm39)	F54S	probably damaging	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Map3k21	A	G	8: 126,661,839 (GRCm39)	K479E	probably damaging	Het
Mpdz	A	C	4: 81,281,384 (GRCm39)	V609G	probably damaging	Het
Opcml	G	A	9: 28,812,826 (GRCm39)	V173M	possibly damaging	Het
Or51b6	T	A	7: 103,556,267 (GRCm39)	M207K	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Pcdh17	A	T	14: 84,770,477 (GRCm39)	Y985F	probably benign	Het
Piezo1	G	T	8: 123,219,377 (GRCm39)	F1084L	probably damaging	Het
Pkhd1	A	G	1: 20,128,524 (GRCm39)	*4060Q	probably null	Het
Plekhn1	T	C	4: 156,310,051 (GRCm39)	T88A	probably benign	Het
Pramel18	T	A	4: 101,767,073 (GRCm39)	D107E	possibly damaging	Het
Rmdn2	T	A	17: 79,977,981 (GRCm39)		probably null	Het
Selenom	A	G	11: 3,467,132 (GRCm39)	E137G	probably benign	Het
Slc38a7	A	G	8: 96,570,380 (GRCm39)		probably benign	Het
Slc39a12	T	C	2: 14,400,878 (GRCm39)		probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trim63	G	A	4: 134,042,665 (GRCm39)	C44Y	probably damaging	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r4	A	G	6: 56,934,116 (GRCm39)	R207G	probably damaging	Het
Vmn2r76	A	G	7: 85,874,763 (GRCm39)	V738A	probably benign	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het

Other mutations in Fsip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Fsip1	APN	2	118,080,393 (GRCm39)	missense	possibly damaging	0.63
IGL01676:Fsip1	APN	2	118,070,865 (GRCm39)	splice site	probably benign
IGL02039:Fsip1	APN	2	118,070,895 (GRCm39)	missense	probably damaging	1.00
IGL02337:Fsip1	APN	2	118,082,195 (GRCm39)	nonsense	probably null
IGL02668:Fsip1	APN	2	118,082,206 (GRCm39)	missense	probably benign	0.02
IGL03101:Fsip1	APN	2	118,072,144 (GRCm39)	missense	probably damaging	1.00
IGL03155:Fsip1	APN	2	118,082,220 (GRCm39)	missense	probably benign	0.06
R0045:Fsip1	UTSW	2	118,078,773 (GRCm39)	splice site	probably null
R0045:Fsip1	UTSW	2	118,078,773 (GRCm39)	splice site	probably null
R1225:Fsip1	UTSW	2	118,078,831 (GRCm39)	missense	probably damaging	0.98
R1824:Fsip1	UTSW	2	118,063,389 (GRCm39)	missense	probably damaging	0.98
R2048:Fsip1	UTSW	2	118,072,197 (GRCm39)	missense	probably damaging	0.97
R2229:Fsip1	UTSW	2	118,052,925 (GRCm39)	missense	probably benign	0.00
R3026:Fsip1	UTSW	2	118,080,384 (GRCm39)	missense	probably benign	0.06
R6275:Fsip1	UTSW	2	118,035,583 (GRCm39)	missense	probably benign	0.06
R6395:Fsip1	UTSW	2	118,067,406 (GRCm39)	missense	probably damaging	0.99
R6923:Fsip1	UTSW	2	118,080,394 (GRCm39)	missense	probably benign	0.01
R7868:Fsip1	UTSW	2	117,966,967 (GRCm39)	nonsense	probably null
R7942:Fsip1	UTSW	2	117,967,092 (GRCm39)	missense	probably benign	0.19
R8237:Fsip1	UTSW	2	118,063,483 (GRCm39)	missense	probably damaging	0.99
R8245:Fsip1	UTSW	2	118,075,359 (GRCm39)	missense	unknown
R8345:Fsip1	UTSW	2	118,070,952 (GRCm39)	missense	probably damaging	1.00
R8376:Fsip1	UTSW	2	118,063,519 (GRCm39)	missense	possibly damaging	0.79
R8765:Fsip1	UTSW	2	118,082,154 (GRCm39)	missense	possibly damaging	0.67
R9734:Fsip1	UTSW	2	118,070,916 (GRCm39)	missense	probably benign
Z1176:Fsip1	UTSW	2	117,966,964 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACTTGATATGCCTGGGCCAG -3'
(R):5'- AGTGACACTTGTACAGACTGGG -3'

Sequencing Primer
(F):5'- AGCTGGTACCCATGGCC -3'
(R):5'- CACTTGTACAGACTGGGAAGAG -3'

Posted On

2015-04-17