Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00484:Fndc4'

6456

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 #

IGL00484

Quality Score

Status

Chromosome

Chromosomal Location

31449586-31453279 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 31450840 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] [ENSMUST00000202158] [ENSMUST00000201417] [ENSMUST00000201809] [ENSMUST00000202615] [ENSMUST00000201675]

AlphaFold

Q3TR08

Predicted Effect

probably benign
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 benign
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

probably benign
Transcript: ENSMUST00000202158

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202909

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201906

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: 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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra1	A	G	7: 139,455,860 (GRCm39)	Q496R	probably benign	Het
Ankrd17	A	T	5: 90,416,220 (GRCm39)	S1151T	probably damaging	Het
Ankrd55	A	G	13: 112,504,328 (GRCm39)	K330R	probably benign	Het
Anln	A	T	9: 22,272,120 (GRCm39)	Y666*	probably null	Het
Atp1a2	A	G	1: 172,103,569 (GRCm39)	W984R	probably damaging	Het
Atp8b3	G	T	10: 80,361,998 (GRCm39)		probably benign	Het
Casc3	A	G	11: 98,714,028 (GRCm39)	E420G	possibly damaging	Het
Cep250	G	A	2: 155,833,249 (GRCm39)	D1724N	probably benign	Het
Dhx15	T	G	5: 52,324,154 (GRCm39)	E379D	probably benign	Het
Dock1	T	A	7: 134,748,260 (GRCm39)		probably benign	Het
Exph5	C	T	9: 53,288,006 (GRCm39)	Q1696*	probably null	Het
Fkbp6	C	A	5: 135,368,802 (GRCm39)	A213S	possibly damaging	Het
Gli3	A	T	13: 15,818,977 (GRCm39)	T260S	possibly damaging	Het
Glmp	T	A	3: 88,233,169 (GRCm39)		probably null	Het
H2ac22	G	T	13: 21,971,091 (GRCm39)	R100S	probably benign	Het
Hapstr1	T	C	16: 8,649,175 (GRCm39)		probably benign	Het
Ighv1-19	G	A	12: 114,672,329 (GRCm39)	T97I	probably benign	Het
Kdm6b	T	C	11: 69,297,132 (GRCm39)	S407G	possibly damaging	Het
Lrp1b	T	C	2: 41,000,873 (GRCm39)	Y2231C	probably damaging	Het
Lyst	T	A	13: 13,884,188 (GRCm39)	S2999T	probably benign	Het
Lztr1	T	C	16: 17,335,314 (GRCm39)		probably benign	Het
N4bp2	T	C	5: 65,964,867 (GRCm39)	V972A	probably damaging	Het
Ncoa6	A	T	2: 155,248,128 (GRCm39)	S1725R	probably damaging	Het
Nfkbiz	A	G	16: 55,638,272 (GRCm39)	V396A	probably benign	Het
Nup205	A	G	6: 35,191,737 (GRCm39)	Q1074R	probably damaging	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Peli1	T	A	11: 21,096,952 (GRCm39)	V114E	probably damaging	Het
Phf20l1	T	G	15: 66,487,482 (GRCm39)		probably benign	Het
Pik3r1	A	C	13: 101,838,255 (GRCm39)	I267S	probably benign	Het
Polh	C	T	17: 46,483,169 (GRCm39)		probably benign	Het
Ppl	A	G	16: 4,905,816 (GRCm39)	I1493T	probably benign	Het
Pramel19	T	C	4: 101,798,898 (GRCm39)	F290L	probably benign	Het
Pramel28	G	A	4: 143,693,184 (GRCm39)		probably benign	Het
Prg3	A	G	2: 84,819,091 (GRCm39)	I6V	probably benign	Het
Ptprg	T	C	14: 12,215,220 (GRCm38)	V1069A	probably damaging	Het
Rasal2	A	T	1: 157,001,745 (GRCm39)		probably null	Het
Slc36a2	A	T	11: 55,053,614 (GRCm39)	Y341*	probably null	Het
Snapc3	A	G	4: 83,354,633 (GRCm39)	I215V	probably damaging	Het
Srrm2	T	A	17: 24,037,492 (GRCm39)	S1475T	probably benign	Het
Sycp2	A	T	2: 178,024,141 (GRCm39)	D414E	probably damaging	Het
Tanc1	A	G	2: 59,623,520 (GRCm39)	T468A	probably benign	Het
Tfap2d	A	G	1: 19,213,105 (GRCm39)	T310A	probably benign	Het
Tgfbr2	T	A	9: 115,987,357 (GRCm39)	I51F	probably benign	Het
Trip11	A	T	12: 101,851,570 (GRCm39)	C546*	probably null	Het
Ttbk2	C	T	2: 120,604,367 (GRCm39)	W210*	probably null	Het
Upk1b	T	G	16: 38,600,378 (GRCm39)	N201H	possibly damaging	Het
Uqcc5	T	A	14: 30,810,879 (GRCm39)		probably benign	Het
Ush2a	A	T	1: 188,514,710 (GRCm39)	T3180S	probably benign	Het
Vps13d	T	G	4: 144,853,145 (GRCm39)	Q2323P	probably benign	Het
Zfp810	A	T	9: 22,189,605 (GRCm39)	Y434*	probably null	Het

Other mutations in Fndc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20