Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01963:Fndc4'

182481

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 #

IGL01963

Quality Score

Status

Chromosome

Chromosomal Location

31449586-31453279 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 31452556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144195 (fasta)

Gene Model

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

AlphaFold

Q3TR08

Predicted Effect

probably null
Transcript: ENSMUST00000041266

SMART Domains

Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552

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

probably null
Transcript: ENSMUST00000172435

SMART Domains

Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552

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

noncoding transcript
Transcript: ENSMUST00000201906

Predicted Effect

probably null
Transcript: ENSMUST00000202615

SMART Domains

Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552

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

probably null
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

noncoding transcript
Transcript: ENSMUST00000202312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Predicted Effect

probably benign
Transcript: ENSMUST00000202158

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	G	A	14: 4,350,856 (GRCm38)	G130D	probably damaging	Het
Abca8b	T	A	11: 109,862,589 (GRCm39)	D392V	probably damaging	Het
Cep43	A	T	17: 8,411,109 (GRCm39)	D354V	probably damaging	Het
Clptm1l	T	A	13: 73,765,688 (GRCm39)		probably benign	Het
Creb3l1	G	A	2: 91,823,678 (GRCm39)	T178I	probably benign	Het
Ctsd	A	G	7: 141,930,336 (GRCm39)		probably null	Het
Dcstamp	A	T	15: 39,623,755 (GRCm39)	I401F	possibly damaging	Het
Dnah5	A	G	15: 28,370,682 (GRCm39)	D2874G	probably benign	Het
Fcsk	A	G	8: 111,620,034 (GRCm39)	F281S	probably damaging	Het
Fli1	T	A	9: 32,335,503 (GRCm39)	K310*	probably null	Het
Gc	G	A	5: 89,569,981 (GRCm39)		probably benign	Het
Krtap26-1	A	G	16: 88,444,556 (GRCm39)	C22R	probably damaging	Het
Obscn	C	T	11: 58,911,367 (GRCm39)	G6422S	probably benign	Het
Or10d5	C	A	9: 39,861,536 (GRCm39)	C177F	probably damaging	Het
Or10j2	T	A	1: 173,097,919 (GRCm39)	M59K	probably damaging	Het
Or5b21	T	A	19: 12,839,746 (GRCm39)	F202L	probably benign	Het
Pgr	C	T	9: 8,922,669 (GRCm39)	P613L	probably damaging	Het
Pnpla8	C	A	12: 44,342,816 (GRCm39)	A524E	possibly damaging	Het
Psma2	A	T	13: 14,793,948 (GRCm39)	I105F	probably damaging	Het
Ptprg	A	G	14: 12,220,661 (GRCm38)	R458G	probably damaging	Het
Rbm44	A	G	1: 91,090,830 (GRCm39)	I755V	probably benign	Het
Rev3l	A	G	10: 39,698,733 (GRCm39)	K1077E	possibly damaging	Het
Rps20	A	C	4: 3,834,494 (GRCm39)		probably benign	Het
Sel1l3	A	C	5: 53,357,680 (GRCm39)	V104G	probably damaging	Het
Sirpb1c	T	C	3: 15,892,937 (GRCm39)	N89S	probably benign	Het
Slc25a16	G	A	10: 62,766,220 (GRCm39)		probably null	Het
Sulf1	C	T	1: 12,888,731 (GRCm39)	R339C	probably damaging	Het
Tedc2	C	T	17: 24,436,926 (GRCm39)	A270T	probably benign	Het
Trem3	T	C	17: 48,554,880 (GRCm39)	S2P	possibly damaging	Het
Vps37a	G	T	8: 40,993,771 (GRCm39)	Q255H	probably damaging	Het
Zfp352	C	T	4: 90,112,391 (GRCm39)	A177V	possibly 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
IGL02507:Fndc4	APN	5	31,452,090 (GRCm39)	missense	probably damaging	1.00
IGL02702:Fndc4	APN	5	31,451,079 (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

2014-05-07