Mutagenetix > Incidental Mutation

Incidental Mutation 'R3508:Fndc1'

267495

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

040664-MU

Accession Numbers

Essential gene?

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

Stock #

R3508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7957401-8046134 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 7983940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 1329 (R1329*)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

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

AlphaFold

A0A6I8MWX0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097424

Predicted Effect

probably null
Transcript: ENSMUST00000097425
AA Change: R1329*

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: R1329*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114579

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,953,991 (GRCm39)	F816L	probably benign	Het
Adgrl3	C	A	5: 81,872,103 (GRCm39)	N932K	probably damaging	Het
Apol8	T	C	15: 77,633,643 (GRCm39)	E311G	probably damaging	Het
Atad2b	G	A	12: 5,000,595 (GRCm39)		probably null	Het
Carmil1	A	G	13: 24,203,659 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,217,576 (GRCm39)	S332P	possibly damaging	Het
Cep162	A	G	9: 87,114,030 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,721,286 (GRCm39)	S2482C	unknown	Het
Cnpy1	T	C	5: 28,412,365 (GRCm39)	E107G	probably damaging	Het
Crtac1	C	T	19: 42,293,180 (GRCm39)	V310I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,789,402 (GRCm39)	I706T	probably damaging	Het
F12	T	C	13: 55,568,872 (GRCm39)	T297A	probably benign	Het
Fanci	A	G	7: 79,083,220 (GRCm39)	I736V	probably benign	Het
Fbn1	T	C	2: 125,148,247 (GRCm39)	N2667S	probably benign	Het
Flt4	T	C	11: 49,524,941 (GRCm39)	S596P	probably damaging	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
H2-M10.1	T	G	17: 36,636,506 (GRCm39)	R99S	possibly damaging	Het
Homer3	T	A	8: 70,744,005 (GRCm39)	V243D	probably benign	Het
Hspa14	A	G	2: 3,492,045 (GRCm39)	S437P	probably damaging	Het
Inpp1	A	T	1: 52,838,550 (GRCm39)	I33N	probably damaging	Het
Ipo5	T	A	14: 121,176,956 (GRCm39)	Y714N	probably damaging	Het
Kif27	T	C	13: 58,461,026 (GRCm39)	E898G	possibly damaging	Het
Klhdc7b	T	A	15: 89,271,095 (GRCm39)	M1K	probably null	Het
Krt87	A	G	15: 101,386,039 (GRCm39)	Y241H	probably benign	Het
Mfsd4b1	A	G	10: 39,878,715 (GRCm39)	I394T	probably benign	Het
Micall1	A	G	15: 79,006,965 (GRCm39)	D264G	probably damaging	Het
Mms22l	T	G	4: 24,586,224 (GRCm39)	D905E	probably benign	Het
Musk	A	G	4: 58,327,347 (GRCm39)	D217G	probably damaging	Het
Napb	T	C	2: 148,540,880 (GRCm39)	T236A	probably benign	Het
Nbn	T	A	4: 15,962,387 (GRCm39)	D38E	probably damaging	Het
Ncaph	T	C	2: 126,969,113 (GRCm39)	N87D	probably benign	Het
Or4a78	A	G	2: 89,497,816 (GRCm39)	V138A	probably benign	Het
Pcdhb13	T	A	18: 37,576,204 (GRCm39)	V194E	probably damaging	Het
Pck1	T	C	2: 173,000,177 (GRCm39)	V536A	possibly damaging	Het
Pld5	C	T	1: 175,821,603 (GRCm39)	G188S	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Pnkd	A	G	1: 74,389,793 (GRCm39)	T306A	probably benign	Het
Ppm1k	T	C	6: 57,491,975 (GRCm39)	E279G	probably damaging	Het
Ppm1l	G	T	3: 69,456,813 (GRCm39)	K243N	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,801 (GRCm39)	T26A	probably damaging	Het
Rtel1	T	C	2: 180,964,202 (GRCm39)	V67A	probably benign	Het
Rxfp4	T	C	3: 88,559,899 (GRCm39)	E184G	probably damaging	Het
Scp2d1	A	G	2: 144,665,918 (GRCm39)	I86V	probably benign	Het
Sec16a	G	T	2: 26,315,862 (GRCm39)	P1718Q	probably damaging	Het
Sgcg	T	A	14: 61,459,195 (GRCm39)	T245S	probably benign	Het
Slc18a2	A	G	19: 59,261,989 (GRCm39)	T215A	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sox17	G	T	1: 4,562,378 (GRCm39)	P146Q	probably damaging	Het
Spata31d1e	A	T	13: 59,890,319 (GRCm39)	Y500*	probably null	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Sybu	T	A	15: 44,536,478 (GRCm39)	E616V	probably damaging	Het
Tk2	C	T	8: 104,957,825 (GRCm39)	V174I	probably benign	Het
Tmc5	G	A	7: 118,244,618 (GRCm39)	V499I	probably benign	Het
Tonsl	T	C	15: 76,523,956 (GRCm39)	T15A	probably benign	Het
Ttll12	A	G	15: 83,464,831 (GRCm39)	I448T	probably damaging	Het
Ttn	A	G	2: 76,584,101 (GRCm39)	S22336P	probably damaging	Het
Ubap1	C	A	4: 41,379,163 (GRCm39)	H126N	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r84	T	C	10: 130,226,777 (GRCm39)	N354D	probably damaging	Het
Vpreb3	A	C	10: 75,785,037 (GRCm39)	H45P	probably benign	Het
Zc3h13	T	A	14: 75,546,380 (GRCm39)	Y160*	probably null	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
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
R8071:Fndc1	UTSW	17	7,991,362 (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'- TGCCCTAGACAGCATTCACC -3'
(R):5'- CTTGGAGGTGATCAAAACCAC -3'

Sequencing Primer
(F):5'- GTAAGTTGCCTACATTAGAACGAAG -3'
(R):5'- GTGATCAAAACCACCACATACTCTC -3'

Posted On

2015-02-18