Mutagenetix > Incidental Mutation

Incidental Mutation 'R7055:Fndc4'

547843

Institutional Source

Beutler Lab

Gene Symbol

Fndc4

Ensembl Gene

ENSMUSG00000038552

Gene Name

fibronectin type III domain containing 4

Synonyms

6330410H20Rik, FRCP1, 2810430J06Rik

MMRRC Submission

045152-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7055 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31449586-31453279 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31451522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 153 (E153G)

Ref Sequence

ENSEMBL: ENSMUSP00000144195 (fasta)

Gene Model

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

AlphaFold

Q3TR08

Predicted Effect

probably benign
Transcript: ENSMUST00000041266
AA Change: E153G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047185
Gene: ENSMUSG00000038552
AA Change: E153G

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
AA Change: E153G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127404
Gene: ENSMUSG00000038552
AA Change: E153G

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: ENSMUST00000201166

SMART Domains

Protein: ENSMUSP00000144202
Gene: ENSMUSG00000059434

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000202158

Predicted Effect

probably benign
Transcript: ENSMUST00000202615
AA Change: E153G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000144195
Gene: ENSMUSG00000038552
AA Change: E153G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,062,083 (GRCm39)	S178P	probably damaging	Het
2610008E11Rik	C	T	10: 78,903,681 (GRCm39)	E212K	probably damaging	Het
Abcc4	A	T	14: 118,832,197 (GRCm39)	L736*	probably null	Het
Acmsd	A	T	1: 127,681,570 (GRCm39)	M178L	probably benign	Het
Adpgk	T	A	9: 59,220,476 (GRCm39)	M266K	possibly damaging	Het
Aldh1b1	G	A	4: 45,802,909 (GRCm39)	R149H	possibly damaging	Het
Aox1	A	G	1: 58,338,927 (GRCm39)	T307A	probably benign	Het
C1galt1	T	C	6: 7,866,585 (GRCm39)	Y144H	probably damaging	Het
Cabin1	G	C	10: 75,579,117 (GRCm39)	Q440E	probably benign	Het
Casq2	A	G	3: 102,049,561 (GRCm39)	S231G	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Cdan1	A	G	2: 120,558,342 (GRCm39)	I490T	probably damaging	Het
Cep170b	T	A	12: 112,702,149 (GRCm39)	V314E	probably damaging	Het
Col4a4	T	C	1: 82,496,757 (GRCm39)	E413G	unknown	Het
Cyp3a25	A	C	5: 145,929,801 (GRCm39)	F189L	probably benign	Het
Dido1	T	A	2: 180,303,002 (GRCm39)	H1634L	probably benign	Het
Dnaja2	A	C	8: 86,275,303 (GRCm39)	V156G	probably benign	Het
Dpy19l4	T	C	4: 11,290,291 (GRCm39)		probably null	Het
Eomes	A	T	9: 118,309,567 (GRCm39)	N240I	possibly damaging	Het
Fads6	A	G	11: 115,176,229 (GRCm39)	F199L	probably benign	Het
Fbrs	T	C	7: 127,086,956 (GRCm39)		probably null	Het
Fv1	TTCTCTCTCTCTCTC	TTCTCTCTCTCTCTCTC	4: 147,954,775 (GRCm39)		probably null	Het
Fzr1	T	C	10: 81,206,057 (GRCm39)	Y210C	probably damaging	Het
Gjc2	T	A	11: 59,067,856 (GRCm39)	M209L	unknown	Het
Gpr33	A	G	12: 52,071,036 (GRCm39)	M1T	probably null	Het
Gtf2a1	A	T	12: 91,553,523 (GRCm39)	I28N	possibly damaging	Het
Igf2r	A	C	17: 12,923,210 (GRCm39)	Y1200D	probably damaging	Het
Ivd	C	T	2: 118,703,730 (GRCm39)	T212I	probably damaging	Het
Jag1	A	G	2: 136,957,409 (GRCm39)	V101A	probably benign	Het
Kansl3	A	T	1: 36,404,701 (GRCm39)	V83D	possibly damaging	Het
Krt81	T	A	15: 101,359,006 (GRCm39)	I249F	probably benign	Het
Krtap21-1	G	A	16: 89,200,591 (GRCm39)	S17L	unknown	Het
Macf1	A	T	4: 123,302,989 (GRCm39)	H504Q	probably benign	Het
Map2	A	G	1: 66,455,983 (GRCm39)	T1499A	probably damaging	Het
Map3k9	T	C	12: 81,770,982 (GRCm39)	T892A	probably damaging	Het
Mcl1	G	A	3: 95,567,110 (GRCm39)	V178I	probably benign	Het
Mrs2	T	A	13: 25,188,937 (GRCm39)	M126L	probably benign	Het
Msantd1	C	A	5: 35,075,005 (GRCm39)	N9K	probably benign	Het
Myh9	C	T	15: 77,659,398 (GRCm39)	R116H	probably damaging	Het
Nfib	A	T	4: 82,248,662 (GRCm39)	D308E	probably benign	Het
Nme2	T	A	11: 93,846,416 (GRCm39)	I11F	probably damaging	Het
Nmnat3	A	G	9: 98,292,286 (GRCm39)	D111G	probably benign	Het
Or5d37	T	A	2: 87,924,045 (GRCm39)	L78F	probably damaging	Het
Papss2	T	C	19: 32,641,827 (GRCm39)	W501R	probably damaging	Het
Parn	A	G	16: 13,443,998 (GRCm39)	I384T	possibly damaging	Het
Pcdhb18	A	G	18: 37,623,864 (GRCm39)	D398G	possibly damaging	Het
Pdcl2	T	C	5: 76,465,771 (GRCm39)	N102D	probably benign	Het
Pdzrn3	C	A	6: 101,128,735 (GRCm39)	E644*	probably null	Het
Pi4ka	T	A	16: 17,134,879 (GRCm39)		probably benign	Het
Polg2	A	G	11: 106,668,040 (GRCm39)	F216L	probably damaging	Het
Prkcsh	A	G	9: 21,924,457 (GRCm39)	*522W	probably null	Het
Prkcz	G	T	4: 155,374,091 (GRCm39)	D108E	probably benign	Het
Pros1	T	C	16: 62,748,465 (GRCm39)	V646A	possibly damaging	Het
Ptprc	A	G	1: 138,017,309 (GRCm39)	I483T	probably damaging	Het
Rabep2	T	C	7: 126,044,485 (GRCm39)	I527T	possibly damaging	Het
Rad50	T	C	11: 53,578,929 (GRCm39)	K543R	probably benign	Het
Samd4b	A	G	7: 28,103,458 (GRCm39)	I553T	probably benign	Het
Sbpl	A	T	17: 24,172,276 (GRCm39)	N214K	unknown	Het
Scgb2b11	C	T	7: 31,909,907 (GRCm39)	E60K	possibly damaging	Het
Sgk3	G	A	1: 9,956,284 (GRCm39)	E331K	probably damaging	Het
Snx6	A	T	12: 54,830,864 (GRCm39)	L32Q	probably damaging	Het
Srgap3	T	A	6: 112,723,924 (GRCm39)	Q512L	probably damaging	Het
Srsf12	A	G	4: 33,226,157 (GRCm39)	D135G	probably damaging	Het
Steap4	A	G	5: 8,026,858 (GRCm39)	T274A	probably damaging	Het
Svep1	A	T	4: 58,064,275 (GRCm39)	V3236D	probably benign	Het
Svep1	A	T	4: 58,120,642 (GRCm39)	F797Y	probably benign	Het
Tmem116	T	C	5: 121,605,987 (GRCm39)	L113P	probably damaging	Het
Tnfrsf1b	A	G	4: 144,951,457 (GRCm39)	V161A	probably damaging	Het
Tnpo1	G	T	13: 98,991,987 (GRCm39)	Q622K	possibly damaging	Het
Top1mt	A	G	15: 75,550,523 (GRCm39)	V28A	probably benign	Het
Trim25	T	C	11: 88,890,750 (GRCm39)	S146P	probably benign	Het
Tuba3b	A	G	6: 145,566,935 (GRCm39)	D392G	possibly damaging	Het
Utrn	C	T	10: 12,623,665 (GRCm39)	R191Q	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy2	T	A	14: 63,137,748 (GRCm39)	S84T	probably benign	Het
Zfp873	T	A	10: 81,895,832 (GRCm39)	F225I	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTCTGGGCTTGCAGAAG -3'
(R):5'- CAAAGGTTTCTCCCTGAGCAG -3'

Sequencing Primer
(F):5'- TCGAAGTTGTCCCGATTACC -3'
(R):5'- CCTGAGCAGGGCCACCC -3'

Posted On

2019-05-13