Mutagenetix > Incidental Mutation

Incidental Mutation 'R3499:Fndc1'

273725

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

040662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7957401-8046134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7972416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1505 (M1505I)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

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

AlphaFold

A0A6I8MWX0

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097424

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097425
AA Change: M1505I

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: M1505I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430571L13Rik	A	T	9: 107,219,678 (GRCm39)	T44S	probably damaging	Het
Cass4	C	T	2: 172,274,478 (GRCm39)	P753L	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Ctif	A	T	18: 75,744,828 (GRCm39)	L92Q	possibly damaging	Het
Dnah11	C	A	12: 117,874,758 (GRCm39)	D4036Y	probably damaging	Het
Dnah17	C	T	11: 117,971,675 (GRCm39)		probably benign	Het
Dnah6	G	C	6: 73,009,616 (GRCm39)	A3725G	probably benign	Het
Ebag9	A	G	15: 44,493,528 (GRCm39)	N117D	probably benign	Het
Elf4	C	T	X: 47,507,942 (GRCm39)	E158K	probably benign	Het
Ephb6	C	T	6: 41,593,093 (GRCm39)	R444*	probably null	Het
Fcgbpl1	T	A	7: 27,853,980 (GRCm39)	I1648K	probably benign	Het
Gpr35	A	G	1: 92,911,113 (GRCm39)	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,480,853 (GRCm39)	I4441N	probably damaging	Het
Kif13a	T	C	13: 46,978,815 (GRCm39)	D195G	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Ksr2	C	A	5: 117,827,640 (GRCm39)	T473K	probably damaging	Het
Kxd1	T	C	8: 70,966,632 (GRCm39)		probably null	Het
Lyplal1	A	G	1: 185,820,857 (GRCm39)	S197P	possibly damaging	Het
Macf1	A	T	4: 123,421,098 (GRCm39)	L52*	probably null	Het
Mrgprb5	A	G	7: 47,818,661 (GRCm39)	S25P	probably benign	Het
Nucb1	T	C	7: 45,148,300 (GRCm39)	H171R	probably benign	Het
Or10d1c	A	G	9: 38,893,761 (GRCm39)	L193P	probably damaging	Het
Or4a15	A	T	2: 89,193,294 (GRCm39)	F160I	probably benign	Het
Or56b35	G	A	7: 104,963,607 (GRCm39)	C132Y	probably damaging	Het
Or8h8	A	G	2: 86,753,373 (GRCm39)	F168L	possibly damaging	Het
Or8k18	A	G	2: 86,085,185 (GRCm39)	M284T	possibly damaging	Het
Prkdc	A	T	16: 15,585,889 (GRCm39)	I2476F	probably damaging	Het
Ptprf	A	T	4: 118,082,127 (GRCm39)	I1037N	probably damaging	Het
Ralgapa1	T	G	12: 55,741,928 (GRCm39)		probably benign	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc28a3	C	T	13: 58,721,253 (GRCm39)		probably benign	Het
Slc44a4	A	G	17: 35,140,656 (GRCm39)	D283G	probably benign	Het
Slc6a9	A	G	4: 117,714,000 (GRCm39)	I105V	probably benign	Het
Smgc	A	G	15: 91,726,206 (GRCm39)	T51A	possibly damaging	Het
Smyd5	T	A	6: 85,415,172 (GRCm39)	L60H	probably damaging	Het
Spred1	A	T	2: 117,005,867 (GRCm39)	M210L	probably benign	Het
Syne2	G	A	12: 76,101,752 (GRCm39)		probably null	Het
Tab3	T	C	X: 84,658,727 (GRCm39)	I418T	probably benign	Het
Tbc1d12	A	T	19: 38,884,478 (GRCm39)	E343V	possibly damaging	Het
Tktl2	T	A	8: 66,965,897 (GRCm39)	I485N	probably damaging	Het
Tmem181a	T	A	17: 6,330,894 (GRCm39)	Y51*	probably null	Het
Tmem229b-ps	C	T	10: 53,351,223 (GRCm39)		noncoding transcript	Het
Trip11	A	G	12: 101,859,953 (GRCm39)	I307T	possibly damaging	Het
Ttf1	T	C	2: 28,955,499 (GRCm39)	S288P	possibly damaging	Het
Zfp395	G	T	14: 65,628,742 (GRCm39)	R198L	possibly 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
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
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'- TGCAGTTACCCACATTCCCAAG -3'
(R):5'- AGAAGTCCAACTGAGCATCTCTG -3'

Sequencing Primer
(F):5'- GCTGAAAAAGATGTCTGCCTTCC -3'
(R):5'- AACTGAGCATCTCTGTTCTTTCCAG -3'

Posted On

2015-04-02