Mutagenetix > Incidental Mutation

Incidental Mutation 'R3903:Fsip2l'

309285

Institutional Source

Beutler Lab

Gene Symbol

Fsip2l

Ensembl Gene

ENSMUSG00000079606

Gene Name

fibrous sheath-interacting protein 2-like

Synonyms

LOC209005, Gm595

MMRRC Submission

040907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R3903 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

47930343-47966590 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47930421 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 649 (N649S)

Ref Sequence

ENSEMBL: ENSMUSP00000110578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114928]

AlphaFold

A2AF73

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114928
AA Change: N649S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110578
Gene: ENSMUSG00000079606
AA Change: N649S

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
low complexity region	110	120	N/A	INTRINSIC
coiled coil region	150	183	N/A	INTRINSIC
low complexity region	308	329	N/A	INTRINSIC
internal_repeat_1	335	462	1.55e-9	PROSPERO
internal_repeat_1	478	616	1.55e-9	PROSPERO

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Ap3m1	T	C	14: 21,086,732 (GRCm39)	Y185C	probably null	Het
Calcrl	T	A	2: 84,198,986 (GRCm39)		probably benign	Het
Ccdc178	C	T	18: 22,156,152 (GRCm39)	V573I	possibly damaging	Het
Cdh6	T	C	15: 13,042,661 (GRCm39)	K499R	probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Cyp4f40	C	A	17: 32,878,598 (GRCm39)	R47S	possibly damaging	Het
Eif4a2	AG	A	16: 22,929,390 (GRCm39)		probably null	Het
Gm8180	T	A	14: 44,021,092 (GRCm39)	R39W	probably null	Het
Golm1	T	C	13: 59,786,154 (GRCm39)	Q346R	probably damaging	Het
Grap	T	G	11: 61,551,151 (GRCm39)		probably null	Het
Hormad2	A	G	11: 4,377,237 (GRCm39)		probably benign	Het
Hyal1	T	C	9: 107,456,171 (GRCm39)		probably null	Het
Kif12	A	G	4: 63,086,213 (GRCm39)	V378A	possibly damaging	Het
Lrrk2	G	A	15: 91,631,904 (GRCm39)	S1276N	probably damaging	Het
Lrrk2	A	T	15: 91,631,903 (GRCm39)	S1276C	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or4f53	A	T	2: 111,088,114 (GRCm39)	Y218F	probably damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Or8c20	C	T	9: 38,260,954 (GRCm39)	Q186*	probably null	Het
Pabpc6	T	C	17: 9,888,083 (GRCm39)	E156G	probably benign	Het
Rorb	A	G	19: 18,939,463 (GRCm39)	Y155H	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Scn1a	A	G	2: 66,148,476 (GRCm39)	I3T	probably benign	Het
Serpinb9	T	C	13: 33,194,793 (GRCm39)	M183T	possibly damaging	Het
Wnk1	A	G	6: 119,926,012 (GRCm39)	S1151P	probably damaging	Het
Xirp2	C	T	2: 67,338,380 (GRCm39)	T207I	probably benign	Het
Zfp39	T	C	11: 58,781,001 (GRCm39)	Y587C	probably benign	Het

Other mutations in Fsip2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03195:Fsip2l	APN	X	47,961,825 (GRCm39)	missense	possibly damaging	0.79
R3904:Fsip2l	UTSW	X	47,930,421 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- ACAGACGGTTGGTGGCATTC -3'
(R):5'- AATAATACCCCTTTGTATCAGGCAG -3'

Sequencing Primer
(F):5'- GTGGCATTCCTTCTGTGCTCAG -3'
(R):5'- ATACCCCTTTGTATCAGGCAGTGTAG -3'

Posted On

2015-04-17