Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02702:Fndc4'

304154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fndc4

Ensembl Gene

ENSMUSG00000038552

Gene Name

fibronectin type III domain containing 4

Synonyms

6330410H20Rik, FRCP1, 2810430J06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02702

Quality Score

Status

Chromosome

Chromosomal Location

31449586-31453279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31451079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 204 (K204R)

Ref Sequence

ENSEMBL: ENSMUSP00000144195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041266] [ENSMUST00000041565] [ENSMUST00000072228] [ENSMUST00000172435] [ENSMUST00000201166] [ENSMUST00000202615] [ENSMUST00000201417] [ENSMUST00000201809] [ENSMUST00000201675] [ENSMUST00000202158]

AlphaFold

Q3TR08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041266
AA Change: K204R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552
AA Change: K204R

Domain	Start	End	E-Value	Type
FN3	43	123	4.35e-11	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000072228

SMART Domains

Protein: ENSMUSP00000072084
Gene: ENSMUSG00000059434

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	584	N/A	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172435
AA Change: K204R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552
AA Change: K204R

Domain	Start	End	E-Value	Type
FN3	43	123	4.35e-11	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200845

Predicted Effect

probably benign
Transcript: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	620	N/A	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201274

Predicted Effect

probably damaging
Transcript: ENSMUST00000202615
AA Change: K204R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552
AA Change: K204R

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
FN3	43	123	2.2e-13	SMART
transmembrane domain	161	183	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202312

Predicted Effect

probably benign
Transcript: ENSMUST00000201417

SMART Domains

Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
FN3	43	118	9.4e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201809

SMART Domains

Protein: ENSMUSP00000144425
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	3.8e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201675

SMART Domains

Protein: ENSMUSP00000144568
Gene: ENSMUSG00000059434

Domain	Start	End	E-Value	Type
PDB:4LC9\|A	1	120	7e-64	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000202158

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous knockout mice suffer from increased severity of DSS-induced colitis with increased weight loss and decreased colon length. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	C	T	6: 88,815,120 (GRCm39)	V337I	probably benign	Het
Adam11	G	A	11: 102,667,864 (GRCm39)	V750I	probably benign	Het
Alms1	T	C	6: 85,576,831 (GRCm39)	V129A	probably benign	Het
Cacna1d	T	A	14: 29,845,490 (GRCm39)	K560*	probably null	Het
Cntn1	A	G	15: 92,189,482 (GRCm39)		probably benign	Het
Cpne2	T	C	8: 95,296,651 (GRCm39)	V530A	probably benign	Het
Fbxo21	T	C	5: 118,138,575 (GRCm39)	L507P	probably damaging	Het
Gnrhr	G	T	5: 86,330,128 (GRCm39)	N297K	possibly damaging	Het
Grin2b	A	G	6: 135,716,130 (GRCm39)	F729S	probably damaging	Het
Hdac3	C	A	18: 38,074,147 (GRCm39)	R359L	probably benign	Het
Met	T	C	6: 17,534,142 (GRCm39)	S662P	possibly damaging	Het
Mphosph9	T	A	5: 124,398,052 (GRCm39)	E1081D	probably damaging	Het
Mycbp2	T	G	14: 103,457,560 (GRCm39)	T1546P	probably benign	Het
Nlrp9a	T	A	7: 26,264,381 (GRCm39)	M767K	possibly damaging	Het
Olfm5	A	G	7: 103,803,564 (GRCm39)	Y300H	probably damaging	Het
Or8b47	T	A	9: 38,435,856 (GRCm39)	V276D	probably damaging	Het
Pcf11	A	T	7: 92,310,826 (GRCm39)	N178K	possibly damaging	Het
Polr3a	T	C	14: 24,520,945 (GRCm39)	I571M	probably benign	Het
Ppef2	T	A	5: 92,379,678 (GRCm39)	R557W	probably benign	Het
Prelid3a	T	A	18: 67,606,864 (GRCm39)	D85E	probably damaging	Het
Rb1cc1	A	G	1: 6,310,247 (GRCm39)	E215G	probably damaging	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Recql4	C	T	15: 76,591,485 (GRCm39)	G501R	probably damaging	Het
Sema3e	T	C	5: 14,283,740 (GRCm39)		probably benign	Het
Shisa6	A	C	11: 66,110,788 (GRCm39)	L318V	probably damaging	Het
Slu7	T	C	11: 43,329,719 (GRCm39)		probably benign	Het
Spink12	T	C	18: 44,237,836 (GRCm39)	V38A	probably benign	Het
Syne2	A	G	12: 76,144,698 (GRCm39)	D1549G	probably damaging	Het
Tet1	A	G	10: 62,715,531 (GRCm39)	V88A	possibly damaging	Het
Tmem200a	C	T	10: 25,869,501 (GRCm39)	G256D	probably damaging	Het
Ttn	G	T	2: 76,714,835 (GRCm39)		probably benign	Het
Ugt2b34	T	C	5: 87,040,750 (GRCm39)	I391V	probably benign	Het
Zfp292	A	T	4: 34,809,415 (GRCm39)	L1215I	probably benign	Het
Zfp410	C	A	12: 84,372,550 (GRCm39)	N125K	probably damaging	Het

Other mutations in Fndc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Fndc4	APN	5	31,450,840 (GRCm39)	unclassified	probably benign
IGL01963:Fndc4	APN	5	31,452,556 (GRCm39)	critical splice donor site	probably null
IGL02507:Fndc4	APN	5	31,452,090 (GRCm39)	missense	probably damaging	1.00
IGL02748:Fndc4	APN	5	31,452,130 (GRCm39)	missense	possibly damaging	0.95
R1489:Fndc4	UTSW	5	31,450,795 (GRCm39)	makesense	probably null
R4085:Fndc4	UTSW	5	31,451,121 (GRCm39)	missense	probably damaging	0.99
R5418:Fndc4	UTSW	5	31,451,978 (GRCm39)	missense	probably benign	0.25
R7055:Fndc4	UTSW	5	31,451,522 (GRCm39)	missense	probably benign	0.02

Posted On

2015-04-16