Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02748:Fndc4'

306160

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 #

IGL02748

Quality Score

Status

Chromosome

Chromosomal Location

31449586-31453279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31452130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 96 (T96A)

Ref Sequence

ENSEMBL: ENSMUSP00000127404 (fasta)

Gene Model

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

AlphaFold

Q3TR08

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041266
AA Change: T96A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552
AA Change: T96A

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: T96A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552
AA Change: T96A

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

possibly damaging
Transcript: ENSMUST00000201417
AA Change: T96A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144142
Gene: ENSMUSG00000038552
AA Change: T96A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202615
AA Change: T96A

PolyPhen 2 Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552
AA Change: T96A

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: ENSMUST00000202312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201906

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202456

Predicted Effect

probably benign
Transcript: ENSMUST00000202158

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: ENSMUST00000201809

SMART Domains

Protein: ENSMUSP00000144425
Gene: ENSMUSG00000038564

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Baiap2l1	T	A	5: 144,203,415 (GRCm39)		probably benign	Het
Btbd9	T	C	17: 30,553,271 (GRCm39)	N397S	possibly damaging	Het
Crlf3	A	G	11: 79,950,145 (GRCm39)	S162P	probably damaging	Het
Dctn2	C	T	10: 127,113,142 (GRCm39)	R231C	probably damaging	Het
Dhcr24	T	C	4: 106,421,589 (GRCm39)		probably benign	Het
Efcab12	T	A	6: 115,797,063 (GRCm39)	T364S	probably damaging	Het
Eps8l3	A	G	3: 107,786,684 (GRCm39)		probably benign	Het
Ezh2	A	G	6: 47,535,173 (GRCm39)	L92P	probably damaging	Het
Fbxw15	A	G	9: 109,387,278 (GRCm39)	I239T	possibly damaging	Het
Gcn1	G	A	5: 115,748,859 (GRCm39)		probably null	Het
Ifna13	A	G	4: 88,562,097 (GRCm39)	S176P	probably damaging	Het
Kcnh1	A	G	1: 191,903,728 (GRCm39)	H56R	probably damaging	Het
Lrp1b	T	C	2: 40,592,761 (GRCm39)	D3786G	probably damaging	Het
Mcm3ap	T	A	10: 76,337,082 (GRCm39)	V1339E	probably damaging	Het
Mthfd1l	T	C	10: 3,968,587 (GRCm39)	V414A	possibly damaging	Het
Mthfd1l	T	G	10: 3,930,268 (GRCm39)		probably null	Het
Or10ag56	T	A	2: 87,140,009 (GRCm39)	L312Q	probably damaging	Het
Or5an1c	A	G	19: 12,218,204 (GRCm39)	F274L	probably benign	Het
Or6b3	A	G	1: 92,439,189 (GRCm39)	L187P	probably damaging	Het
Pcdhb15	T	C	18: 37,608,273 (GRCm39)	S502P	probably damaging	Het
Pde5a	T	A	3: 122,554,541 (GRCm39)	N242K	probably damaging	Het
Pik3cb	A	T	9: 98,945,021 (GRCm39)		probably benign	Het
Rab3gap1	A	G	1: 127,865,198 (GRCm39)	M729V	probably damaging	Het
Rai14	A	G	15: 10,589,421 (GRCm39)	V259A	probably benign	Het
Rassf4	T	C	6: 116,616,418 (GRCm39)	I298V	possibly damaging	Het
Senp7	C	T	16: 56,006,457 (GRCm39)	T927M	probably damaging	Het
Snx27	A	T	3: 94,410,872 (GRCm39)	I426N	probably benign	Het
Syce1l	A	T	8: 114,382,097 (GRCm39)		probably benign	Het
Tmem18	T	C	12: 30,638,744 (GRCm39)	*141Q	probably null	Het
Tnrc6c	T	C	11: 117,622,996 (GRCm39)	S1006P	probably benign	Het
Utp20	T	C	10: 88,653,157 (GRCm39)	T308A	probably benign	Het
Vmn2r24	T	A	6: 123,793,057 (GRCm39)	C795S	possibly damaging	Het
Zdhhc20	A	G	14: 58,096,010 (GRCm39)	S143P	probably benign	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
IGL02702:Fndc4	APN	5	31,451,079 (GRCm39)	missense	probably damaging	1.00
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