Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Fndc9'

610000

Institutional Source

Beutler Lab

Gene Symbol

Fndc9

Ensembl Gene

ENSMUSG00000048721

Gene Name

fibronectin type III domain containing 9

Synonyms

C030019I05Rik

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46126384-46130698 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46128576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 32 (Y32H)

Ref Sequence

ENSEMBL: ENSMUSP00000060509 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060185] [ENSMUST00000093165] [ENSMUST00000093166] [ENSMUST00000165599]

AlphaFold

Q8BJN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000060185
AA Change: Y32H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060509
Gene: ENSMUSG00000048721
AA Change: Y32H

Domain	Start	End	E-Value	Type
Blast:FN3	1	85	5e-53	BLAST
SCOP:d1fnf_2	2	82	5e-8	SMART
transmembrane domain	116	138	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093165

SMART Domains

Protein: ENSMUSP00000090853
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:DUF1394	59	303	5.4e-12	PFAM
Pfam:FragX_IP	388	1221	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093166

SMART Domains

Protein: ENSMUSP00000090854
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142017

SMART Domains

Protein: ENSMUSP00000119801
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
Pfam:FragX_IP	58	230	4e-66	PFAM
Pfam:FragX_IP	246	916	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165599

SMART Domains

Protein: ENSMUSP00000127586
Gene: ENSMUSG00000020340

Domain	Start	End	E-Value	Type
low complexity region	15	27	N/A	INTRINSIC
Pfam:FragX_IP	384	1223	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Ell2	A	T	13: 75,912,105 (GRCm39)	K464*	probably null	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gm5145	A	C	17: 20,790,900 (GRCm39)	I93L	possibly damaging	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Uts2r	G	A	11: 121,052,234 (GRCm39)	S366N	probably benign	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Fndc9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Fndc9	APN	11	46,128,526 (GRCm39)	missense	probably benign	0.17
IGL02314:Fndc9	APN	11	46,129,122 (GRCm39)	missense	probably benign	0.00
R0565:Fndc9	UTSW	11	46,128,984 (GRCm39)	missense	probably damaging	1.00
R1518:Fndc9	UTSW	11	46,128,930 (GRCm39)	missense	probably benign	0.16
R1677:Fndc9	UTSW	11	46,129,152 (GRCm39)	missense	probably benign
R2847:Fndc9	UTSW	11	46,128,868 (GRCm39)	missense	probably damaging	1.00
R4631:Fndc9	UTSW	11	46,128,675 (GRCm39)	missense	possibly damaging	0.91
R5403:Fndc9	UTSW	11	46,128,541 (GRCm39)	missense	probably benign	0.00
R6572:Fndc9	UTSW	11	46,128,708 (GRCm39)	missense	probably damaging	0.99
R7805:Fndc9	UTSW	11	46,129,138 (GRCm39)	missense	probably damaging	0.99
R9046:Fndc9	UTSW	11	46,128,889 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATGTCAGTATCTGTGGCCATCTC -3'
(R):5'- CAGGGTGTGGAACATGGTAC -3'

Sequencing Primer
(F):5'- AGTATCTGTGGCCATCTCATGCG -3'
(R):5'- TGGTACAGTAGTGACTATACGGG -3'

Posted On

2019-12-20