Mutagenetix > Incidental Mutations

Incidental Mutation 'R6303:Fndc1'

509171

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R6303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7738569-7827302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7758485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1394 (E1394G)

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 damaging
Transcript: ENSMUST00000097425
AA Change: E1394G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: E1394G

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

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,290,368	K2269N	possibly damaging	Het
5330417C22Rik	A	C	3: 108,461,256	C806W	probably damaging	Het
Apol9b	T	A	15: 77,735,304	V100E	probably damaging	Het
Bin3	A	G	14: 70,137,176	D218G	possibly damaging	Het
Cobll1	A	T	2: 65,098,033	M982K	possibly damaging	Het
Crybg2	T	C	4: 134,087,587	V1593A	possibly damaging	Het
Ctsh	A	G	9: 90,062,743	S76G	possibly damaging	Het
Dnajc10	T	G	2: 80,350,664	D767E	probably benign	Het
Etaa1	A	C	11: 17,947,505	M204R	probably damaging	Het
Fbxw16	A	T	9: 109,449,101	I3N	probably benign	Het
Gm19410	T	C	8: 35,807,560	C1512R	possibly damaging	Het
Gramd4	A	G	15: 86,134,919	E596G	possibly damaging	Het
Hephl1	C	A	9: 15,090,152	V226F	possibly damaging	Het
Ilf3	G	A	9: 21,403,136		probably benign	Het
Kcnh3	T	C	15: 99,227,038	V123A	probably benign	Het
Kdm2b	A	G	5: 122,881,744	S260P	probably benign	Het
Lingo4	G	A	3: 94,403,206	G484R	probably damaging	Het
Lrrc10b	T	C	19: 10,456,978	Q113R	probably benign	Het
Lrrc8c	A	T	5: 105,608,609	N750I	probably benign	Het
Nlrp2	A	G	7: 5,337,761	L18P	probably damaging	Het
Nrp2	T	C	1: 62,745,406	L238P	probably damaging	Het
Nup155	T	C	15: 8,118,042	S262P	probably damaging	Het
Olfr639	G	A	7: 104,012,031	L224F	probably damaging	Het
Pappa	G	A	4: 65,204,654	G742D	probably damaging	Het
Pclo	A	T	5: 14,677,893		probably benign	Het
Phyhipl	A	G	10: 70,559,557		probably null	Het
Plcg1	A	G	2: 160,761,463	T1185A	possibly damaging	Het
Plscr5	A	T	9: 92,205,556	I193F	probably benign	Het
Polr1b	G	A	2: 129,115,762	R579H	probably damaging	Het
Polr2a	A	T	11: 69,746,913	W202R	probably damaging	Het
Ppp4r1	A	G	17: 65,824,729	K489E	probably benign	Het
Qser1	G	A	2: 104,762,830	T1704I	probably damaging	Het
Sik1	A	G	17: 31,846,296	V776A	probably damaging	Het
Soga1	T	C	2: 157,040,764	N456S	possibly damaging	Het
Spice1	A	G	16: 44,370,697	M305V	probably benign	Het
Taf4b	T	C	18: 14,807,355	I297T	probably damaging	Het
Trim14	C	A	4: 46,522,118	M186I	probably benign	Het
Usp49	C	A	17: 47,680,822	Q670K	probably damaging	Het
Usp54	T	C	14: 20,560,968	D1260G	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,766	S202T	possibly damaging	Het
Vmn1r3	T	A	4: 3,184,975	T111S	probably damaging	Het
Zfp985	A	G	4: 147,583,775	I367V	probably benign	Het

Other mutations in Fndc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00513:Fndc1	APN	17	7765254	missense	unknown
IGL00590:Fndc1	APN	17	7765101	missense	unknown
IGL00765:Fndc1	APN	17	7772693	missense	unknown
IGL00904:Fndc1	APN	17	7756363	missense	probably benign	0.35
IGL01153:Fndc1	APN	17	7780042	critical splice donor site	probably null
IGL01557:Fndc1	APN	17	7756389	missense	probably damaging	0.99
IGL02493:Fndc1	APN	17	7775545	missense	unknown
IGL02501:Fndc1	APN	17	7765398	missense	unknown
IGL02503:Fndc1	APN	17	7771516	missense	unknown
IGL02887:Fndc1	APN	17	7773638	missense	unknown
IGL03348:Fndc1	APN	17	7772647	missense	unknown
pinnacle	UTSW	17	7773322	missense	unknown
spire	UTSW	17	7771480	missense	unknown
IGL02988:Fndc1	UTSW	17	7753523	missense	possibly damaging	0.95
PIT4466001:Fndc1	UTSW	17	7750374	missense	probably damaging	1.00
R0336:Fndc1	UTSW	17	7765107	missense	unknown
R0403:Fndc1	UTSW	17	7753723	missense	probably damaging	1.00
R0403:Fndc1	UTSW	17	7775588	splice site	probably null
R0538:Fndc1	UTSW	17	7784341	splice site	probably benign
R0646:Fndc1	UTSW	17	7741673	missense	possibly damaging	0.92
R1140:Fndc1	UTSW	17	7775426	missense	unknown
R1523:Fndc1	UTSW	17	7773209	missense	unknown
R1609:Fndc1	UTSW	17	7772766	missense	unknown
R1632:Fndc1	UTSW	17	7773200	missense	unknown
R1888:Fndc1	UTSW	17	7771789	missense	unknown
R1888:Fndc1	UTSW	17	7771789	missense	unknown
R2004:Fndc1	UTSW	17	7804929	missense	probably damaging	1.00
R2007:Fndc1	UTSW	17	7778748	unclassified	probably benign
R2128:Fndc1	UTSW	17	7778665	unclassified	probably benign
R2187:Fndc1	UTSW	17	7741772	missense	probably damaging	1.00
R2251:Fndc1	UTSW	17	7753607	missense	probably damaging	1.00
R2322:Fndc1	UTSW	17	7789015	missense	probably damaging	0.98
R2425:Fndc1	UTSW	17	7805018	missense	probably damaging	1.00
R2921:Fndc1	UTSW	17	7804875	missense	probably damaging	0.98
R2985:Fndc1	UTSW	17	7756323	missense	possibly damaging	0.93
R3436:Fndc1	UTSW	17	7750357	missense	probably damaging	0.99
R3499:Fndc1	UTSW	17	7753584	missense	possibly damaging	0.70
R3508:Fndc1	UTSW	17	7765108	nonsense	probably null
R3766:Fndc1	UTSW	17	7784421	missense	probably damaging	1.00
R3813:Fndc1	UTSW	17	7773322	missense	unknown
R3814:Fndc1	UTSW	17	7773322	missense	unknown
R4031:Fndc1	UTSW	17	7769752	nonsense	probably null
R4544:Fndc1	UTSW	17	7773544	missense	unknown
R4583:Fndc1	UTSW	17	7739249	missense	probably damaging	1.00
R4619:Fndc1	UTSW	17	7765204	missense	unknown
R4700:Fndc1	UTSW	17	7771480	missense	unknown
R4743:Fndc1	UTSW	17	7772279	nonsense	probably null
R4803:Fndc1	UTSW	17	7753706	missense	probably damaging	0.98
R4862:Fndc1	UTSW	17	7769735	missense	unknown
R4876:Fndc1	UTSW	17	7771639	missense	unknown
R5057:Fndc1	UTSW	17	7771970	nonsense	probably null
R5327:Fndc1	UTSW	17	7772708	missense	unknown
R5372:Fndc1	UTSW	17	7765210	missense	unknown
R5533:Fndc1	UTSW	17	7772776	missense	unknown
R5754:Fndc1	UTSW	17	7769753	missense	unknown
R5762:Fndc1	UTSW	17	7771534	missense	unknown
R5830:Fndc1	UTSW	17	7789086	missense	possibly damaging	0.87
R5924:Fndc1	UTSW	17	7773610	missense	unknown
R6147:Fndc1	UTSW	17	7753762	splice site	probably null
R6175:Fndc1	UTSW	17	7772647	missense	unknown
R6377:Fndc1	UTSW	17	7769735	missense	unknown
R6704:Fndc1	UTSW	17	7771810	missense	unknown
R6857:Fndc1	UTSW	17	7772170	missense	unknown
R6865:Fndc1	UTSW	17	7772840	missense	unknown
R7069:Fndc1	UTSW	17	7769735	missense	unknown
R7153:Fndc1	UTSW	17	7801645	missense	probably damaging	1.00
R7159:Fndc1	UTSW	17	7800931	missense	probably damaging	0.97
R7359:Fndc1	UTSW	17	7813486	splice site	probably null
R7731:Fndc1	UTSW	17	7773439	missense	unknown
R7743:Fndc1	UTSW	17	7765137	missense	unknown
R7884:Fndc1	UTSW	17	7773197	missense	unknown
R8071:Fndc1	UTSW	17	7772530	missense	unknown
R8100:Fndc1	UTSW	17	7771853	missense	unknown
R8317:Fndc1	UTSW	17	7800888	nonsense	probably null
R8362:Fndc1	UTSW	17	7782375	missense	unknown
R8835:Fndc1	UTSW	17	7739279	missense	probably damaging	1.00
R8841:Fndc1	UTSW	17	7773349	missense	unknown
R8912:Fndc1	UTSW	17	7800946	missense	probably null	0.26
R9236:Fndc1	UTSW	17	7773628	missense	unknown
R9392:Fndc1	UTSW	17	7773125	missense	unknown
R9412:Fndc1	UTSW	17	7772366	missense	unknown
Z1088:Fndc1	UTSW	17	7782479	missense	probably damaging	0.96
Z1176:Fndc1	UTSW	17	7773593	nonsense	probably null
Z1176:Fndc1	UTSW	17	7804877	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- ATGAGTCCACTGGGTTCCTC -3'
(R):5'- AAGAGAGATCTGTTTGAGGATCTGG -3'

Sequencing Primer
(F):5'- TTCCTCCCAGGGACCTAACG -3'
(R):5'- CAGTCTTCTGGAAAACCGAGG -3'

Posted On

2018-04-02