Mutagenetix > Incidental Mutation

Incidental Mutation 'R2425:Fndc1'

476328

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

040387-MU

Accession Numbers

Essential gene?

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

Stock #

R2425 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7957401-8046134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8023850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 35 (D35V)

Ref Sequence

ENSEMBL: ENSMUSP00000126701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097425] [ENSMUST00000167580] [ENSMUST00000169126]

AlphaFold

A0A6I8MWX0

Predicted Effect

probably benign
Transcript: ENSMUST00000097425

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984

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

probably benign
Transcript: ENSMUST00000167580

SMART Domains

Protein: ENSMUSP00000130996
Gene: ENSMUSG00000071984

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
FN3	38	121	7.82e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169126
AA Change: D35V

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

SMART Domains

Protein: ENSMUSP00000126701
Gene: ENSMUSG00000071984
AA Change: D35V

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
FN3	37	117	1.22e-5	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,959,033 (GRCm39)	F621S	probably damaging	Het
Abcc10	A	G	17: 46,621,083 (GRCm39)	Y976H	probably damaging	Het
Abhd6	T	A	14: 8,049,857 (GRCm38)	N215K	probably benign	Het
Adcy4	T	C	14: 56,015,474 (GRCm39)	T479A	probably damaging	Het
Amacr	A	G	15: 10,983,454 (GRCm39)	Q88R	possibly damaging	Het
Ankrd11	T	A	8: 123,619,902 (GRCm39)	I1317F	possibly damaging	Het
Ano3	C	A	2: 110,693,188 (GRCm39)	A137S	probably benign	Het
Astn1	T	G	1: 158,407,236 (GRCm39)	S562A	probably damaging	Het
Cd44	T	A	2: 102,691,931 (GRCm39)	Y119F	probably damaging	Het
CN725425	A	C	15: 91,130,058 (GRCm39)	D307A	probably damaging	Het
Col12a1	T	C	9: 79,585,648 (GRCm39)	Y1243C	probably damaging	Het
Cyp2c50	T	C	19: 40,078,292 (GRCm39)	I50T	probably benign	Het
Dhrs9	A	G	2: 69,223,308 (GRCm39)	K19E	probably benign	Het
Dnajb14	T	G	3: 137,598,666 (GRCm39)	F135V	probably null	Het
Draxin	T	A	4: 148,197,213 (GRCm39)	T195S	possibly damaging	Het
Elane	C	T	10: 79,723,610 (GRCm39)	R192C	probably benign	Het
Fam171a2	A	C	11: 102,329,187 (GRCm39)	I524S	possibly damaging	Het
Fbxo10	C	T	4: 45,051,642 (GRCm39)	E490K	possibly damaging	Het
Fkbp15	T	C	4: 62,230,602 (GRCm39)	T704A	probably benign	Het
Galntl5	A	G	5: 25,425,079 (GRCm39)	K366E	probably damaging	Het
Gas7	G	A	11: 67,534,121 (GRCm39)	A74T	probably benign	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
Gldc	T	A	19: 30,109,190 (GRCm39)	N583Y	probably damaging	Het
Gpr161	T	A	1: 165,138,192 (GRCm39)	S259R	possibly damaging	Het
Igfn1	T	A	1: 135,890,840 (GRCm39)	T2387S	probably damaging	Het
Il3	A	T	11: 54,156,375 (GRCm39)	V119D	possibly damaging	Het
Ints3	T	C	3: 90,301,417 (GRCm39)	T822A	possibly damaging	Het
Jakmip1	C	T	5: 37,299,149 (GRCm39)	Q790*	probably null	Het
Kcne1	A	G	16: 92,145,646 (GRCm39)	I66T	probably damaging	Het
Nipbl	A	G	15: 8,380,966 (GRCm39)	S609P	probably benign	Het
Or10d5	T	C	9: 39,861,137 (GRCm39)	E310G	probably null	Het
Or2t48	A	G	11: 58,420,137 (GRCm39)	I225T	probably damaging	Het
Or8k21	A	G	2: 86,144,739 (GRCm39)	V297A	probably damaging	Het
Pdxdc1	A	T	16: 13,697,372 (GRCm39)	S103T	possibly damaging	Het
Pla2g2a	C	A	4: 138,560,229 (GRCm39)	A24E	possibly damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pramel1	T	G	4: 143,125,036 (GRCm39)	L320R	probably damaging	Het
Rad23b	T	A	4: 55,385,438 (GRCm39)	I325N	probably damaging	Het
Rasgrp1	C	G	2: 117,119,931 (GRCm39)		probably null	Het
Rbm12b1	T	A	4: 12,146,443 (GRCm39)	I805N	probably damaging	Het
Shld2	A	G	14: 33,990,646 (GRCm39)	S87P	probably damaging	Het
Slc12a9	G	T	5: 137,313,859 (GRCm39)	A700E	probably damaging	Het
Tbc1d24	A	T	17: 24,404,982 (GRCm39)	V54E	probably damaging	Het
Tmc8	A	G	11: 117,683,395 (GRCm39)	D650G	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Ush2a	T	A	1: 188,270,001 (GRCm39)	N1749K	possibly damaging	Het
Usp42	T	C	5: 143,701,594 (GRCm39)	T810A	probably benign	Het
Wdr70	C	A	15: 7,916,840 (GRCm39)	E526*	probably null	Het
Zfp935	G	T	13: 62,602,922 (GRCm39)	Q93K	probably benign	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
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
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

Posted On

2017-05-11