Mutagenetix > Incidental Mutation

Incidental Mutation 'R6865:Fndc1'

535884

Institutional Source

Beutler Lab

Gene Symbol

Fndc1

Ensembl Gene

ENSMUSG00000071984

Gene Name

fibronectin type III domain containing 1

Synonyms

1110027O12Rik

MMRRC Submission

045027-MU

Accession Numbers

Essential gene?

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

Stock #

R6865 (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 7991672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 675 (T675S)

Ref Sequence

ENSEMBL: ENSMUSP00000095036 (fasta)

Gene Model

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

AlphaFold

A0A6I8MWX0

Predicted Effect

unknown
Transcript: ENSMUST00000097425
AA Change: T675S

SMART Domains

Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: T675S

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	A	13: 4,320,212 (GRCm39)	M293L	possibly damaging	Het
Ankrd11	T	C	8: 123,621,683 (GRCm39)	D723G	probably benign	Het
Ankrd26	T	C	6: 118,500,442 (GRCm39)	R1010G	possibly damaging	Het
Apob	G	A	12: 8,058,847 (GRCm39)	R2410H	probably benign	Het
Auh	T	C	13: 52,992,165 (GRCm39)	D275G	probably damaging	Het
Card10	G	T	15: 78,686,822 (GRCm39)	D47E	possibly damaging	Het
Ccdc141	C	T	2: 76,859,579 (GRCm39)		probably null	Het
Cfap206	T	C	4: 34,714,448 (GRCm39)	Y416C	possibly damaging	Het
Chuk	A	T	19: 44,075,354 (GRCm39)	Y500*	probably null	Het
Cop1	T	A	1: 159,136,524 (GRCm39)	D536E	probably damaging	Het
Crh	G	C	3: 19,748,304 (GRCm39)	P113A	possibly damaging	Het
Ddx54	T	G	5: 120,759,892 (GRCm39)		probably null	Het
Efcab7	T	C	4: 99,769,793 (GRCm39)	S127P	probably damaging	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Fga	T	A	3: 82,938,848 (GRCm39)	C408S	probably damaging	Het
Flot2	T	C	11: 77,940,318 (GRCm39)	S22P	probably benign	Het
Foxc1	A	G	13: 31,992,836 (GRCm39)	D549G	unknown	Het
Gldc	T	C	19: 30,111,162 (GRCm39)	N538S	possibly damaging	Het
Grk4	T	G	5: 34,888,894 (GRCm39)	V346G	probably damaging	Het
Gucy2c	T	C	6: 136,747,127 (GRCm39)	R111G	probably benign	Het
Heatr6	C	T	11: 83,659,966 (GRCm39)	H504Y	probably damaging	Het
Lrp5	A	T	19: 3,670,013 (GRCm39)		probably null	Het
Msrb1	T	C	17: 24,955,685 (GRCm39)	S2P	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo3a	A	G	2: 22,464,313 (GRCm39)	I185V	probably benign	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Nek6	A	G	2: 38,459,678 (GRCm39)	I174V	probably benign	Het
Nmt2	T	C	2: 3,315,766 (GRCm39)	V252A	probably damaging	Het
Nudt9	G	T	5: 104,207,545 (GRCm39)	R179M	probably damaging	Het
Nwd1	T	C	8: 73,383,690 (GRCm39)	V29A	possibly damaging	Het
Olah	T	C	2: 3,343,964 (GRCm39)	D216G	possibly damaging	Het
Or13c7b	T	C	4: 43,821,346 (GRCm39)	N5S	probably benign	Het
Or52n2	T	C	7: 104,542,719 (GRCm39)	I39V	probably benign	Het
Parp12	T	C	6: 39,088,670 (GRCm39)	I189V	probably benign	Het
Pkd1	T	C	17: 24,795,461 (GRCm39)	V2318A	probably benign	Het
Pknox1	T	A	17: 31,807,534 (GRCm39)	M51K	probably damaging	Het
Ppp1r12a	C	T	10: 108,098,242 (GRCm39)	R321*	probably null	Het
Pxdn	A	G	12: 30,064,582 (GRCm39)		probably null	Het
Rab44	A	T	17: 29,358,201 (GRCm39)	I130F	probably benign	Het
Rnf130	T	C	11: 49,962,091 (GRCm39)	I179T	probably damaging	Het
Slc22a28	A	T	19: 8,041,856 (GRCm39)	C450*	probably null	Het
Slco1c1	A	T	6: 141,485,778 (GRCm39)	Y136F	probably damaging	Het
Synj2	C	T	17: 6,067,844 (GRCm39)	Q106*	probably null	Het
Uckl1	T	C	2: 181,216,286 (GRCm39)	N138S	probably damaging	Het
Usp19	G	T	9: 108,376,018 (GRCm39)	E203*	probably null	Het
Vdr	A	G	15: 97,755,386 (GRCm39)	I379T	probably damaging	Het
Zfp503	C	A	14: 22,036,101 (GRCm39)	G272C	probably damaging	Het
Zfyve9	T	C	4: 108,501,558 (GRCm39)	N1218S	possibly damaging	Het
Zzz3	T	A	3: 152,133,690 (GRCm39)	D249E	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
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
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'- AAGTGGCTCTTCATCCTCAC -3'
(R):5'- TTCTAGGGATCGCCAGGATGTC -3'

Sequencing Primer
(F):5'- ATCAGAGCCAGGCCTAGTGTG -3'
(R):5'- CAGGATGTCCATGCCTCTAG -3'

Posted On

2018-10-18