Mutagenetix > Incidental Mutation

Incidental Mutation 'R8071:Fndc1'

628942

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

067506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R8071 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7957401-8046134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7991362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 778 (D778V)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097425]

AlphaFold

A0A6I8MWX0

Predicted Effect

unknown
Transcript: ENSMUST00000097425
AA Change: D778V

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: D778V

Domain	Start	End	E-Value	Type
Blast:FN3	1	50	6e-25	BLAST
FN3	54	137	7.82e-4	SMART
FN3	156	240	1.48e-4	SMART
FN3	256	340	3.67e-9	SMART
low complexity region	377	388	N/A	INTRINSIC
low complexity region	579	601	N/A	INTRINSIC
low complexity region	646	676	N/A	INTRINSIC
low complexity region	766	777	N/A	INTRINSIC
low complexity region	868	884	N/A	INTRINSIC
low complexity region	1021	1027	N/A	INTRINSIC
low complexity region	1036	1050	N/A	INTRINSIC
low complexity region	1076	1090	N/A	INTRINSIC
Blast:FN3	1227	1276	2e-18	BLAST
low complexity region	1277	1354	N/A	INTRINSIC
low complexity region	1395	1403	N/A	INTRINSIC
low complexity region	1407	1423	N/A	INTRINSIC
FN3	1494	1577	4.32e-6	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 98.8%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	T	C	5: 115,251,226 (GRCm39)	E86G	probably benign	Het
Agmo	A	G	12: 37,448,728 (GRCm39)	T217A	probably damaging	Het
Arhgap39	A	G	15: 76,621,702 (GRCm39)	S300P	probably benign	Het
Casp12	T	C	9: 5,346,647 (GRCm39)	L58P	probably damaging	Het
Ccar2	T	C	14: 70,389,902 (GRCm39)	T24A	probably benign	Het
Ccndbp1	C	A	2: 120,845,046 (GRCm39)	T321K	unknown	Het
Cd200r3	G	A	16: 44,774,503 (GRCm39)	C172Y	probably damaging	Het
Chd2	T	A	7: 73,187,132 (GRCm39)	H9L	probably benign	Het
Cracdl	C	A	1: 37,663,010 (GRCm39)	E963*	probably null	Het
Cramp1	T	A	17: 25,201,674 (GRCm39)	S603C	probably damaging	Het
Crtac1	C	T	19: 42,286,239 (GRCm39)	R448H	probably damaging	Het
Csmd2	A	T	4: 128,287,331 (GRCm39)	Y1022F		Het
Ctns	T	C	11: 73,075,760 (GRCm39)	Y363C	probably damaging	Het
D630044L22Rik	A	G	17: 26,179,118 (GRCm39)	T15A	possibly damaging	Het
Dhx38	A	C	8: 110,285,333 (GRCm39)	I444M	probably benign	Het
Dnah14	A	T	1: 181,443,459 (GRCm39)	I450F	possibly damaging	Het
Dpf1	T	C	7: 29,013,566 (GRCm39)	F245L	probably benign	Het
Efr3b	A	G	12: 4,032,898 (GRCm39)	V269A	probably benign	Het
Eprs1	G	T	1: 185,126,653 (GRCm39)	V530L	possibly damaging	Het
Eps8l2	A	G	7: 140,922,860 (GRCm39)	N41S	probably damaging	Het
Erbb4	T	C	1: 68,435,470 (GRCm39)	I142M	probably damaging	Het
Fhip1a	T	C	3: 85,637,868 (GRCm39)	M144V	probably damaging	Het
Flnc	A	T	6: 29,457,445 (GRCm39)	D2381V	probably damaging	Het
Galnt3	A	G	2: 65,921,555 (GRCm39)	I492T	probably benign	Het
Gigyf2	T	C	1: 87,374,155 (GRCm39)	M1261T	probably damaging	Het
Haus8	A	G	8: 71,708,695 (GRCm39)	F126S	probably benign	Het
Hif3a	A	G	7: 16,782,686 (GRCm39)	L293S	probably damaging	Het
Ino80c	G	A	18: 24,239,707 (GRCm39)	T200I	unknown	Het
Jag1	T	A	2: 136,943,717 (GRCm39)	M160L	probably benign	Het
Kcnj12	C	A	11: 60,960,825 (GRCm39)	H374Q	probably damaging	Het
Lrrc27	A	G	7: 138,816,902 (GRCm39)	I433M	probably benign	Het
Lyzl4	C	T	9: 121,407,160 (GRCm39)	W123*	probably null	Het
Map2k4	A	T	11: 65,597,827 (GRCm39)	C264S		Het
Mmrn1	C	T	6: 60,921,508 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,850,631 (GRCm39)	T709I	probably benign	Het
Myo9a	T	A	9: 59,781,931 (GRCm39)	W1706R	probably benign	Het
Nlrp5	A	G	7: 23,117,869 (GRCm39)	E531G	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Pcdhb11	A	C	18: 37,555,422 (GRCm39)	I251L	probably benign	Het
Per3	A	G	4: 151,113,270 (GRCm39)	S353P	probably damaging	Het
Piezo1	T	C	8: 123,213,750 (GRCm39)	E1738G	probably null	Het
Prr14l	T	C	5: 32,988,508 (GRCm39)	D329G	probably benign	Het
Ptpn23	G	T	9: 110,217,267 (GRCm39)	P863Q	probably damaging	Het
Ptpn23	G	T	9: 110,217,268 (GRCm39)	P863T	possibly damaging	Het
Ptprq	T	C	10: 107,479,896 (GRCm39)	K1125E	possibly damaging	Het
Rapgef2	T	G	3: 79,000,343 (GRCm39)	T351P	probably damaging	Het
Rbl2	A	G	8: 91,840,617 (GRCm39)	Y923C	probably damaging	Het
Rimbp3	T	C	16: 17,028,727 (GRCm39)	V717A	probably benign	Het
Rims1	C	T	1: 22,358,760 (GRCm39)	W182*	probably null	Het
Rnmt	A	G	18: 68,440,723 (GRCm39)	K129E	probably benign	Het
Ruvbl1	T	C	6: 88,450,108 (GRCm39)	F93S	probably damaging	Het
Scamp5	T	C	9: 57,350,969 (GRCm39)	Y231C	probably damaging	Het
Sfxn5	T	A	6: 85,244,921 (GRCm39)		probably null	Het
Skic2	A	T	17: 35,068,975 (GRCm39)	V8D	probably benign	Het
Slc12a1	T	C	2: 125,028,234 (GRCm39)	F510S	probably damaging	Het
Sowahb	T	C	5: 93,190,922 (GRCm39)	Y599C	probably damaging	Het
Speer4e1	T	C	5: 14,987,111 (GRCm39)	N98S	probably damaging	Het
Stat3	T	C	11: 100,784,807 (GRCm39)	N553S	probably benign	Het
Sult6b2	A	T	6: 142,735,868 (GRCm39)	L242Q	probably damaging	Het
Tacc3	C	T	5: 33,821,169 (GRCm39)	R98W	possibly damaging	Het
Tuba4a	C	T	1: 75,193,595 (GRCm39)	R112H		Het
Ubr3	T	A	2: 69,819,220 (GRCm39)	S1337T	probably damaging	Het
Vmn2r69	A	T	7: 85,055,713 (GRCm39)	C808*	probably null	Het
Wnt16	G	A	6: 22,288,997 (GRCm39)	A105T	probably benign	Het
Zfp692	C	T	11: 58,198,560 (GRCm39)	S50L	probably damaging	Het

Other mutations in Fndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Fndc1	APN	17	7,984,086 (GRCm39)	missense	unknown
IGL00590:Fndc1	APN	17	7,983,933 (GRCm39)	missense	unknown
IGL00765:Fndc1	APN	17	7,991,525 (GRCm39)	missense	unknown
IGL00904:Fndc1	APN	17	7,975,195 (GRCm39)	missense	probably benign	0.35
IGL01153:Fndc1	APN	17	7,998,874 (GRCm39)	critical splice donor site	probably null
IGL01557:Fndc1	APN	17	7,975,221 (GRCm39)	missense	probably damaging	0.99
IGL02493:Fndc1	APN	17	7,994,377 (GRCm39)	missense	unknown
IGL02501:Fndc1	APN	17	7,984,230 (GRCm39)	missense	unknown
IGL02503:Fndc1	APN	17	7,990,348 (GRCm39)	missense	unknown
IGL02887:Fndc1	APN	17	7,992,470 (GRCm39)	missense	unknown
IGL03348:Fndc1	APN	17	7,991,479 (GRCm39)	missense	unknown
pinnacle	UTSW	17	7,992,154 (GRCm39)	missense	unknown
spire	UTSW	17	7,990,312 (GRCm39)	missense	unknown
IGL02988:Fndc1	UTSW	17	7,972,355 (GRCm39)	missense	possibly damaging	0.95
PIT4466001:Fndc1	UTSW	17	7,969,206 (GRCm39)	missense	probably damaging	1.00
R0336:Fndc1	UTSW	17	7,983,939 (GRCm39)	missense	unknown
R0403:Fndc1	UTSW	17	7,994,420 (GRCm39)	splice site	probably null
R0403:Fndc1	UTSW	17	7,972,555 (GRCm39)	missense	probably damaging	1.00
R0538:Fndc1	UTSW	17	8,003,173 (GRCm39)	splice site	probably benign
R0646:Fndc1	UTSW	17	7,960,505 (GRCm39)	missense	possibly damaging	0.92
R1140:Fndc1	UTSW	17	7,994,258 (GRCm39)	missense	unknown
R1523:Fndc1	UTSW	17	7,992,041 (GRCm39)	missense	unknown
R1609:Fndc1	UTSW	17	7,991,598 (GRCm39)	missense	unknown
R1632:Fndc1	UTSW	17	7,992,032 (GRCm39)	missense	unknown
R1888:Fndc1	UTSW	17	7,990,621 (GRCm39)	missense	unknown
R1888:Fndc1	UTSW	17	7,990,621 (GRCm39)	missense	unknown
R2004:Fndc1	UTSW	17	8,023,761 (GRCm39)	missense	probably damaging	1.00
R2007:Fndc1	UTSW	17	7,997,580 (GRCm39)	unclassified	probably benign
R2128:Fndc1	UTSW	17	7,997,497 (GRCm39)	unclassified	probably benign
R2187:Fndc1	UTSW	17	7,960,604 (GRCm39)	missense	probably damaging	1.00
R2251:Fndc1	UTSW	17	7,972,439 (GRCm39)	missense	probably damaging	1.00
R2322:Fndc1	UTSW	17	8,007,847 (GRCm39)	missense	probably damaging	0.98
R2425:Fndc1	UTSW	17	8,023,850 (GRCm39)	missense	probably damaging	1.00
R2921:Fndc1	UTSW	17	8,023,707 (GRCm39)	missense	probably damaging	0.98
R2985:Fndc1	UTSW	17	7,975,155 (GRCm39)	missense	possibly damaging	0.93
R3436:Fndc1	UTSW	17	7,969,189 (GRCm39)	missense	probably damaging	0.99
R3499:Fndc1	UTSW	17	7,972,416 (GRCm39)	missense	possibly damaging	0.70
R3508:Fndc1	UTSW	17	7,983,940 (GRCm39)	nonsense	probably null
R3766:Fndc1	UTSW	17	8,003,253 (GRCm39)	missense	probably damaging	1.00
R3813:Fndc1	UTSW	17	7,992,154 (GRCm39)	missense	unknown
R3814:Fndc1	UTSW	17	7,992,154 (GRCm39)	missense	unknown
R4031:Fndc1	UTSW	17	7,988,584 (GRCm39)	nonsense	probably null
R4544:Fndc1	UTSW	17	7,992,376 (GRCm39)	missense	unknown
R4583:Fndc1	UTSW	17	7,958,081 (GRCm39)	missense	probably damaging	1.00
R4619:Fndc1	UTSW	17	7,984,036 (GRCm39)	missense	unknown
R4700:Fndc1	UTSW	17	7,990,312 (GRCm39)	missense	unknown
R4743:Fndc1	UTSW	17	7,991,111 (GRCm39)	nonsense	probably null
R4803:Fndc1	UTSW	17	7,972,538 (GRCm39)	missense	probably damaging	0.98
R4862:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R4876:Fndc1	UTSW	17	7,990,471 (GRCm39)	missense	unknown
R5057:Fndc1	UTSW	17	7,990,802 (GRCm39)	nonsense	probably null
R5327:Fndc1	UTSW	17	7,991,540 (GRCm39)	missense	unknown
R5372:Fndc1	UTSW	17	7,984,042 (GRCm39)	missense	unknown
R5533:Fndc1	UTSW	17	7,991,608 (GRCm39)	missense	unknown
R5754:Fndc1	UTSW	17	7,988,585 (GRCm39)	missense	unknown
R5762:Fndc1	UTSW	17	7,990,366 (GRCm39)	missense	unknown
R5830:Fndc1	UTSW	17	8,007,918 (GRCm39)	missense	possibly damaging	0.87
R5924:Fndc1	UTSW	17	7,992,442 (GRCm39)	missense	unknown
R6147:Fndc1	UTSW	17	7,972,594 (GRCm39)	splice site	probably null
R6175:Fndc1	UTSW	17	7,991,479 (GRCm39)	missense	unknown
R6303:Fndc1	UTSW	17	7,977,317 (GRCm39)	missense	probably damaging	0.98
R6377:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R6704:Fndc1	UTSW	17	7,990,642 (GRCm39)	missense	unknown
R6857:Fndc1	UTSW	17	7,991,002 (GRCm39)	missense	unknown
R6865:Fndc1	UTSW	17	7,991,672 (GRCm39)	missense	unknown
R7069:Fndc1	UTSW	17	7,988,567 (GRCm39)	missense	unknown
R7153:Fndc1	UTSW	17	8,020,477 (GRCm39)	missense	probably damaging	1.00
R7159:Fndc1	UTSW	17	8,019,763 (GRCm39)	missense	probably damaging	0.97
R7359:Fndc1	UTSW	17	8,032,318 (GRCm39)	splice site	probably null
R7731:Fndc1	UTSW	17	7,992,271 (GRCm39)	missense	unknown
R7743:Fndc1	UTSW	17	7,983,969 (GRCm39)	missense	unknown
R7884:Fndc1	UTSW	17	7,992,029 (GRCm39)	missense	unknown
R8100:Fndc1	UTSW	17	7,990,685 (GRCm39)	missense	unknown
R8317:Fndc1	UTSW	17	8,019,720 (GRCm39)	nonsense	probably null
R8362:Fndc1	UTSW	17	8,001,207 (GRCm39)	missense	unknown
R8835:Fndc1	UTSW	17	7,958,111 (GRCm39)	missense	probably damaging	1.00
R8841:Fndc1	UTSW	17	7,992,181 (GRCm39)	missense	unknown
R8912:Fndc1	UTSW	17	8,019,778 (GRCm39)	missense	probably null	0.26
R9236:Fndc1	UTSW	17	7,992,460 (GRCm39)	missense	unknown
R9392:Fndc1	UTSW	17	7,991,957 (GRCm39)	missense	unknown
R9412:Fndc1	UTSW	17	7,991,198 (GRCm39)	missense	unknown
R9618:Fndc1	UTSW	17	7,990,313 (GRCm39)	missense	unknown
R9632:Fndc1	UTSW	17	7,991,622 (GRCm39)	missense	unknown
R9748:Fndc1	UTSW	17	7,991,929 (GRCm39)	missense	unknown
Z1088:Fndc1	UTSW	17	8,001,311 (GRCm39)	missense	probably damaging	0.96
Z1176:Fndc1	UTSW	17	8,023,709 (GRCm39)	missense	possibly damaging	0.90
Z1176:Fndc1	UTSW	17	7,992,425 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGTGCCATTCTTCTGGGAAC -3'
(R):5'- CTACCTCAGCCTCGAAAGTC -3'

Sequencing Primer
(F):5'- CTGGATGTCTAGCAGGGGAC -3'
(R):5'- TCGAAAGTCCTCACCAGGG -3'

Posted On

2020-06-30